"Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1301678	NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter)	ATP8B1, ATP8B1-AS1 (R1014* +1 more)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 1 +1 more	GPathogenic
Select item 2498172	NM_001374385.1(ATP8B1):c.2800A>G (p.Arg934Gly)	ATP8B1, ATP8B1-AS1 (R884G +1 more)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 1	GLikely pathogenic