11 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Two single nucleotide polymorphisms in the von Hippel-Lindau tumor suppressor gene in Taiwanese with renal cell carcinoma
    4
    1. ClingenBaseline 02 Nov 2026
      583FemaleIYesAGND* AGLOH (G)

      PatientID: 5

      KindredID: 5

      Case: F, 83Y0M, Taiwanese (East-Asian)

      DiseaseAssertion: renal cell carcinoma

      FamilyInfo: N/A

      CohortInfo: 7 of 19 patients presenting with clear cell renal cell carcinoma were found to be heterozygous for the germline variant rs779805 (c.-195G>A) in VHL. All of these patients also presented with the germline variant rs1642742 in VHL (c.*294G>A).

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: She had stage I clear cell renal cell carcinoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 21982469

      SupplementalData: Yes - Additional file 1: Figure S1

      Variant: c.-195G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 342397 https://www.ncbi.nlm.nih.gov/clinvar/variation/342397

      CAID: N/A

      gnomAD: 0.5796 https://gnomad.broadinstitute.org/variant/3-10183337-G-A

      VariantEvidence: RFLP analysis was used to screen for the allele genotype by BsaJ I digestion methods. Heterozygous for both, she also presented with the germline variant c.*294G>A in VHL. LOH (G) of rs1642742 was found in the tumor tissue as well

      MutationType: 5_prime_UTR_variant

      CivicName: c.-195G>A AND c.*294G>A

      MultipleGeneVariants: Germline, VHL, c.*294G>A

      InheritancePattern:AutosomalDominant Ethnicity:Taiwanese Ethnicity:EastAsian DiseaseEntity:clearcellrenalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:c.-195G>A NoFamilyInfo MultipleVHLVariants SupplementalData MutationType:5_prime_UTR_variant ClinVarID:342397 ClinVarID:Yes cDNAposition:-195 CivicName:c.-195G>AANDc.*294G>A inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 01 Nov 2026
      166FemaleIIIYesAGLOH (G)AGLOH (G)

      PatientID: 1

      KindredID: 1

      Case: F, 66Y0M, Taiwanese (East-Asian)

      DiseaseAssertion: renal cell carcinoma

      FamilyInfo: N/A

      CohortInfo: 7 of 19 patients presenting with clear cell renal cell carcinoma were found to be heterozygous for the germline variant rs779805 (c.-195G>A) in VHL. All of these patients also presented with the germline variant rs1642742 in VHL (c.*294G>A).

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: She had stage III clear cell renal cell carcinoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 21982469

      SupplementalData: Yes - Additional file 1: Figure S1

      Variant: c.-195G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 342397 https://www.ncbi.nlm.nih.gov/clinvar/variation/342397

      CAID: N/A

      gnomAD: 0.5796 https://gnomad.broadinstitute.org/variant/3-10183337-G-A

      VariantEvidence: RFLP analysis was used to screen for the allele genotype by BsaJ I digestion methods. Heterozygous for both, she also presented with the germline variant c.*294G>A in VHL. LOH (G) of both mutations was found in the tumor tissue as well

      MutationType: 5_prime_UTR_variant

      CivicName: c.-195G>A AND c.*294G>A

      MultipleGeneVariants: Germline, VHL, c.*294G>A

      InheritancePattern:AutosomalDominant Ethnicity:Taiwanese Ethnicity:EastAsian DiseaseEntity:clearcellrenalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:c.-195G>A ClinVarID:342397 ClinVarID:Yes NoFamilyInfo SupplementalData MultipleVHLVariants MutationType:5_prime_UTR_variant cDNAposition:-195 CivicName:c.-195G>AANDc.*294G>A inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 01 Nov 2026
      651MaleIYesAGLOH (G)AGLOH (A)

      PatientID: 6

      KindredID: 6

      Case: M, 51Y0M, Taiwanese (East-Asian)

      DiseaseAssertion: renal cell carcinoma

      FamilyInfo: N/A

      CohortInfo: 8 of 19 patients presenting with clear cell renal cell carcinoma were found to be heterozygous for the germline variant rs1642742 in VHL (c.*294G>A). All but one of these patients (7/8) also presented with the germline variant rs779805 (c.-195G>A) in VHL.

