C0019202[trait identifier] AND "Johns Hopkins Genomics, Johns Hopkins - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 312379	NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)	ATP7B (I1230V +4 more)	Single nucleotide variant (missense variant)	Wilson disease +3 more	GConflicting classifications of pathogenicity
Select item 2575235	NM_000053.4(ATP7B):c.3323A>C (p.Asn1108Thr)	ATP7B (N1012T +26 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3848	NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)	ATP7B (H1069Q +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 188725	NM_000053.4(ATP7B):c.2731-2A>G	ATP7B	Single nucleotide variant (splice acceptor variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 188883	NM_000053.4(ATP7B):c.2532del (p.Val845fs)	ATP7B (V761fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1704391	NM_000053.4(ATP7B):c.2060A>T (p.Asn687Ile)	ATP7B (N544I +4 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 863093	NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)	ATP7B (R505W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar