Related gene-specific medical variations for Gene (Select 489) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131522	NM_005173.4(ATP2A3):c.33C>G (p.Asp11Glu)	ATP2A3, LOC130060006 (D11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131521	NM_005173.4(ATP2A3):c.2956T>C (p.Tyr986His)	ATP2A3, LOC126862465 (Y986H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059913	NM_005173.4(ATP2A3):c.15T>C (p.His5=)	ATP2A3, LOC130060006	Single nucleotide variant (synonymous variant)	ATP2A3-related disorder	GBenign
Select item 3056302	NM_005173.4(ATP2A3):c.2863-5G>A	ATP2A3, LOC126862465	Single nucleotide variant (intron variant)	ATP2A3-related disorder	GBenign
Select item 2543200	NM_005173.4(ATP2A3):c.77C>T (p.Pro26Leu)	ATP2A3, LOC130060006 (P26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783748	NM_005173.4(ATP2A3):c.2980+691C>T	ATP2A3, LOC126862465	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar