"Institute for Genomic Medicine, Nationwide Children's Hospital"[submi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 35728	NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)	ATP7B (R1319* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 35716	NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 812709	NM_000053.4(ATP7B):c.1947-19T>A	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GLikely pathogenic

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