"Gharavi Laboratory, Columbia University"[submitter] AND "ATP7B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 592061	NM_000053.4(ATP7B):c.4090G>C (p.Val1364Leu)	ATP7B (V1364L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591361	NM_000053.4(ATP7B):c.3680C>A (p.Ala1227Asp)	ATP7B (A1227D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591311	NM_000053.4(ATP7B):c.3571A>G (p.Met1191Val)	ATP7B (M1191V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591810	NM_000053.4(ATP7B):c.3280_3281insGTAT (p.Phe1094fs)	ATP7B (F1010fs +4 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 591446	NM_000053.4(ATP7B):c.2989G>A (p.Val997Met)	ATP7B (V997M +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 591036	NM_000053.4(ATP7B):c.811T>C (p.Cys271Arg)	ATP7B (C271R)	Single nucleotide variant (missense variant +1 more)	Wilson disease +1 more	GUncertain significance

ClinVar