"SIB Swiss Institute of Bioinformatics"[submitter] AND "ATP7B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 35707	NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)	ATP7B (K832R +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GBenign
Select item 3862	NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	ATP7B (M645R +1 more)	Single nucleotide variant (missense variant +1 more)	ATP7B-related condition +3 more	GPathogenic/Likely pathogenic
Select item 617913	NM_000053.4(ATP7B):c.1771G>A (p.Gly591Ser)	ATP7B (G591S +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 617909	NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser)	ATP7B (N565S +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 617908	NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser)	ATP7B (L492S +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GLikely pathogenic
Select item 617911	NM_000053.4(ATP7B):c.322T>C (p.Cys108Arg)	ATP7B (C108R)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 189037	NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)	ATP7B (G85V)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 617907	NM_000053.4(ATP7B):c.130T>A (p.Tyr44Asn)	ATP7B (Y44N)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance

ClinVar