"Baylor Genetics"[submitter] AND "LOC126806400"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598092	NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)	ABCB11, LOC126806400 (R948C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2680334	NM_003742.4(ABCB11):c.2815-2A>G	ABCB11, LOC126806400	Single nucleotide variant (splice acceptor variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 6594	NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs)	LOC126806400, ABCB11 (K930fs)	Duplication (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GPathogenic
Select item 500467	NM_003742.4(ABCB11):c.2782C>T (p.Arg928Ter)	ABCB11, LOC126806400 (R928*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2680951	NM_003742.4(ABCB11):c.2702G>T (p.Ser901Ile)	ABCB11, LOC126806400 (S901I)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680134	NM_003742.4(ABCB11):c.2688del (p.Phe896fs)	ABCB11, LOC126806400 (F896fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 498679	NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg)	LOC126806400, ABCB11 (G877R)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GConflicting classifications of pathogenicity

ClinVar