ClinVar for MedGen (Select 318554) - ClinVar - NCBI

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	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 2996278	NM_000217.3(KCNA1):c.1182C>T (p.Ile394=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2993915	NM_000217.3(KCNA1):c.1411G>T (p.Val471Phe)	KCNA1 (V471F)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2986058	NM_000217.3(KCNA1):c.1141G>A (p.Val381Met)	KCNA1 (V381M)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2985139	NM_000217.3(KCNA1):c.504C>T (p.Val168=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2982893	NM_000217.3(KCNA1):c.58C>A (p.Gln20Lys)	KCNA1 (Q20K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2975147	NM_000217.3(KCNA1):c.436G>C (p.Glu146Gln)	KCNA1 (E146Q)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2966424	NM_000217.3(KCNA1):c.427C>T (p.Pro143Ser)	KCNA1 (P143S)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2965591	NM_000217.3(KCNA1):c.220G>T (p.Asp74Tyr)	KCNA1 (D74Y)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2955769	NM_000217.3(KCNA1):c.174C>T (p.Phe58=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2919952	NM_000217.3(KCNA1):c.84C>G (p.Ala28=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2919784	NM_000217.3(KCNA1):c.924C>T (p.His308=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2910304	NM_000217.3(KCNA1):c.1207C>T (p.Pro403Ser)	KCNA1 (P403S)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GPathogenic
Select item 2907625	NM_000217.3(KCNA1):c.1383G>A (p.Met461Ile)	KCNA1 (M461I)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2903132	NM_000217.3(KCNA1):c.353A>G (p.Lys118Arg)	KCNA1 (K118R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2900044	NM_000217.3(KCNA1):c.911A>G (p.Lys304Arg)	KCNA1 (K304R)	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 2890449	NM_000217.3(KCNA1):c.690C>A (p.Ile230=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2884512	NM_000217.3(KCNA1):c.268G>A (p.Asp90Asn)	KCNA1 (D90N)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2880414	NM_000217.3(KCNA1):c.1023T>C (p.Ser341=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2877218	NM_000217.3(KCNA1):c.409A>G (p.Ile137Val)	KCNA1 (I137V)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2875848	NM_000217.3(KCNA1):c.1107C>T (p.Ser369=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2874349	NM_000217.3(KCNA1):c.1275T>C (p.Ala425=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2872314	NM_000217.3(KCNA1):c.354G>A (p.Lys118=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2864740	NM_000217.3(KCNA1):c.767T>G (p.Phe256Cys)	KCNA1 (F256C)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2862941	NM_000217.3(KCNA1):c.360C>T (p.Tyr120=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2855340	NM_000217.3(KCNA1):c.1287C>T (p.His429=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
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 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 2834197	NM_000217.3(KCNA1):c.609C>T (p.His203=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2823380	NM_000217.3(KCNA1):c.1132A>G (p.Met378Val)	KCNA1 (M378V)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2822085	NM_000217.3(KCNA1):c.615C>T (p.Ile205=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2819684	NM_000217.3(KCNA1):c.471_472insTCC (p.Phe157_Glu158insSer)	KCNA1	Insertion (inframe_insertion)	Episodic ataxia type 1	GUncertain significance
Select item 2818260	NM_000217.3(KCNA1):c.1008G>A (p.Gly336=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2812215	NM_000217.3(KCNA1):c.740C>T (p.Thr247Met)	KCNA1 (T247M)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2803085	NM_000217.3(KCNA1):c.430C>T (p.Leu144=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2797155	NM_000217.3(KCNA1):c.383A>G (p.Glu128Gly)	KCNA1 (E128G)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2795621	NM_000217.3(KCNA1):c.378C>T (p.Ala126=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2783890	NM_000217.3(KCNA1):c.666C>T (p.Phe222=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
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 2781252	NM_000217.3(KCNA1):c.1288G>A (p.Val430Ile)	KCNA1 (V430I)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2773264	NM_000217.3(KCNA1):c.1206G>C (p.Leu402=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2769272	NM_000217.3(KCNA1):c.61G>T (p.Asp21Tyr)	KCNA1 (D21Y)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2759454	NM_000217.3(KCNA1):c.974A>G (p.Glu325Gly)	KCNA1 (E325G)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2756641	NM_000217.3(KCNA1):c.263G>A (p.Ser88Asn)	KCNA1 (S88N)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2756445	NM_000217.3(KCNA1):c.103T>C (p.Cys35Arg)	KCNA1 (C35R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2755451	NM_000217.3(KCNA1):c.458T>C (p.Val153Ala)	KCNA1 (V153A)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2752953	NM_000217.3(KCNA1):c.140G>C (p.Arg47Pro)	KCNA1 (R47P)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2749673	NM_000217.3(KCNA1):c.973G>A (p.Glu325Lys)	KCNA1 (E325K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2748606	NM_000217.3(KCNA1):c.881_882delinsAT (p.Ile294Asn)	KCNA1 (I294N)	Indel (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2746308	