Related gene-specific medical variations for Gene (Select 6508) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2665088	NM_005070.4(SLC4A3):c.1456A>G (p.Lys486Glu)	SLC4A3 (K486E +1 more)	Single nucleotide variant (missense variant +1 more)	Short QT syndrome 7	GUncertain significance
Select item 64559	NM_005070.4(SLC4A3):c.681C>T (p.Ala227=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 64558	NM_005070.4(SLC4A3):c.664C>A (p.Pro222Thr)	SLC4A3 (P222T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64557	NM_005070.4(SLC4A3):c.371C>T (p.Pro124Leu)	SLC4A3 (P124L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64556	NM_005070.4(SLC4A3):c.3066C>T (p.Ser1022=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 64555	NM_005070.4(SLC4A3):c.2784G>A (p.Gly928=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 64553	NM_005070.4(SLC4A3):c.146A>G (p.Asp49Gly)	SLC4A3 (D49G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar