"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518408	NM_001001344.3(ATP2B3):c.790+17G>C	ATP2B3	Single nucleotide variant (intron variant)	X-linked progressive cerebellar ataxia	GBenign
Select item 518409	NM_001001344.3(ATP2B3):c.1473A>G (p.Gly491=)	ATP2B3	Single nucleotide variant (synonymous variant)	X-linked progressive cerebellar ataxia +1 more	GBenign
Select item 518410	NM_001001344.3(ATP2B3):c.2326+11C>T	ATP2B3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 518411	NM_001001344.3(ATP2B3):c.2592G>C (p.Val864=)	ATP2B3	Single nucleotide variant (synonymous variant)	X-linked progressive cerebellar ataxia	GBenign
Select item 518412	NM_001001344.3(ATP2B3):c.2839+14G>T	ATP2B3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 518413	NM_001001344.3(ATP2B3):c.3052-5C>T	ATP2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 518414	NM_001001344.3(ATP2B3):c.3518C>T (p.Ala1173Val)	ATP2B3 (A1173V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

ClinVar