ClinVar for MedGen (Select 395633) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 124

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664836	NM_000719.7(CACNA1C):c.1276G>A (p.Glu426Lys)	CACNA1C (E423K +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3	GUncertain significance
Select item 2505537	NM_000719.7(CACNA1C):c.2181G>T (p.Met727Ile)	CACNA1C (M724I +1 more)	Single nucleotide variant (missense variant)	Long qt syndrome 8 +1 more	GUncertain significance
Select item 1803879	Single allele	CACNA1C, CACNA1C-AS1 +2 more	Duplication	Brugada syndrome 3 +1 more	GUncertain significance
Select item 1803156	NM_000719.7(CACNA1C):c.2409G>T (p.Lys803Asn)	CACNA1C (K800N +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3	GUncertain significance
Select item 1701756	NM_000719.7(CACNA1C):c.4141-605G>A	CACNA1C	Single nucleotide variant (intron variant)	Timothy syndrome +2 more	GUncertain significance
Select item 1677494	NM_000719.7(CACNA1C):c.4828+1G>A	CACNA1C	Single nucleotide variant (splice donor variant)	Long QT syndrome +5 more	GUncertain significance
Select item 1677378	NM_000719.7(CACNA1C):c.536T>C (p.Ile179Thr)	CACNA1C (I179T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 1578634	NM_000719.7(CACNA1C):c.6282C>G (p.Leu2094=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GLikely benign
Select item 1525632	NM_000719.7(CACNA1C):c.5987C>T (p.Ala1996Val)	CACNA1C, CACNA1C-AS1 (A1985V +13 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +3 more	GUncertain significance
Select item 1510157	NM_000719.7(CACNA1C):c.4784G>A (p.Arg1595Gln)	CACNA1C (R1595Q +10 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GUncertain significance
Select item 1483568	NM_000719.7(CACNA1C):c.4558C>G (p.Leu1520Val)	CACNA1C (L1509V +8 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 1439077	NM_000719.7(CACNA1C):c.13A>C (p.Asn5His)	CACNA1C (N5H)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GUncertain significance
Select item 1432134	NM_000719.7(CACNA1C):c.5852C>G (p.Pro1951Arg)	CACNA1C, CACNA1C-AS1 (P1959R +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1408901	NM_000719.7(CACNA1C):c.2429C>T (p.Thr810Met)	CACNA1C (T807M +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +4 more	GUncertain significance
Select item 1355444	NM_000719.7(CACNA1C):c.4381A>G (p.Met1461Val)	CACNA1C (M1509V +8 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GUncertain significance
Select item 1302284	NM_000719.7(CACNA1C):c.1381C>G (p.Pro461Ala)	CACNA1C (P458A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1301544	NM_000719.7(CACNA1C):c.2854-11C>G	CACNA1C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1254770	NM_000719.7(CACNA1C):c.3577G>A (p.Ala1193Thr)	CACNA1C (A1190T +2 more)	Single nucleotide variant (missense variant)	Timothy syndrome +3 more	GUncertain significance
Select item 1201015	NM_000719.7(CACNA1C):c.2636C>T (p.Ala879Val)	CACNA1C (A876V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	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)	Long QT syndrome +4 more	GLikely benign
Select item 1154246	NM_000719.7(CACNA1C):c.285C>T (p.Thr95=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GLikely benign
Select item 1053141	NM_000719.7(CACNA1C):c.1026C>T (p.Gly342=)	CACNA1C	Single nucleotide variant (synonymous variant)	Timothy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1045556	NM_000719.7(CACNA1C):c.6018C>A (p.Ser2006Arg)	CACNA1C, CACNA1C-AS1 (S2023R +13 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +3 more	GUncertain significance
Select item 1030883	NM_000719.7(CACNA1C):c.694G>C (p.Asp232His)	CACNA1C (D232H)	Single nucleotide variant (missense variant)	CACNA1C-related disorder +1 more	GUncertain significance
Select item 1021032	NM_000719.7(CACNA1C):c.941C>T (p.Ser314Phe)	CACNA1C (S311F +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 1017880	NM_000719.7(CACNA1C):c.3097G>A (p.Val1033Met)	CACNA1C (V1030M +2 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GUncertain significance
Select item 1015055	NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr)	CACNA1C (A28T)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1013997	NM_000719.7(CACNA1C):c.5680G>A (p.Gly1894Ser)	CACNA1C, CACNA1C-AS1 (G1883S +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 1010231	NM_000719.7(CACNA1C):c.1786G>A (p.Val596Met)	CACNA1C (V593M +1 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GUncertain significance
Select item 1003227	NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser)	CACNA1C, CACNA1C-AS1 (G2020S +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 992575	NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser)	CACNA1C (F1466S +8 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +2 more	GUncertain significance
Select item 973262	NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala)	CACNA1C (V241A)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +1 more	GLikely pathogenic
