C0019202[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188839	NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	ATP7B (R1151C +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GPathogenic/Likely pathogenic
Select item 3848	NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)	ATP7B (H1069Q +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GPathogenic
Select item 188781	NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)	ATP7B (A1003V +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3860	NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	ATP7B (R969Q +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 420002	NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)	ATP7B (L641S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 520762	NM_000053.4(ATP7B):c.1285+5G>T	ATP7B	Single nucleotide variant (intron variant)	ATP7B-related disorder +3 more	GPathogenic/Likely pathogenic

ClinVar