ClinVar for Gene (Select 781) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 904

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3232276	NM_000722.4(CACNA2D1):c.938G>T (p.Arg313Ile)	CACNA2D1 (R313I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232275	NM_000722.4(CACNA2D1):c.90C>A (p.Ala30=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232274	NM_000722.4(CACNA2D1):c.795T>C (p.Ser265=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232273	NM_000722.4(CACNA2D1):c.-5C>T	CACNA2D1	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232272	NM_000722.4(CACNA2D1):c.456T>A (p.Asp152Glu)	CACNA2D1 (D152E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232271	NM_000722.4(CACNA2D1):c.455A>G (p.Asp152Gly)	CACNA2D1 (D152G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232270	NM_000722.4(CACNA2D1):c.352G>C (p.Ala118Pro)	CACNA2D1 (A118P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232269	NM_000722.4(CACNA2D1):c.3065C>A (p.Ala1022Glu)	CACNA2D1 (A1022E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232268	NM_000722.4(CACNA2D1):c.3063A>G (p.Gln1021=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232267	NM_000722.4(CACNA2D1):c.3024C>T (p.Ser1008=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232266	NM_000722.4(CACNA2D1):c.3000C>T (p.Asn1000=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232265	NM_000722.4(CACNA2D1):c.2913C>T (p.Phe971=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232264	NM_000722.4(CACNA2D1):c.2561A>T (p.Asp854Val)	CACNA2D1 (D854V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232263	NM_000722.4(CACNA2D1):c.2450C>T (p.Ser817Leu)	CACNA2D1 (S817L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232262	NM_000722.4(CACNA2D1):c.2418A>G (p.Val806=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232261	NM_000722.4(CACNA2D1):c.2327A>G (p.Tyr776Cys)	CACNA2D1 (Y776C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232260	NM_000722.4(CACNA2D1):c.227G>A (p.Arg76His)	CACNA2D1 (R76H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3232259	NM_000722.4(CACNA2D1):c.218A>C (p.Asn73Thr)	CACNA2D1 (N73T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232258	NM_000722.4(CACNA2D1):c.214C>T (p.Pro72Ser)	CACNA2D1 (P72S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232257	NM_000722.4(CACNA2D1):c.2102A>G (p.Asn701Ser)	CACNA2D1 (N701S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232256	NM_000722.4(CACNA2D1):c.2090C>T (p.Ala697Val)	CACNA2D1 (A697V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232255	NM_000722.4(CACNA2D1):c.1982C>T (p.Ser661Leu)	CACNA2D1 (S661L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232254	NM_000722.4(CACNA2D1):c.1934G>A (p.Gly645Asp)	CACNA2D1 (G645D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232253	NM_000722.4(CACNA2D1):c.188A>C (p.Lys63Thr)	CACNA2D1 (K63T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232252	NM_000722.4(CACNA2D1):c.1801G>A (p.Ala601Thr)	CACNA2D1 (A601T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232251	NM_000722.4(CACNA2D1):c.1730A>T (p.Asp577Val)	CACNA2D1 (D577V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232250	NM_000722.4(CACNA2D1):c.1618T>C (p.Leu540=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232249	NM_000722.4(CACNA2D1):c.1498C>T (p.Leu500=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232248	NM_000722.4(CACNA2D1):c.1433A>C (p.Asn478Thr)	CACNA2D1 (N478T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232247	NM_000722.4(CACNA2D1):c.1046T>C (p.Val349Ala)	CACNA2D1 (V349A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3136454	NM_000722.4(CACNA2D1):c.2222A>G (p.Gln741Arg)	CACNA2D1 (Q741R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3064709	NM_000722.4(CACNA2D1):c.3152A>G (p.Asn1051Ser)	CACNA2D1 (N1051S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 110	GUncertain significance
Select item 3049969	NM_000722.4(CACNA2D1):c.1956-3C>T	CACNA2D1	Single nucleotide variant (intron variant)	CACNA2D1-related disorder	GLikely benign
