Full data view for gene CACNA1C-AS1

Information The variants shown are described using the NR_045725.1 transcript reference sequence.

178 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - n.23_37dup r.(?) - Unknown - likely benign g.2800291_2800305dup - CACNA1C(NM_000719.6):c.6338_6339insCGCGGGCTGTGTGCG (p.(Gly2115_Ala2119dup)) - CACNA1C_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.34C>T r.(?) - Unknown - benign g.2800290G>A g.2691124G>A CACNA1C(NM_199460.4):c.6591G>A (p.A2197=) - CACNA1C_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.34C>T r.(?) - Unknown - likely benign g.2800290G>A g.2691124G>A CACNA1C(NM_199460.4):c.6591G>A (p.A2197=) - CACNA1C_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.60C>T r.(?) - Unknown - likely benign g.2800264G>A - CACNA1C(NM_000719.6):c.6316G>A (p.(Asp2106Asn)) - CACNA1C_000369 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.74C>T r.(?) - Unknown - VUS g.2800250G>A g.2691084G>A CACNA1C(NM_199460.3):c.6551G>A (p.R2184K) - CACNA1C_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.89+15T>C r.(?) - Unknown - VUS g.2800220A>G g.2691054A>G CACNA1C(NM_000719.6):c.6272A>G (p.(Asn2091Ser)), CACNA1C(NM_001167623.2):c.6272A>G (p.N2091S), CACNA1C(NM_199460.3):c.6521A>G (p.N2174S), CACNA1C...) - CACNA1C_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.89+15T>C r.(?) - Unknown - likely benign g.2800220A>G g.2691054A>G CACNA1C(NM_000719.6):c.6272A>G (p.(Asn2091Ser)), CACNA1C(NM_001167623.2):c.6272A>G (p.N2091S), CACNA1C(NM_199460.3):c.6521A>G (p.N2174S), CACNA1C...) - CACNA1C_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.89+15T>C r.(?) - Unknown - likely benign g.2800220A>G g.2691054A>G CACNA1C(NM_000719.6):c.6272A>G (p.(Asn2091Ser)), CACNA1C(NM_001167623.2):c.6272A>G (p.N2091S), CACNA1C(NM_199460.3):c.6521A>G (p.N2174S), CACNA1C...) - CACNA1C_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.89+15T>C r.(?) - Unknown - likely benign g.2800220A>G g.2691054A>G CACNA1C(NM_000719.6):c.6272A>G (p.(Asn2091Ser)), CACNA1C(NM_001167623.2):c.6272A>G (p.N2091S), CACNA1C(NM_199460.3):c.6521A>G (p.N2174S), CACNA1C...) - CACNA1C_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.89+15T>C r.(?) - Unknown - likely benign g.2800220A>G - CACNA1C(NM_000719.6):c.6272A>G (p.(Asn2091Ser)), CACNA1C(NM_001167623.2):c.6272A>G (p.N2091S), CACNA1C(NM_199460.3):c.6521A>G (p.N2174S), CACNA1C...) - CACNA1C_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.89+15T>C r.(?) - Unknown - likely benign g.2800220A>G - CACNA1C(NM_000719.6):c.6272A>G (p.(Asn2091Ser)), CACNA1C(NM_001167623.2):c.6272A>G (p.N2091S), CACNA1C(NM_199460.3):c.6521A>G (p.N2174S), CACNA1C...) - CACNA1C_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.89+19G>C r.(?) - Unknown - likely benign g.2800216C>G g.2691050C>G CACNA1C(NM_000719.6):c.6268C>G (p.(Pro2090Ala)), CACNA1C(NM_199460.4):c.6517C>G (p.P2173A) - CACNA1C_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.89+19G>C r.(?) - Unknown - VUS g.2800216C>G - CACNA1C(NM_000719.6):c.6268C>G (p.(Pro2090Ala)), CACNA1C(NM_199460.4):c.6517C>G (p.P2173A) - CACNA1C_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.89+19G>C r.(?) - Unknown - likely benign g.2800216C>G - CACNA1C(NM_000719.6):c.6268C>G (p.(Pro2090Ala)), CACNA1C(NM_199460.4):c.6517C>G (p.P2173A) - CACNA1C_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.90-42T>C r.