CACNA1C-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 152732	GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	ADIPOR2, B4GALNT3 +142 more	Copy number loss	See cases	GPathogenic
Select item 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	ADIPOR2, B4GALNT3 +147 more	Copy number loss	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 148625	GRCh38/hg38 12p13.33(chr12:80412-2850599)x1	ADIPOR2, B4GALNT3 +114 more	Copy number loss	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 154528	GRCh38/hg38 12p13.33(chr12:121255-3003320)x1	ADIPOR2, B4GALNT3 +123 more	Copy number loss	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 57044	GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	ADIPOR2, B4GALNT3 +146 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 59798	GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3	ADIPOR2, B4GALNT3 +126 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 153115	GRCh38/hg38 12p13.33-13.32(chr12:2188620-3361190)x3	CACNA1C, CACNA1C-AS1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 58983	GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1	AKAP3, CACNA1C +91 more	Copy number loss	See cases	GPathogenic
Select item 148777	GRCh38/hg38 12p13.33(chr12:2543999-2698761)x3	CACNA1C, CACNA1C-AS1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 153100	GRCh38/hg38 12p13.33-13.32(chr12:2619985-3489688)x3	CACNA1C, CACNA1C-AS1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 1234525	NM_000719.7(CACNA1C):c.4829-298A>G	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 673566	NM_000719.7(CACNA1C):c.4829-145C>G	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GBenign
Select item 1194795	NM_000719.7(CACNA1C):c.4829-67dup	CACNA1C, CACNA1C-AS1	Duplication (intron variant +1 more)	not provided	GLikely benign
Select item 1292348	NM_000719.7(CACNA1C):c.4829-24CT[3]	CACNA1C, CACNA1C-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2798885	NM_000719.7(CACNA1C):c.4829-17C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 2180144	NM_000719.7(CACNA1C):c.4829-17C>G	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant +1 more)	Long QT syndrome	GLikely benign
Select item 1576304	NM_000719.7(CACNA1C):c.4829-14_4829-8del	CACNA1C, CACNA1C-AS1	Deletion (intron variant +1 more)	Long QT syndrome	GLikely benign
Select item 377611	NM_000719.7(CACNA1C):c.4829-8C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GLikely benign
Select item 136629	NM_000719.7(CACNA1C):c.4829-7G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 3232237	NM_000719.7(CACNA1C):c.4829-3C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1498256	NM_000719.7(CACNA1C):c.4830T>G (p.Asp1610Glu)	CACNA1C, CACNA1C-AS1 (D1607E +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1489354	NM_000719.7(CACNA1C):c.4837G>T (p.Val1613Phe)	CACNA1C, CACNA1C-AS1 (V1632F +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 456973	NM_000719.7(CACNA1C):c.4837G>A (p.Val1613Ile)	CACNA1C, CACNA1C-AS1 (V1613I +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GUncertain significance
Select item 2819172	NM_000719.7(CACNA1C):c.4839C>A (p.Val1613=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 1113114	NM_000719.7(CACNA1C):c.4842C>T (p.Thr1614=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2895326	NM_000719.7(CACNA1C):c.4843G>A (p.Val1615Ile)	CACNA1C, CACNA1C-AS1 (V1604I +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1160375	NM_000719.7(CACNA1C):c.4857C>T (p.Tyr1619=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Timothy syndrome +4 more	GLikely benign
Select item 939667	NM_000719.7(CACNA1C):c.4858G>A (p.Ala1620Thr)	CACNA1C, CACNA1C-AS1 (A1640T +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 386642	NM_000719.7(CACNA1C):c.4860C>A (p.Ala1620=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1310690	NM_000719.7(CACNA1C):c.4862C>T (p.Thr1621Met)	CACNA1C, CACNA1C-AS1 (T1610M +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1648646	NM_000719.7(CACNA1C):c.4863G>A (p.Thr1621=)	CACNA1C-AS1, CACNA1C	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 2762002	NM_000719.7(CACNA1C):c.4869G>T (p.Leu1623=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 2921274	NM_000719.7(CACNA1C):c.4873C>T (p.Gln1625Ter)	CACNA1C, CACNA1C-AS1 (Q1614* +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1562541	NM_000719.7(CACNA1C):c.4878G>A (p.Glu1626=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 1001697	NM_000719.7(CACNA1C):c.4879T>A (p.Tyr1627Asn)	CACNA1C, CACNA1C-AS1 (Y1633N +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1139090	NM_000719.7(CACNA1C):c.4881C>T (p.Tyr1627=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 1743814	NM_000719.7(CACNA1C):c.4885C>T (p.Arg1629Trp)	CACNA1C, CACNA1C-AS1 (R1637W +10 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2452665	NM_000719.7(CACNA1C):c.4886G>A (p.Arg1629Gln)	CACNA1C, CACNA1C-AS1 (R1626Q +10 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1085257	NM_000719.7(CACNA1C):c.4887G>A (p.Arg1629=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 1130741	NM_000719.7(CACNA1C):c.4890G>A (p.Lys1630=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1129381	NM_000719.7(CACNA1C):c.4893C>T (p.Phe1631=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 697747	NM_000719.7(CACNA1C):c.4899G>A (p.Lys1633=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 3234370	NM_000719.7(CACNA1C):c.4900C>T (p.Arg1634Cys)	CACNA1C, CACNA1C-AS1 (R1623C +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1374493	NM_000719.7(CACNA1C):c.4901G>A (p.Arg1634His)	CACNA1C, CACNA1C-AS1 (R1642H +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2855606	NM_000719.7(CACNA1C):c.4908G>A (p.Glu1636=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 1806122	NM_000719.7(CACNA1C):c.4910A>G (p.Gln1637Arg)	CACNA1C, CACNA1C-AS1 (Q1626R +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 190693	NM_000719.7(CACNA1C):c.4910_4912del (p.Gln1637_Gly1638delinsArg)	CACNA1C, CACNA1C-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2823898	NM_000719.7(CACNA1C):c.4911G>C (p.Gln1637His)	CACNA1C, CACNA1C-AS1 (Q1637H +10 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2121784	NM_000719.7(CACNA1C):c.4912G>A (p.Gly1638Ser)	CACNA1C, CACNA1C-AS1 (G1646S +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1541599	NM_000719.7(CACNA1C):c.4914C>T (p.Gly1638=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 2121081	NM_000719.7(CACNA1C):c.4917T>C (p.Leu1639=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 1059194	NM_000719.7(CACNA1C):c.4918G>A (p.Val1640Met)	CACNA1C, CACNA1C-AS1 (V1629M +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1145692	NM_000719.7(CACNA1C):c.4920G>A (p.Val1640=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2738347	NM_000719.7(CACNA1C):c.4923C>A (p.Gly1641=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 190674	NM_000719.7(CACNA1C):c.4927C>T (p.Pro1643Ser)	CACNA1C, CACNA1C-AS1 (P1643S +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1010173	NM_000719.7(CACNA1C):c.4941C>G (p.Asn1647Lys)	CACNA1C, CACNA1C-AS1 (N1636K +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 416868	NM_000719.7(CACNA1C):c.4941C>T (p.Asn1647=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2058730	NM_000719.7(CACNA1C):c.4942G>C (p.Ala1648Pro)	CACNA1C, CACNA1C-AS1 (A1645P +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 197406	NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr)	CACNA1C, CACNA1C-AS1 (A1648T +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1468528	NM_000719.7(CACNA1C):c.4943C>T (p.Ala1648Val)	CACNA1C, CACNA1C-AS1 (A1656V +10 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 385538	NM_000719.7(CACNA1C):c.4944G>A (p.Ala1648=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 3232238	NM_000719.7(CACNA1C):c.4945C>T (p.Leu1649=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1699479	NM_000719.7(CACNA1C):c.4946T>C (p.Leu1649Pro)	CACNA1C, CACNA1C-AS1 (L1638P +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Timothy syndrome	GUncertain significance
Select item 698668	NM_000719.7(CACNA1C):c.4947G>A (p.Leu1649=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 1388772	NM_000719.7(CACNA1C):c.4949C>G (p.Ser1650Cys)	CACNA1C, CACNA1C-AS1 (S1650C +10 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 870095	NM_000719.7(CACNA1C):c.4956+5G>C	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1979501	NM_000719.7(CACNA1C):c.4956+7G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant +1 more)	Long QT syndrome	GLikely benign
Select item 698360	NM_000719.7(CACNA1C):c.4956+8C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 747894	NM_000719.7(CACNA1C):c.4956+10T>G	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 2842099	NM_000719.7(CACNA1C):c.4956+11G>C	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 1985474	NM_000719.7(CACNA1C):c.4956+12G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 678680	NM_000719.7(CACNA1C):c.4956+13G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 2085964	NM_000719.7(CACNA1C):c.4956+15G>A	CACNA1C-AS1, CACNA1C	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 379056	NM_000719.7(CACNA1C):c.4956+16C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 811053	NM_000719.7(CACNA1C):c.4956+17G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GBenign
Select item 2182622	NM_000719.7(CACNA1C):c.4956+18G>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 1289795	NM_000719.7(CACNA1C):c.4956+147_4956+149dup	CACNA1C, CACNA1C-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 695149	NM_000719.7(CACNA1C):c.4957-222G>C	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GBenign
Select item 695174	NM_000719.7(CACNA1C):c.4957-207C>T	CACNA1C-AS1, CACNA1C	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1194219	NM_000719.7(CACNA1C):c.4957-48_4957-41dup	CACNA1C, CACNA1C-AS1	Duplication (intron variant +1 more)	not provided	GLikely benign
Select item 1188071	NM_000719.7(CACNA1C):c.4957-32G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1533941	NM_000719.7(CACNA1C):c.4957-20A>G	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 1616593	NM_000719.7(CACNA1C):c.4957-15C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Timothy syndrome +3 more	GLikely benign
Select item 517693	NM_000719.7(CACNA1C):c.4957-12C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2573713	NM_000719.7(CACNA1C):c.4957-1G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2704660	NM_000719.7(CACNA1C):c.4958C>T (p.Ala1653Val)	CACNA1C, CACNA1C-AS1 (A1653V +10 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance

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