ClinVar for MedGen (Select 462022) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 16

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18052821.	NM_001193315.2(VIPAS39):c.-1+408G>C GRCh37: Chr14:77923430 GRCh38: Chr14:77457087	VIPAS39		Arthrogryposis, renal dysfunction, and cholestasis 2	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 17018182.	NM_001193315.2(VIPAS39):c.1141C>T (p.Arg381Ter) GRCh37: Chr14:77900223 GRCh38: Chr14:77433880	VIPAS39	R381, R286, R301, R332, R336, R350, R370*	Arthrogryposis, renal dysfunction, and cholestasis 2	Pathogenic (Aug 18, 2022)	no assertion criteria provided
Select item 17018173.	NM_001193315.2(VIPAS39):c.177_179delinsAAA (p.Trp59_Ser60delinsTer) GRCh37: Chr14:77919659-77919661 GRCh38: Chr14:77453316-77453318	VIPAS39		Arthrogryposis, renal dysfunction, and cholestasis 2	Pathogenic (Aug 18, 2022)	no assertion criteria provided
Select item 13017684.	NM_001193315.2(VIPAS39):c.632-14T>C GRCh37: Chr14:77909019 GRCh38: Chr14:77442676	VIPAS39		Arthrogryposis, renal dysfunction, and cholestasis 2, not provided	Benign/Likely benign (Jun 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10287475.	NM_001193315.2(VIPAS39):c.1366G>A (p.Asp456Asn) GRCh37: Chr14:77894808 GRCh38: Chr14:77428465	VIPAS39	D456N, D407N	Arthrogryposis, renal dysfunction, and cholestasis 2	Uncertain significance (Nov 18, 2019)	criteria provided, single submitter
Select item 10287466.	NM_001193315.2(VIPAS39):c.1003A>G (p.Thr335Ala) GRCh37: Chr14:77901646 GRCh38: Chr14:77435303	VIPAS39	T286A, T335A	Arthrogryposis, renal dysfunction, and cholestasis 2	Uncertain significance (Jun 8, 2020)	criteria provided, single submitter
Select item 6275367.	NM_001193315.2(VIPAS39):c.618_626dup (p.Arg206_Leu208dup) GRCh37: Chr14:77909466-77909467 GRCh38: Chr14:77443123-77443124	VIPAS39		Arthrogryposis, renal dysfunction, and cholestasis 2	Likely pathogenic	criteria provided, single submitter
Select item 5223998.	NM_001193315.2(VIPAS39):c.1184G>A (p.Trp395Ter) GRCh37: Chr14:77896106 GRCh38: Chr14:77429763	VIPAS39	W395, W346	Arthrogryposis, renal dysfunction, and cholestasis 2	Pathogenic (Sep 18, 2017)	no assertion criteria provided
Select item 5223989.	NM_001193315.2(VIPAS39):c.677A>G (p.His226Arg) GRCh37: Chr14:77908960 GRCh38: Chr14:77442617	VIPAS39	H226R, H177R	Arthrogryposis, renal dysfunction, and cholestasis 2	Likely pathogenic (Sep 18, 2017)	no assertion criteria provided
Select item 49868310.	NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg) GRCh37: Chr14:77894719 GRCh38: Chr14:77428376	VIPAS39	S485R, S436R	not provided, Arthrogryposis, renal dysfunction, and cholestasis 2	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 28500111.	NM_001193315.2(VIPAS39):c.494G>A (p.Arg165Gln) GRCh37: Chr14:77914847 GRCh38: Chr14:77448504	VIPAS39	R165Q, R116Q	Arthrogryposis, renal dysfunction, and cholestasis 2, not provided	Uncertain significance (Oct 21, 2019)	criteria provided, multiple submitters, no conflicts
Select item 11512.	NM_001193315.2(VIPAS39):c.2T>G (p.Met1Arg) GRCh37: Chr14:77920444 GRCh38: Chr14:77454101	VIPAS39	M1R	Arthrogryposis, renal dysfunction, and cholestasis 2	Pathogenic (Apr 1, 2010)	no assertion criteria provided
Select item 11413.	NM_001193315.2(VIPAS39):c.871C>T (p.Gln291Ter) GRCh37: Chr14:77902228 GRCh38: Chr14:77435885	VIPAS39	Q291, Q242	Arthrogryposis, renal dysfunction, and cholestasis 2	Pathogenic (Apr 1, 2010)	no assertion criteria provided
Select item 11314.	NM_001193315.2(VIPAS39):c.658C>T (p.Arg220Ter) GRCh37: Chr14:77908979 GRCh38: Chr14:77442636	VIPAS39	R220, R171	Arthrogryposis, renal dysfunction, and cholestasis 2	Pathogenic (Apr 1, 2010)	no assertion criteria provided
Select item 11215.	NM_001193315.2(VIPAS39):c.749_753del (p.Thr250fs) GRCh37: Chr14:77907418-77907422 GRCh38: Chr14:77441075-77441079	VIPAS39	T201fs, T250fs	Arthrogryposis, renal dysfunction, and cholestasis 2	Pathogenic (Apr 1, 2010)	no assertion criteria provided
Select item 11116.	NM_001193315.2(VIPAS39):c.535C>T (p.Gln179Ter) GRCh37: Chr14:77910654 GRCh38: Chr14:77444311	VIPAS39	Q179, Q130	Arthrogryposis, renal dysfunction, and cholestasis 2	Pathogenic (Apr 1, 2010)	no assertion criteria provided