(?) - Unknown - VUS g.2800187A>G - CACNA1C(NM_199460.4):c.6488A>G (p.N2163S) - CACNA1C_000368 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.94C>T r.(?) - Unknown - likely benign g.2800141G>A - CACNA1C(NM_000719.6):c.6193G>A (p.(Asp2065Asn)) - CACNA1C_000367 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+1349C>T r.(?) - Unknown - benign g.2797957G>A g.2688791G>A CACNA1C(NM_199460.4):c.6366+12G>A - CACNA1C_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+1362G>C r.(?) - Unknown - VUS g.2797944C>G g.2688778C>G CACNA1C(NM_000719.7):c.6116C>G (p.A2039G), CACNA1C(NM_199460.3):c.6365C>G (p.A2122G), CACNA1C(NM_199460.4):c.6365C>G (p.A2122G) - CACNA1C_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+1362G>C r.(?) - Unknown - likely benign g.2797944C>G g.2688778C>G CACNA1C(NM_000719.7):c.6116C>G (p.A2039G), CACNA1C(NM_199460.3):c.6365C>G (p.A2122G), CACNA1C(NM_199460.4):c.6365C>G (p.A2122G) - CACNA1C_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+1362G>C r.(?) - Unknown - VUS g.2797944C>G - CACNA1C(NM_000719.7):c.6116C>G (p.A2039G), CACNA1C(NM_199460.3):c.6365C>G (p.A2122G), CACNA1C(NM_199460.4):c.6365C>G (p.A2122G) - CACNA1C_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+1362G>C r.(?) - Unknown - VUS g.2797944C>G - CACNA1C(NM_000719.7):c.6116C>G (p.A2039G), CACNA1C(NM_199460.3):c.6365C>G (p.A2122G), CACNA1C(NM_199460.4):c.6365C>G (p.A2122G) - CACNA1C_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+1382A>G r.(?) - Unknown - VUS g.2797924T>C - CACNA1C(NM_001167623.2):c.6096T>C (p.S2032=) - CACNA1C_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+1422G>C r.(?) - Unknown - benign g.2797884C>G g.2688718C>G CACNA1C-AS1(NR_045725.1):n.333+1422G>C - CACNA1C_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+1438C>T r.(?) - Unknown - likely benign g.2797868G>A g.2688702G>A CACNA1C(NM_000719.7):c.6040G>A (p.V2014I), CACNA1C(NM_001167623.2):c.6040G>A (p.V2014I), CACNA1C(NM_199460.3):c.6289G>A (p.V2097I) - CACNA1C_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+1438C>T r.(?) - Unknown - VUS g.2797868G>A g.2688702G>A CACNA1C(NM_000719.7):c.6040G>A (p.V2014I), CACNA1C(NM_001167623.2):c.6040G>A (p.V2014I), CACNA1C(NM_199460.3):c.6289G>A (p.V2097I) - CACNA1C_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+1438C>T r.(?) - Parent #1 - VUS g.2797868G>A g.2688702G>A - - CACNA1C_000217 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199473660 Germline - 3/2752 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - n.333+1438C>T r.(?) - Unknown - likely benign g.2797868G>A - CACNA1C(NM_000719.7):c.6040G>A (p.V2014I), CACNA1C(NM_001167623.2):c.6040G>A (p.V2014I), CACNA1C(NM_199460.3):c.6289G>A (p.V2097I) - CACNA1C_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+1438C>T r.(?) - Unknown - VUS g.2797868G>A - CACNA1C(NM_000719.7):c.6040G>A (p.V2014I), CACNA1C(NM_001167623.2):c.6040G>A (p.V2014I), CACNA1C(NM_199460.3):c.6289G>A (p.V2097I) - CACNA1C_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+1447C>T r.(?) - Parent #1 - VUS g.2797859G>A g.2688693G>A - - CACNA1C_000252 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs193922615 Germline - 2/2768 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - n.333+1453G>A r.(?) - Unknown - VUS g.2797853C>T - CACNA1C(NM_000719.6):c.6025C>T (p.(Arg2009Trp)) - CACNA1C_000366 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+1460G>T r.(?) - Unknown - VUS g.2797846C>A - CACNA1C(NM_000719.6):c.6018C>A (p.(Ser2006Arg)), CACNA1C(NM_199460.4):c.6267C>A (p.S2089R) - CACNA1C_000333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+1460G>T r.(?) - Unknown - likely benign g.2797846C>A - CACNA1C(NM_000719.6):c.6018C>A (p.(Ser2006Arg)), CACNA1C(NM_199460.4):c.6267C>A (p.S2089R) - CACNA1C_000333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+1477C>T r.(?) - Unknown - VUS g.2797829G>A - CACNA1C(NM_001167623.2):c.6001G>A (p.G2001S), CACNA1C(NM_199460.4):c.6250G>A (p.G2084S) - CACNA1C_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+1477C>T r.(?) - Unknown - VUS g.2797829G>A - CACNA1C(NM_001167623.2):c.6001G>A (p.G2001S), CACNA1C(NM_199460.4):c.6250G>A (p.G2084S) - CACNA1C_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+1503C>A r.(?) - Unknown - likely benign g.2797803G>T - - - CACNA1C_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+1509A>G r.(?) - Unknown - likely benign g.2797797T>C - - - CACNA1C_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+1560C>T r.(?) - Unknown - likely benign g.2797746G>A g.2688580G>A CACNA1C(NM_199460.3):c.6167G>A (p.R2056Q), CACNA1C(NM_199460.4):c.6167G>A (p.R2056Q) - CACNA1C_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+1560C>T r.(?) - Unknown - likely benign g.2797746G>A g.2688580G>A CACNA1C(NM_199460.3):c.6167G>A (p.R2056Q), CACNA1C(NM_199460.4):c.6167G>A (p.R2056Q) - CACNA1C_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+1560C>T r.(?) - Unknown - likely benign g.2797746G>A g.2688580G>A CACNA1C(NM_199460.3):c.6167G>A (p.R2056Q), CACNA1C(NM_199460.4):c.6167G>A (p.R2056Q) - CACNA1C_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+1560C>T r.(?) - Unknown - likely benign g.2797746G>A g.2688580G>A CACNA1C(NM_199460.3):c.6167G>A (p.R2056Q), CACNA1C(NM_199460.4):c.6167G>A (p.R2056Q) - CACNA1C_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+1561G>T r.(?) - Unknown - likely benign g.2797745C>A g.2688579C>A - - CACNA1C_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+1584G>A r.(?) - Unknown - VUS g.2797722C>T g.2688556C>T CACNA1C(NM_199460.4):c.6143C>T (p.P2048L) - CACNA1C_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+1613T>G r.(?) - Unknown - benign g.2797693A>C g.2688527A>C - - CACNA1C_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+1618T>G r.(?) - Unknown - benign g.2797688A>C g.2688522A>C - - CACNA1C_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+1651G>A r.(?) - Unknown - VUS g.2797655C>T - CACNA1C(NM_000719.7):c.5827C>T (p.(His1943Tyr)) - CACNA1C_000398 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+1702A>G r.(?) - Unknown - likely benign g.2797604T>C - CACNA1C(NM_001167623.2):c.5785-9T>C - CACNA1C_000319 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+1708G>T r.(?) - Unknown - benign g.2797598C>A - CACNA1C(NM_001167623.2):c.5785-15C>A, CACNA1C(NM_199460.4):c.6034-15C>A - CACNA1C_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+1708G>T r.(?) - Unknown - likely benign g.2797598C>A - CACNA1C(NM_001167623.2):c.5785-15C>A, CACNA1C(NM_199460.4):c.6034-15C>A - CACNA1C_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+3557C>T r.(?) - Unknown - likely benign g.2795749G>A - CACNA1C(NM_000719.7):c.5784+314G>A - CACNA1C_000346 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+3894G>A r.(?) - Unknown - likely benign g.2795412C>T g.2686246C>T - - CACNA1C_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+3907C>G r.(?) - Unknown - VUS g.2795399G>C - CACNA1C(NM_000719.7):c.5748G>C (p.Q1916H), CACNA1C(NM_199460.4):c.5997G>C (p.Q1999H) - CACNA1C_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+3907C>G r.(?) - Unknown - VUS g.2795399G>C - CACNA1C(NM_000719.7):c.5748G>C (p.Q1916H), CACNA1C(NM_199460.4):c.5997G>C (p.Q1999H) - CACNA1C_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+3918C>A r.(?) - Unknown - VUS g.2795388G>T g.2686222G>T CACNA1C(NM_199460.4):c.5986G>T (p.D1996Y) - CACNA1C_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+3918C>T r.(?) - Unknown - VUS g.2795388G>A g.2686222G>A CACNA1C(NM_199460.4):c.5986G>A (p.D1996N) - CACNA1C_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+3924C>G r.(?) - Unknown - VUS g.2795382G>C g.2686216G>C CACNA1C(NM_000719.6):c.5731G>C (p.(Gly1911Arg)), CACNA1C(NM_199460.4):c.5980G>C (p.G1994R) - CACNA1C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+3924C>G r.(?) - Unknown - VUS g.2795382G>C - CACNA1C(NM_000719.6):c.5731G>C (p.(Gly1911Arg)), CACNA1C(NM_199460.4):c.5980G>C (p.G1994R) - CACNA1C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - n.333+3936G>A r.(?) - Unknown - likely pathogenic g.2795370C>T - CACNA1C(NM_001167623.2):c.5719C>T (p.Q1907*) - CACNA1C_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4282C>T r.(?) - Unknown - benign g.2795024G>A g.2685858G>A CACNA1C(NM_199460.4):c.5929+16G>A - CACNA1C_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4283G>A r.(?) - Unknown - benign g.2795023C>T g.2685857C>T CACNA1C(NM_000719.7):c.5680+15C>T, CACNA1C(NM_199460.4):c.5929+15C>T - CACNA1C_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4283G>A r.(?) - Unknown - benign g.2795023C>T g.2685857C>T CACNA1C(NM_000719.7):c.5680+15C>T, CACNA1C(NM_199460.4):c.5929+15C>T - CACNA1C_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4283G>A r.(?) - Unknown - benign g.2795023C>T - CACNA1C(NM_000719.7):c.5680+15C>T, CACNA1C(NM_199460.4):c.5929+15C>T - CACNA1C_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4287G>A r.(?) - Unknown - benign g.2795019C>T g.2685853C>T CACNA1C(NM_000719.7):c.5680+11C>T, CACNA1C(NM_199460.3):c.5929+11C>T, CACNA1C(NM_199460.4):c.5929+11C>T, CACNA1C-AS1(NR_045725.1):n.333+4287G>A - CACNA1C_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4287G>A r.(?) - Unknown - benign g.2795019C>T g.2685853C>T CACNA1C(NM_000719.7):c.5680+11C>T, CACNA1C(NM_199460.3):c.5929+11C>T, CACNA1C(NM_199460.4):c.5929+11C>T, CACNA1C-AS1(NR_045725.1):n.333+4287G>A - CACNA1C_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4287G>A r.(?) - Unknown - benign g.2795019C>T g.2685853C>T CACNA1C(NM_000719.7):c.5680+11C>T, CACNA1C(NM_199460.3):c.5929+11C>T, CACNA1C(NM_199460.4):c.5929+11C>T, CACNA1C-AS1(NR_045725.1):n.333+4287G>A - CACNA1C_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+4287G>A r.(?) - Unknown - likely benign g.2795019C>T - CACNA1C(NM_000719.7):c.5680+11C>T, CACNA1C(NM_199460.3):c.5929+11C>T, CACNA1C(NM_199460.4):c.5929+11C>T, CACNA1C-AS1(NR_045725.1):n.333+4287G>A - CACNA1C_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+4307C>G r.(?) - Unknown - likely benign g.2794999G>C g.2685833G>C CACNA1C(NM_199460.3):c.5920G>C (p.A1974P) - CACNA1C_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4313G>A r.(?) - Unknown - benign g.2794993C>T g.2685827C>T CACNA1C(NM_199460.4):c.5914C>T (p.R1972C) - CACNA1C_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4329C>T r.(?) - Unknown - benign g.2794977G>A g.2685811G>A CACNA1C(NM_000719.7):c.5649G>A (p.P1883=), CACNA1C(NM_199460.4):c.5898G>A (p.P1966=), CACNA1C-AS1(NR_045725.1):n.333+4329C>T - CACNA1C_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4329C>T r.(?) - Unknown - benign g.2794977G>A g.2685811G>A CACNA1C(NM_000719.7):c.5649G>A (p.P1883=), CACNA1C(NM_199460.4):c.5898G>A (p.P1966=), CACNA1C-AS1(NR_045725.1):n.333+4329C>T - CACNA1C_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4329C>T r.(?) - Unknown - benign g.2794977G>A - CACNA1C(NM_000719.7):c.5649G>A (p.P1883=), CACNA1C(NM_199460.4):c.5898G>A (p.P1966=), CACNA1C-AS1(NR_045725.1):n.333+4329C>T - CACNA1C_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4341G>T r.(?) - Unknown - benign g.2794965C>A g.2685799C>A CACNA1C(NM_199460.4):c.5886C>A (p.I1962=) - CACNA1C_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+4341G>T r.(?) - Unknown - likely benign g.2794965C>A g.2685799C>A CACNA1C(NM_199460.4):c.5886C>A (p.I1962=) - CACNA1C_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4369G>A r.(?) - Unknown - benign g.2794937C>T g.2685771C>T CACNA1C(NM_199460.4):c.5858C>T (p.T1953M), CACNA1C-AS1(NR_045725.1):n.333+4369G>A - CACNA1C_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+4369G>A r.(?) - Unknown - likely benign g.2794937C>T g.2685771C>T CACNA1C(NM_199460.4):c.5858C>T (p.T1953M), CACNA1C-AS1(NR_045725.1):n.333+4369G>A - CACNA1C_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4369G>A r.(?) - Unknown - benign g.2794937C>T g.2685771C>T CACNA1C(NM_199460.4):c.5858C>T (p.T1953M), CACNA1C-AS1(NR_045725.1):n.333+4369G>A - CACNA1C_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4374T>C r.(?) - Unknown - benign g.2794932A>G g.2685766A>G CACNA1C(NM_199460.4):c.5853A>G (p.Q1951=) - CACNA1C_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.333+4378C>T r.(?) - Unknown - VUS g.2794928G>A - CACNA1C(NM_000719.6):c.5600G>A (p.(Arg1867Gln)) - CACNA1C_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4385C>T r.(?) - Unknown - benign g.2794921G>A g.2685755G>A CACNA1C(NM_000719.6):c.5593G>A (p.(Glu1865Lys)), CACNA1C(NM_199460.3):c.5842G>A (p.E1948K), CACNA1C(NM_199460.4):c.5842G>A (p.E1948K) - CACNA1C_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.333+4385C>T r.(?) - Unknown - benign g.2794921G>A g.2685755G>A CACNA1C(NM_000719.6):c.5593G>A (p.(Glu1865Lys)), CACNA1C(NM_199460.3):c.5842G>A (p.E1948K), CACNA1C(NM_199460.4):c.5842G>A (p.E1948K) - CACNA1C_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.333+4385C>T r.(?) - Unknown - likely benign g.2794921G>A g.2685755G>A CACNA1C(NM_000719.6):c.5593G>A (p.(Glu1865Lys)), CACNA1C(NM_199460.3):c.5842G>A (p.E1948K), CACNA1C(NM_199460.4):c.5842G>A (p.E1948K) - CACNA1C_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.334-4955G>A r.(?) - Unknown - likely benign g.2792018C>T - CACNA1C(NM_000719.7):c.5573+174C>T - CACNA1C_000397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.334-4758C>T r.(?) - Unknown - benign g.2791821G>A g.2682655G>A CACNA1C(NM_001167623.2):c.5550G>A (p.E1850=), CACNA1C(NM_199460.4):c.5799G>A (p.E1933=) - CACNA1C_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.334-4758C>T r.(?) - Unknown - likely benign g.2791821G>A g.2682655G>A CACNA1C(NM_001167623.2):c.5550G>A (p.E1850=), CACNA1C(NM_199460.4):c.5799G>A (p.E1933=) - CACNA1C_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.334-4758C>T r.(?) - Unknown - likely benign g.2791821G>A - CACNA1C(NM_001167623.2):c.5550G>A (p.E1850=), CACNA1C(NM_199460.4):c.5799G>A (p.E1933=) - CACNA1C_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.334-4737A>G r.(?) - Unknown - benign g.2791800T>C g.2682634T>C CACNA1C(NM_199460.4):c.5778T>C (p.H1926=) - CACNA1C_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.334-4718T>C r.(?) - Unknown - VUS g.2791781A>G g.2682615A>G CACNA1C(NM_001167623.2):c.5510A>G (p.Y1837C) - CACNA1C_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.334-4693_334-4691del r.(?) - Unknown - VUS g.2791759_2791761del g.2682593_2682595del CACNA1C(NM_001167623.2):c.5488_5490delGAG (p.E1830del) - CACNA1C_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.334-4686C>T r.(?) - Unknown - likely benign g.2791749G>A - CACNA1C(NM_001167623.2):c.5478G>A (p.A1826=) - CACNA1C_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.334-4686C>T r.(?) - Unknown - likely benign g.2791749G>A - CACNA1C(NM_001167623.2):c.5478G>A (p.A1826=) - CACNA1C_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.334-4664C>T r.(?) - Unknown - likely benign g.2791727G>A g.2682561G>A - - CACNA1C_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.334-4659G>A r.(?) - Unknown - benign g.2791722C>T g.2682556C>T CACNA1C(NM_199460.3):c.5700C>T (p.H1900=), CACNA1C(NM_199460.4):c.5700C>T (p.H1900=) - CACNA1C_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.334-4659G>A r.(?) - Unknown - likely benign g.2791722C>T - CACNA1C(NM_199460.3):c.5700C>T (p.H1900=), CACNA1C(NM_199460.4):c.5700C>T (p.H1900=) - CACNA1C_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.334-4483T>C r.(?) - Unknown - likely benign g.2791546A>G - - - CACNA1C_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.334-4154G>C r.(?) - Unknown - likely benign g.2791217C>G g.2682051C>G CACNA1C(NM_199460.4):c.5690C>G (p.S1897C) - CACNA1C_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.334-4142T>C r.(?) - Unknown - benign g.2791205A>G - CACNA1C(NM_199460.4):c.5678A>G (p.K1893R), CACNA1C-AS1(NR_045725.1):n.334-4142T>C - CACNA1C_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.334-4142T>C r.(?) - Unknown - benign g.2791205A>G - CACNA1C(NM_199460.4):c.5678A>G (p.K1893R), CACNA1C-AS1(NR_045725.1):n.334-4142T>C - CACNA1C_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.334-4069T>C r.(?) - Unknown - benign g.2791132A>G g.2681966A>G CACNA1C(NM_199460.4):c.5605A>G (p.M1869V), CACNA1C-AS1(NR_045725.1):n.334-4069T>C - CACNA1C_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.334-4069T>C r.(?) - Unknown - benign g.2791132A>G g.2681966A>G CACNA1C(NM_199460.4):c.5605A>G (p.M1869V), CACNA1C-AS1(NR_045725.1):n.334-4069T>C - CACNA1C_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.334-4067G>A r.(?) - Unknown - benign g.2791130C>T g.2681964C>T CACNA1C(NM_199460.4):c.5603C>T (p.P1868L), CACNA1C-AS1(NR_045725.1):n.334-4067G>A - CACNA1C_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.334-4067G>A r.(?) - Unknown - benign g.2791130C>T g.2681964C>T CACNA1C(NM_199460.4):c.5603C>T (p.P1868L), CACNA1C-AS1(NR_045725.1):n.334-4067G>A - CACNA1C_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.