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: He had stage I clear cell renal cell carcinoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 21982469

      SupplementalData: Yes - Additional file 1: Figure S1

      Variant: c.*294G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 342407 https://www.ncbi.nlm.nih.gov/clinvar/variation/342407/

      CAID: N/A

      gnomAD: 0.5911 https://gnomad.broadinstitute.org/variant/3-10191943-G-A

      VariantEvidence: Heterozygous for both, he also presented with the germline variant c.-195G>A in VHL. LOH (G) of rs779805 and LOH (A) of rs1642742 was found in the tumor tissue as well

      MutationType: 3_prime_UTR_variant

      CivicName: c.-195G>A AND c.*294G>A

      MultipleGeneVariants: Germline, VHL, c.-195G>A

      InheritancePattern:AutosomalDominant Ethnicity:Taiwanese Ethnicity:EastAsian AssumedRefSeq:NM_000551.3 Mutation:Germline DiseaseEntity:clearcellrenalcellcarcinoma cDNAposition:294 CivicName:c.*294G>A MutationType:3_prime_UTR_variant ClinVarID:342407 ClinVarID:Yes MultipleVHLVariants SupplementalData NoFamilyInfo CivicName:c.-195G>AANDc.*294G>A inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    4. ClingenBaseline 01 Nov 2026
      277FemaleIYesAGLOH (A)AGLOH (A)

      PatientID: 2

      KindredID: 2

      Case: F, 77Y0M, Taiwanese (East-Asian)

      DiseaseAssertion: renal cell carcinoma

      FamilyInfo: N/A

      CohortInfo: 8 of 19 patients presenting with clear cell renal cell carcinoma were found to be heterozygous for the germline variant rs1642742 in VHL (c.*294G>A). All but one of these patients (7/8) also presented with the germline variant rs779805 (c.-195G>A) in VHL.

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: She had stage I clear cell renal cell carcinoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 21982469

      SupplementalData: Yes - Additional file 1: Figure S1

      Variant: c.*294G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 342407 https://www.ncbi.nlm.nih.gov/clinvar/variation/342407/

      CAID: N/A

      gnomAD: 0.5911 https://gnomad.broadinstitute.org/variant/3-10191943-G-A

      VariantEvidence: Heterozygous for both, she also presented with the germline variant c.-195G>A in VHL. LOH (A) of both mutations was found in the tumor tissue as well

      MutationType: 3_prime_UTR_variant

      CivicName: c.-195G>A AND c.*294G>A

      MultipleGeneVariants: Germline, VHL, c.-195G>A

      InheritancePattern:AutosomalDominant Ethnicity:Taiwanese Ethnicity:EastAsian DiseaseEntity:clearcellrenalcellcarcinoma AssumedRefSeq:NM_000551.3 Mutation:Germline MutationType:3_prime_UTR_variant cDNAposition:294 CivicName:c.*294G>A MultipleVHLVariants SupplementalData ClinVarID:342407 ClinVarID:Yes NoFamilyInfo CivicName:c.-195G>AANDc.*294G>A inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4168206/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel-Lindau disease: case report
    1
    1. ClingenBaseline 01 Nov 2026
      Gene sequencing revealed a heterozygous germline mutation ({"type":"entrez-nucleotide","attrs":{"text":"NM_000551.3","term_id":"319655736","term_text":"NM_000551.3"}}NM_000551.3(VHL):c.464-1G > C) in the splice site in intron 2 of VHL in the DNA from the peripheral blood of the male patient and nine of his family members (male 4, female 5) (Fig. 3a). In total, five of these nine patients from three generations underwent a total of nine surgical resections for CNS-related HGBs, with an average of 1.8 ± 1.3 surgeries (range: 1–4). All resected lesions were located in the cerebellum. Figure 4 shows the genetic investigation used in this study. In the first, second, and third generations, the ages at which the first operation for CNS HGBs was performed were 67, 32.3, and 17 years, respectively. Notably, the age at which the first operation for CNS HGBs was performed was younger in the children (younger generation) than in their parents (older generation). Additionally, only the mother of the male patient with the {"type":"entrez-nucleotide","attrs":{"text":"NM_000551.3","term_id":"319655736","term_text":"NM_000551.3"}}NM_000551.3(VHL):c.464-1G > C variant was diagnosed with renal cell carcinoma and underwent left nephrectomy.

      PatientID: III-1

      KindredID: 1

      Case: M, 17Y0M, Chinese (East Asian)

      DiseaseAssertion: assumed VHL

      FamilyInfo: A total of 9 of family members (4 male; 5 female) in a 3 generation family were associated with VHL at the splice mutation: c.464-1G>C. 5 members underwent cerebellar HB lesion resections, including his mother, aunt and uncle, and 1 member had RCC. (See Fig 4).

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: He had his first operation for HB at 17Y. No further details were discussed.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.464-1G>C

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223220 https://www.ncbi.nlm.nih.gov/clinvar/variation/223220

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.464-1G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:EastAsian Ethnicity:Chinese DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:17 MutationType:splice_site_variant CivicName:SpliceSite(c.464-1G>C) AminoAcidChange:N/A ProteinPosition:N/A cDNAposition:N/A ClinVarID:223220 ClinVarID:Yes Familial FamilyPedigree AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7528461/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study
    1
    1. ClingenBaseline 31 Oct 2026
      89VHLE2c.460C>Tp.P154SPP16595991F390Yes39R- PGL6.8No

      PatientID: 89

      KindredID: 89

      Case: F, 39Y0M, Chinese (East Asian)

      DiseaseAssertion: Paraganglioma

      FamilyInfo: No family history.

      CasePresentingHPOs: Paraganglioma (HP:0002668)

      CaseHPOFreeText: retroperitoneal paraganglioma 6.8cm in size; metastatic. Age of diagnosis at 39Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P154S (c.460C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 486714 https://www.ncbi.nlm.nih.gov/clinvar/variation/486714

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Described as a pathogenic variant, according to the ACMG guidelines at the time of publication.

      MutationType: missense_variant;transition

      CivicName: P154S (c.460C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 Ethnicity:Chinese Ethnicity:EastAsian DiseaseEntity:paraganglioma AgeOfPresentation:paraganglioma:39 ProteinPosition:154 cDNAposition:460 MutationType:missense_variant;transition CivicName:P154S(c.460C>T) AminoAcidChange:PROtoSER ClinVarID:486714 ClinVarID:Yes NonFamilial PreviousTesting:MAX/RET/NF1/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7761866/
  5. Oct 2026
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study
    2
    1. ClingenBaseline 29 Oct 2026
      92VHLE3c.499C>Tp.R167WPP7987306M9922Nobil-PCC,R- PGL5No

      PatientID: 92

      KindredID: 92

      Case: M, 31Y0M, Chinese (East Asian)

      DiseaseAssertion: Assumed VHL

      FamilyInfo: No family history.

      CasePresentingHPOs: Pheochromocytoma; Paraganglioma (HP:0002666; HP:0002668)

      CaseHPOFreeText: retroperitoneal paraganglioma and bilateral pheochromocytoma, with a biggest tumor size of 5cm. Age of onset and diagnosis at 9Y. 22 years later they were confirmed with a genetic mutation

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167W (c.499C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2218, https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: N/A

      gnomAD: 0.000007954, https://gnomad.broadinstitute.org/variant/3-10191506-C-T?dataset=gnomad_r2_1

      VariantEvidence: Described as a pathogenic variant, according to the ACMG guidelines at the time of publication.

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma AgeOfPresentation:pheochromocytoma:9 AgeOfPresentation:paraganglioma:9 NonFamilial Ethnicity:Chinese Ethnicity:EastAsian CivicName:R167W(c.499C>T) cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP MutationType:missense_variant;transition PreviousTesting:MAX/RET/NF1/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 28 Oct 2026
      87VHLE2c.414A>Gp.P138PPP30946460M363622NoPCC2.3No

      PatientID: 87

      KindredID: 87

      Case: M, 38Y0M, Chinese (East Asian)

      DiseaseAssertion: Pheochromocytoma

      FamilyInfo: No family history.

      CasePresentingHPOs: Pheochromocytoma (HP:0002666)

      CaseHPOFreeText: Pheochromocytoma symptomatic and diagnosed at age 36Y, 2.3cm in size. 2 years later he underwent PPGL genetic testing.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P138P (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206 https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Described as a pathogenic variant, according to the ACMG guidelines at the time of publication.

      MutationType: synonymous_variant; missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 Ethnicity:Chinese Ethnicity:EastAsian DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:36 NonFamilial ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition ProteinPosition:138 AminoAcidChange:PROtoPRO cDNAposition:414 CivicName:P138=(c.414A>G) MutationType:synonymous_variant PreviousTesting:MAX/RET/NF1/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7761866/
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Two single nucleotide polymorphisms in the von Hippel-Lindau tumor suppressor gene in Taiwanese with renal cell carcinoma
    3
    1. ClingenBaseline 25 Oct 2026
      453FemaleIIYesAGLOH (A)AGND*

      PatientID: 4

      KindredID: 4

      Case: F, 53Y0M, Taiwanese (East-Asian)

      DiseaseAssertion: renal cell carcinoma

      FamilyInfo: N/A

      CohortInfo: 7 of 19 patients presenting with clear cell renal cell carcinoma were found to be heterozygous for the germline variant rs779805 (c.-195G>A) in VHL. All of these patients also presented with the germline variant rs1642742 in VHL (c.*294G>A).

