"MVZ Dr. Eberhard & Partner Dortmund"[submitter] AND "ATP7B"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067116	NM_000053.4(ATP7B):c.3412G>C (p.Asp1138His)	ATP7B (D1025H +27 more)	Single nucleotide variant (missense variant)	Wilson disease	GLikely pathogenic
Select item 3338425	NM_000053.4(ATP7B):c.2747T>C (p.Leu916Pro)	ATP7B (L486P +15 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 996351	NM_000053.4(ATP7B):c.2355G>A (p.Lys785=)	ATP7B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely pathogenic

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