C0796205[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333741	NM_001001344.3(ATP2B3):c.1445G>A (p.Arg482His)	ATP2B3 (R482H)	Single nucleotide variant (missense variant)	X-linked progressive cerebellar ataxia	GUncertain significance
Select item 1333742	NM_001001344.3(ATP2B3):c.2357G>A (p.Arg786Gln)	ATP2B3 (R786Q)	Single nucleotide variant (missense variant)	X-linked progressive cerebellar ataxia	GUncertain significance