Related gene-specific medical variations for Gene (Select 773) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 398

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064486	NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly)	CACNA1A (E1755G +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6	GLikely pathogenic
Select item 3062038	NM_001127222.2(CACNA1A):c.4115C>T (p.Ser1372Leu)	CACNA1A, LOC126862864 (S1372L +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 3061076	NM_001127222.2(CACNA1A):c.6962A>G (p.Gln2321Arg)	CACNA1A, LOC108663985 (Q2321R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GUncertain significance
Select item 3027248	NM_001127222.2(CACNA1A):c.6778C>T (p.Gln2260Ter)	CACNA1A, LOC130063717 (Q2260* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3026943	NM_001127222.2(CACNA1A):c.4247G>T (p.Cys1416Phe)	CACNA1A, LOC126862864 (C1416F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2952585	NM_001127222.2(CACNA1A):c.6755G>C (p.Gly2252Ala)	CACNA1A, LOC130063717 (G2252A +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2951541	NM_001127222.2(CACNA1A):c.4172C>T (p.Ala1391Val)	CACNA1A, LOC126862864 (A1391V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2948701	NM_001127222.2(CACNA1A):c.4095_4096del (p.Val1365_Phe1366insTer)	CACNA1A, LOC126862864	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2948619	NM_001127222.2(CACNA1A):c.3940A>G (p.Ile1314Val)	CACNA1A, LOC126862865 (I1315V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2945616	NM_001127222.2(CACNA1A):c.1054C>T (p.Leu352=)	CACNA1A, LOC126862866	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2945581	NM_001127222.2(CACNA1A):c.1044C>T (p.Ser348=)	CACNA1A, LOC126862866	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2945186	NM_001127222.2(CACNA1A):c.6701_6711dup (p.Ala2238fs)	CACNA1A, LOC130063717 (A2238fs +3 more)	Duplication (frameshift variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2945104	NM_001127222.2(CACNA1A):c.4179G>A (p.Val1393=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2943243	NM_001127222.2(CACNA1A):c.4250+13T>C	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2941913	NM_001127222.2(CACNA1A):c.3964G>A (p.Gly1322Arg)	CACNA1A, LOC126862865 (G1323R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2940622	NM_001127222.2(CACNA1A):c.4154T>C (p.Leu1385Pro)	CACNA1A, LOC126862864 (L1386P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2940028	NM_001127222.2(CACNA1A):c.1082+20C>T	CACNA1A, LOC126862866	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2939177	NM_001127222.2(CACNA1A):c.6757C>G (p.Arg2253Gly)	CACNA1A, LOC130063717 (R2259G +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2935823	NM_001127222.2(CACNA1A):c.3883-14C>T	CACNA1A, LOC126862865	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2935614	NM_001127222.2(CACNA1A):c.4090-3C>T	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2935335	NM_001127222.2(CACNA1A):c.1082+19C>A	CACNA1A, LOC126862866	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2934393	NM_001127222.2(CACNA1A):c.4250+19G>A	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2932150	NM_001127222.2(CACNA1A):c.6732C>G (p.Arg2244=)	CACNA1A, LOC130063717	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2931044	NM_001127222.2(CACNA1A):c.3989+19G>A	CACNA1A, LOC126862865	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2930208	NM_001127222.2(CACNA1A):c.979-13T>C	CACNA1A, LOC126862866	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2926565	NM_001127222.2(CACNA1A):c.4090-24CT[2]	CACNA1A, LOC126862864	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2925139	NM_001127222.2(CACNA1A):c.998A>G (p.Asn333Ser)	CACNA1A, LOC126862866 (N333S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2921617	NM_001127222.2(CACNA1A):c.981C>G (p.Ser327Arg)	CACNA1A, LOC126862866 (S327R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2688701	NM_001127222.2(CACNA1A):c.529G>T (p.Val177Leu)	CACNA1A (V177L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688700	NM_001127222.2(CACNA1A):c.4233G>A (p.Glu1411=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2688699	NM_001127222.2(CACNA1A):c.3112C>T (p.Pro1038Ser)	CACNA1A (P1038S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684119	NM_001127222.2(CACNA1A):c.7433C>T (p.Pro2478Leu)	CACNA1A (P2478L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2684118	NM_001127222.2(CACNA1A):c.5141G>A (p.Gly1714Asp)	CACNA1A (G1717D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684117	NM_000068.4(CACNA1A):c.4970_4987del	CACNA1A	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2684116	NM_001127222.2(CACNA1A):c.4250+4G>C	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2684115	NM_001127222.2(CACNA1A):c.3469G>C (p.Ala1157Pro)	CACNA1A (A1157P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684114	NM_001127222.2(CACNA1A):c.2931G>C (p.Ala977=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684113	NM_001127222.2(CACNA1A):c.2723_2738delinsTG (p.Gly908fs)	CACNA1A (G908fs +2 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2684111	NM_001127222.2(CACNA1A):c.1931G>A (p.Gly644Glu)	CACNA1A (G644E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684110	NM_001127222.2(CACNA1A):c.18C>T (p.Asp6=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2683920	NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)	CACNA1A (A868fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 42	GLikely pathogenic
Select item 2683917	NM_001127222.2(CACNA1A):c.3781G>A (p.Ala1261Thr)	CACNA1A (A1261T +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GUncertain significance
Select item 2672747	NC_000019.10:g.13599907C>T	CACNA1A	Single nucleotide variant	not provided	GLikely benign
Select item 2671943	NM_001127222.2(CACNA1A):c.2180A>G (p.Gln727Arg)	CACNA1A (Q727R +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GUncertain significance
Select item 2664979	NM_001127222.2(CACNA1A):c.4242del (p.Asp1415fs)	CACNA1A, LOC126862864 (D1415fs +2 more)	Deletion (frameshift variant)	Episodic ataxia type 2	GLikely pathogenic
Select item 2662986	NM_001127222.2(CACNA1A):c.984C>G (p.Asn328Lys)	CACNA1A, LOC126862866 (N328K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649397	NC_000019.10:g.13599844G>A	CACNA1A	Single nucleotide variant	not provided	GLikely benign
Select item 2649396	NC_000019.10:g.13599842C>A	CACNA1A	Single nucleotide variant	not provided	GLikely benign
Select item 2649379	NM_001127222.2(CACNA1A):c.6960G>A (p.Gln2320=)	CACNA1A, LOC108663985	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2649373	NC_000019.10:g.13198071A>T	CACNA1A	Single nucleotide variant	not provided	GLikely benign
Select item 2637429	NM_001127222.2(CACNA1A):c.1072G>C (p.Val358Leu)	CACNA1A, LOC126862866 (V358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633414	NM_001127222.2(CACNA1A):c.6958C>T (p.Gln2320Ter)	LOC108663985, CACNA1A (Q2320* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GUncertain significance
Select item 2627845	NM_001127222.2(CACNA1A):c.6780+1G>A	CACNA1A, LOC130063717	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2603838	NM_001127222.2(CACNA1A):c.4250+4G>A	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2584744	NM_001127222.2(CACNA1A):c.91C>T (p.Arg31Ter)	CACNA1A (R31*)	Single nucleotide variant (nonsense)	Episodic ataxia type 2	GPathogenic
Select item 2584733	NM_001127222.2(CACNA1A):c.5216G>C (p.Arg1739Pro)	CACNA1A (R1739P +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GPathogenic
Select item 2584600	NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)	CACNA1A (R1006L +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GUncertain significance
Select item 2582967	NM_001127222.2(CACNA1A):c.4188G>C (p.Gln1396His)	CACNA1A, LOC126862864 (Q1396H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2582593	NM_001127222.2(CACNA1A):c.3407C>T (p.Pro1136Leu)	CACNA1A (P1136L +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GUncertain significance
Select item 2582565	NM_001127222.2(CACNA1A):c.182T>C (p.Leu61Pro)	CACNA1A (L61P)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GUncertain significance
Select item 2582380	NM_001127222.2(CACNA1A):c.203G>T (p.Arg68Leu)	CACNA1A (R68L)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GLikely pathogenic
Select item 2579827	NM_001127222.2(CACNA1A):c.4197G>C (p.Lys1399Asn)	CACNA1A, LOC126862864 (K1399N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578818	NM_001127222.2(CACNA1A):c.6937CAG[10] (p.Gln2323_Gln2325del)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2576856	NM_001127222.2(CACNA1A):c.3914G>T (p.Gly1305Val)	CACNA1A, LOC126862865 (G1305V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575949	NM_001127222.2(CACNA1A):c.784G>A (p.Asp262Asn)	CACNA1A (D262N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572485	NM_001127222.2(CACNA1A):c.4215C>A (p.Cys1405Ter)	CACNA1A, LOC126862864 (C1405* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 42	GLikely pathogenic
Select item 2507278	NM_001127222.2(CACNA1A):c.1025C>T (p.Pro342Leu)	LOC126862866, CACNA1A (P342L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505092	GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1	CACNA1A	Copy number loss	Developmental and epileptic encephalopathy, 42 +3 more	Gnot provided
Select item 2500296	NM_001127222.2(CACNA1A):c.1037_1082+113del	CACNA1A, LOC126862866	Deletion (splice donor variant)	Episodic ataxia type 2	GLikely pathogenic
Select item 2499356	NM_001127222.2(CACNA1A):c.6752A>G (p.Glu2251Gly)	CACNA1A, LOC130063717 (E2251G +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2443646	NM_001127222.2(CACNA1A):c.4152G>C (p.Met1384Ile)	CACNA1A, LOC126862864 (M1384I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441753	NM_001127222.2(CACNA1A):c.4807G>T (p.Val1603Phe)	CACNA1A (V1603F +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GUncertain significance
Select item 2441696	NM_001127222.2(CACNA1A):c.673C>T (p.Pro225Ser)	CACNA1A (P225S)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GUncertain significance
Select item 2439635	NM_001127222.2(CACNA1A):c.6341C>T (p.Thr2114Ile)	CACNA1A (T2114I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439634	NM_001127222.2(CACNA1A):c.2428C>T (p.His810Tyr)	CACNA1A (H810Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439633	NM_001127222.2(CACNA1A):c.4131C>T (p.Phe1377=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2439632	NM_001127222.2(CACNA1A):c.2870G>A (p.Arg957His)	CACNA1A (R957H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439631	NM_001127222.2(CACNA1A):c.1354T>G (p.Phe452Val)	CACNA1A (F452V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439629	NM_001127222.2(CACNA1A):c.3613G>A (p.Glu1205Lys)	CACNA1A (E1205K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439627	NM_001127222.2(CACNA1A):c.1168A>G (p.Asn390Asp)	CACNA1A (N390D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439626	NM_001127222.2(CACNA1A):c.2935C>T (p.His979Tyr)	CACNA1A (H979Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439625	NM_001127222.2(CACNA1A):c.176T>C (p.Met59Thr)	CACNA1A (M59T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439624	NM_001127222.2(CACNA1A):c.6217G>C (p.Asp2073His)	CACNA1A (D2073H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429835	NM_001127222.2(CACNA1A):c.2950C>T (p.Arg984Trp)	CACNA1A (R984W +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2417631	NM_001127222.2(CACNA1A):c.3978C>T (p.Ala1326=)	CACNA1A, LOC126862865	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2317796	NM_001127222.2(CACNA1A):c.6938A>T (p.Gln2313Leu)	CACNA1A, LOC108663985 (Q2313L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2181318	NM_001127222.2(CACNA1A):c.4250+15T>G	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2160825	NM_001127222.2(CACNA1A):c.6712_6735dup (p.Trp2245_Ser2246insAlaArgAlaArgAspGlnArgTrp)	CACNA1A, LOC130063717	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2133201	NM_001127222.2(CACNA1A):c.3883-16C>T	CACNA1A, LOC126862865	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2131235	NM_001127222.2(CACNA1A):c.4250+11A>G	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2125287	NM_001127222.2(CACNA1A):c.6766A>G (p.Met2256Val)	CACNA1A, LOC130063717 (M2257V +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2117083	NM_001127222.2(CACNA1A):c.6780+19G>A	CACNA1A, LOC130063717	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2075486	NM_001127222.2(CACNA1A):c.1014G>A (p.Leu338=)	CACNA1A, LOC126862866	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2066910	NM_001127222.2(CACNA1A):c.3883-12T>C	CACNA1A, LOC126862865	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2056865	NM_001127222.2(CACNA1A):c.979-8C>T	CACNA1A, LOC126862866	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2044882	NM_001127222.2(CACNA1A):c.3970C>T (p.Leu1324=)	CACNA1A, LOC126862865	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2041724	NM_001127222.2(CACNA1A):c.6773A>G (p.His2258Arg)	CACNA1A, LOC130063717 (H2261R +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2034801	NM_001127222.2(CACNA1A):c.4091C>A (p.Ala1364Asp)	CACNA1A, LOC126862864 (A1368D +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2034339	NM_001127222.2(CACNA1A):c.4203del (p.Lys1401fs)	CACNA1A, LOC126862864 (K1401fs +2 more)	Deletion (frameshift variant)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 2032867	NM_001127222.2(CACNA1A):c.4193T>C (p.Phe1398Ser)	CACNA1A, LOC126862864 (F1402S +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance

<< First< Prev

Page of 4