"GeneDx"[submitter] AND "KCNA1"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 58207	GRCh38/hg38 12p13.32-13.31(chr12:4832052-5947324)x3	ANO2, KCNA1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 3378352	NM_000217.3(KCNA1):c.-540+1G>T	KCNA1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 309140	NM_000217.3(KCNA1):c.-134G>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +2 more	GBenign/Likely benign
Select item 309141	NM_000217.3(KCNA1):c.-110G>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +2 more	GBenign
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 1317250	NM_000217.3(KCNA1):c.47dup (p.His18fs)	KCNA1, LOC130007218 (H18fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1318467	NM_000217.3(KCNA1):c.94G>C (p.Asp32His)	KCNA1 (D32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316825	NM_000217.3(KCNA1):c.94G>T (p.Asp32Tyr)	KCNA1 (D32Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1191407	NM_000217.3(KCNA1):c.137T>C (p.Leu46Pro)	KCNA1 (L46P)	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 3363412	NM_000217.3(KCNA1):c.235G>C (p.Glu79Gln)	KCNA1 (E79Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463239	NM_000217.3(KCNA1):c.404G>C (p.Gly135Ala)	KCNA1 (G135A)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 1376408	NM_000217.3(KCNA1):c.410T>C (p.Ile137Thr)	KCNA1 (I137T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2502780	NM_000217.3(KCNA1):c.434C>T (p.Pro145Leu)	KCNA1 (P145L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1023031	NM_000217.3(KCNA1):c.451C>T (p.Arg151Cys)	KCNA1 (R151C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2582099	NM_000217.3(KCNA1):c.515T>C (p.Val172Ala)	KCNA1 (V172A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577733	NM_000217.3(KCNA1):c.553T>C (p.Cys185Arg)	KCNA1 (C185R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738700	NM_000217.3(KCNA1):c.657C>A (p.Asp219Glu)	KCNA1 (D219E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 21127	NM_000217.3(KCNA1):c.677C>T (p.Thr226Met)	KCNA1 (T226M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13492	NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg)	KCNA1 (T226R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GPathogenic
Select item 21128	NM_000217.3(KCNA1):c.684T>C (p.Cys228=)	KCNA1	Single nucleotide variant (synonymous variant)	Myokymia +3 more	GBenign
Select item 3369558	NM_000217.3(KCNA1):c.688A>G (p.Ile230Val)	KCNA1 (I230V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317352	NM_000217.3(KCNA1):c.702C>A (p.Phe234Leu)	KCNA1 (F234L)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 21130	NM_000217.3(KCNA1):c.804G>C (p.Thr268=)	KCNA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 424183	NM_000217.3(KCNA1):c.872T>A (p.Leu291His)	KCNA1 (L291H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809958	NM_000217.3(KCNA1):c.887T>C (p.Leu296Ser)	KCNA1 (L296S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102356	NM_000217.3(KCNA1):c.894G>C (p.Arg298Ser)	KCNA1 (R298S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1009332	NM_000217.3(KCNA1):c.917C>G (p.Ser306Cys)	KCNA1 (S306C)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 3340603	NM_000217.3(KCNA1):c.932G>A (p.Gly311Asp)	KCNA1 (G311D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 427198	NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr)	KCNA1 (I314T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2504723	NM_000217.3(KCNA1):c.976C>G (p.Leu326Val)	KCNA1 (L326V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500475	NM_000217.3(KCNA1):c.988A>T (p.Ile330Phe)	KCNA1 (I330F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 453118	NM_000217.3(KCNA1):c.1126G>C (p.Gly376Arg)	KCNA1 (G376R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 863534	NM_000217.3(KCNA1):c.1150G>A (p.Gly384Arg)	KCNA1 (G384R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 431378	NM_000217.3(KCNA1):c.1183G>T (p.Ala395Ser)	KCNA1 (A395S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 208748	NM_000217.3(KCNA1):c.1202C>T (p.Ala401Val)	KCNA1 (A401V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 13487	NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile)	KCNA1 (V404I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1058791	NM_000217.3(KCNA1):c.1288G>C (p.Val430Leu)	KCNA1 (V430L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 195045	NM_000217.3(KCNA1):c.1296C>G (p.Ser432=)	KCNA1	Single nucleotide variant (synonymous variant)	Myokymia +3 more	GBenign
Select item 2050634	NM_000217.3(KCNA1):c.1347G>A (p.Met449Ile)	KCNA1 (M449I)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 1195360	NM_000217.3(KCNA1):c.1365G>T (p.Met455Ile)	KCNA1 (M455I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505860	NM_000217.3(KCNA1):c.1366G>C (p.Glu456Gln)	KCNA1 (E456Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129313	NM_000217.3(KCNA1):c.1440T>A (p.Thr480=)	KCNA1	Single nucleotide variant (synonymous variant)	Myokymia +3 more	GBenign
Select item 430064	NM_000217.3(KCNA1):c.1466G>A (p.Ser489Asn)	KCNA1 (S489N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363998	NM_000217.3(KCNA1):c.1478C>G (p.Thr493Ser)	KCNA1 (T493S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195043	NM_000217.3(KCNA1):c.*9G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Myokymia +3 more	GBenign
Select item 309152	NM_000217.3(KCNA1):c.*228A>C	KCNA1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 309154	NM_000217.3(KCNA1):c.*406C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Myokymia +2 more	GBenign
Select item 309172	NM_000217.3(KCNA1):c.*1522C>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +2 more	GBenign/Likely benign
Select item 309173	NM_000217.3(KCNA1):c.*1524A>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Myokymia +2 more	GBenign
Select item 309175	NM_000217.3(KCNA1):c.*1681T>C	KCNA1	Single nucleotide variant (3 prime UTR variant)	Myokymia +2 more	GBenign
Select item 309179	NM_000217.3(KCNA1):c.*2005G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +2 more	GBenign/Likely benign
Select item 309181	NM_000217.3(KCNA1):c.*2123A>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +2 more	GBenign/Likely benign
Select item 309182	NM_000217.3(KCNA1):c.*2174C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +2 more	GBenign/Likely benign
Select item 309187	NM_000217.3(KCNA1):c.*2308C>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +2 more	GBenign/Likely benign
Select item 309189	NM_000217.3(KCNA1):c.*2333G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 309196	NM_000217.3(KCNA1):c.*3062T>C	KCNA1	Single nucleotide variant (3 prime UTR variant)	Myokymia +2 more	GBenign
Select item 309205	NM_000217.3(KCNA1):c.*3724C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 309223	NM_000217.3(KCNA1):c.*5141G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +2 more	GBenign
Select item 309224	NM_000217.3(KCNA1):c.*5145T>C	KCNA1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 253862	GRCh37/hg19 12p13.32(chr12:4872405-5347944)x3	GALNT8, KCNA6 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 3359894	NM_000217.3(KCNA1):c.83C>G (p.Ala28Gly)	KCNA1 (A28G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 65