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 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 60057	GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1	ACTR8, ARHGEF3 +53 more	Copy number loss	See cases	GUncertain significance
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 2232940	NM_001128840.3(CACNA1D):c.2TGA[9] (p.Met7_Lys8insMetMet)	CACNA1D	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1333054	NM_001128840.3(CACNA1D):c.2TGA[8] (p.Met7dup)	CACNA1D	Microsatellite (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 2910639	NM_001128840.3(CACNA1D):c.2TGA[3] (p.Met4_Met7del)	CACNA1D	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1521940	NM_001128840.3(CACNA1D):c.2TGA[6] (p.Met7del)	CACNA1D (M7del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1445477	NM_001128840.3(CACNA1D):c.2TGA[4] (p.Met5_Met7del)	CACNA1D	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2114788	NM_001128840.3(CACNA1D):c.5T>C (p.Met2Thr)	CACNA1D (M2T)	Single nucleotide variant (missense variant)	not provided	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 3337010	NM_001128840.3(CACNA1D):c.28del (p.Met10fs)	CACNA1D (M10fs)	Deletion (frameshift 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 1948828	NM_001128840.3(CACNA1D):c.23_24delinsTG (p.Lys8Met)	CACNA1D (K8M)	Indel (missense variant)	not provided	GUncertain significance
Select item 2848461	NM_001128840.3(CACNA1D):c.36T>C (p.His12=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000827	NM_001128840.3(CACNA1D):c.40C>T (p.Arg14Trp)	CACNA1D (R14W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493473	NM_001128840.3(CACNA1D):c.41G>A (p.Arg14Gln)	CACNA1D (R14Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041936	NM_001128840.3(CACNA1D):c.42G>T (p.Arg14=)	CACNA1D	Single nucleotide variant (synonymous 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 2701670	NM_001128840.3(CACNA1D):c.60C>A (p.His20Gln)	CACNA1D (H20Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3262732	NM_001128840.3(CACNA1D):c.61G>A (p.Ala21Thr)	CACNA1D (A21T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2771525	NM_001128840.3(CACNA1D):c.62C>G (p.Ala21Gly)	CACNA1D (A21G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1639567	NM_001128840.3(CACNA1D):c.67+10C>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966430	NM_001128840.3(CACNA1D):c.67+11A>G	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032573	NM_001128840.3(CACNA1D):c.67+13A>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992804	NM_001128840.3(CACNA1D):c.67+16C>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993840	NM_001128840.3(CACNA1D):c.67+17C>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634268	NM_001128840.3(CACNA1D):c.67+18G>A	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1711577	NM_001128840.3(CACNA1D):c.67+734del	CACNA1D	Deletion (intron variant)	not provided	GBenign
Select item 3003107	NM_001128840.3(CACNA1D):c.68-11C>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220145	NM_001128840.3(CACNA1D):c.68-8C>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3007807	NM_001128840.3(CACNA1D):c.71C>G (p.Ala24Gly)	CACNA1D (A24G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746916	NM_001128840.3(CACNA1D):c.72A>G (p.Ala24=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1120067	NM_001128840.3(CACNA1D):c.74A>G (p.Asn25Ser)	CACNA1D (N25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321479	NM_001128840.3(CACNA1D):c.82A>G (p.Arg28Gly)	CACNA1D (R28G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2096785	NM_001128840.3(CACNA1D):c.101T>C (p.Leu34Pro)	CACNA1D (L34P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098109	NM_001128840.3(CACNA1D):c.105T>C (p.Ser35=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1423297	NM_001128840.3(CACNA1D):c.127C>T (p.Pro43Ser)	CACNA1D (P43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2977908	NM_001128840.3(CACNA1D):c.128C>T (p.Pro43Leu)	CACNA1D (P43L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1537101	NM_001128840.3(CACNA1D):c.129G>A (p.Pro43=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819180	NM_001128840.3(CACNA1D):c.130A>C (p.Asn44His)	CACNA1D (N44H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 667074	NM_001128840.3(CACNA1D):c.132T>C (p.Asn44=)	CACNA1D	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2960489	NM_001128840.3(CACNA1D):c.148G>C (p.Val50Leu)	CACNA1D (V50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421329	NM_001128840.3(CACNA1D):c.149T>C (p.Val50Ala)	CACNA1D (V50A)	Single nucleotide variant (missense variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +2 more	GUncertain significance