NM_000217.3(KCNA1):c.598G>C (p.Gly200Arg)	KCNA1 (G200R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2743275	NM_000217.3(KCNA1):c.559G>C (p.Glu187Gln)	KCNA1 (E187Q)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2741871	NM_000217.3(KCNA1):c.1288G>T (p.Val430Phe)	KCNA1 (V430F)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 2738700	NM_000217.3(KCNA1):c.657C>A (p.Asp219Glu)	KCNA1 (D219E)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2733302	NM_000217.3(KCNA1):c.1166G>A (p.Gly389Asp)	KCNA1 (G389D)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2730545	NM_000217.3(KCNA1):c.669C>T (p.Ile223=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2728947	NM_000217.3(KCNA1):c.1005C>T (p.Ile335=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2728371	NM_000217.3(KCNA1):c.352A>G (p.Lys118Glu)	KCNA1 (K118E)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2728232	NM_000217.3(KCNA1):c.861C>T (p.Ser287=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2727744	NM_000217.3(KCNA1):c.1438A>G (p.Thr480Ala)	KCNA1 (T480A)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2727696	NM_000217.3(KCNA1):c.793T>C (p.Tyr265His)	KCNA1 (Y265H)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2725488	NM_000217.3(KCNA1):c.87C>T (p.Asp29=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2721927	NM_000217.3(KCNA1):c.1287C>A (p.His429Gln)	KCNA1 (H429Q)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2721007	NM_000217.3(KCNA1):c.807G>A (p.Leu269=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2716422	NM_000217.3(KCNA1):c.256C>A (p.Arg86=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2716267	NM_000217.3(KCNA1):c.813C>T (p.Thr271=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2715287	NM_000217.3(KCNA1):c.295G>A (p.Gly99Ser)	KCNA1 (G99S)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2713358	NM_000217.3(KCNA1):c.152A>T (p.Gln51Leu)	KCNA1 (Q51L)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2711368	NM_000217.3(KCNA1):c.762dup (p.Asn255fs)	KCNA1 (N255fs)	Duplication (frameshift variant)	Episodic ataxia type 1	GUncertain significance
Select item 2711151	NM_000217.3(KCNA1):c.481G>A (p.Glu161Lys)	KCNA1 (E161K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2708671	NM_000217.3(KCNA1):c.447C>A (p.Tyr149Ter)	KCNA1 (Y149*)	Single nucleotide variant (nonsense)	Episodic ataxia type 1	GUncertain significance
Select item 2701985	NM_000217.3(KCNA1):c.948C>T (p.Gly316=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2700132	NM_000217.3(KCNA1):c.745T>C (p.Phe249Leu)	KCNA1 (F249L)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2698675	NM_000217.3(KCNA1):c.1248C>T (p.His416=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2698259	NM_000217.3(KCNA1):c.917C>T (p.Ser306Phe)	KCNA1 (S306F)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2694946	NM_000217.3(KCNA1):c.463C>T (p.Leu155=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2694845	NM_000217.3(KCNA1):c.99C>T (p.His33=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2693949	NM_000217.3(KCNA1):c.799A>G (p.Ile267Val)	KCNA1 (I267V)	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 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 2577881	NM_000217.3(KCNA1):c.966T>A (p.Ser322Arg)	KCNA1 (S322R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GLikely pathogenic
Select item 2577242	NM_000217.3(KCNA1):c.607C>T (p.His203Tyr)	KCNA1 (H203Y)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 2576584	NM_000217.3(KCNA1):c.863T>A (p.Leu288Gln)	KCNA1 (L288Q)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GLikely pathogenic
Select item 2500186	NM_000217.3(KCNA1):c.1102G>C (p.Val368Leu)	KCNA1 (V368L)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GPathogenic
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 2422593	NC_000012.11:g.(?_4368352)_(5155155_?)dup	AKAP3, C12orf4 +11 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 2422592	NC_000012.11:g.(?_5020545)_(5155155_?)del	KCNA1, KCNA5	Deletion	Episodic ataxia type 1	GUncertain significance
Select item 2413514	NM_000217.3(KCNA1):c.162C>T (p.Thr54=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2197825	NM_000217.3(KCNA1):c.255C>T (p.Asn85=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2196713	NM_000217.3(KCNA1):c.594C>T (p.Phe198=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2196568	NM_000217.3(KCNA1):c.297C>G (p.Gly99=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2195872	NM_000217.3(KCNA1):c.1149T>C (p.Ile383=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2193797	NM_000217.3(KCNA1):c.756C>T (p.Asn252=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2193014	NM_000217.3(KCNA1):c.1005C>A (p.Ile335=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2191691	NM_000217.3(KCNA1):c.984G>T (p.Leu328=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2189212	NM_000217.3(KCNA1):c.1455C>T (p.Cys485=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2178351	NM_000217.3(KCNA1):c.438G>A (p.Glu146=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2172979	NM_000217.3(KCNA1):c.1381A>G (p.Met461Val)	KCNA1 (M461V)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2171522	NM_000217.3(KCNA1):c.74C>T (p.Pro25Leu)	KCNA1 (P25L)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance

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