diff --git a/apps/platform/src/pages/VariantPage/Profile.tsx b/apps/platform/src/pages/VariantPage/Profile.tsx
index 7be750c7d..d8707401b 100644
--- a/apps/platform/src/pages/VariantPage/Profile.tsx
+++ b/apps/platform/src/pages/VariantPage/Profile.tsx
@@ -1,12 +1,71 @@
+import { Suspense, lazy } from "react";
+import {
+  // PlatformApiProvider,
+  SectionContainer,
+  SummaryContainer,
+  SectionLoader,
+} from "ui";
+
+import InSilicoPredictorsSummary from "sections/src/variant/InSilicoPredictors/Summary";
+import EVASummary from "sections/src/variant/EVA/Summary";
+import UniProtVariantsSummary from "sections/src/variant/UniProtVariants/Summary";
+
 import ProfileHeader from "./ProfileHeader";
 
+const InSilicoPredictorsSection = lazy(() => import("sections/src/variant/InSilicoPredictors/Body"));
+const EVASection = lazy(() => import("sections/src/variant/EVA/Body"));
+const UniProtVariantsSection = lazy(() => import("sections/src/variant/UniProtVariants/Body"));
+
+const summaries = [
+  InSilicoPredictorsSummary,
+  EVASummary,
+  UniProtVariantsSummary
+];
+
+const VARIANT = "variant";
+
+// !!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!
+// TO DO (see e.g. profile.jsx for the evidence page):
+// - VARIANT_PROFILE_SUMMARY_FRAGMENT
+// - EVIDENCE_PROFILE_QUERY
+// !!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!
+
 type ProfileProps = {
   varId: string;
 };
 
 function Profile({ varId }: ProfileProps) {
   
-  return <ProfileHeader varId={varId} />
+  return (
+    // !!!!!!!!!!
+    // PUT EVERYTHING INSIDE <PlatformApiProvider> INSTEAD OF FRAGMENT
+    // !!!!!!!!!!
+    <>
+
+      <ProfileHeader varId={varId} />
+
+      <SummaryContainer>
+        <InSilicoPredictorsSummary />
+        <EVASummary />
+        <UniProtVariantsSummary />
+      </SummaryContainer>
+    
+      <SectionContainer>
+        <Suspense fallback={<SectionLoader />}>
+          <InSilicoPredictorsSection id={varId} label='NO-LABEL!' entity={VARIANT} />
+        </Suspense>
+        <Suspense fallback={<SectionLoader />}>
+          <EVASection id={varId} label='NO-LABEL!' entity={VARIANT} />
+        </Suspense>
+        <Suspense fallback={<SectionLoader />}>
+          <UniProtVariantsSection id={varId} label='NO-LABEL!' entity={VARIANT} />
+        </Suspense>
+        {/* NEED ANYTHING IN <PrivateWrapper> ???? see evidence page */}
+      </SectionContainer>
+  
+    </>
+
+  );
 
 }
 
diff --git a/apps/platform/src/pages/VariantPage/types.ts b/apps/platform/src/pages/VariantPage/types.ts
index 24c24585d..3e3de5f40 100644
--- a/apps/platform/src/pages/VariantPage/types.ts
+++ b/apps/platform/src/pages/VariantPage/types.ts
@@ -1,3 +1,8 @@
+
+// ========
+// Metadata
+// ========
+
 export type AlleleFrequencyType = {
   populationName: string;
   alleleFrequency: number;
@@ -37,5 +42,56 @@ export type MetadataType = {
   alleleType: string;
   alleleFrequencies: AlleleFrequencyType[];
   vep: VepType;
-  inSilicoPredictors: InSilicoPredictorsType;
-};
\ No newline at end of file
+};
+
+// ==================
+// InSilicoPredictors
+// ==================
+
+export type InSilicoPredictorsType = {
+  [index: number]: {
+    method: string,
+    assesessment?: string,
+    flag?: string,
+    score?: number,
+  }
+};
+
+// =======
+// ClinVar
+// =======
+
+export type ClinVarType = {
+  alleleOrigins: string[],
+  alleleRequirements: string[],
+  approvedSymbol: string,
+  clinicalSignificances: string[],
+  cohortPhenotypes: string[],
+  confidence: string,
+  directionOnTrait: "risk",
+  "disease.id": string,
+  "disease.name": string,
+  diseaseFromSource: string,
+  diseaseId: string,
+  diseaseName: string,
+  literature: string[],
+  studyId: string,
+  targetId: string,
+  variantId: string,
+};
+
+// ===============
+// UniProtVariants
+// ===============
+
+export type UniProtVariants = {
+  variantId: string,
+  confidence: string,
+  diseaseFromSource: string,
+  literature: string[],
+  targetFromSourceId: string,
+  "target.id": string,
+  "target.approvedSymbol": string,
+  "disease.id": string,
+  "disease.name": string,
+};  
diff --git a/apps/platform/src/sections/variantSections.js b/apps/platform/src/sections/variantSections.js
new file mode 100644
index 000000000..6332e4972
--- /dev/null
+++ b/apps/platform/src/sections/variantSections.js
@@ -0,0 +1,7 @@
+import { lazy } from "react";
+
+const variantSections = new Map([
+  ["eva", lazy(() => import("sections/src/evidence/EVA/Body"))],
+]);
+
+export default variantSections;
diff --git a/packages/sections/src/variant/EVA/Body.tsx b/packages/sections/src/variant/EVA/Body.tsx
new file mode 100644
index 000000000..4a222b85e
--- /dev/null
+++ b/packages/sections/src/variant/EVA/Body.tsx
@@ -0,0 +1,2964 @@
+import {
+  Link,
+  Tooltip,
+  SectionItem,
+  PublicationsDrawer,
+  DataTable,
+  ClinvarStars,
+} from "ui";
+import { Typography } from "@mui/material";
+import {
+  clinvarStarMap,
+  naLabel,
+  defaultRowsPerPageOptions,
+} from "../../constants";
+import { definition } from ".";
+
+import Description from "./Description";
+import { epmcUrl } from "../../utils/urls";
+import { sentenceCase } from "../../utils/global";
+
+// !! NEEDED??