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: She had stage II clear cell renal cell carcinoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 21982469

      SupplementalData: Yes - Additional file 1: Figure S1

      Variant: c.-195G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 342397 https://www.ncbi.nlm.nih.gov/clinvar/variation/342397

      CAID: N/A

      gnomAD: 0.5796 https://gnomad.broadinstitute.org/variant/3-10183337-G-A

      VariantEvidence: RFLP analysis was used to screen for the allele genotype by BsaJ I digestion methods. Heterozygous for both, she also presented with the germline variant c.*294G>A in VHL. LOH (A) of this mutation was found in the tumor tissue as well

      MutationType: 5_prime_UTR_variant

      CivicName: c.-195G>A AND c.*294G>A

      MultipleGeneVariants: Germline, VHL, c.*294G>A

      InheritancePattern:AutosomalDominant Ethnicity:Taiwanese Ethnicity:EastAsian DiseaseEntity:clearcellrenalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:c.-195G>A ClinVarID:342397 ClinVarID:Yes SupplementalData NoFamilyInfo MultipleVHLVariants MutationType:5_prime_UTR_variant cDNAposition:-195 CivicName:c.-195G>AANDc.*294G>A inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 25 Oct 2026
      350MaleIYesAGLOH (G)AGLOH (G)

      PatientID: 3

      KindredID: 3

      Case: M, 50Y0M, Taiwanese (East-Asian)

      DiseaseAssertion: renal cell carcinoma

      FamilyInfo: N/A

      CohortInfo: 8 of 19 patients presenting with clear cell renal cell carcinoma were found to be heterozygous for the germline variant rs1642742 in VHL (c.*294G>A). All but one of these patients (7/8) also presented with the germline variant rs779805 (c.-195G>A) in VHL.

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: He had stage I clear cell renal cell carcinoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 21982469

      SupplementalData: Yes - Additional file 1: Figure S1

      Variant: c.*294G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 342407 https://www.ncbi.nlm.nih.gov/clinvar/variation/342407/

      CAID: N/A

      gnomAD: 0.5911 https://gnomad.broadinstitute.org/variant/3-10191943-G-A

      VariantEvidence: Heterozygous for both, he also presented with the germline variant c.-195G>A in VHL. LOH (G) of both mutations was found in the tumor tissue as well

      MutationType: 3_prime_UTR_variant

      CivicName: c.-195G>A AND c.*294G>A

      MultipleGeneVariants: Germline, VHL, c.-195G>A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:clearcellrenalcellcarcinoma Ethnicity:Taiwanese Ethnicity:EastAsian AssumedRefSeq:NM_000551.3 CivicName:c.*294G>A cDNAposition:294 MutationType:3_prime_UTR_variant MultipleVHLVariants NoFamilyInfo SupplementalData ClinVarID:342407 ClinVarID:Yes CivicName:c.-195G>AANDc.*294G>A inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    3. ClingenBaseline 22 Oct 2026
      770FemaleIV# YesAAAGAGLOH (G)

      PatientID: 7

      KindredID: 7

      Case: F, 70Y0M, Taiwanese (East-Asian)

      DiseaseAssertion: renal cell carcinoma

      FamilyInfo: N/A

      CohortInfo: 8 of 19 patients presenting with clear cell renal cell carcinoma were found to be heterozygous for the germline variant rs1642742 in VHL (c.*294G>A). All but one of these patients (7/8) also presented with the germline variant rs779805 (c.-195G>A) in VHL.

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: She had stage IV clear cell renal cell carcinoma with metastasis

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 21982469

      SupplementalData: Yes - Additional file 1: Figure S1

      Variant: c.*294G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 342407 https://www.ncbi.nlm.nih.gov/clinvar/variation/342407/

      CAID: N/A

      gnomAD: 0.5911 https://gnomad.broadinstitute.org/variant/3-10191943-G-A

      VariantEvidence: LOH (G) of this mutation was found in the tumor tissue as well

      MutationType: 3_prime_UTR_variant

      CivicName: c.-195G>A AND c.*294G>A

      MultipleGeneVariants: Somatic, VHL, c.-195G>A

      InheritancePattern:AutosomalDominant Ethnicity:Taiwanese Ethnicity:EastAsian DiseaseEntity:clearcellrenalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:294 MutationType:3_prime_UTR_variant CivicName:c.*294G>A ClinVarID:342407 MultipleVHLVariants SupplementalData NoFamilyInfo ClinVarID:Yes CivicName:c.-195G>AANDc.*294G>A inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4168206/