"Baylor Genetics"[submitter] AND "NR1H4"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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

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