Select item 970605	NM_000719.7(CACNA1C):c.5894C>T (p.Pro1965Leu)	CACNA1C, CACNA1C-AS1 (P1962L +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 856436	NM_000719.7(CACNA1C):c.200G>A (p.Ser67Asn)	CACNA1C (S67N)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 847588	NM_000719.7(CACNA1C):c.5900A>G (p.Gln1967Arg)	CACNA1C, CACNA1C-AS1 (Q1956R +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 843126	NM_000719.7(CACNA1C):c.5784+4G>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	Brugada syndrome 3 +3 more	GUncertain significance
Select item 698285	NM_000719.7(CACNA1C):c.102G>A (p.Ala34=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GLikely benign
Select item 660329	NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala)	CACNA1C, CACNA1C-AS1 (E1856A +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GUncertain significance
Select item 646829	NM_000719.7(CACNA1C):c.1429G>A (p.Glu477Lys)	CACNA1C (E477K +1 more)	Single nucleotide variant (missense variant)	Timothy syndrome +3 more	GUncertain significance
Select item 640570	NM_000719.7(CACNA1C):c.484G>A (p.Val162Met)	CACNA1C (V162M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 638926	NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser)	CACNA1C, CACNA1C-AS1 (I1911S +13 more)	Single nucleotide variant (missense variant)	Timothy syndrome +3 more	GUncertain significance
Select item 580490	NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del)	CACNA1C (E802del +1 more)	Microsatellite (inframe_deletion)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 578454	NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile)	CACNA1C (S22I)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +4 more	GConflicting classifications of pathogenicity
Select item 575699	NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser)	CACNA1C, CACNA1C-AS1 (G2001S +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 574016	NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg)	CACNA1C (K1054R +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +4 more	GUncertain significance
Select item 572803	NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala)	CACNA1C (T942A +1 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 3 +4 more	GConflicting classifications of pathogenicity
Select item 570822	NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser)	CACNA1C (N829S +1 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 526999	NM_000719.7(CACNA1C):c.3717+4A>G	CACNA1C	Single nucleotide variant (intron variant)	Long qt syndrome 8 +4 more	GUncertain significance
Select item 526989	NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val)	CACNA1C-AS1, CACNA1C (A1717V +10 more)	Single nucleotide variant (missense variant)	Long qt syndrome 8 +5 more	GConflicting classifications of pathogenicity
Select item 526961	NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln)	CACNA1C, CACNA1C-AS1 (R1943Q +13 more)	Single nucleotide variant (missense variant)	Long qt syndrome 8 +4 more	GConflicting classifications of pathogenicity
Select item 526952	NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly)	CACNA1C, CACNA1C-AS1 (E1792G +10 more)	Single nucleotide variant (missense variant)	Long qt syndrome 8 +5 more	GConflicting classifications of pathogenicity
Select item 526905	NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)	CACNA1C, CACNA1C-AS1 (G1700S +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 519274	NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met)	CACNA1C (V585M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 496072	NM_000719.7(CACNA1C):c.2854-4G>A	CACNA1C	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 457002	NM_000719.7(CACNA1C):c.898A>G (p.Asn300Asp)	CACNA1C (N300D)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 456998	NM_000719.7(CACNA1C):c.6334G>C (p.Glu2112Gln)	CACNA1C, CACNA1C-AS1 (E2112Q +13 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +3 more	GUncertain significance
Select item 456990	NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=)	CACNA1C-AS1, CACNA1C	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 456989	NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val)	CACNA1C, CACNA1C-AS1 (G2052V +13 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +4 more	GConflicting classifications of pathogenicity
Select item 456980	NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln)	CACNA1C, CACNA1C-AS1 (R1854Q +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 456962	NM_000719.7(CACNA1C):c.3281G>A (p.Ser1094Asn)	CACNA1C (S1114N +2 more)	Single nucleotide variant (missense variant)	Long qt syndrome 8 +3 more	GUncertain significance
Select item 420309	NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser)	CACNA1C (P784S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 418848	NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met)	CACNA1C (T320M +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 416877	NM_000719.7(CACNA1C):c.5277G>A (p.Ser1759=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 416867	NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 416863	NM_000719.7(CACNA1C):c.3246C>T (p.Asp1082=)	CACNA1C	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 416854	NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GLikely benign
Select item 411737	NM_000719.7(CACNA1C):c.5411T>C (p.Val1804Ala)	CACNA1C, CACNA1C-AS1 (V1804A +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 411732	NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro)	CACNA1C, CACNA1C-AS1 (A2022P +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 411730	NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del)	CACNA1C, CACNA1C-AS1 (E1874del +13 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 411719	NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile)	CACNA1C (V1111I +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +7 more	GUncertain significance
Select item 411718	NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp)	CACNA1C, CACNA1C-AS1 (R2047W +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 402467	NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)	CACNA1C, CACNA1C-AS1 (R1906Q +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 392350	NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr)	CACNA1C (A519T +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 381482	NM_000719.7(CACNA1C):c.512C>T (p.Thr171Met)	CACNA1C (T171M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 381481	NM_000719.7(CACNA1C):c.5444+719G>A	CACNA1C, CACNA1C-AS1 (C1855Y)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 3 +4 more	GBenign/Likely benign
Select item 377616	NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +5 more	GBenign/Likely benign
Select item 308145	NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=)	CACNA1C	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 308139	NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg)	CACNA1C (G813R +1 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 308133	NM_000719.7(CACNA1C):c.1520G>A (p.Arg507His)	CACNA1C (R507H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 279723	NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro)	CACNA1C, CACNA1C-AS1 (A1939P +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 238176	NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile)	CACNA1C, CACNA1C-AS1 (T1999I +13 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 238170	NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=)	CACNA1C	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 234984	NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)	CACNA1C (V1227I +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 197560	NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)	CACNA1C, CACNA1C-AS1 (K2054R +13 more)	Single nucleotide variant (non-coding transcript variant +1 more)	CACNA1C-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 195932	NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)	CACNA1C	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 194342	NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn)	CACNA1C (D690N +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GUncertain significance
Select item 191427	NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)	CACNA1C-AS1, CACNA1C (G1911R +13 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 190711	NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs)	CACNA1C (T6fs)	Deletion (frameshift variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 190710	NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)	CACNA1C (M1T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 190695	NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs)	CACNA1C, CACNA1C-AS1 (E2100fs +13 more)	Duplication (non-coding transcript variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 190694	NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del)	CACNA1C, CACNA1C-AS1 (E1678del +10 more)	Microsatellite (non-coding transcript variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 190688	NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys)	CACNA1C-AS1, CACNA1C (R1780C +10 more)	Single nucleotide variant (missense variant)	Timothy syndrome +6 more	GConflicting classifications of pathogenicity
Select item 190686	NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val)	CACNA1C, CACNA1C-AS1 (A1733V +10 more)	Single nucleotide variant (missense variant)	Timothy syndrome +5 more	GConflicting classifications of pathogenicity
Select item 190683	NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met)	CACNA1C (T79M)	Single nucleotide variant (missense variant)	Timothy syndrome +5 more	GConflicting classifications of pathogenicity
Select item 190679	NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)	CACNA1C (N33S)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 190676	NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg)	CACNA1C-AS1, CACNA1C (G1662R +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +6 more	GUncertain significance
Select item 190673	NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn)	CACNA1C (K1591N +10 more)	Single nucleotide variant (missense variant)	Timothy syndrome +5 more	GUncertain significance
Select item 190668	NM_000719.7(CACNA1C):c.3946-44C>T	CACNA1C (P1323L)	Single nucleotide variant (missense variant +1 more)	Timothy syndrome +3 more	GUncertain significance
Select item 190644	NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met)	CACNA1C (T568M +1 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GUncertain significance

<< First< Prev

Page of 2