"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "KCNA1"[gen - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 883916	NM_000217.3(KCNA1):c.-1043C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 309137	NM_000217.3(KCNA1):c.-235C>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
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 2498542	NM_000217.3(KCNA1):c.30C>A (p.Asp10Glu)	KCNA1, LOC130007218 (D10E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374425	NM_000217.3(KCNA1):c.53A>C (p.His18Pro)	KCNA1 (H18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 447612	NM_000217.3(KCNA1):c.60G>C (p.Gln20His)	KCNA1 (Q20H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 447608	NM_000217.3(KCNA1):c.114C>T (p.Arg38=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1 +1 more	GBenign/Likely benign
Select item 623794	NM_000217.3(KCNA1):c.135G>C (p.Gly45=)	KCNA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 639858	NM_000217.3(KCNA1):c.136C>A (p.Leu46Met)	KCNA1 (L46M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1701180	NM_000217.3(KCNA1):c.191G>A (p.Gly64Asp)	KCNA1 (G64D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676873	NM_000217.3(KCNA1):c.208A>G (p.Met70Val)	KCNA1 (M70V)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 2642592	NM_000217.3(KCNA1):c.216C>T (p.Tyr72=)	KCNA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 195044	NM_000217.3(KCNA1):c.237G>A (p.Glu79=)	KCNA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 2642593	NM_000217.3(KCNA1):c.487T>C (p.Ser163Pro)	KCNA1 (S163P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872570	NM_000217.3(KCNA1):c.508G>A (p.Ala170Thr)	KCNA1 (A170T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642594	NM_000217.3(KCNA1):c.582T>C (p.Asp194=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1 +1 more	GLikely benign
Select item 13486	NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala)	KCNA1 (T226A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1879222	NM_000217.3(KCNA1):c.781G>A (p.Ala261Thr)	KCNA1 (A261T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2642595	NM_000217.3(KCNA1):c.856A>G (p.Thr286Ala)	KCNA1 (T286A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176598	NM_000217.3(KCNA1):c.893G>C (p.Arg298Thr)	KCNA1 (R298T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498543	NM_000217.3(KCNA1):c.920G>A (p.Arg307His)	KCNA1 (R307H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1112154	NM_000217.3(KCNA1):c.1015C>T (p.Leu339=)	KCNA1	Single nucleotide variant (synonymous variant)	KCNA1-related condition +2 more	GLikely benign
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 2842948	NM_000217.3(KCNA1):c.1062G>A (p.Ser354=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1 +1 more	GLikely benign
Select item 309146	NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=)	KCNA1	Single nucleotide variant (synonymous variant)	KCNA1-related condition +4 more	GBenign/Likely benign
Select item 195042	NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly)	KCNA1 (R443G)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 309160	NM_000217.3(KCNA1):c.*786G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 1711333	NM_000217.3(KCNA1):c.*1242T>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 309170	NM_000217.3(KCNA1):c.*1469G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 309183	NM_000217.3(KCNA1):c.*2245C>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +2 more	GConflicting classifications of pathogenicity
Select item 309204	NM_000217.3(KCNA1):c.*3588T>C	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 309225	NM_000217.3(KCNA1):c.*5191G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 806978	GRCh37/hg19 12p13.32(chr12:5020545-5022032)x1	KCNA1	Copy number loss	not provided	GUncertain significance

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Items: 34