+const onLinkClick = e => {
+  // handler to stop propagation of clicks on links in table rows
+  // to avoid selection of a different row
+  e.stopPropagation();
+};
+
+function getColumns(label: string) {
+  return [
+    {
+      id: "disease.name",
+      label: "Disease/phenotype",
+      renderCell: (d) => {  // !! DESTRUCTURE AS NORMAL WHEN USE GQL WITHOUT THESE ODD PROPERTY NAMES
+        const disease_id = d["disease.id"]
+        const disease_name = d["disease.name"];
+        const { diseaseFromSource, cohortPhenotypes } = d;
+        return (
+          <Tooltip
+            title={
+              <>
+                <Typography variant="subtitle2" display="block" align="center">
+                  Reported disease or phenotype:
+                </Typography>
+                <Typography variant="caption" display="block" align="center" gutterBottom>
+                  {diseaseFromSource}
+                </Typography>
+                {cohortPhenotypes?.length > 1 ? (
+                  <>
+                    <Typography variant="subtitle2" display="block" align="center">
+                      All reported phenotypes:
+                    </Typography>
+                    <Typography variant="caption" display="block">
+                      {cohortPhenotypes.map(cp => (
+                        <div key={cp}>{cp}</div>
+                      ))}
+                    </Typography>
+                  </>
+                ) : (
+                  ""
+                )}
+              </>
+            }
+            showHelpIcon
+          >
+            {/* !! ANY !! as any needed below since onClick sig expects no args !! */}
+            <Link to={`/disease/${disease_id}`} onClick={onLinkClick as any}>
+              {disease_name}
+            </Link>
+        </Tooltip>
+        )
+      },
+      exportLabel: "Disease/Phenotype",
+      exportValue: disease_name => disease_name,
+      filterValue: disease_name => disease_name,
+    },
+    {
+      id: "studyId",
+      label: "ClinVar ID",
+      renderCell: ({ studyId }) =>
+        studyId ? (
+          <Link external to={`https://www.ncbi.nlm.nih.gov/clinvar/${studyId}`}>
+            {studyId}
+          </Link>
+        ) : (
+          naLabel
+        ),
+      exportLabel: "ClinVar ID",
+    },
+    {
+      id: "clinicalSignificances",
+      label: "Clinical significance",
+      renderCell: ({ clinicalSignificances }) => {
+        if (!clinicalSignificances) return naLabel;
+        if (clinicalSignificances.length === 1) return sentenceCase(clinicalSignificances[0]);
+        if (clinicalSignificances.length > 1)
+          return (
+            <ul
+              style={{
+                margin: 0,
+                padding: 0,
+                listStyle: "none",
+              }}
+            >
+              {clinicalSignificances.map(clinicalSignificance => (
+                <li key={clinicalSignificance}>{sentenceCase(clinicalSignificance)}</li>
+              ))}
+            </ul>
+          );
+        return naLabel;
+      },
+      filterValue: ({ clinicalSignificances }) => clinicalSignificances.join(),
+    },
+    {
+      id: "allelicRequirements",
+      label: "Allele origin",
+      renderCell: ({ alleleOrigins, allelicRequirements }) => {
+        if (!alleleOrigins || alleleOrigins.length === 0) return naLabel;
+        if (allelicRequirements)
+          return (
+            <Tooltip
+              title={
+                <>
+                  <Typography variant="subtitle2" display="block" align="center">
+                    Allelic requirements:
+                  </Typography>
+                  {allelicRequirements.map(r => (
+                    <Typography variant="caption" key={r}>
+                      {r}
+                    </Typography>
+                  ))}
+                </>
+              }
+              showHelpIcon
+            >
+              {alleleOrigins.map(a => sentenceCase(a)).join("; ")}
+            </Tooltip>
+          );
+        return alleleOrigins.map(a => sentenceCase(a)).join("; ");
+      },
+      filterValue: ({ alleleOrigins }) => (alleleOrigins ? alleleOrigins.join() : ""),
+    },
+    {
+      id: "reviewStatus",
+      label: "Review status",
+      renderCell: ({ confidence }) => (
+        <Tooltip title={confidence}>
+          <span>
+            <ClinvarStars num={clinvarStarMap[confidence]} />
+          </span>
+        </Tooltip>
+      ),
+    },
+    {
+      id: "literature",
+      label: "Literature",
+      renderCell: ({ literature }) => {
+        const literatureList =
+          literature?.reduce((acc, id) => {
+            if (id !== "NA") {
+              acc.push({
+                name: id,
+                url: epmcUrl(id),
+                group: "literature",
+              });
+            }
+            return acc;
+          }, []) || [];
+        return (
+          <PublicationsDrawer entries={literatureList} symbol={label.symbol} name={label.name} />
+        );
+      },
+    },
+  ];
+}
+
+// !!!! LOAD LOCAL DATA FOR NOW
+// const [metadata, setMetadata] =
+//   useState<MetadataType | "waiting" | undefined>("waiting");
+const request = mockQuery();
+
+type BodyProps = {
+  id: string,
+  label: string,
+  entity: string,
+};
+
+function Body({ id, label, entity }: BodyProps) {
+  
+  const columns = getColumns(label);
+  const rows = request.data.variant.eva;
+
+  return (
+    <SectionItem
+      definition={definition}
+      entity={entity}
+      request={request}
+      renderDescription={() => <Description variantId={id} />}
+      renderBody={() => (
+        <DataTable
+          // !! TO DO: add dataDownloader
+          columns={columns}
+          rows={rows}
+          rowsPerPageOptions={defaultRowsPerPageOptions}
+        />
+      )}
+    />
+  );
+
+}
+
+export default Body;
+
+
+// !! HARDCODE DATA FOR NOW !!
