ClinVar for MedGen (Select 920) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 587488	NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)	ABCB4 (R1046* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 13697	NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)	ABCB4 (R590Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity