"Baylor Genetics"[submitter] AND "ATP2B3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441939	NM_001001344.3(ATP2B3):c.4G>A (p.Gly2Ser)	ATP2B3 (G2S)	Single nucleotide variant (missense variant)	X-linked progressive cerebellar ataxia	GUncertain significance
Select item 1028404	NM_001001344.3(ATP2B3):c.1976C>T (p.Pro659Leu)	ATP2B3 (P659L)	Single nucleotide variant (missense variant)	X-linked progressive cerebellar ataxia	GUncertain significance
Select item 1033156	NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg)	ATP2B3 (G720R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 560961	NM_001001344.3(ATP2B3):c.3313T>A (p.Phe1105Ile)	ATP2B3 (F1105I)	Single nucleotide variant (missense variant)	X-linked progressive cerebellar ataxia	GUncertain significance
Select item 1028405	NM_001001344.3(ATP2B3):c.3316C>T (p.Arg1106Trp)	ATP2B3 (R1106W)	Single nucleotide variant (missense variant)	X-linked progressive cerebellar ataxia	GUncertain significance
Select item 242886	NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn)	ATP2B3 (K1198N)	Single nucleotide variant (missense variant +1 more)	X-linked progressive cerebellar ataxia	GLikely pathogenic
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic

ClinVar