"GeneDx"[submitter] AND "CACNA1D"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 1260477	NM_001128840.3(CACNA1D):c.-181T>A	CACNA1D	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1206457	NM_001128840.3(CACNA1D):c.-178dup	CACNA1D	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 1192642	NM_001128840.3(CACNA1D):c.-54T>C	CACNA1D	Single nucleotide variant (5 prime UTR variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +2 more	GBenign
Select item 1333054	NM_001128840.3(CACNA1D):c.2TGA[8] (p.Met7dup)	CACNA1D	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3367791	NM_001128840.3(CACNA1D):c.7A>G (p.Met3Val)	CACNA1D (M3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504477	NM_001128840.3(CACNA1D):c.22A>G (p.Lys8Glu)	CACNA1D (K8E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305302	NM_001128840.3(CACNA1D):c.47A>G (p.Gln16Arg)	CACNA1D (Q16R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220145	NM_001128840.3(CACNA1D):c.68-8C>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1974483	NM_001128840.3(CACNA1D):c.89C>G (p.Thr30Ser)	CACNA1D (T30S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2430422	NM_001128840.3(CACNA1D):c.113G>A (p.Gly38Glu)	CACNA1D (G38E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377960	NM_001128840.3(CACNA1D):c.157del (p.Trp53fs)	CACNA1D (W53fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1304155	NM_001128840.3(CACNA1D):c.166G>C (p.Ala56Pro)	CACNA1D (A56P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389616	NM_001128840.3(CACNA1D):c.172G>A (p.Asp58Asn)	CACNA1D (D58N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129944	NM_001128840.3(CACNA1D):c.179C>T (p.Ala60Val)	CACNA1D (A60V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723115	NM_001128840.3(CACNA1D):c.191A>G (p.Lys64Arg)	CACNA1D (K64R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699655	NM_001128840.3(CACNA1D):c.206_208delinsCCCCCCTCT (p.Met69_Ser70delinsThrProLeuCys)	CACNA1D	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2499250	NM_001128840.3(CACNA1D):c.220C>G (p.Pro74Ala)	CACNA1D (P74A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504764	NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=)	CACNA1D	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 226469	NM_001128840.3(CACNA1D):c.264C>T (p.Tyr88=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1311642	NM_001128840.3(CACNA1D):c.280C>T (p.Gln94Ter)	CACNA1D (Q94*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3343448	NM_001128840.3(CACNA1D):c.346C>T (p.Arg116Ter)	CACNA1D (R116*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2416822	NM_001128840.3(CACNA1D):c.375G>C (p.Trp125Cys)	CACNA1D (W125C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195411	NM_001128840.3(CACNA1D):c.377+13T>G	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1194574	NM_001128840.3(CACNA1D):c.459T>C (p.Asp153=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1211465	NM_001128840.3(CACNA1D):c.483+108del	CACNA1D	Deletion (intron variant)	not provided	GLikely benign
Select item 1207979	NM_001128840.3(CACNA1D):c.483+345del	CACNA1D	Deletion (intron variant)	not provided	GLikely benign
Select item 2574545	NM_001128840.3(CACNA1D):c.511A>G (p.Ile171Val)	CACNA1D (I171V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1277071	NM_001128840.3(CACNA1D):c.623+58G>A	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684089	NM_001128840.3(CACNA1D):c.623+61G>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682763	NM_001128840.3(CACNA1D):c.623+94T>C	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2502633	NM_001128840.3(CACNA1D):c.661A>G (p.Thr221Ala)	CACNA1D (T221A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1192819	NM_001128840.3(CACNA1D):c.670G>A (p.Gly224Arg)	CACNA1D (G224R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185876	NM_001128840.3(CACNA1D):c.719G>A (p.Arg240His)	CACNA1D (R240H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372484	NM_001128840.3(CACNA1D):c.723_745dup (p.Arg249fs)	CACNA1D (R249fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1313618	NM_001128840.3(CACNA1D):c.731T>G (p.Val244Gly)	CACNA1D (V244G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574555	NM_001128840.3(CACNA1D):c.745C>T (p.Arg249Ter)	CACNA1D (R249*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1302713	NM_001128840.3(CACNA1D):c.757G>T (p.Gly253Ter)	CACNA1D (G253*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1302499	NM_001128840.3(CACNA1D):c.757G>A (p.Gly253Arg)	CACNA1D (G253R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302132	NM_001128840.3(CACNA1D):c.766A>C (p.Ser256Arg)	CACNA1D (S256R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1186680	NM_001128840.3(CACNA1D):c.766+107G>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275029	NM_001128840.3(CACNA1D):c.766+217T>C	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247070	NM_001128840.3(CACNA1D):c.767-160A>G	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223836	NM_001128840.3(CACNA1D):c.767-12dup	CACNA1D	Duplication (intron variant)	not provided	GLikely benign
Select item 2580195	NM_001128840.3(CACNA1D):c.776T>A (p.Val259Asp)	CACNA1D (V259D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1642062	NM_001128840.3(CACNA1D):c.789C>G (p.Ser263=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 682564	NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1181136	NM_001128840.3(CACNA1D):c.919+243A>G	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212512	NM_001128840.3(CACNA1D):c.919+245A>G	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204940	NM_001128840.3(CACNA1D):c.920-240_920-217dup	CACNA1D	Duplication (intron variant)	not provided	GLikely benign
