ClinVar for MedGen (Select 934714) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24344311.	NM_001206979.2(NR1H4):c.380G>A (p.Cys127Tyr) GRCh37: Chr12:100904856 GRCh38: Chr12:100511078	NR1H4	C127Y, C137Y	Cholestasis, progressive familial intrahepatic, 5	Uncertain significance (Jan 25, 2019)	criteria provided, single submitter
Select item 16836272.	NM_001206979.2(NR1H4):c.831+1G>T GRCh37: Chr12:100930389 GRCh38: Chr12:100536611	NR1H4		Cholestasis, progressive familial intrahepatic, 5	Likely pathogenic (Oct 19, 2021)	criteria provided, single submitter
Select item 13395493.	NM_001206979.2(NR1H4):c.887C>T (p.Thr296Ile) GRCh37: Chr12:100930781 GRCh38: Chr12:100537003	NR1H4	T245I, T292I, T296I, T302I, T306I	Cholestasis, progressive familial intrahepatic, 5	Likely pathogenic (Dec 28, 2021)	criteria provided, single submitter
Select item 8044674.	NM_001206979.2(NR1H4):c.1034del (p.Pro345fs) GRCh37: Chr12:100934551 GRCh38: Chr12:100540773	NR1H4	P294fs, P345fs, P351fs, P355fs, P341fs	Cholestasis, progressive familial intrahepatic, 5	Likely pathogenic (Jun 20, 2019)	criteria provided, single submitter
Select item 5960675.	NM_001206979.2(NR1H4):c.268C>T (p.Arg90Cys) GRCh37: Chr12:100904744 GRCh38: Chr12:100510966	NR1H4	R90C, R100C	Cholestasis, progressive familial intrahepatic, 5, not provided	Uncertain significance (Jun 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5951916.	NM_001206979.2(NR1H4):c.1A>G (p.Met1Val) GRCh37: Chr12:100887102 GRCh38: Chr12:100493324	NR1H4	M1V	Cholestasis, progressive familial intrahepatic, 5, not provided	Uncertain significance (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2191647.	NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter) GRCh37: Chr12:100926316 GRCh38: Chr12:100532538	NR1H4	R176, R186	not provided, Progressive familial intrahepatic cholestasis type 1	Pathogenic (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2191638.	NG_029843.1:g.23704_55438del GRCh37: Chr12:100886254-100917988 GRCh38: Chr12:100492476-100524210	NR1H4		Progressive familial intrahepatic cholestasis type 1	Pathogenic (Dec 17, 2015)	criteria provided, single submitter
Select item 2191629.	NM_001206979.2(NR1H4):c.419_420insAAA (p.Tyr139_Asn140insLys) GRCh37: Chr12:100904893-100904894 GRCh38: Chr12:100511115-100511116	NR1H4		Progressive familial intrahepatic cholestasis type 1	Pathogenic (Dec 17, 2015)	criteria provided, single submitter