Select item 3049968	NM_000722.4(CACNA2D1):c.879+9814T>C	CACNA2D1	Single nucleotide variant (synonymous variant +1 more)	CACNA2D1-related disorder	GLikely benign
Select item 3045039	NM_000722.4(CACNA2D1):c.666A>G (p.Pro222=)	CACNA2D1	Single nucleotide variant (synonymous variant)	CACNA2D1-related disorder	GLikely benign
Select item 3041879	NM_000722.4(CACNA2D1):c.921T>A (p.Leu307=)	CACNA2D1	Single nucleotide variant (synonymous variant)	CACNA2D1-related disorder	GLikely benign
Select item 3016907	NM_000722.4(CACNA2D1):c.1009T>A (p.Phe337Ile)	CACNA2D1 (F337I)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 3016284	NM_000722.4(CACNA2D1):c.2574+17A>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 3012968	NM_000722.4(CACNA2D1):c.659-19_659-17del	CACNA2D1	Deletion (intron variant)	Brugada syndrome	GLikely benign
Select item 3009775	NM_000722.4(CACNA2D1):c.2727+17G>C	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 3008365	NM_000722.4(CACNA2D1):c.836T>C (p.Met279Thr)	CACNA2D1 (M279T)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 3007734	NM_000722.4(CACNA2D1):c.1362+2_1362+5dup	CACNA2D1, CACNA2D1-AS1	Duplication (splice donor variant)	Brugada syndrome	GUncertain significance
Select item 3006109	NM_000722.4(CACNA2D1):c.858T>C (p.Asp286=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2992460	NM_000722.4(CACNA2D1):c.3167A>T (p.Tyr1056Phe)	CACNA2D1 (Y1056F +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2986201	NM_000722.4(CACNA2D1):c.660T>C (p.Ala220=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 2982089	NM_000722.4(CACNA2D1):c.1774C>T (p.Pro592Ser)	CACNA2D1 (P592S +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2976925	NM_000722.4(CACNA2D1):c.168G>A (p.Gln56=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2968664	NM_000722.4(CACNA2D1):c.1642G>C (p.Glu548Gln)	CACNA2D1 (E567Q +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2958145	NM_000722.4(CACNA2D1):c.729-16A>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2955580	NM_000722.4(CACNA2D1):c.178-12T>C	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2955560	NM_000722.4(CACNA2D1):c.865G>A (p.Val289Met)	CACNA2D1 (V289M)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2920026	NM_000722.4(CACNA2D1):c.2968A>G (p.Ile990Val)	CACNA2D1 (I1002V +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 2919636	NM_000722.4(CACNA2D1):c.1797-14T>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GUncertain significance
Select item 2918930	NM_000722.4(CACNA2D1):c.3130C>T (p.Pro1044Ser)	CACNA2D1 (P1044S +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2915273	NM_000722.4(CACNA2D1):c.1122C>G (p.Asn374Lys)	CACNA2D1 (N374K)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2911378	NM_000722.4(CACNA2D1):c.873A>C (p.Val291=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2911330	NM_000722.4(CACNA2D1):c.178-19T>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2906288	NM_000722.4(CACNA2D1):c.1164A>T (p.Ser388=)	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2904255	NM_000722.4(CACNA2D1):c.3242G>T (p.Trp1081Leu)	CACNA2D1 (W1081L +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2899611	NM_000722.4(CACNA2D1):c.2503-7T>C	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2889080	NM_000722.4(CACNA2D1):c.2727+16G>A	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2883642	NM_000722.4(CACNA2D1):c.47C>T (p.Ser16Phe)	CACNA2D1 (S16F)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2883637	NM_000722.4(CACNA2D1):c.702C>A (p.Asp234Glu)	CACNA2D1 (D234E)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2881261	NM_000722.4(CACNA2D1):c.2142-3C>T	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GUncertain significance
Select item 2867520	NM_000722.4(CACNA2D1):c.3077-37_3077-12dup	CACNA2D1	Duplication (intron variant)	Brugada syndrome	GUncertain significance
