"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ATP8B1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 498699	NM_001374385.1(ATP8B1):c.3155T>G (p.Leu1052Arg)	ATP8B1-AS1, ATP8B1 (L1052R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595193	NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter)	ATP8B1, ATP8B1-AS1 (R952* +1 more)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 1 +1 more	GPathogenic
Select item 282576	NM_001374385.1(ATP8B1):c.1498T>C (p.Tyr500His)	ATP8B1 (Y500H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 381740	NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)	ATP8B1 (E429A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 259815	NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)	ATP8B1 (I393V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 327489	NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)	ATP8B1 (G358S +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 289557	NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)	ATP8B1 (F305I +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 198532	NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)	ATP8B1 (K203E +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity