CACNA1C-AS2[gene] - ClinVar

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

Search results

Items: 73

	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	ACAD10, ACADS +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 673266	NM_000719.7(CACNA1C):c.4624-331A>G	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1199631	NM_000719.7(CACNA1C):c.4624-297A>G	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 695632	NM_000719.7(CACNA1C):c.4624-47A>G	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GBenign
Select item 1231358	NM_000719.7(CACNA1C):c.4624-38C>G	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1971067	NM_000719.7(CACNA1C):c.4624-19T>C	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 136627	NM_000719.7(CACNA1C):c.4624-9C>T	CACNA1C-AS2, CACNA1C	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 1090664	NM_000719.7(CACNA1C):c.4624-8G>T	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 197026	NM_000719.7(CACNA1C):c.4624-8G>A	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1603339	NM_000719.7(CACNA1C):c.4624-6del	CACNA1C, CACNA1C-AS2	Deletion (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 2164879	NM_000719.7(CACNA1C):c.4624-4G>A	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 575073	NM_000719.7(CACNA1C):c.4625G>A (p.Arg1542His)	CACNA1C, CACNA1C-AS2 (R1542H +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 526959	NM_000719.7(CACNA1C):c.4625G>T (p.Arg1542Leu)	CACNA1C, CACNA1C-AS2 (R1542L +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3232235	NM_000719.7(CACNA1C):c.4627C>T (p.Leu1543=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1741996	NM_000719.7(CACNA1C):c.4629G>T (p.Leu1543=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1741995	NM_000719.7(CACNA1C):c.4629G>A (p.Leu1543=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2992479	NM_000719.7(CACNA1C):c.4632C>T (p.Val1544=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 934640	NM_000719.7(CACNA1C):c.4637T>C (p.Met1546Thr)	CACNA1C, CACNA1C-AS2 (M1574T +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 93408	NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2752807	NM_000719.7(CACNA1C):c.4653C>T (p.Asn1551=)	CACNA1C-AS2, CACNA1C	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 1345178	NM_000719.7(CACNA1C):c.4653C>G (p.Asn1551Lys)	CACNA1C, CACNA1C-AS2 (N1548K +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3363453	NM_000719.7(CACNA1C):c.4654A>G (p.Ser1552Gly)	CACNA1C, CACNA1C-AS2 (S1539G +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1535961	NM_000719.7(CACNA1C):c.4656C>T (p.Ser1552=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 1677559	NM_000719.7(CACNA1C):c.4657G>A (p.Asp1553Asn)	CACNA1C, CACNA1C-AS2 (D1540N +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 136628	NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 835382	NM_000719.7(CACNA1C):c.4666_4669dup (p.Met1557fs)	CACNA1C, CACNA1C-AS2 (M1577fs +8 more)	Duplication (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 2184924	NM_000719.7(CACNA1C):c.4668C>T (p.Val1556=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 749679	NM_000719.7(CACNA1C):c.4683C>T (p.Thr1561=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 1742417	NM_000719.7(CACNA1C):c.4686G>A (p.Leu1562=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2733720	NM_000719.7(CACNA1C):c.4692C>A (p.Ala1564=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 1116294	NM_000719.7(CACNA1C):c.4692C>T (p.Ala1564=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 2725619	NM_000719.7(CACNA1C):c.4703C>T (p.Thr1568Met)	CACNA1C, CACNA1C-AS2 (T1596M +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 527071	NM_000719.7(CACNA1C):c.4704G>A (p.Thr1568=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 658373	NM_000719.7(CACNA1C):c.4705G>A (p.Ala1569Thr)	CACNA1C, CACNA1C-AS2 (A1566T +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2837088	NM_000719.7(CACNA1C):c.4708C>T (p.Leu1570=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2715917	NM_000719.7(CACNA1C):c.4723G>A (p.Glu1575Lys)	CACNA1C, CACNA1C-AS2 (E1564K +8 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 842097	NM_000719.7(CACNA1C):c.4726+3A>G	CACNA1C, CACNA1C-AS2	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2914512	NM_000719.7(CACNA1C):c.4726+6G>T	CACNA1C, CACNA1C-AS2	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 1462219	NM_000719.7(CACNA1C):c.4726+8C>T	CACNA1C-AS2, CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 308156	NM_000719.7(CACNA1C):c.4726+9G>A	CACNA1C, CACNA1C-AS2	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GBenign
Select item 722265	NM_000719.7(CACNA1C):c.4726+10C>T	CACNA1C-AS2, CACNA1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542375	NM_000719.7(CACNA1C):c.4726+12C>G	CACNA1C, CACNA1C-AS2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2201540	NM_000719.7(CACNA1C):c.4726+13G>T	CACNA1C, CACNA1C-AS2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 308157	NM_000719.7(CACNA1C):c.4726+13G>A	CACNA1C, CACNA1C-AS2	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GLikely benign
Select item 2139745	NM_000719.7(CACNA1C):c.4726+15G>A	CACNA1C, CACNA1C-AS2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 1939628	NM_000719.7(CACNA1C):c.4726+19A>G	CACNA1C, CACNA1C-AS2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 695147	NM_000719.7(CACNA1C):c.4726+73dup	CACNA1C, CACNA1C-AS2	Duplication (intron variant)	not provided +1 more	GBenign
Select item 695633	NM_000719.7(CACNA1C):c.4726+156G>A	CACNA1C, CACNA1C-AS2	Single nucleotide variant (intron variant)	Long QT syndrome	GBenign
Select item 1278232	NM_000719.7(CACNA1C):c.4726+258T>G	CACNA1C, CACNA1C-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669624	NM_000719.7(CACNA1C):c.4726+313dup	CACNA1C, CACNA1C-AS2	Duplication (intron variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 73