Select item 1952334	NM_001128840.3(CACNA1D):c.150C>T (p.Val50=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2118366	NM_001128840.3(CACNA1D):c.168A>T (p.Ala56=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919009	NM_001128840.3(CACNA1D):c.171C>T (p.Ile57=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 2968009	NM_001128840.3(CACNA1D):c.183A>G (p.Arg61=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003148	NM_001128840.3(CACNA1D):c.186G>A (p.Gln62=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2875315	NM_001128840.3(CACNA1D):c.195T>C (p.Ala65=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763782	NM_001128840.3(CACNA1D):c.198C>T (p.Ala66=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958972	NM_001128840.3(CACNA1D):c.205A>G (p.Met69Val)	CACNA1D (M69V)	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 2744440	NM_001128840.3(CACNA1D):c.212C>T (p.Thr71Ile)	CACNA1D (T71I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061078	NM_001128840.3(CACNA1D):c.218C>T (p.Ala73Val)	CACNA1D (A73V)	Single nucleotide variant (missense variant)	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)	Sinoatrial node dysfunction and deafness +3 more	GLikely benign
Select item 1556379	NM_001128840.3(CACNA1D):c.228T>C (p.Pro76=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2483913	NM_001128840.3(CACNA1D):c.235T>A (p.Ser79Thr)	CACNA1D (S79T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3358896	NM_001128840.3(CACNA1D):c.236C>A (p.Ser79Tyr)	CACNA1D (S79Y)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	GUncertain significance
Select item 1605575	NM_001128840.3(CACNA1D):c.237T>G (p.Ser79=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805276	NM_001128840.3(CACNA1D):c.242C>G (p.Ser81Cys)	CACNA1D (S81C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943056	NM_001128840.3(CACNA1D):c.253C>T (p.Arg85Cys)	CACNA1D (R85C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858101	NM_001128840.3(CACNA1D):c.262T>C (p.Tyr88His)	CACNA1D (Y88H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1429350	NM_001128840.3(CACNA1D):c.265G>A (p.Ala89Thr)	CACNA1D (A89T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390166	NM_001128840.3(CACNA1D):c.272G>A (p.Ser91Asn)	CACNA1D (S91N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786058	NM_001128840.3(CACNA1D):c.279A>G (p.Lys93=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1952335	NM_001128840.3(CACNA1D):c.288C>T (p.Asn96=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987096	NM_001128840.3(CACNA1D):c.290C>T (p.Ser97Leu)	CACNA1D (S97L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642662	NM_001128840.3(CACNA1D):c.291G>T (p.Ser97=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762134	NM_001128840.3(CACNA1D):c.291G>A (p.Ser97=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088280	NM_001128840.3(CACNA1D):c.293C>T (p.Ser98Phe)	CACNA1D (S98F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1539379	NM_001128840.3(CACNA1D):c.294C>T (p.Ser98=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907825	NM_001128840.3(CACNA1D):c.298A>G (p.Ser100Gly)	CACNA1D (S100G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002256	NM_001128840.3(CACNA1D):c.301C>A (p.Arg101=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008532	NM_001128840.3(CACNA1D):c.302G>A (p.Arg101Gln)	CACNA1D (R101Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124029	NM_001128840.3(CACNA1D):c.307G>A (p.Ala103Thr)	CACNA1D (A103T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589353	NM_001128840.3(CACNA1D):c.312C>T (p.Arg104=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426646	NM_001128840.3(CACNA1D):c.313G>A (p.Ala105Thr)	CACNA1D (A105T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567989	NM_001128840.3(CACNA1D):c.330A>G (p.Ser110=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517567	NM_001128840.3(CACNA1D):c.335A>G (p.Asn112Ser)	CACNA1D (N112S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696138	NM_001128840.3(CACNA1D):c.339C>T (p.Asn113=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3343448	NM_001128840.3(CACNA1D):c.346C>T (p.Arg116Ter)	CACNA1D (R116*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1928881	NM_001128840.3(CACNA1D):c.353C>G (p.Ala118Gly)	CACNA1D (A118G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376866	NM_001128840.3(CACNA1D):c.362G>A (p.Ser121Asn)	CACNA1D (S121N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795086	NM_001128840.3(CACNA1D):c.364A>G (p.Ile122Val)	CACNA1D (I122V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1664085	NM_001128840.3(CACNA1D):c.369G>A (p.Val123=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364818	NM_001128840.3(CACNA1D):c.370_371insGCTATACTATAAAAAGGAT (p.Glu124fs)	CACNA1D (E124fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1424142	NM_001128840.3(CACNA1D):c.372A>C (p.Glu124Asp)	CACNA1D (E124D)	Single nucleotide variant (missense variant)	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

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