Select item 2864176	NM_000722.4(CACNA2D1):c.2189G>A (p.Arg730Lys)	CACNA2D1 (R730K +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2857850	NM_000722.4(CACNA2D1):c.2780+11A>T	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2856753	NM_000722.4(CACNA2D1):c.178-13_178-12dup	CACNA2D1	Duplication (intron variant)	Brugada syndrome	GBenign
Select item 2855324	NM_000722.4(CACNA2D1):c.2054-12T>C	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2853211	NM_000722.4(CACNA2D1):c.1593C>T (p.Asn531=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2853210	NM_000722.4(CACNA2D1):c.2309-3T>A	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GUncertain significance
Select item 2853166	NM_000722.4(CACNA2D1):c.2336G>A (p.Gly779Asp)	CACNA2D1 (G791D +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2848988	NM_000722.4(CACNA2D1):c.2141+7A>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2847235	NM_000722.4(CACNA2D1):c.1440+17T>C	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2843443	NM_000722.4(CACNA2D1):c.717C>G (p.Arg239=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2838677	NM_000722.4(CACNA2D1):c.2914G>T (p.Asp972Tyr)	CACNA2D1 (D972Y +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2838459	NM_000722.4(CACNA2D1):c.2463+9T>C	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2837337	NM_000722.4(CACNA2D1):c.2939G>C (p.Gly980Ala)	CACNA2D1 (G980A +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2834569	NM_000722.4(CACNA2D1):c.2464-20A>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2832736	NM_000722.4(CACNA2D1):c.1951C>G (p.Pro651Ala)	CACNA2D1 (P663A +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2827809	NM_000722.4(CACNA2D1):c.69G>C (p.Ser23=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2826484	NM_000722.4(CACNA2D1):c.460A>G (p.Asn154Asp)	CACNA2D1 (N154D)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2821439	NM_000722.4(CACNA2D1):c.845C>A (p.Thr282Asn)	CACNA2D1 (T282N)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2820240	NM_000722.4(CACNA2D1):c.396+8T>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2815700	NM_000722.4(CACNA2D1):c.378T>C (p.Asn126=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2808997	NM_000722.4(CACNA2D1):c.2733A>C (p.Ser911=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2805898	NM_000722.4(CACNA2D1):c.2486G>A (p.Cys829Tyr)	CACNA2D1 (C829Y +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2805299	NM_000722.4(CACNA2D1):c.1273-13_1273-12dup	CACNA2D1, CACNA2D1-AS1	Duplication (intron variant)	Brugada syndrome	GBenign
Select item 2796653	NM_000722.4(CACNA2D1):c.2575-16T>C	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2794097	NM_000722.4(CACNA2D1):c.1222+6A>C	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	Brugada syndrome	GUncertain significance
Select item 2791109	NM_000722.4(CACNA2D1):c.933T>C (p.Asn311=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2786685	NM_000722.4(CACNA2D1):c.529A>C (p.Thr177Pro)	CACNA2D1 (T177P)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2786342	NM_000722.4(CACNA2D1):c.3173_3176dup (p.Cys1059Ter)	CACNA2D1 (C1059* +1 more)	Microsatellite (nonsense)	Brugada syndrome	GUncertain significance
Select item 2784280	NM_000722.4(CACNA2D1):c.659-23CT[4]	CACNA2D1	Microsatellite (intron variant)	Brugada syndrome	GLikely benign
Select item 2771153	NM_000722.4(CACNA2D1):c.95+5G>A	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GUncertain significance
Select item 2770413	NM_000722.4(CACNA2D1):c.1895A>G (p.Asp632Gly)	CACNA2D1 (D632G +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2763167	NM_000722.4(CACNA2D1):c.2837-10_2837-4del	CACNA2D1	Deletion (intron variant)	Brugada syndrome	GLikely benign
Select item 2761945	NM_000722.4(CACNA2D1):c.729-10T>C	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GUncertain significance
Select item 2761469	NM_000722.4(CACNA2D1):c.1294A>C (p.Arg432=)	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2757555	NM_000722.4(CACNA2D1):c.2463+20T>A	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign

<< First< Prev

Page of 10