ClinVar for MedGen (Select 1794175) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441829	NM_152672.6(SLC51A):c.437G>A (p.Arg146Lys)	SLC51A (R146K)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 6	GUncertain significance
Select item 1199252	NM_152672.6(SLC51A):c.556C>T (p.Gln186Ter)	SLC51A	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 6	GPathogenic