Select item 684163	NM_001128840.3(CACNA1D):c.920-89G>A	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267484	NM_001128840.3(CACNA1D):c.920-62G>A	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182324	NM_001128840.3(CACNA1D):c.920-39T>G	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208174	NM_001128840.3(CACNA1D):c.920-13G>C	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 226480	NM_001128840.3(CACNA1D):c.927A>G (p.Val309=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 226481	NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=)	CACNA1D	Single nucleotide variant (synonymous variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +3 more	GBenign/Likely benign
Select item 1253949	NM_001128840.3(CACNA1D):c.962G>A (p.Gly321Glu)	CACNA1D (G321E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1065579	NM_001128840.3(CACNA1D):c.971G>A (p.Arg324His)	CACNA1D (R324H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3378160	NM_001128840.3(CACNA1D):c.976T>C (p.Cys326Arg)	CACNA1D (C326R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310783	NM_001128840.3(CACNA1D):c.1007G>T (p.Gly336Val)	CACNA1D (G336V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698079	NM_001128840.3(CACNA1D):c.1011G>A (p.Trp337Ter)	CACNA1D (W337*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1700800	NM_001128840.3(CACNA1D):c.1023C>A (p.Asn341Lys)	CACNA1D (N341K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216823	NM_001128840.3(CACNA1D):c.1023C>T (p.Asn341=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 432376	NM_001128840.3(CACNA1D):c.1024G>A (p.Gly342Arg)	CACNA1D (G342R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226467	NM_001128840.3(CACNA1D):c.1104T>C (p.Asp368=)	CACNA1D	Single nucleotide variant (synonymous variant)	Sinoatrial node dysfunction and deafness +3 more	GBenign
Select item 1238100	NM_001128840.3(CACNA1D):c.1116+142A>G	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260719	NM_001128840.3(CACNA1D):c.1116+180T>G	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280668	NM_001128840.3(CACNA1D):c.1117-287C>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288144	NM_001128840.3(CACNA1D):c.1117-264TG[26]	CACNA1D	Microsatellite (intron variant)	not provided	GBenign
Select item 1266311	NM_001128840.3(CACNA1D):c.1117-264TG[27]	CACNA1D	Microsatellite (intron variant)	not provided	GBenign
Select item 1265720	NM_001128840.3(CACNA1D):c.1117-264TG[28]	CACNA1D	Microsatellite (intron variant)	not provided	GBenign
Select item 1249158	NM_001128840.3(CACNA1D):c.1117-264TG[24]	CACNA1D	Microsatellite (intron variant)	not provided	GBenign
Select item 1245789	NM_001128840.3(CACNA1D):c.1117-264TG[22]	CACNA1D	Microsatellite (intron variant)	not provided	GBenign
Select item 1229245	NM_001128840.3(CACNA1D):c.1117-264TG[23]	CACNA1D	Microsatellite (intron variant)	not provided	GBenign
Select item 1216434	NM_001128840.3(CACNA1D):c.1117-206_1117-201del	CACNA1D	Deletion (intron variant)	not provided	GLikely benign
Select item 1202192	NM_001128840.3(CACNA1D):c.1117-204_1117-201del	CACNA1D	Deletion (intron variant)	not provided	GLikely benign
Select item 1204864	NM_001128840.3(CACNA1D):c.1220+18C>A	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235191	NM_001128840.3(CACNA1D):c.1220+451del	CACNA1D	Deletion (intron variant)	not provided	GBenign
Select item 1182409	NM_001128840.3(CACNA1D):c.1220+450_1220+451del	CACNA1D	Deletion (intron variant)	not provided	GBenign
Select item 1958829	NM_000720.4(CACNA1D):c.1145C>T (p.Pro382Leu)	CACNA1D (P382L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367622	NM_000720.4(CACNA1D):c.1177G>A (p.Gly393Ser)	CACNA1D (G393S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 226468	NM_001128840.3(CACNA1D):c.1220+700C>T	CACNA1D	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1221149	NM_001128840.3(CACNA1D):c.1221-111A>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198669	NM_001128840.3(CACNA1D):c.1221-72G>A	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681145	NM_001128840.3(CACNA1D):c.1221-3C>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1313034	NM_001128840.3(CACNA1D):c.1277G>A (p.Arg426Gln)	CACNA1D (R426Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695605	NM_001128840.3(CACNA1D):c.1300G>T (p.Asp434Tyr)	CACNA1D (D434Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314058	NM_001128840.3(CACNA1D):c.1342A>G (p.Ile448Val)	CACNA1D (I448V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504765	NM_001128840.3(CACNA1D):c.1344C>T (p.Ile448=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2580510	NM_001128840.3(CACNA1D):c.1348C>T (p.Pro450Ser)	CACNA1D (P450S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666616	NM_001128840.3(CACNA1D):c.1350G>A (p.Pro450=)	CACNA1D	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 228464	NM_001128840.3(CACNA1D):c.1351G>C (p.Glu451Gln)	CACNA1D (E451Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3371777	NM_001128840.3(CACNA1D):c.1376_1379dup (p.Lys461fs)	CACNA1D (K461fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 252494	NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser)	CACNA1D (G460S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1442424	NM_001128840.3(CACNA1D):c.1385G>A (p.Arg462Gln)	CACNA1D (R462Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 504802	NM_001128840.3(CACNA1D):c.1389T>G (p.Asn463Lys)	CACNA1D (N463K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1202762	NM_001128840.3(CACNA1D):c.1390+158G>A	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275992	NM_001128840.3(CACNA1D):c.1391-208T>C	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179850	NM_001128840.3(CACNA1D):c.1391-182C>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197147	NM_001128840.3(CACNA1D):c.1391-130C>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign

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