"GenomeConnect - Invitae Patient Insights Network"[submitter] AND "ATP - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 968828	NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln)	ATP7B (R1233Q +4 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 1069926	NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg)	ATP7B (H1069R +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic

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ClinVar