Related gene-specific medical variations for Gene (Select 3738) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359079	NM_002232.5(KCNA3):c.1366G>A (p.Gly456Arg)	KCNA3 (G456R)	Single nucleotide variant (missense variant +1 more)	KCNA3-associated disorder	GLikely pathogenic
Select item 3113031	NM_002232.5(KCNA3):c.91G>C (p.Gly31Arg)	KCNA3, LOC129931151 (G31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113028	NM_002232.5(KCNA3):c.67C>T (p.Pro23Ser)	KCNA3, LOC129931151 (P23S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542428	NM_002232.5(KCNA3):c.37C>T (p.Pro13Ser)	KCNA3, LOC129931151 (P13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487292	NM_002232.5(KCNA3):c.58G>T (p.Ala20Ser)	KCNA3, LOC129931151 (A20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288744	NM_002232.5(KCNA3):c.49C>A (p.Arg17Ser)	KCNA3, LOC129931151 (R17S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar