C0019202[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 157957	NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)	ATP7B (P1379S +4 more)	Single nucleotide variant (missense variant)	Wilson disease +4 more	GConflicting classifications of pathogenicity
Select item 430725	NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)	ATP7B (I1102T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188808	NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)	ATP7B (G1101R +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 550969	NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)	ATP7B (E1064K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 312383	NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)	ATP7B (G1061E +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 973550	NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter)	ATP7B (Q286*)	Single nucleotide variant (nonsense +1 more)	Wilson disease	GPathogenic

ClinVar