ClinVar for MedGen (Select 1809292) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16868371.	NM_001077268.2(ZFYVE19):c.667C>T (p.Arg223Ter) GRCh37: Chr15:41102364 GRCh38: Chr15:40810166	ZFYVE19	R213, R48	Cholestasis, progressive familial intrahepatic, 9	Pathogenic (Apr 27, 2022)	no assertion criteria provided
Select item 16868362.	NM_001077268.2(ZFYVE19):c.379C>T (p.Gln127Ter) GRCh37: Chr15:41101416 GRCh38: Chr15:40809218	ZFYVE19	Q117*	Cholestasis, progressive familial intrahepatic, 9	Pathogenic (Apr 27, 2022)	no assertion criteria provided
Select item 16868353.	NM_001077268.2(ZFYVE19):c.547C>T (p.Arg183Ter) GRCh37: Chr15:41102144 GRCh38: Chr15:40809946	ZFYVE19	R173, R8	Cholestasis, progressive familial intrahepatic, 9	Pathogenic (Apr 27, 2022)	no assertion criteria provided
Select item 16868344.	NM_001077268.2(ZFYVE19):c.514C>T (p.Arg172Ter) GRCh37: Chr15:41102111 GRCh38: Chr15:40809913	ZFYVE19	R162*	Cholestasis, progressive familial intrahepatic, 9	Pathogenic (Apr 27, 2022)	no assertion criteria provided
Select item 16868335.	NM_001077268.2(ZFYVE19):c.226A>G (p.Met76Val) GRCh37: Chr15:41100013 GRCh38: Chr15:40807815	ZFYVE19		Cholestasis, progressive familial intrahepatic, 9	Pathogenic (Apr 27, 2022)	no assertion criteria provided
Select item 16868326.	NM_001077268.2(ZFYVE19):c.314C>G (p.Ser105Ter) GRCh37: Chr15:41101351 GRCh38: Chr15:40809153	ZFYVE19	S95*	Cholestasis, progressive familial intrahepatic, 9	Pathogenic (Apr 27, 2022)	no assertion criteria provided

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