Related gene-specific medical variations for Gene (Select 3736) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3020459	NM_000217.3(KCNA1):c.34G>C (p.Ala12Pro)	KCNA1, LOC130007218 (A12P)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2895659	NM_000217.3(KCNA1):c.17G>C (p.Gly6Ala)	KCNA1, LOC130007218 (G6A)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2854855	NM_000217.3(KCNA1):c.40G>T (p.Ala14Ser)	KCNA1, LOC130007218 (A14S)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2783112	NM_000217.3(KCNA1):c.5C>A (p.Thr2Lys)	KCNA1, LOC130007218 (T2K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2689282	NM_000217.3(KCNA1):c.457G>T (p.Val153Leu)	KCNA1 (V153L)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2684253	NM_000217.3(KCNA1):c.357T>C (p.Phe119=)	KCNA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684252	NM_000217.3(KCNA1):c.1371C>T (p.Ile457=)	KCNA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2540056	NM_000217.3(KCNA1):c.25G>A (p.Val9Met)	KCNA1, LOC130007218 (V9M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498542	NM_000217.3(KCNA1):c.30C>A (p.Asp10Glu)	KCNA1, LOC130007218 (D10E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432986	NM_000217.3(KCNA1):c.502G>A (p.Val168Ile)	KCNA1 (V168I)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2432985	NM_000217.3(KCNA1):c.608A>G (p.His203Arg)	KCNA1 (H203R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2131800	NM_000217.3(KCNA1):c.31G>T (p.Glu11Ter)	LOC130007218, KCNA1 (E11*)	Single nucleotide variant (nonsense)	Episodic ataxia type 1	GUncertain significance
Select item 1990086	NM_000217.3(KCNA1):c.44C>T (p.Ala15Val)	KCNA1, LOC130007218 (A15V)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1969965	NM_000217.3(KCNA1):c.48G>A (p.Pro16=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 1721131	NM_000217.3(KCNA1):c.43G>A (p.Ala15Thr)	KCNA1, LOC130007218 (A15T)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1482834	NM_000217.3(KCNA1):c.2T>C (p.Met1Thr)	KCNA1, LOC130007218 (M1T)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 1	GUncertain significance
Select item 1474794	NM_000217.3(KCNA1):c.16G>A (p.Gly6Arg)	KCNA1, LOC130007218 (G6R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1474077	NM_000217.3(KCNA1):c.14C>T (p.Ser5Phe)	KCNA1, LOC130007218 (S5F)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1434900	NM_000217.3(KCNA1):c.6G>A (p.Thr2=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 1404392	NM_000217.3(KCNA1):c.35C>T (p.Ala12Val)	KCNA1, LOC130007218 (A12V)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1360899	NM_000217.3(KCNA1):c.24C>G (p.Asn8Lys)	KCNA1, LOC130007218 (N8K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1348561	NM_000217.3(KCNA1):c.38C>A (p.Ser13Ter)	KCNA1, LOC130007218 (S13*)	Single nucleotide variant (nonsense)	Episodic ataxia type 1	GUncertain significance
Select item 1317250	NM_000217.3(KCNA1):c.47dup (p.His18fs)	KCNA1, LOC130007218 (H18fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1316112	NM_000217.3(KCNA1):c.38C>T (p.Ser13Leu)	KCNA1, LOC130007218 (S13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1159155	NM_000217.3(KCNA1):c.18G>C (p.Gly6=)	LOC130007218, KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 1116884	NM_000217.3(KCNA1):c.24C>T (p.Asn8=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 967035	NM_000217.3(KCNA1):c.2T>G (p.Met1Arg)	KCNA1, LOC130007218 (M1R)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 1	GUncertain significance
Select item 961458	NM_000217.3(KCNA1):c.43G>T (p.Ala15Ser)	KCNA1, LOC130007218 (A15S)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 946822	NM_000217.3(KCNA1):c.1A>T (p.Met1Leu)	KCNA1, LOC130007218 (M1L)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 1	GUncertain significance
Select item 883202	NM_000217.3(KCNA1):c.19G>A (p.Glu7Lys)	KCNA1, LOC130007218 (E7K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 883201	NM_000217.3(KCNA1):c.1A>G (p.Met1Val)	KCNA1, LOC130007218 (M1V)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 1	GBenign
Select item 706304	NM_000217.3(KCNA1):c.6G>T (p.Thr2=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 702194	NM_000217.3(KCNA1):c.42C>T (p.Ala14=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 642028	NM_000217.3(KCNA1):c.30C>G (p.Asp10Glu)	KCNA1, LOC130007218 (D10E)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 623795	NM_000217.3(KCNA1):c.415G>A (p.Glu139Lys)	KCNA1 (E139K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623794	NM_000217.3(KCNA1):c.135G>C (p.Gly45=)	KCNA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 591423	NM_000217.3(KCNA1):c.803C>A (p.Thr268Lys)	KCNA1 (T268K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586087	NM_000217.3(KCNA1):c.12G>T (p.Met4Ile)	KCNA1, LOC130007218 (M4I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431378	NM_000217.3(KCNA1):c.1183G>T (p.Ala395Ser)	KCNA1 (A395S)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GLikely pathogenic
Select item 374743	NM_000217.3(KCNA1):c.1054G>C (p.Ala352Pro)	KCNA1 (A352P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 309142	NM_000217.3(KCNA1):c.-27C>T	KCNA1, LOC130007218	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 21127	NM_000217.3(KCNA1):c.677C>T (p.Thr226Met)	KCNA1 (T226M)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	Gnot provided

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Links from Gene

Items: 42