+function mockQuery() {
+  return {
+    loading: false,
+    error: undefined,
+    data: JSON.parse(`
+{ 
+  "variant": {
+    "eva": [
+      {
+        "alleleOrigins": [
+          "germline",
+          "maternal",
+          "paternal"
+        ],
+        "allelicRequirements": [
+          "Autosomal recessive inheritance"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Diffuse cerebral degeneration in infancy",
+          "Infantile poliodystrophy",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive sclerosing poliodystrophy"
+        ],
+        "confidence": "criteria provided, multiple submitters, no conflicts",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008758",
+        "disease.name": "mitochondrial DNA depletion syndrome 4a",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "literature": [
+          "11431686",
+          "11571332",
+          "12565911",
+          "14694057",
+          "15122711",
+          "15477547",
+          "15824347",
+          "16130100",
+          "16177225",
+          "17426723",
+          "19251978",
+          "21276947",
+          "26942291",
+          "26942292",
+          "632821"
+        ],
+        "studyId": "RCV000014443",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline",
+          "maternal",
+          "paternal"
+        ],
+        "allelicRequirements": [
+          "Autosomal recessive inheritance"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Diffuse cerebral degeneration in infancy",
+          "Infantile poliodystrophy",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive sclerosing poliodystrophy"
+        ],
+        "confidence": "criteria provided, multiple submitters, no conflicts",
+        "directionOnTrait": "risk",
+        "disease.id": "Orphanet_726",
+        "disease.name": "Alpers syndrome",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "literature": [
+          "11431686",
+          "11571332",
+          "12565911",
+          "14694057",
+          "15122711",
+          "15477547",
+          "15824347",
+          "16130100",
+          "16177225",
+          "17426723",
+          "19251978",
+          "21276947",
+          "26942291",
+          "26942292",
+          "632821"
+        ],
+        "studyId": "RCV000014443",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline",
+          "maternal",
+          "paternal"
+        ],
+        "allelicRequirements": [
+          "Autosomal recessive inheritance"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Epilepsy, progressive myoclonic, type 5",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, multiple submitters, no conflicts",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0011835",
+        "disease.name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseFromSource": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "literature": [
+          "11431686",
+          "11571332",
+          "12565911",
+          "14694057",
+          "15122711",
+          "15477547",
+          "15824347",
+          "16130100",
+          "16177225",
+          "17426723",
+          "19251978",
+          "21276947",
+          "26942291",
+          "26942292",
+          "632821"
+        ],
+        "studyId": "RCV000014441",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline",
+          "maternal",
+          "paternal"
+        ],
+        "allelicRequirements": [
+          "Autosomal recessive inheritance"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Epilepsy, progressive myoclonic, type 5",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, multiple submitters, no conflicts",
+        "directionOnTrait": "risk",
+        "disease.id": "Orphanet_70595",
+        "disease.name": "Sensory ataxic neuropathy - dysarthria - ophthalmoparesis",
+        "diseaseFromSource": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "literature": [
+          "11431686",
+          "11571332",
+          "12565911",
+          "14694057",
+          "15122711",
+          "15477547",
+          "15824347",
+          "16130100",
+          "16177225",
+          "17426723",
+          "19251978",
+          "21276947",
+          "26942291",
+          "26942292",
+          "632821"
+        ],
+        "studyId": "RCV000014441",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "allelicRequirements": [
+          "Autosomal recessive inheritance"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1"
+        ],
+        "confidence": "criteria provided, multiple submitters, no conflicts",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0018002",
+        "disease.name": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "literature": [
+          "11431686",
+          "11571332",
+          "12565911",
+          "14694057",
+          "15122711",
+          "15477547",
+          "15824347",
+          "16130100",
+          "16177225",
+          "17426723",
+          "19251978",
+          "21276947",
+          "26942291",
+          "26942292",
+          "632821"
+        ],
+        "studyId": "RCV000014440",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "allelicRequirements": [
+          "Autosomal recessive inheritance"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1"
+        ],
+        "confidence": "criteria provided, multiple submitters, no conflicts",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0016810",
+        "disease.name": "autosomal recessive progressive external ophthalmoplegia",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "literature": [
+          "11431686",
+          "11571332",
+          "12565911",
+          "14694057",
+          "15122711",
+          "15477547",
+          "15824347",
+          "16130100",
+          "16177225",
+          "17426723",
+          "19251978",
+          "21276947",
+          "26942291",
+          "26942292",
+          "632821"
+        ],
+        "studyId": "RCV000014440",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "maternal"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1"
+        ],
+        "confidence": "criteria provided, multiple submitters, no conflicts",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008003",
+        "disease.name": "autosomal dominant progressive external ophthalmoplegia",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV000184011",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0018002",
+        "disease.name": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0017575",
+        "disease.name": "mitochondrial neurogastrointestinal encephalomyopathy",
+        "diseaseFromSource": "Mitochondrial DNA depletion syndrome 4b",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001198082",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008003",
+        "disease.name": "autosomal dominant progressive external ophthalmoplegia",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0018002",
+        "disease.name": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001813983",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "Orphanet_726",
+        "disease.name": "Alpers syndrome",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Diffuse cerebral degeneration in infancy",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive sclerosing poliodystrophy"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "Orphanet_726",
+        "disease.name": "Alpers syndrome",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001004604",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0016810",
+        "disease.name": "autosomal recessive progressive external ophthalmoplegia",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001813983",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Diffuse cerebral degeneration in infancy",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive sclerosing poliodystrophy"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008758",
+        "disease.name": "mitochondrial DNA depletion syndrome 4a",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001004604",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0011835",
+        "disease.name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseFromSource": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "Orphanet_70595",
+        "disease.name": "Sensory ataxic neuropathy - dysarthria - ophthalmoparesis",
+        "diseaseFromSource": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "Orphanet_70595",
+        "disease.name": "Sensory ataxic neuropathy - dysarthria - ophthalmoparesis",
+        "diseaseFromSource": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "Orphanet_70595",
+        "disease.name": "Sensory ataxic neuropathy - dysarthria - ophthalmoparesis",
+        "diseaseFromSource": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001813983",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0017575",
+        "disease.name": "mitochondrial neurogastrointestinal encephalomyopathy",
+        "diseaseFromSource": "Mitochondrial DNA depletion syndrome 4b",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001813983",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0017575",
+        "disease.name": "mitochondrial neurogastrointestinal encephalomyopathy",
+        "diseaseFromSource": "Mitochondrial DNA depletion syndrome 4b",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0018002",
+        "disease.name": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008758",
+        "disease.name": "mitochondrial DNA depletion syndrome 4a",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "Orphanet_726",
+        "disease.name": "Alpers syndrome",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "Orphanet_726",
+        "disease.name": "Alpers syndrome",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001813983",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008003",
+        "disease.name": "autosomal dominant progressive external ophthalmoplegia",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0011283",
+        "disease.name": "mitochondrial DNA depletion syndrome 1",
+        "diseaseFromSource": "Mitochondrial DNA depletion syndrome 1",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Familial spastic paraparesis",
+          "Hereditary spastic paraplegia"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0019064",
+        "disease.name": "hereditary spastic paraplegia",
+        "diseaseFromSource": "Hereditary spastic paraplegia",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001847600",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0016810",
+        "disease.name": "autosomal recessive progressive external ophthalmoplegia",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008758",
+        "disease.name": "mitochondrial DNA depletion syndrome 4a",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0017575",
+        "disease.name": "mitochondrial neurogastrointestinal encephalomyopathy",
+        "diseaseFromSource": "Mitochondrial DNA depletion syndrome 4b",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0011835",
+        "disease.name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseFromSource": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001813983",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008758",
+        "disease.name": "mitochondrial DNA depletion syndrome 4a",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001813983",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Inborn genetic diseases"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "EFO_0000508",
+        "disease.name": "genetic disorder",
+        "diseaseFromSource": "Inborn genetic diseases",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV002316195",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0016810",
+        "disease.name": "autosomal recessive progressive external ophthalmoplegia",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Diffuse cerebral degeneration in infancy",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive sclerosing poliodystrophy"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0017575",
+        "disease.name": "mitochondrial neurogastrointestinal encephalomyopathy",
+        "diseaseFromSource": "Mitochondrial DNA depletion syndrome 4b",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV001004604",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0011835",
+        "disease.name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseFromSource": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Spinocerebellar ataxia with epilepsy"
+        ],
+        "confidence": "no assertion criteria provided",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0016809",
+        "disease.name": "spinocerebellar ataxia with epilepsy",
+        "diseaseFromSource": "Spinocerebellar ataxia with epilepsy",
+        "diseaseId": "EFO_0000508",
+        "diseaseName": "genetic disorder",
+        "literature": [
+          "11431686",
+          "11571332",
+          "12565911",
+          "14694057",
+          "15122711",
+          "15477547",
+          "15824347",
+          "16130100",
+          "16177225",
+          "17426723",
+          "19251978",
+          "21276947",
+          "26942291",
+          "26942292",
+          "632821"
+        ],
+        "studyId": "RCV000014442",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline",
+          "maternal",
+          "paternal"
+        ],
+        "allelicRequirements": [
+          "Autosomal recessive inheritance"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Diffuse cerebral degeneration in infancy",
+          "Infantile poliodystrophy",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive sclerosing poliodystrophy"
+        ],
+        "confidence": "criteria provided, multiple submitters, no conflicts",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008758",
+        "disease.name": "mitochondrial DNA depletion syndrome 4a",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "literature": [
+          "11431686",
+          "11571332",
+          "12565911",
+          "14694057",
+          "15122711",
+          "15477547",
+          "15824347",
+          "16130100",
+          "16177225",
+          "17426723",
+          "19251978",
+          "21276947",
+          "26942291",
+          "26942292",
+          "632821"
+        ],
+        "studyId": "RCV000014443",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline",
+          "maternal",
+          "paternal"
+        ],
+        "allelicRequirements": [
+          "Autosomal recessive inheritance"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Epilepsy, progressive myoclonic, type 5",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, multiple submitters, no conflicts",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0011835",
+        "disease.name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseFromSource": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "literature": [
+          "11431686",
+          "11571332",
+          "12565911",
+          "14694057",
+          "15122711",
+          "15477547",
+          "15824347",
+          "16130100",
+          "16177225",
+          "17426723",
+          "19251978",
+          "21276947",
+          "26942291",
+          "26942292",
+          "632821"
+        ],
+        "studyId": "RCV000014441",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "allelicRequirements": [
+          "Autosomal recessive inheritance"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1"
+        ],
+        "confidence": "criteria provided, multiple submitters, no conflicts",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0018002",
+        "disease.name": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "literature": [
+          "11431686",
+          "11571332",
+          "12565911",
+          "14694057",
+          "15122711",
+          "15477547",
+          "15824347",
+          "16130100",
+          "16177225",
+          "17426723",
+          "19251978",
+          "21276947",
+          "26942291",
+          "26942292",
+          "632821"
+        ],
+        "studyId": "RCV000014440",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "allelicRequirements": [
+          "Autosomal recessive inheritance"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1"
+        ],
+        "confidence": "criteria provided, multiple submitters, no conflicts",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0016810",
+        "disease.name": "autosomal recessive progressive external ophthalmoplegia",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "literature": [
+          "11431686",
+          "11571332",
+          "12565911",
+          "14694057",
+          "15122711",
+          "15477547",
+          "15824347",
+          "16130100",
+          "16177225",
+          "17426723",
+          "19251978",
+          "21276947",
+          "26942291",
+          "26942292",
+          "632821"
+        ],
+        "studyId": "RCV000014440",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "maternal"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1"
+        ],
+        "confidence": "criteria provided, multiple submitters, no conflicts",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008003",
+        "disease.name": "autosomal dominant progressive external ophthalmoplegia",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV000184011",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0018002",
+        "disease.name": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0017575",
+        "disease.name": "mitochondrial neurogastrointestinal encephalomyopathy",
+        "diseaseFromSource": "Mitochondrial DNA depletion syndrome 4b",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV001198082",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008003",
+        "disease.name": "autosomal dominant progressive external ophthalmoplegia",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0018002",
+        "disease.name": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV001813983",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0016810",
+        "disease.name": "autosomal recessive progressive external ophthalmoplegia",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV001813983",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Diffuse cerebral degeneration in infancy",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive sclerosing poliodystrophy"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008758",
+        "disease.name": "mitochondrial DNA depletion syndrome 4a",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV001004604",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0011835",
+        "disease.name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseFromSource": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0017575",
+        "disease.name": "mitochondrial neurogastrointestinal encephalomyopathy",
+        "diseaseFromSource": "Mitochondrial DNA depletion syndrome 4b",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV001813983",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0017575",
+        "disease.name": "mitochondrial neurogastrointestinal encephalomyopathy",
+        "diseaseFromSource": "Mitochondrial DNA depletion syndrome 4b",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0018002",
+        "disease.name": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008758",
+        "disease.name": "mitochondrial DNA depletion syndrome 4a",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008003",
+        "disease.name": "autosomal dominant progressive external ophthalmoplegia",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED",
+          "MNGIE, POLG-RELATED",
+          "MNGIE, TYMP-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA Depletion Syndrome, MNGIE Form",
+          "Mitochondrial DNA depletion syndrome 1",
+          "Mitochondrial DNA depletion syndrome 1 (MNGIE type)",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Mitochondrial neurogastrointestinal encephalomyopathy syndrome",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "POLIP SYNDROME",
+          "POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0011283",
+        "disease.name": "mitochondrial DNA depletion syndrome 1",
+        "diseaseFromSource": "Mitochondrial DNA depletion syndrome 1",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV000515354",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0016810",
+        "disease.name": "autosomal recessive progressive external ophthalmoplegia",
+        "diseaseFromSource": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008758",
+        "disease.name": "mitochondrial DNA depletion syndrome 4a",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0017575",
+        "disease.name": "mitochondrial neurogastrointestinal encephalomyopathy",
+        "diseaseFromSource": "Mitochondrial DNA depletion syndrome 4b",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV001731286",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0011835",
+        "disease.name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseFromSource": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV001813983",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      },
+      {
+        "alleleOrigins": [
+          "germline"
+        ],
+        "approvedSymbol": "POLG",
+        "clinicalSignificances": [
+          "pathogenic"
+        ],
+        "cohortPhenotypes": [
+          "Alpers Syndrome",
+          "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis",
+          "Alpers disease",
+          "Alpers progressive infantile poliodystrophy",
+          "Alpers-Huttenlocher Syndrome",
+          "Cerebellar ataxia infantile with progressive external ophthalmoplegia",
+          "Diffuse cerebral degeneration in infancy",
+          "Epilepsy, progressive myoclonic, type 5",
+          "Infantile poliodystrophy",
+          "MNGIE, POLG-RELATED",
+          "Mitochondrial DNA Depletion Syndrome 4A",
+          "Mitochondrial DNA depletion syndrome 4A (Alpers type)",
+          "Mitochondrial DNA depletion syndrome 4B, MNGIE type",
+          "Mitochondrial DNA depletion syndrome 4b",
+          "Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related",
+          "Neuronal degeneration of childhood with liver disease, progressive",
+          "Poliodystrophia cerebri progressiva",
+          "Progressive cerebral poliodystrophy",
+          "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
+          "Progressive external ophthalmoplegia, autosomal recessive 1",
+          "Progressive sclerosing poliodystrophy",
+          "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",
+          "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
+          "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
+        ],
+        "confidence": "criteria provided, single submitter",
+        "directionOnTrait": "risk",
+        "disease.id": "MONDO_0008758",
+        "disease.name": "mitochondrial DNA depletion syndrome 4a",
+        "diseaseFromSource": "Progressive sclerosing poliodystrophy",
+        "diseaseId": "MONDO_0044970",
+        "diseaseName": "mitochondrial disease",
+        "studyId": "RCV001813983",
+        "targetId": "ENSG00000140521",
+        "variantId": "15_89327201_C_T"
+      }
+    ]
+  }
+}`),
+  };
+}
\ No newline at end of file
diff --git a/packages/sections/src/variant/EVA/Description.tsx b/packages/sections/src/variant/EVA/Description.tsx
new file mode 100644
index 000000000..be03b02b6
--- /dev/null
+++ b/packages/sections/src/variant/EVA/Description.tsx
@@ -0,0 +1,18 @@
+import { Link } from "ui";
+
+type DescriptionProps = {
+  variantId: string;
+};
+
+function Description({ variantId }: DescriptionProps) {
+  return (
+    <>
+      Genetic variation from clinical submissions associating <strong>{variantId}</strong> to a disease/phenotype. Source:{" "}
+      <Link to="https://www.ebi.ac.uk/eva/" external>
+        EVA
+      </Link>
+    </>
+  );
+}
+
+export default Description;
diff --git a/packages/sections/src/variant/EVA/Summary.tsx b/packages/sections/src/variant/EVA/Summary.tsx
new file mode 100644
index 000000000..437471d25
--- /dev/null
+++ b/packages/sections/src/variant/EVA/Summary.tsx
@@ -0,0 +1,42 @@
+import { SummaryItem, usePlatformApi } from "ui";
+
+import { definition } from ".";
+import { dataTypesMap } from "../../dataTypes";
+// import EVA_SUMMARY from "./EVASummaryQuery.gql";
+
+function Summary() {
+  
+  // !! THIS IS UGLY BUT AVOIDS ADDING TYPES IN dataType FILE FOR NOW
+  type dataTypesMapType = {
+    [index: string]: number;
+  };
+  const dataTypesMapTyped = dataTypesMap as dataTypesMapType; 
+
+  // !! USE PLACEHOLDER REQUEST FOR NOW !!
+  // const request = usePlatformApi(EVA_SUMMARY);
+  const request = {
+    loading: false,
+    error: undefined,
+    data: true,  // data is not actually used by summary - only cares if there is data
+  };
+
+  return (
+    <SummaryItem
+      definition={definition}
+      request={request}
+      renderSummary={() => {}}  // !! renderSummary PROP NOT USED ANYMORE ANYWAY? 
+      // renderSummary={({ evaSummary }) => {
+      //   const { count } = evaSummary;
+      //   return `${count} ${count === 1 ? "entry" : "entries"}`;
+      // }}
+      subText={dataTypesMapTyped.genetic_association}
+    />
+  );
+}
+
+// !!!!!!!!!!!
+// Summary.fragments = {
+//   evaSummary: EVA_SUMMARY,
+// };
+
+export default Summary;
\ No newline at end of file
diff --git a/packages/sections/src/variant/EVA/index.ts b/packages/sections/src/variant/EVA/index.ts
new file mode 100644
index 000000000..2e223cb27
--- /dev/null
+++ b/packages/sections/src/variant/EVA/index.ts
@@ -0,0 +1,16 @@
+
+// !!!!!!!!!!
+// ADD POSSIBILITY FOR PRIVATE SECTIONS IN PARTNER PAGE
+// !!!!!!!!!!
+// import { isPrivateVariantSection } from "../../utils/partnerPreviewUtils";
+
+// !! NEED TO TYPE WHATEVER PASSED INTO HASDATA - SEE SUMMARY
+const id = "eva";
+export const definition = {
+  id,
+  name: "ClinVar",
+  shortName: "CV",
+  hasData: () => true,   // !! CHANGE WHEN USE GQL !!
+  // hasData: ({ eva }) => eva.count > 0,
+  isPrivate: false,   // isPrivateVariantSection(id),
+};
diff --git a/packages/sections/src/variant/InSilicoPredictors/Body.tsx b/packages/sections/src/variant/InSilicoPredictors/Body.tsx
new file mode 100644
index 000000000..a618f622a
--- /dev/null
+++ b/packages/sections/src/variant/InSilicoPredictors/Body.tsx
@@ -0,0 +1,135 @@
+// import { useQuery } from "@apollo/client";
+import { Typography } from "@mui/material";
+import { Link, SectionItem, Tooltip, PublicationsDrawer, DataTable } from "ui";
+import { definition } from "../InSilicoPredictors";
+import Description from "../InSilicoPredictors/Description";
+import { epmcUrl } from "../../utils/urls";
+import { identifiersOrgLink } from "../../utils/global";
+import { defaultRowsPerPageOptions, naLabel, sectionsBaseSizeQuery,
+} from "../../constants";
+// import UNIPROT_VARIANTS_QUERY from "./UniprotVariantsQuery.gql";
+
+function getColumns(label: string) {
+  return [
+    {
+      id: "method",
+      label: "Method",
+    },
+    {
+      id: "assessment",
+      label: "Prediction",
+      renderCell: ({ assessment, flag }) => (
+        flag
+          ? (
+            <Tooltip
+              title={
+                <>
+                  <Typography variant="subtitle2" display="block" align="center">
+                    Flag: {flag}
+                  </Typography>
+                </>
+              }
+              showHelpIcon
+            >
+              {assessment ?? naLabel}
+            </Tooltip>
+          ) : (
+            assessment ?? naLabel
+          )
+      )
+    },
+    {
+      id: "score",
+      label: "Score",
+    },
+  ];
+}
+
+type BodyProps = {
+  id: string,
+  label: string,
+  entity: string,
+};
+
+
+export function Body({ id, label, entity }) {
+
+  // const variables = {
+  //   ensemblId: ensgId,
+  //   efoId,
+  //   size: sectionsBaseSizeQuery,
+  // };
+
+  const columns = getColumns(label);
+
+  // const request = useQuery(UNIPROT_VARIANTS_QUERY, {
+  //   variables,
+  // });
+  const request = mockQuery();
+
+  return (
+    <SectionItem
+      definition={definition}
+      request={request}
+      entity={entity}
+      renderDescription={() => <Description variantId={id} />}
+      renderBody={() => {
+        // const rows = request.data.variant.inSilicoPredictors;
+        const rows =
+          [...request.data.variant.inSilicoPredictors].sort((row1, row2) => {
+            return row1.method.localeCompare(row2.method);
+          }); 
+        return (
+          <DataTable
+            columns={columns}
+            rows={rows}
+            dataDownloader
+            rowsPerPageOptions={defaultRowsPerPageOptions}
+            // query={UNIPROT_VARIANTS_QUERY.loc.source.body}
+            // variables={variables}
+          />
+        );
+      }}
+    />
+  );
+}
+
+export default Body;
+
+function mockQuery() {
+  return {
+    loading: false,
+    error: undefined,
+    data: JSON.parse(`
+{ 
+  "variant": {
+    "inSilicoPredictors": [
+      {
+        "method": "alphaMissense",
+        "score": 0.077,
+        "assessment": "likely_benign"
+      },
+      {
+        "method": "phred scaled CADD",
+        "score": 7.293
+      },
+      {
+        "method": "sift max",
+        "score": 0.2,
+        "assessment": "MODERATE"
+      },
+      {
+        "method": "polyphen max",
+        "score": 0.069,
+        "assessment": "tolerated"
+      },
+      {
+        "method": "loftee",
+        "assessment": "high-confidence LoF variant",
+        "flag": "PHYLOCSF_WEAK"
+      }
+    ]
+  }
+}`),
+  };
+}
diff --git a/packages/sections/src/variant/InSilicoPredictors/Description.tsx b/packages/sections/src/variant/InSilicoPredictors/Description.tsx
new file mode 100644
index 000000000..7125d6ea3
--- /dev/null
+++ b/packages/sections/src/variant/InSilicoPredictors/Description.tsx
@@ -0,0 +1,18 @@
+import { Link } from "ui";
+
+type DescriptionProps = {
+  variantId: string;
+};
+
+function Description({ variantId }: DescriptionProps) {
+  return (
+    <>
+      Predicted functional effect of <strong>{variantId}</strong>. {" "}Source:{" "}
+      <Link to="https://www.ensembl.org/info/docs/tools/vep/index.html" external>
+        VEP
+      </Link>
+    </>
+  );
+}
+
+export default Description;
\ No newline at end of file
diff --git a/packages/sections/src/variant/InSilicoPredictors/Summary.tsx b/packages/sections/src/variant/InSilicoPredictors/Summary.tsx
new file mode 100644
index 000000000..fd8d58567
--- /dev/null
+++ b/packages/sections/src/variant/InSilicoPredictors/Summary.tsx
@@ -0,0 +1,42 @@
+import { SummaryItem, usePlatformApi } from "ui";
+
+import { definition } from ".";
+import { dataTypesMap } from "../../dataTypes";
+// import UNIPROT_VARIANTS_SUMMARY from "./UniprotVariantsSummaryQuery.gql";
+
+function Summary() {
+
+  // !! THIS IS UGLY BUT AVOIDS ADDING TYPES IN dataType FILE FOR NOW
+  type dataTypesMapType = {
+    [index: string]: number;
+  };
+  const dataTypesMapTyped = dataTypesMap as dataTypesMapType; 
+
+  // !! USE PLACEHOLDER REQUEST FOR NOW !!
+  // const request = usePlatformApi(UNIPROT_VARIANTS_SUMMARY);
+  const request = {
+    loading: false,
+    error: undefined,
+    data: true,  // data is not actually used by summary - only cares if there is data
+  };
+  
+  return (
+    <SummaryItem
+      definition={definition}
+      request={request}
+      renderSummary={() => {}}  // !! renderSummary PROP NOT USED ANYMORE ANYWAY?
+      // renderSummary={({ uniprotVariantsSummary }) => {
+      //   const { count } = uniprotVariantsSummary;
+      //   return `${count} ${count === 1 ? "entry" : "entries"}`;
+      // }}
+      subText={dataTypesMapTyped.genetic_association}  // !! LEAVE AS GENETIC ASSOCITION FOR NOW
+    />
+  );
+}
+
+// !!!!!!!!!!!!!
