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Links from MedGen

Items: 16

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:77923430
GRCh38:
Chr14:77457087
VIPAS39Arthrogryposis, renal dysfunction, and cholestasis 2Likely benign
(Feb 2, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr14:77900223
GRCh38:
Chr14:77433880
VIPAS39R381*, R286*, R301*, R332*, R336*, R350*, R370*Arthrogryposis, renal dysfunction, and cholestasis 2Pathogenic
(Aug 18, 2022)
no assertion criteria provided
3.
GRCh37:
Chr14:77919659-77919661
GRCh38:
Chr14:77453316-77453318
VIPAS39Arthrogryposis, renal dysfunction, and cholestasis 2Pathogenic
(Aug 18, 2022)
no assertion criteria provided
4.
GRCh37:
Chr14:77909019
GRCh38:
Chr14:77442676
VIPAS39Arthrogryposis, renal dysfunction, and cholestasis 2, not providedBenign/Likely benign
(Jun 15, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr14:77894808
GRCh38:
Chr14:77428465
VIPAS39D456N, D407NArthrogryposis, renal dysfunction, and cholestasis 2Uncertain significance
(Nov 18, 2019)
criteria provided, single submitter
6.
GRCh37:
Chr14:77901646
GRCh38:
Chr14:77435303
VIPAS39T286A, T335AArthrogryposis, renal dysfunction, and cholestasis 2Uncertain significance
(Jun 8, 2020)
criteria provided, single submitter
7.
GRCh37:
Chr14:77909466-77909467
GRCh38:
Chr14:77443123-77443124
VIPAS39Arthrogryposis, renal dysfunction, and cholestasis 2Likely pathogeniccriteria provided, single submitter
8.
GRCh37:
Chr14:77896106
GRCh38:
Chr14:77429763
VIPAS39W395*, W346*Arthrogryposis, renal dysfunction, and cholestasis 2Pathogenic
(Sep 18, 2017)
no assertion criteria provided
9.
GRCh37:
Chr14:77908960
GRCh38:
Chr14:77442617
VIPAS39H226R, H177RArthrogryposis, renal dysfunction, and cholestasis 2Likely pathogenic
(Sep 18, 2017)
no assertion criteria provided
10.
GRCh37:
Chr14:77894719
GRCh38:
Chr14:77428376
VIPAS39S485R, S436Rnot provided, Arthrogryposis, renal dysfunction, and cholestasis 2Conflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr14:77914847
GRCh38:
Chr14:77448504
VIPAS39R165Q, R116QArthrogryposis, renal dysfunction, and cholestasis 2, not providedUncertain significance
(Oct 21, 2019)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr14:77920444
GRCh38:
Chr14:77454101
VIPAS39M1RArthrogryposis, renal dysfunction, and cholestasis 2Pathogenic
(Apr 1, 2010)
no assertion criteria provided
13.
GRCh37:
Chr14:77902228
GRCh38:
Chr14:77435885
VIPAS39Q291*, Q242*Arthrogryposis, renal dysfunction, and cholestasis 2Pathogenic
(Apr 1, 2010)
no assertion criteria provided
14.
GRCh37:
Chr14:77908979
GRCh38:
Chr14:77442636
VIPAS39R220*, R171*Arthrogryposis, renal dysfunction, and cholestasis 2Pathogenic
(Apr 1, 2010)
no assertion criteria provided
15.
GRCh37:
Chr14:77907418-77907422
GRCh38:
Chr14:77441075-77441079
VIPAS39T201fs, T250fsArthrogryposis, renal dysfunction, and cholestasis 2Pathogenic
(Apr 1, 2010)
no assertion criteria provided
16.
GRCh37:
Chr14:77910654
GRCh38:
Chr14:77444311
VIPAS39Q179*, Q130*Arthrogryposis, renal dysfunction, and cholestasis 2Pathogenic
(Apr 1, 2010)
no assertion criteria provided
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