Evidence Registry
× Note: The data shown here is NOT approved by the ClinGen expert panel(s)
CA351748085
Gene: VHL
NC_000003.12:g.10141983G>T
CM000665.2:g.10141983G>T
NC_000003.10:g.10158667G>T
NC_000003.11:g.10183667G>T
CM000665.1:g.10183667G>T
NG_008212.3:g.5349G>T
LRG_322:g.5349G>T
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PM4
Uncertain Significance - Insufficient Evidence

Evidence Links 2

CA020454
Gene: VHL
NC_000003.12:g.10149823G>A
CM000665.2:g.10149823G>A
NC_000003.10:g.10166507G>A
NC_000003.11:g.10191507G>A
CM000665.1:g.10191507G>A
NG_008212.3:g.13189G>A
LRG_322:g.13189G>A
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PS1, PS3, PS4, PP1, PP4, PP2, PM1
Pathogenic

Evidence Links 23

CA020246
Gene: VHL
NC_000003.12:g.10142139T>C
CM000665.2:g.10142139T>C
NC_000003.10:g.10158823T>C
NC_000003.11:g.10183823T>C
CM000665.1:g.10183823T>C
NG_008212.3:g.5505T>C
LRG_322:g.5505T>C
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP4, PP2, PP1
Uncertain Significance - Insufficient Evidence

Evidence Links 11

CA351753726
Gene: VHL
NC_000003.12:g.10146530C>G
CM000665.2:g.10146530C>G
NC_000003.10:g.10163214C>G
NC_000003.11:g.10188214C>G
CM000665.1:g.10188214C>G
NG_008212.3:g.9896C>G
LRG_322:g.9896C>G
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP1, PP2
Uncertain Significance - Insufficient Evidence

Evidence Links 3

CA357133
Gene: VHL
NC_000003.12:g.10149793C>T
CM000665.2:g.10149793C>T
NC_000003.10:g.10166477C>T
NC_000003.11:g.10191477C>T
CM000665.1:g.10191477C>T
NG_008212.3:g.13159C>T
LRG_322:g.13159C>T
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP1, PP2
Uncertain Significance - Insufficient Evidence

Evidence Links 4

CA020413
Gene: VHL
NC_000003.12:g.10149805G>A
CM000665.2:g.10149805G>A
NC_000003.10:g.10166489G>A
NC_000003.11:g.10191489G>A
CM000665.1:g.10191489G>A
NG_008212.3:g.13171G>A
LRG_322:g.13171G>A
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PS4, PP4, PP1, PP2
Likely Pathogenic

Evidence Links 12

CA020450
Gene: VHL
NC_000003.12:g.10149822C>T
CM000665.2:g.10149822C>T
NC_000003.10:g.10166506C>T
NC_000003.11:g.10191506C>T
CM000665.1:g.10191506C>T
NG_008212.3:g.13188C>T
LRG_322:g.13188C>T
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PS4, PP4, PP2, PP1
Likely Pathogenic

Evidence Links 19

CA351756245
Gene: VHL
NC_000003.12:g.10149856T>C
CM000665.2:g.10149856T>C
NC_000003.10:g.10166540T>C
NC_000003.11:g.10191540T>C
CM000665.1:g.10191540T>C
NG_008212.3:g.13222T>C
LRG_322:g.13222T>C
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP1, PP4, PP2
Uncertain Significance - Insufficient Evidence

Evidence Links 6

CA351749221
Gene: VHL
NC_000003.12:g.10142073T>A
CM000665.2:g.10142073T>A
NC_000003.10:g.10158757T>A
NC_000003.11:g.10183757T>A
CM000665.1:g.10183757T>A
NG_008212.3:g.5439T>A
LRG_322:g.5439T>A
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP1
Uncertain Significance - Insufficient Evidence

Evidence Links 2

CA020069
Gene: VHL
NC_000003.12:g.10142027del
CM000665.2:g.10142027del
NC_000003.10:g.10158711del
NC_000003.11:g.10183711del
CM000665.1:g.10183711del
NG_008212.3:g.5393del
LRG_322:g.5393del
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PVS1, PP1, PM4
Pathogenic

Evidence Links 4

CA357036
Gene: VHL
NC_000003.12:g.10142064C>T
CM000665.2:g.10142064C>T
NC_000003.10:g.10158748C>T
NC_000003.11:g.10183748C>T
CM000665.1:g.10183748C>T
NG_008212.3:g.5430C>T
LRG_322:g.5430C>T
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PVS1, PP1, PM4
Pathogenic

Evidence Links 8

CA351749283
Gene: VHL
NC_000003.12:g.10142079A>C
CM000665.2:g.10142079A>C
NC_000003.10:g.10158763A>C
NC_000003.11:g.10183763A>C
CM000665.1:g.10183763A>C
NG_008212.3:g.5445A>C
LRG_322:g.5445A>C
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP4
Uncertain Significance - Insufficient Evidence

Evidence Links 2

CA020131
Gene: VHL
NC_000003.12:g.10142080A>G
CM000665.2:g.10142080A>G
NC_000003.10:g.10158764A>G
NC_000003.11:g.10183764A>G
CM000665.1:g.10183764A>G
NG_008212.3:g.5446A>G
LRG_322:g.5446A>G
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PS2, PP4, PP2, PP1
Likely Pathogenic

Evidence Links 9

CA357095
Gene: VHL
NC_000003.12:g.10142080A>C
CM000665.2:g.10142080A>C
NC_000003.10:g.10158764A>C
NC_000003.11:g.10183764A>C
CM000665.1:g.10183764A>C
NG_008212.3:g.5446A>C
LRG_322:g.5446A>C
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP1
Uncertain Significance - Insufficient Evidence

Evidence Links 2

CA16621914
Gene: VHL
NC_000003.12:g.10142086G>T
CM000665.2:g.10142086G>T
NC_000003.10:g.10158770G>T
NC_000003.11:g.10183770G>T
CM000665.1:g.10183770G>T
NG_008212.3:g.5452G>T
LRG_322:g.5452G>T
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PS2, PP1, PP2, PP4
Likely Pathogenic

Evidence Links 7

CA020174
Gene: VHL
NC_000003.12:g.10142103C>G
CM000665.2:g.10142103C>G
NC_000003.10:g.10158787C>G
NC_000003.11:g.10183787C>G
CM000665.1:g.10183787C>G
NG_008212.3:g.5469C>G
LRG_322:g.5469C>G
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP2
Uncertain Significance - Insufficient Evidence

Evidence Links 2

CA020186
Gene: VHL
NC_000003.12:g.10142104C>T
CM000665.2:g.10142104C>T
NC_000003.10:g.10158788C>T
NC_000003.11:g.10183788C>T
CM000665.1:g.10183788C>T
NG_008212.3:g.5470C>T
LRG_322:g.5470C>T
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP1, PP4, PP2
Uncertain Significance - Insufficient Evidence

Evidence Links 5

CA351750671
Gene: VHL
NC_000003.12:g.10142109T>A
CM000665.2:g.10142109T>A
NC_000003.10:g.10158793T>A
NC_000003.11:g.10183793T>A
CM000665.1:g.10183793T>A
NG_008212.3:g.5475T>A
LRG_322:g.5475T>A
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP2, PP1
Uncertain Significance - Insufficient Evidence

Evidence Links 4

CA357091
Gene: VHL
NC_000003.12:g.10142179G>A
CM000665.2:g.10142179G>A
NC_000003.10:g.10158863G>A
NC_000003.11:g.10183863G>A
CM000665.1:g.10183863G>A
NG_008212.3:g.5545G>A
LRG_322:g.5545G>A
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP1
Uncertain Significance - Insufficient Evidence

Evidence Links 2

CA040305
Gene: VHL
NC_000003.12:g.10142180C>G
CM000665.2:g.10142180C>G
NC_000003.10:g.10158864C>G
NC_000003.11:g.10183864C>G
CM000665.1:g.10183864C>G
NG_008212.3:g.5546C>G
LRG_322:g.5546C>G
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP4
Uncertain Significance - Insufficient Evidence

Evidence Links 2

CA16602183
Gene: VHL
NC_000003.12:g.10142183C>A
CM000665.2:g.10142183C>A
NC_000003.10:g.10158867C>A
NC_000003.11:g.10183867C>A
CM000665.1:g.10183867C>A
NG_008212.3:g.5549C>A
LRG_322:g.5549C>A
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP4, PP1
Uncertain Significance - Insufficient Evidence

Evidence Links 2

CA020294
Gene: VHL
NC_000003.12:g.10146524G>T
CM000665.2:g.10146524G>T
NC_000003.10:g.10163208G>T
NC_000003.11:g.10188208G>T
CM000665.1:g.10188208G>T
NG_008212.3:g.9890G>T
LRG_322:g.9890G>T
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP1
Uncertain Significance - Insufficient Evidence

Evidence Links 3

CA351754021
Gene: VHL
NC_000003.12:g.10146577T>A
CM000665.2:g.10146577T>A
NC_000003.10:g.10163261T>A
NC_000003.11:g.10188261T>A
CM000665.1:g.10188261T>A
NG_008212.3:g.9943T>A
LRG_322:g.9943T>A
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PVS1, PP1, PM4
Pathogenic

Evidence Links 4

CA432421926
Gene: VHL
NC_000003.12:g.10146635del
CM000665.2:g.10146635del
NC_000003.10:g.10163319del
NC_000003.11:g.10188319del
CM000665.1:g.10188319del
NG_008212.3:g.10001del
LRG_322:g.10001del
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PVS1
Uncertain Significance - Insufficient Evidence

Evidence Links 2

CA351756117
Gene: VHL
NC_000003.12:g.10149807T>C
CM000665.2:g.10149807T>C
NC_000003.10:g.10166491T>C
NC_000003.11:g.10191491T>C
CM000665.1:g.10191491T>C
NG_008212.3:g.13173T>C
LRG_322:g.13173T>C
Von Hippel-Lindau disease
(OMIM:193300 )
Guideline: ACMG2015-Guidelines
Contributors
CIViC VHL-EP ClinGen
Codes: PP4, PP1
Uncertain Significance - Insufficient Evidence

Evidence Links 4

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