CACNA2D1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1316305	NM_000722.4(CACNA2D1):c.*194G>T	CACNA2D1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1226581	NM_000722.4(CACNA2D1):c.*120T>A	CACNA2D1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2726929	NM_000722.4(CACNA2D1):c.3275G>A (p.Ter1092=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1729659	NM_000722.4(CACNA2D1):c.3274T>C (p.Ter1092Arg)	CACNA2D1	Single nucleotide variant (stop lost)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 518633	NM_000722.4(CACNA2D1):c.3270G>A (p.Leu1090=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1519635	NM_000722.4(CACNA2D1):c.3266G>T (p.Arg1089Leu)	CACNA2D1 (R1089L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1478902	NM_000722.4(CACNA2D1):c.3266G>A (p.Arg1089His)	CACNA2D1 (R1089H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 512901	NM_000722.4(CACNA2D1):c.3265C>T (p.Arg1089Cys)	CACNA2D1 (R1089C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 855878	NM_000722.4(CACNA2D1):c.3260C>T (p.Thr1087Ile)	CACNA2D1 (T1087I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2450731	NM_000722.4(CACNA2D1):c.3254G>A (p.Gly1085Asp)	CACNA2D1 (G1097D +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 2585876	NM_000722.4(CACNA2D1):c.3253G>A (p.Gly1085Ser)	CACNA2D1 (G1085S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1729438	NM_000722.4(CACNA2D1):c.3252T>C (p.Ser1084=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1729365	NM_000722.4(CACNA2D1):c.3249A>G (p.Val1083=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 519339	NM_000722.4(CACNA2D1):c.3235C>G (p.Leu1079Val)	CACNA2D1 (L1079V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 264507	NM_000722.4(CACNA2D1):c.3218T>C (p.Ile1073Thr)	CACNA2D1 (I1073T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1505740	NM_000722.4(CACNA2D1):c.3212A>C (p.Tyr1071Ser)	CACNA2D1 (Y1083S +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1439054	NM_000722.4(CACNA2D1):c.3211T>C (p.Tyr1071His)	CACNA2D1 (Y1083H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1496679	NM_000722.4(CACNA2D1):c.3208T>C (p.Trp1070Arg)	CACNA2D1 (W1070R +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1728828	NM_000722.4(CACNA2D1):c.3201C>G (p.Pro1067=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1143963	NM_000722.4(CACNA2D1):c.3201C>T (p.Pro1067=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 1728585	NM_000722.4(CACNA2D1):c.3185T>G (p.Val1062Gly)	CACNA2D1 (V1074G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1345360	NM_000722.4(CACNA2D1):c.3170C>G (p.Thr1057Ser)	CACNA2D1 (T1057S +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
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 780043	NM_000722.4(CACNA2D1):c.3160-4_3160-2del	CACNA2D1	Microsatellite (splice acceptor variant)	not provided	GLikely benign
Select item 1166600	NM_000722.4(CACNA2D1):c.3160-18_3160-17dup	CACNA2D1	Duplication (intron variant)	Brugada syndrome	GBenign
Select item 215476	NM_000722.4(CACNA2D1):c.3160-18dup	CACNA2D1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1165755	NM_000722.4(CACNA2D1):c.3160-9del	CACNA2D1	Deletion (intron variant)	Brugada syndrome	GBenign
Select item 1039332	NM_000722.4(CACNA2D1):c.3160-9T>A	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2717929	NM_000722.4(CACNA2D1):c.3160-14T>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 506746	NM_000722.4(CACNA2D1):c.3160-19_3160-15del	CACNA2D1	Microsatellite (intron variant)	Brugada syndrome +1 more	GLikely benign
Select item 1590490	NM_000722.4(CACNA2D1):c.3160-19_3160-16del	CACNA2D1	Deletion (intron variant)	Brugada syndrome	GBenign
Select item 1638604	NM_000722.4(CACNA2D1):c.3160-17T>C	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1595044	NM_000722.4(CACNA2D1):c.3160-23_3160-20del	CACNA2D1	Deletion (intron variant)	Brugada syndrome	GLikely benign
Select item 1316191	NM_000722.4(CACNA2D1):c.3160-149A>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271341	NM_000722.4(CACNA2D1):c.3160-323T>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1728084	NM_000722.4(CACNA2D1):c.3140_3157dup (p.Val1052_Leu1053insCysPheAspAsnAsnVal)	CACNA2D1	Duplication (inframe_insertion +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3262824	NM_000722.4(CACNA2D1):c.3154G>A (p.Val1052Ile)	CACNA2D1 (V1052I +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 263797	NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala)	CACNA2D1 (D1045A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 3262814	NM_000722.4(CACNA2D1):c.3133G>A (p.Asp1045Asn)	CACNA2D1 (D1045N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 2657639	NM_000722.4(CACNA2D1):c.3130C>G (p.Pro1044Ala)	CACNA2D1 (P1044A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1727876	NM_000722.4(CACNA2D1):c.3122G>A (p.Arg1041Gln)	CACNA2D1 (R1053Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 256767	NM_000722.4(CACNA2D1):c.3114C>T (p.Pro1038=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 580922	NM_000722.4(CACNA2D1):c.3109C>G (p.Gln1037Glu)	CACNA2D1 (Q1037E +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1146757	NM_000722.4(CACNA2D1):c.3081C>T (p.Asp1027=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 518516	NM_000722.4(CACNA2D1):c.3077-4_3077-3del	CACNA2D1	Deletion (intron variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1475618	NM_000722.4(CACNA2D1):c.3077-9C>T	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2867520	NM_000722.4(CACNA2D1):c.3077-37_3077-12dup	CACNA2D1	Duplication (intron variant)	Brugada syndrome	GUncertain significance
