"GeneDx"[submitter] AND "CACNA2D1"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 223

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
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 512901	NM_000722.4(CACNA2D1):c.3265C>T (p.Arg1089Cys)	CACNA2D1 (R1089C +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GLikely benign
Select item 215476	NM_000722.4(CACNA2D1):c.3160-18dup	CACNA2D1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 506746	NM_000722.4(CACNA2D1):c.3160-19_3160-15del	CACNA2D1	Microsatellite (intron variant)	Brugada syndrome +1 more	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 263797	NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala)	CACNA2D1 (D1045A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
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 1316306	NM_000722.4(CACNA2D1):c.3076+61G>A	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 514868	NM_000722.4(CACNA2D1):c.2967-15A>G	CACNA2D1	Single nucleotide variant (intron variant)	not specified +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 393101	NM_000722.4(CACNA2D1):c.2914G>A (p.Asp972Asn)	CACNA2D1 (D972N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 391156	NM_000722.4(CACNA2D1):c.2869C>T (p.Leu957=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 506886	NM_000722.4(CACNA2D1):c.2853T>C (p.Asp951=)	CACNA2D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 416575	NM_000722.4(CACNA2D1):c.2837-7A>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome +1 more	GBenign/Likely benign
Select item 1317999	NM_000722.4(CACNA2D1):c.2837-70C>T	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269230	NM_000722.4(CACNA2D1):c.2836+40A>C	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296265	NM_000722.4(CACNA2D1):c.2781-142_2781-139dup	CACNA2D1	Duplication (intron variant)	not provided	GBenign
Select item 1226323	NM_000722.4(CACNA2D1):c.2780+152A>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422555	NM_000722.4(CACNA2D1):c.2776G>C (p.Ala926Pro)	CACNA2D1 (A926P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 580176	NM_000722.4(CACNA2D1):c.2751A>T (p.Gln917His)	CACNA2D1 (Q917H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1235764	NM_000722.4(CACNA2D1):c.2728-30C>T	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509847	NM_000722.4(CACNA2D1):c.2727+8del	CACNA2D1	Deletion (intron variant)	Brugada syndrome +2 more	GBenign/Likely benign
Select item 512548	NM_000722.4(CACNA2D1):c.2682C>T (p.Pro894=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 263618	NM_000722.4(CACNA2D1):c.2673A>G (p.Val891=)	CACNA2D1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1222932	NM_000722.4(CACNA2D1):c.2575-94T>C	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509592	NM_000722.4(CACNA2D1):c.2502C>T (p.Asp834=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1296263	NM_000722.4(CACNA2D1):c.2463+99A>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391190	NM_000722.4(CACNA2D1):c.2463+13T>A	CACNA2D1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 373662	NM_000722.4(CACNA2D1):c.2397T>A (p.Val799=)	CACNA2D1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 674636	NM_000722.4(CACNA2D1):c.2395+147T>C	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316297	NM_000722.4(CACNA2D1):c.2395+75dup	CACNA2D1	Duplication (intron variant)	not provided	GLikely benign
Select item 264556	NM_000722.4(CACNA2D1):c.2333C>T (p.Ser778Leu)	CACNA2D1 (S778L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 463223	NM_000722.4(CACNA2D1):c.2309-9T>A	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome +2 more	GBenign/Likely benign
Select item 1179273	NM_000722.4(CACNA2D1):c.2309-194A>T	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674767	NM_000722.4(CACNA2D1):c.2308+209C>T	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 180288	NM_000722.4(CACNA2D1):c.2264G>C (p.Ser755Thr)	CACNA2D1 (S755T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign
Select item 507185	NM_000722.4(CACNA2D1):c.2205-18G>A	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome +1 more	GBenign
Select item 681149	NM_000722.4(CACNA2D1):c.2205-153G>A	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681148	NM_000722.4(CACNA2D1):c.2142-29A>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674594	NM_000722.4(CACNA2D1):c.2142-144T>C	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674593	NM_000722.4(CACNA2D1):c.2142-214A>C	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681147	NM_000722.4(CACNA2D1):c.2141+216C>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318041	NM_000722.4(CACNA2D1):c.2141+24A>C	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 416572	NM_000722.4(CACNA2D1):c.2126G>A (p.Ser709Asn)	CACNA2D1 (S709N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 507410	NM_000722.4(CACNA2D1):c.2085T>C (p.Leu695=)	CACNA2D1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 519383	NM_000722.4(CACNA2D1):c.2058C>T (p.Asn686=)	CACNA2D1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 512682	NM_000722.4(CACNA2D1):c.2054-20A>G	CACNA2D1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1318008	NM_000722.4(CACNA2D1):c.2054-51_2054-49del	CACNA2D1	Deletion (intron variant)	not provided	GLikely benign
Select item 674592	NM_000722.4(CACNA2D1):c.2054-51G>C	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270191	NM_000722.4(CACNA2D1):c.2053+136G>A	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 238180	NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome +2 more	GBenign/Likely benign
Select item 1102946	NM_000722.4(CACNA2D1):c.1965C>T (p.Cys655=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome +2 more	GLikely benign
Select item 215475	NM_000722.4(CACNA2D1):c.1956-12_1956-11dup	CACNA2D1	Duplication (intron variant)	Cardiovascular phenotype +3 more	GBenign
Select item 416578	NM_000722.4(CACNA2D1):c.1956-4del	CACNA2D1	Deletion (intron variant)	Brugada syndrome +2 more	GBenign/Likely benign
Select item 1230958	NM_000722.4(CACNA2D1):c.1956-78del	CACNA2D1	Deletion (intron variant)	not provided	GBenign
Select item 674591	NM_000722.4(CACNA2D1):c.1956-99del	CACNA2D1	Deletion (intron variant)	not provided	GBenign
Select item 675418	NM_000722.4(CACNA2D1):c.1956-203G>A	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678451	NM_000722.4(CACNA2D1):c.1956-235_1956-234insACCTAAT	CACNA2D1	Insertion (intron variant)	not provided	GBenign
Select item 1290507	NM_000722.4(CACNA2D1):c.1956-270A>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317658	NM_000722.4(CACNA2D1):c.1955+204C>T	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390729	NM_000722.4(CACNA2D1):c.1899G>A (p.Ser633=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome +2 more	GLikely benign
Select item 422513	NM_000722.4(CACNA2D1):c.1880A>G (p.Lys627Arg)	CACNA2D1 (K627R)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome +1 more	GUncertain significance
Select item 1318281	NM_000722.4(CACNA2D1):c.1874-283G>A	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669609	NM_000722.4(CACNA2D1):c.1874-310A>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316412	NM_000722.4(CACNA2D1):c.1873+210C>A	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 391258	NM_000722.4(CACNA2D1):c.1873+14A>T	CACNA2D1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 453197	NM_000722.4(CACNA2D1):c.1848_1863del (p.Glu617fs)	CACNA2D1 (E617fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 511058	NM_000722.4(CACNA2D1):c.1796+8A>G	CACNA2D1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 392779	NM_000722.4(CACNA2D1):c.1740T>C (p.Tyr580=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 511685	NM_000722.4(CACNA2D1):c.1735-6T>C	CACNA2D1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 695233	NM_000722.4(CACNA2D1):c.1735-8del	CACNA2D1	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 391441	NM_000722.4(CACNA2D1):c.1735-17G>A	CACNA2D1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1316253	NM_000722.4(CACNA2D1):c.1735-38dup	CACNA2D1	Duplication (intron variant)	not provided	GLikely benign
Select item 1318043	NM_000722.4(CACNA2D1):c.1735-204G>T	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225497	NM_000722.4(CACNA2D1):c.1734+242A>T	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293708	NM_000722.4(CACNA2D1):c.1734+38A>T	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 696547	NM_000722.4(CACNA2D1):c.1686G>C (p.Gly562=)	CACNA2D1	Single nucleotide variant (synonymous variant)	CACNA2D1-related condition +3 more	GLikely benign
Select item 682480	NM_000722.4(CACNA2D1):c.1671T>C (p.Asn557=)	CACNA2D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1316143	NM_000722.4(CACNA2D1):c.1663-157del	CACNA2D1	Deletion (intron variant)	not provided	GLikely benign
Select item 1237714	NM_000722.4(CACNA2D1):c.1663-304C>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296274	NM_000722.4(CACNA2D1):c.1662+139C>T	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253026	NM_000722.4(CACNA2D1):c.1662+130G>A	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514182	NM_000722.4(CACNA2D1):c.1662+15T>C	CACNA2D1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 509921	NM_000722.4(CACNA2D1):c.1611A>G (p.Pro537=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1262893	NM_000722.4(CACNA2D1):c.1591-71G>A	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283956	NM_000722.4(CACNA2D1):c.1591-160TA[6]	CACNA2D1	Microsatellite (intron variant)	not provided	GBenign
Select item 1251786	NM_000722.4(CACNA2D1):c.1591-209_1591-206dup	CACNA2D1	Duplication (intron variant)	not provided	GBenign
Select item 1316277	NM_000722.4(CACNA2D1):c.1591-208T>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276902	NM_000722.4(CACNA2D1):c.1591-228C>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230331	NM_000722.4(CACNA2D1):c.1591-257T>C	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267317	NM_000722.4(CACNA2D1):c.1591-289A>G	CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516027	NM_000722.4(CACNA2D1):c.1590+19T>C	CACNA2D1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 220552	NM_000722.4(CACNA2D1):c.1530G>A (p.Gly510=)	CACNA2D1	Single nucleotide variant (synonymous variant)	CACNA2D1-related condition +3 more	GLikely benign
Select item 506504	NM_000722.4(CACNA2D1):c.1516-9C>T	CACNA2D1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

<< First< Prev

Page of 3