ClinVar for Gene (Select 477) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1308

<< First< Prev

Page of 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068693	NM_000702.4(ATP1A2):c.495+1G>A	ATP1A2	Single nucleotide variant (splice donor variant)	Familial hemiplegic migraine	GUncertain significance
Select item 3068468	NM_000702.4(ATP1A2):c.1021T>C (p.Cys341Arg)	ATP1A2 (C341R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 98	GLikely pathogenic
Select item 3065454	NM_000702.4(ATP1A2):c.2135C>T (p.Thr712Met)	ATP1A2 (T712M)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GLikely pathogenic
Select item 3065346	NM_000702.4(ATP1A2):c.1465T>C (p.Ser489Pro)	ATP1A2 (S489P)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 3064837	NM_000702.4(ATP1A2):c.12+2T>A	ATP1A2	Single nucleotide variant (splice donor variant)	Migraine, familial hemiplegic, 2	GLikely pathogenic
Select item 3063682	NM_000702.4(ATP1A2):c.1118C>G (p.Ser373Trp)	ATP1A2 (S373W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060496	NM_000702.4(ATP1A2):c.2787T>C (p.Ala929=)	ATP1A2	Single nucleotide variant (synonymous variant)	ATP1A2-related condition	GLikely benign
Select item 3033419	NM_000702.4(ATP1A2):c.2285-1G>A	ATP1A2	Single nucleotide variant (splice acceptor variant)	ATP1A2-related condition	GLikely pathogenic
Select item 3031373	NM_000702.4(ATP1A2):c.2496G>A (p.Gln832=)	ATP1A2	Single nucleotide variant (synonymous variant)	ATP1A2-related condition	GLikely benign
Select item 3029764	NM_000702.4(ATP1A2):c.456C>T (p.Ser152=)	ATP1A2	Single nucleotide variant (synonymous variant)	ATP1A2-related condition	GLikely benign
Select item 3019307	NM_000702.4(ATP1A2):c.2074C>A (p.Pro692Thr)	ATP1A2 (P692T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 3017813	NM_000702.4(ATP1A2):c.178-14C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 3017770	NM_000702.4(ATP1A2):c.495+10dup	ATP1A2	Duplication (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 3016365	NM_000702.4(ATP1A2):c.2656G>T (p.Asp886Tyr)	ATP1A2 (D886Y)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 3012944	NM_000702.4(ATP1A2):c.544G>A (p.Glu182Lys)	ATP1A2, LOC126805890 (E182K)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 3011162	NM_000702.4(ATP1A2):c.1327-14G>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 3008090	NM_000702.4(ATP1A2):c.2169G>A (p.Lys723=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 3008017	NM_000702.4(ATP1A2):c.2116-14C>G	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 3007327	NM_000702.4(ATP1A2):c.1061G>A (p.Cys354Tyr)	ATP1A2 (C354Y)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 3001264	NM_000702.4(ATP1A2):c.382-12del	ATP1A2	Deletion (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 3000457	NM_000702.4(ATP1A2):c.784C>T (p.Arg262Trp)	ATP1A2 (R262W)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2999733	NM_000702.4(ATP1A2):c.12+10C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2998236	NM_000702.4(ATP1A2):c.13-5C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2997519	NM_000702.4(ATP1A2):c.1562A>G (p.Gln521Arg)	ATP1A2 (Q521R)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2996088	NM_000702.4(ATP1A2):c.748+3G>T	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2996042	NM_000702.4(ATP1A2):c.1965-2A>G	ATP1A2	Single nucleotide variant (splice acceptor variant)	Familial hemiplegic migraine	GLikely pathogenic
Select item 2994821	NM_000702.4(ATP1A2):c.1461+18_1461+19delinsTA	ATP1A2	Indel (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2989010	NM_000702.4(ATP1A2):c.1634T>C (p.Leu545Pro)	ATP1A2 (L545P)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2987762	NM_000702.4(ATP1A2):c.1461+19G>A	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2982179	NM_000702.4(ATP1A2):c.2714A>G (p.Tyr905Cys)	ATP1A2 (Y905C)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2978088	NM_000702.4(ATP1A2):c.2378C>T (p.Ala793Val)	ATP1A2 (A793V)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2977312	NM_000702.4(ATP1A2):c.1652-6C>A	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2971413	NM_000702.4(ATP1A2):c.2335A>C (p.Ser779Arg)	ATP1A2 (S779R)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2968395	NM_000702.4(ATP1A2):c.2449A>G (p.Ile817Val)	ATP1A2 (I817V)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2967153	NM_000702.4(ATP1A2):c.2116-4C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2956280	NM_000702.4(ATP1A2):c.179G>A (p.Gly60Asp)	ATP1A2 (G60D)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2955567	NM_000702.4(ATP1A2):c.118-19C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2920077	NM_000702.4(ATP1A2):c.1297G>A (p.Ala433Thr)	ATP1A2 (A433T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2919883	NM_000702.4(ATP1A2):c.1217-18C>A	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2919767	NM_000702.4(ATP1A2):c.2025C>G (p.Leu675=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2919185	NM_000702.4(ATP1A2):c.582A>T (p.Gly194=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2918528	NM_000702.4(ATP1A2):c.2546T>C (p.Met849Thr)	ATP1A2 (M849T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2918107	NM_000702.4(ATP1A2):c.2439+14G>A	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2918052	NM_000702.4(ATP1A2):c.2439+6C>A	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2917966	NM_000702.4(ATP1A2):c.2284+15T>C	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2916391	NM_000702.4(ATP1A2):c.1752G>T (p.Gly584=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2915099	NM_000702.4(ATP1A2):c.2940C>T (p.Leu980=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2913166	NM_000702.4(ATP1A2):c.2277G>A (p.Val759=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2911592	NM_000702.4(ATP1A2):c.2898T>C (p.Ser966=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2906344	NM_000702.4(ATP1A2):c.2116-18T>C	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2903113	NM_000702.4(ATP1A2):c.194G>A (p.Arg65Gln)	ATP1A2 (R65Q)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2901820	NM_000702.4(ATP1A2):c.642A>T (p.Ser214=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2901267	NM_000702.4(ATP1A2):c.2116-19G>A	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2900546	NM_000702.4(ATP1A2):c.1159G>A (p.Ala387Thr)	ATP1A2 (A387T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2896455	NM_000702.4(ATP1A2):c.91G>A (p.Asp31Asn)	ATP1A2 (D31N)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2895290	NM_000702.4(ATP1A2):c.2116-12T>C	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2889492	NM_000702.4(ATP1A2):c.13-19C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GBenign
Select item 2889067	NM_000702.4(ATP1A2):c.2316C>T (p.Ser772=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2879420	NM_000702.4(ATP1A2):c.1257G>A (p.Leu419=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2877243	NM_000702.4(ATP1A2):c.1462-3C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2874412	NM_000702.4(ATP1A2):c.13-8T>A	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2874387	NM_000702.4(ATP1A2):c.381+5G>A	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2870349	NM_000702.4(ATP1A2):c.749-16C>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2869560	NM_000702.4(ATP1A2):c.1483G>A (p.Asp495Asn)	ATP1A2 (D495N)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2868040	NM_000702.4(ATP1A2):c.2942+16G>C	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2867034	NM_000702.4(ATP1A2):c.2644G>A (p.Gly882Arg)	ATP1A2 (G882R)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2866132	NM_000702.4(ATP1A2):c.2970C>T (p.Pro990=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2862560	NM_000702.4(ATP1A2):c.1549A>G (p.Thr517Ala)	ATP1A2 (T517A)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2859530	NM_000702.4(ATP1A2):c.2983dup (p.Ile995fs)	ATP1A2 (I995fs)	Duplication (frameshift variant)	Familial hemiplegic migraine	GPathogenic
Select item 2858853	NM_000702.4(ATP1A2):c.381+19C>G	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2855665	NM_000702.4(ATP1A2):c.881C>T (p.Thr294Ile)	ATP1A2 (T294I)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2855416	NM_000702.4(ATP1A2):c.1326+8G>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2855389	NM_000702.4(ATP1A2):c.2942+15C>G	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2854751	NM_000702.4(ATP1A2):c.382-20A>G	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2854274	NM_000702.4(ATP1A2):c.2867T>C (p.Leu956Pro)	ATP1A2 (L956P)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2851510	NM_000702.4(ATP1A2):c.972C>T (p.Gly324=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2849096	NM_000702.4(ATP1A2):c.2115+6C>G	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2847769	NM_000702.4(ATP1A2):c.1149C>T (p.Arg383=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2847226	NM_000702.4(ATP1A2):c.1769A>G (p.Asp590Gly)	ATP1A2 (D590G)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2847127	NM_000702.4(ATP1A2):c.2876C>G (p.Thr959Arg)	ATP1A2 (T959R)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2846713	NM_000702.4(ATP1A2):c.1326G>A (p.Lys442=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2846710	NM_000702.4(ATP1A2):c.2069C>G (p.Thr690Arg)	ATP1A2 (T690R)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2845118	NM_000702.4(ATP1A2):c.3034+23dup	ATP1A2	Duplication (intron variant)	Familial hemiplegic migraine	GBenign
Select item 2844493	NM_000702.4(ATP1A2):c.2203G>A (p.Gly735Ser)	ATP1A2 (G735S)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2841304	NM_000702.4(ATP1A2):c.2286C>A (p.Gly762=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2841042	NM_000702.4(ATP1A2):c.554T>C (p.Val185Ala)	ATP1A2, LOC126805890 (V185A)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2838765	NM_000702.4(ATP1A2):c.1388G>T (p.Gly463Val)	ATP1A2 (G463V)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2838044	NM_000702.4(ATP1A2):c.1053G>T (p.Arg351=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2836577	NM_000702.4(ATP1A2):c.1908G>A (p.Glu636=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2835599	NM_000702.4(ATP1A2):c.2863C>G (p.Leu955Val)	ATP1A2 (L955V)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2835538	NM_000702.4(ATP1A2):c.412G>T (p.Val138Phe)	ATP1A2 (V138F)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2834951	NM_000702.4(ATP1A2):c.1808G>A (p.Cys603Tyr)	ATP1A2 (C603Y)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2834389	NM_000702.4(ATP1A2):c.2440-7C>G	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2829205	NM_000702.4(ATP1A2):c.495+17_495+28dup	ATP1A2	Duplication (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2828174	NM_000702.4(ATP1A2):c.2833G>A (p.Gly945Ser)	ATP1A2 (G945S)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2827799	NM_000702.4(ATP1A2):c.2284+17G>C	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2827649	NM_000702.4(ATP1A2):c.1002T>C (p.Leu334=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2826958	NM_000702.4(ATP1A2):c.1098C>T (p.Gly366=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2824274	NM_000702.4(ATP1A2):c.2942+5G>T	ATP1A2	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2822257	NM_000702.4(ATP1A2):c.1485C>T (p.Asp495=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign

<< First< Prev

Page of 14