ClinVar for MedGen (Select 934714) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237163	NM_001206979.2(NR1H4):c.79G>T (p.Gly27Cys)	NR1H4 (G27C)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GPathogenic
Select item 3064862	NM_001206979.2(NR1H4):c.883G>T (p.Ala295Ser)	NR1H4 (A244S +4 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GUncertain significance
Select item 2687828	NM_001206979.2(NR1H4):c.976G>C (p.Gly326Arg)	NR1H4 (G275R +4 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GLikely pathogenic
Select item 2687827	NM_001206979.2(NR1H4):c.1280del (p.Gln427fs)	NR1H4 (Q376fs +4 more)	Deletion (frameshift variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GPathogenic
Select item 2434431	NM_001206979.2(NR1H4):c.380G>A (p.Cys127Tyr)	NR1H4 (C127Y +1 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GUncertain significance
Select item 1683627	NM_001206979.2(NR1H4):c.831+1G>T	NR1H4	Single nucleotide variant (splice donor variant)	Cholestasis, progressive familial intrahepatic, 5	GLikely pathogenic
Select item 1339549	NM_001206979.2(NR1H4):c.887C>T (p.Thr296Ile)	NR1H4 (T245I +4 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GLikely pathogenic
Select item 804467	NM_001206979.2(NR1H4):c.1034del (p.Pro345fs)	NR1H4 (P294fs +4 more)	Deletion (frameshift variant +1 more)	Cholestasis, progressive familial intrahepatic, 5	GLikely pathogenic
Select item 596067	NM_001206979.2(NR1H4):c.268C>T (p.Arg90Cys)	NR1H4 (R90C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 595191	NM_001206979.2(NR1H4):c.1A>G (p.Met1Val)	NR1H4 (M1V)	Single nucleotide variant (missense variant +2 more)	Cholestasis, progressive familial intrahepatic, 5 +1 more	GUncertain significance
Select item 219164	NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter)	NR1H4 (R176* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 219163	NG_029843.1:g.23704_55438del	NR1H4	Deletion	Progressive familial intrahepatic cholestasis type 1	GPathogenic
Select item 219162	NM_001206979.2(NR1H4):c.419_420insAAA (p.Tyr139_Asn140insLys)	NR1H4	Insertion (inframe_insertion +1 more)	Progressive familial intrahepatic cholestasis type 1	GPathogenic