C2609268[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13692	NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser)	ABCB4 (P1161S +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 13687	NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter)	ABCB4 (R957*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 13697	NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)	ABCB4 (R590Q)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 39841	NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly)	ABCB4 (R545G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13693	NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs)	ABCB4 (Q443fs)	Indel (frameshift variant)	Low phospholipid associated cholelithiasis +1 more	GPathogenic
Select item 13690	NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)	ABCB4 (S320F)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +3 more	GPathogenic/Likely pathogenic
Select item 13691	NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)	ABCB4 (T175A)	Single nucleotide variant (missense variant)	Cholestasis, intrahepatic, of pregnancy, 3 +3 more	GBenign/Likely benign

ClinVar