+// Summary.fragments = {
+//   UniprotVariantsSummary: UNIPROT_VARIANTS_SUMMARY,
+// };
+
+export default Summary;
diff --git a/packages/sections/src/variant/InSilicoPredictors/index.ts b/packages/sections/src/variant/InSilicoPredictors/index.ts
new file mode 100644
index 000000000..2b681c2fd
--- /dev/null
+++ b/packages/sections/src/variant/InSilicoPredictors/index.ts
@@ -0,0 +1,11 @@
+// import { isPrivateEvidenceSection } from "../../utils/partnerPreviewUtils";
+
+const id = "in_silico_predictors";
+export const definition = {
+  id,
+  name: "In silico predictors",
+  shortName: "VP",
+  // UPDATE HERE ONCE HAVE PROPER DATA
+  hasData: data => true,  // data.uniprotVariantsSummary.count > 0,
+  isPrivate: false,  // isPrivateEvidenceSection(id),
+};
diff --git a/packages/sections/src/variant/UniProtVariants/Body.tsx b/packages/sections/src/variant/UniProtVariants/Body.tsx
new file mode 100644
index 000000000..103e99baf
--- /dev/null
+++ b/packages/sections/src/variant/UniProtVariants/Body.tsx
@@ -0,0 +1,289 @@
+// import { useQuery } from "@apollo/client";
+import { Typography } from "@mui/material";
+import { Link, SectionItem, Tooltip, PublicationsDrawer, DataTable } from "ui";
+import { definition } from "../../variant/UniProtVariants";
+import Description from "../../variant/UniProtVariants/Description";
+import { epmcUrl } from "../../utils/urls";
+import { identifiersOrgLink } from "../../utils/global";
+import { defaultRowsPerPageOptions, sectionsBaseSizeQuery,
+} from "../../constants";
+// import UNIPROT_VARIANTS_QUERY from "./UniprotVariantsQuery.gql";
+
+function getColumns(label: string) {
+  return [
+    {
+      id: "targetFromSourceId",
+      label: "Reported protein",
+      renderCell: ({ targetFromSourceId }) => (
+        <Link external to={identifiersOrgLink("uniprot", targetFromSourceId)}>
+          {targetFromSourceId}
+        </Link>
+      ),
+    },
+    {
+      id: "disease.name",
+      label: "Disease/phenotype",
+      renderCell: ({
+            "disease.id": disease_id,
+            "disease.name": disease_name,
+            diseaseFromSource
+          }) => (
+        <Tooltip
+          title={
+            <>
+              <Typography variant="subtitle2" display="block" align="center">
+                Reported disease or phenotype:
+              </Typography>
+              <Typography variant="caption" display="block" align="center">
+                {diseaseFromSource}
+              </Typography>
+            </>
+          }
+          showHelpIcon
+        >
+          <Link to={`/disease/${disease_id}`}>{disease_name}</Link>
+        </Tooltip>
+      ),
+    },
+    {
+      id: "confidence",
+      label: "Confidence",
+    },
+    {
+      label: "Literature",
+      renderCell: ({ literature }) => {
+        const literatureList =
+          literature?.reduce((acc, id) => {
+            if (id !== "NA") {
+              acc.push({
+                name: id,
+                url: epmcUrl(id),
+                group: "literature",
+              });
+            }
+            return acc;
+          }, []) || [];
+
+        return (
+          <PublicationsDrawer entries={literatureList} symbol={label.symbol} name={label.name} />
+        );
+      },
+    },
+  ];
+}
+
+type BodyProps = {
+  id: string,
+  label: string,
+  entity: string,
+};
+
+
+export function Body({ id, label, entity }) {
+
+  // ID IS JUST THE VARIANT ID STRING FOR NOW
+  // const { ensgId, efoId } = id;
+
+  // const variables = {
+  //   ensemblId: ensgId,
+  //   efoId,
+  //   size: sectionsBaseSizeQuery,
+  // };
+
+  const columns = getColumns(label);
+
+  // const request = useQuery(UNIPROT_VARIANTS_QUERY, {
+  //   variables,
+  // });
+  const request = mockQuery();
+
+  return (
+    <SectionItem
+      definition={definition}
+      request={request}
+      entity={entity}
+      renderDescription={() => <Description variantId={id} />}
+      renderBody={({ disease }) => {
+        // const { rows } = disease.uniprotVariantsSummary;
+        const rows = request.data.variant.uniProtVariants;      
+        return (
+          <DataTable
+            columns={columns}
+            rows={rows}
+            dataDownloader
+            showGlobalFilter
+            rowsPerPageOptions={defaultRowsPerPageOptions}
+            // query={UNIPROT_VARIANTS_QUERY.loc.source.body}
+            // variables={variables}
+          />
+        );
+      }}
+    />
+  );
+}
+
+export default Body;
+
+function mockQuery() {
+  return {
+    loading: false,
+    error: undefined,
+    data: JSON.parse(`
+{ 
+  "variant": {
+    "uniProtVariants": [
+      {
+        "variantId": "15_89327201_C_T",
+        "confidence": "high",
+        "diseaseFromSource": "Mitochondrial DNA depletion syndrome 4A",
+        "literature": [
+          "16639411",
+          "15917273",
+          "15477547",
+          "14635118",
+          "15824347",
+          "11431686",
+          "15122711",
+          "26942291",
+          "12565911",
+          "18828154",
+          "14694057",
+          "15689359",
+          "12707443"
+        ],
+        "targetFromSourceId": "P54098",
+        "target.id": "ENSG00000140521",
+        "target.approvedSymbol": "POLG",
+        "disease.id": "Orphanet_726",
+        "disease.name": "Alpers syndrome"
+      },
+      {
+        "variantId": "15_89327201_C_T",
+        "confidence": "high",
+        "diseaseFromSource": "Mitochondrial DNA depletion syndrome 4A",
+        "literature": [
+          "16639411",
+          "15917273",
+          "15477547",
+          "14635118",
+          "15824347",
+          "11431686",
+          "15122711",
+          "26942291",
+          "12565911",
+          "18828154",
+          "14694057",
+          "15689359",
+          "12707443"
+        ],
+        "targetFromSourceId": "P54098",
+        "target.id": "ENSG00000140521",
+        "target.approvedSymbol": "POLG",
+        "disease.id": "MONDO_0008758",