Select item 1316306	NM_000722.4(CACNA2D1):c.3076+61G>A	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2075016	NM_000722.4(CACNA2D1):c.3076+14T>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1054406	NM_000722.4(CACNA2D1):c.3066G>A (p.Ala1022=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	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 1799418	NM_000722.4(CACNA2D1):c.3065C>T (p.Ala1022Val)	CACNA2D1 (A1022V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	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 810110	NM_000722.4(CACNA2D1):c.3060A>G (p.Ile1020Met)	CACNA2D1 (I1020M +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1799329	NM_000722.4(CACNA2D1):c.3059T>C (p.Ile1020Thr)	CACNA2D1 (I1032T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450733	NM_000722.4(CACNA2D1):c.3050G>A (p.Arg1017Gln)	CACNA2D1 (R1029Q +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2293939	NM_000722.4(CACNA2D1):c.3041G>A (p.Cys1014Tyr)	CACNA2D1 (C1014Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1799110	NM_000722.4(CACNA2D1):c.3039A>C (p.Pro1013=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1133518	NM_000722.4(CACNA2D1):c.3033A>G (p.Thr1011=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2657640	NM_000722.4(CACNA2D1):c.3030G>A (p.Gly1010=)	CACNA2D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 532058	NM_000722.4(CACNA2D1):c.3027del (p.Thr1011fs)	CACNA2D1 (T1011fs +1 more)	Deletion (frameshift variant)	Brugada syndrome	GUncertain significance
Select item 3232267	NM_000722.4(CACNA2D1):c.3024C>T (p.Ser1008=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1958393	NM_000722.4(CACNA2D1):c.3016G>A (p.Val1006Ile)	CACNA2D1 (V1018I +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1798707	NM_000722.4(CACNA2D1):c.3001T>C (p.Leu1001=)	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 1665848	NM_000722.4(CACNA2D1):c.2997C>T (p.Thr999=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1798539	NM_000722.4(CACNA2D1):c.2992A>G (p.Asn998Asp)	CACNA2D1 (N1010D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 583050	NM_000722.4(CACNA2D1):c.2986C>A (p.Leu996Ile)	CACNA2D1 (L996I +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 421337	NM_000722.4(CACNA2D1):c.2983A>C (p.Lys995Gln)	CACNA2D1 (K995Q +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1155330	NM_000722.4(CACNA2D1):c.2973T>C (p.Phe991=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1488104	NM_000722.4(CACNA2D1):c.2969T>A (p.Ile990Asn)	CACNA2D1 (I1002N +1 more)	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 1798225	NM_000722.4(CACNA2D1):c.2967-3C>A	CACNA2D1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2073565	NM_000722.4(CACNA2D1):c.2967-9A>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 514868	NM_000722.4(CACNA2D1):c.2967-15A>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome +1 more	GLikely benign
Select item 1180248	NM_000722.4(CACNA2D1):c.2967-169T>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262100	NM_000722.4(CACNA2D1):c.2966+183A>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674612	NM_000722.4(CACNA2D1):c.2966+67_2966+95del	CACNA2D1	Microsatellite (intron variant)	not provided	GBenign
Select item 1549805	NM_000722.4(CACNA2D1):c.2966+4ATTT[2]	CACNA2D1	Microsatellite (intron variant)	Brugada syndrome	GLikely benign
Select item 2056378	NM_000722.4(CACNA2D1):c.2966+8A>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1798209	NM_000722.4(CACNA2D1):c.2965A>C (p.Arg989=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 1573027	NM_000722.4(CACNA2D1):c.2958C>T (p.Asn986=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1797958	NM_000722.4(CACNA2D1):c.2944T>C (p.Leu982=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1719167	NM_000722.4(CACNA2D1):c.2944T>A (p.Leu982Ile)	CACNA2D1 (L982I +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1797936	NM_000722.4(CACNA2D1):c.2943A>G (p.Val981=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 1797731	NM_000722.4(CACNA2D1):c.2923A>G (p.Ser975Gly)	CACNA2D1 (S975G +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1797712	NM_000722.4(CACNA2D1):c.2920G>A (p.Asp974Asn)	CACNA2D1 (D986N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 701444	NM_000722.4(CACNA2D1):c.2919C>T (p.Asn973=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 2082927	NM_000722.4(CACNA2D1):c.2918A>T (p.Asn973Ile)	CACNA2D1 (N973I +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GConflicting classifications of pathogenicity
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 393101	NM_000722.4(CACNA2D1):c.2914G>A (p.Asp972Asn)	CACNA2D1 (D972N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 3232265	NM_000722.4(CACNA2D1):c.2913C>T (p.Phe971=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1971919	NM_000722.4(CACNA2D1):c.2895A>G (p.Glu965=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2497631	NM_000722.4(CACNA2D1):c.2891C>A (p.Thr964Asn)	CACNA2D1 (T964N +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1415479	NM_000722.4(CACNA2D1):c.2881A>G (p.Ser961Gly)	CACNA2D1 (S961G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance

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