+        "disease.name": "mitochondrial DNA depletion syndrome 4a"
+      },
+      {
+        "variantId": "15_89327201_C_T",
+        "confidence": "high",
+        "diseaseFromSource": "Sensory ataxic neuropathy dysarthria and ophthalmoparesis",
+        "literature": [
+          "16639411",
+          "15917273",
+          "15477547",
+          "14635118",
+          "15824347",
+          "11431686",
+          "15122711",
+          "26942291",
+          "12565911",
+          "18828154",
+          "14694057",
+          "15689359",
+          "12707443"
+        ],
+        "targetFromSourceId": "P54098",
+        "target.id": "ENSG00000140521",
+        "target.approvedSymbol": "POLG",
+        "disease.id": "MONDO_0011835",
+        "disease.name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"
+      },
+      {
+        "variantId": "15_89327201_C_T",
+        "confidence": "high",
+        "diseaseFromSource": "Spinocerebellar ataxia with epilepsy",
+        "literature": [
+          "16639411",
+          "15917273",
+          "15477547",
+          "14635118",
+          "15824347",
+          "11431686",
+          "15122711",
+          "26942291",
+          "12565911",
+          "18828154",
+          "14694057",
+          "15689359",
+          "12707443"
+        ],
+        "targetFromSourceId": "P54098",
+        "target.id": "ENSG00000140521",
+        "target.approvedSymbol": "POLG",
+        "disease.id": "Orphanet_70595",
+        "disease.name": "Sensory ataxic neuropathy - dysarthria - ophthalmoparesis"
+      },
+      {
+        "variantId": "15_89327201_C_T",
+        "confidence": "high",
+        "diseaseFromSource": "Sensory ataxic neuropathy dysarthria and ophthalmoparesis",
+        "literature": [
+          "16639411",
+          "15917273",
+          "15477547",
+          "14635118",
+          "15824347",
+          "11431686",
+          "15122711",
+          "26942291",
+          "12565911",
+          "18828154",
+          "14694057",
+          "15689359",
+          "12707443"
+        ],
+        "targetFromSourceId": "P54098",
+        "target.id": "ENSG00000140521",
+        "target.approvedSymbol": "POLG",
+        "disease.id": "Orphanet_70595",
+        "disease.name": "Sensory ataxic neuropathy - dysarthria - ophthalmoparesis"
+      },
+      {
+        "variantId": "15_89327201_C_T",
+        "confidence": "high",
+        "diseaseFromSource": "Spinocerebellar ataxia with epilepsy",
+        "literature": [
+          "16639411",
+          "15917273",
+          "15477547",
+          "14635118",
+          "15824347",
+          "11431686",
+          "15122711",
+          "26942291",
+          "12565911",
+          "18828154",
+          "14694057",
+          "15689359",
+          "12707443"
+        ],
+        "targetFromSourceId": "P54098",
+        "target.id": "ENSG00000140521",
+        "target.approvedSymbol": "POLG",
+        "disease.id": "MONDO_0011835",
+        "disease.name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"
+      }
+    ]
+  }
+}`),
+  };
+}
diff --git a/packages/sections/src/variant/UniProtVariants/Description.tsx b/packages/sections/src/variant/UniProtVariants/Description.tsx
new file mode 100644
index 000000000..5f5ecf471
--- /dev/null
+++ b/packages/sections/src/variant/UniProtVariants/Description.tsx
@@ -0,0 +1,18 @@
+import { Link } from "ui";
+
+type DescriptionProps = {
+  variantId: string;
+};
+
+function Description({ variantId }: DescriptionProps) {
+  return (
+    <>
+      Literature-based curation associating <strong>{variantId}</strong>{" "} to a disease/phenotype. Source:{" "}
+      <Link to="https://www.uniprot.org" external>
+        UniProt
+      </Link>
+    </>
+  );
+}
+
+export default Description;
\ No newline at end of file
diff --git a/packages/sections/src/variant/UniProtVariants/Summary.tsx b/packages/sections/src/variant/UniProtVariants/Summary.tsx
new file mode 100644
index 000000000..ba8a8ed22
--- /dev/null
+++ b/packages/sections/src/variant/UniProtVariants/Summary.tsx
@@ -0,0 +1,42 @@
+import { SummaryItem, usePlatformApi } from "ui";
+
+import { definition } from ".";
+import { dataTypesMap } from "../../dataTypes";
+// import UNIPROT_VARIANTS_SUMMARY from "./UniprotVariantsSummaryQuery.gql";
+
+function Summary() {
+
+  // !! THIS IS UGLY BUT AVOIDS ADDING TYPES IN dataType FILE FOR NOW
+  type dataTypesMapType = {
+    [index: string]: number;
+  };
+  const dataTypesMapTyped = dataTypesMap as dataTypesMapType; 
+
+  // !! USE PLACEHOLDER REQUEST FOR NOW !!
+  // const request = usePlatformApi(UNIPROT_VARIANTS_SUMMARY);
+  const request = {
+    loading: false,
+    error: undefined,
+    data: true,  // data is not actually used by summary - only cares if there is data
+  };
+  
+  return (
+    <SummaryItem
+      definition={definition}
+      request={request}
+      renderSummary={() => {}}  // !! renderSummary PROP NOT USED ANYMORE ANYWAY?
+      // renderSummary={({ uniprotVariantsSummary }) => {
+      //   const { count } = uniprotVariantsSummary;
+      //   return `${count} ${count === 1 ? "entry" : "entries"}`;
+      // }}
+      subText={dataTypesMapTyped.genetic_association}
+    />
+  );
+}
+
+// !!!!!!!!!!!!!
+// Summary.fragments = {
+//   UniprotVariantsSummary: UNIPROT_VARIANTS_SUMMARY,
+// };
+
+export default Summary;
diff --git a/packages/sections/src/variant/UniProtVariants/index.ts b/packages/sections/src/variant/UniProtVariants/index.ts
new file mode 100644
index 000000000..a653651b0
--- /dev/null
+++ b/packages/sections/src/variant/UniProtVariants/index.ts
@@ -0,0 +1,11 @@
+// import { isPrivateEvidenceSection } from "../../utils/partnerPreviewUtils";
+
+const id = "uniprot_variants";
+export const definition = {
+  id,
+  name: "UniProt variants",
+  shortName: "UV",
+  // !! UPDATE HERE ONCE HAVE PROPER DATA
+  hasData: data => true,  // data.uniprotVariantsSummary.count > 0,
+  isPrivate: false,  // isPrivateEvidenceSection(id),
+};