Full data view for gene CACNA1C

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

401 entries on 5 pages. Showing entries 1 - 100.
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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     
-?/. - c.36G>A r.(?) p.(Glu12=) Unknown - likely benign g.2162764G>A g.2053598G>A - - CACNA1C_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.49+11028A>G r.(?) p.(=) Unknown - likely benign g.2173805A>G g.2064639A>G - - CACNA1C_000007 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.82G>A r.(?) p.(Ala28Thr) Unknown - VUS g.2224422G>A g.2115256G>A CACNA1C(NM_001167623.2):c.82G>A (p.A28T) - CACNA1C_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.101C>T r.(?) p.(Ala34Val) Unknown - likely benign g.2224441C>T g.2115275C>T CACNA1C(NM_199460.3):c.101C>T (p.A34V) - CACNA1C_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.109G>A r.(?) p.(Gly37Arg) Unknown - benign g.2224449G>A g.2115283G>A CACNA1C(NM_199460.3):c.109G>A (p.G37R) - CACNA1C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.109G>A r.(?) p.(Gly37Arg) Unknown - benign g.2224449G>A g.2115283G>A CACNA1C(NM_199460.3):c.109G>A (p.G37R) - CACNA1C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.109G>A r.(?) p.(Gly37Arg) Unknown - benign g.2224449G>A g.2115283G>A CACNA1C(NM_199460.3):c.109G>A (p.G37R) - CACNA1C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.118C>G r.(?) p.(Pro40Ala) Unknown - likely benign g.2224458C>G g.2115292C>G CACNA1C(NM_199460.3):c.118C>G (p.P40A) - CACNA1C_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.131C>A r.(?) p.(Pro44His) Unknown - VUS g.2224471C>A - - - CACNA1C_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.169G>A r.(?) p.(Asp57Asn) Parent #1 - likely pathogenic g.2224509G>A g.2115343G>A - - CACNA1C_000251 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs773528195 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.171C>T r.(?) p.(Asp57=) Unknown - benign g.2224511C>T g.2115345C>T CACNA1C(NM_199460.3):c.171C>T (p.D57=) - CACNA1C_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.171C>T r.(?) p.(Asp57=) Unknown - benign g.2224511C>T g.2115345C>T CACNA1C(NM_199460.3):c.171C>T (p.D57=) - CACNA1C_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202G>A r.(?) p.(Ala68Thr) Unknown - likely benign g.2224542G>A - CACNA1C(NM_001167623.2):c.202G>A (p.A68T), CACNA1C(NM_199460.3):c.202G>A (p.A68T) - CACNA1C_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202G>A r.(?) p.(Ala68Thr) Unknown - likely benign g.2224542G>A - CACNA1C(NM_001167623.2):c.202G>A (p.A68T), CACNA1C(NM_199460.3):c.202G>A (p.A68T) - CACNA1C_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206G>A r.(?) p.(Gly69Asp) Unknown - VUS g.2224546G>A g.2115380G>A - - CACNA1C_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213G>A r.(?) p.(Ala71=) Unknown - benign g.2224553G>A g.2115387G>A CACNA1C(NM_199460.3):c.213G>A (p.A71=) - CACNA1C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.266C>T r.(?) p.(Pro89Leu) Unknown - likely benign g.2224606C>T g.2115440C>T - - CACNA1C_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.275A>G r.(?) p.(Gln92Arg) Unknown - likely benign g.2224615A>G g.2115449A>G CACNA1C(NM_199460.3):c.275A>G (p.Q92R) - CACNA1C_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.300G>A r.(?) p.(Pro100=) Unknown - likely benign g.2224640G>A g.2115474G>A CACNA1C(NM_199460.3):c.300G>A (p.P100=) - CACNA1C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.371+17G>A r.(=) p.(=) Unknown - benign g.2224728G>A - CACNA1C(NM_001167623.2):c.371+17G>A - CACNA1C_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.372-15G>A r.(=) p.(=) Unknown - benign g.2229476G>A g.2120310G>A CACNA1C(NM_199460.3):c.372-15G>A - CACNA1C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.372-15G>A r.(=) p.(=) Unknown - benign g.2229476G>A g.2120310G>A CACNA1C(NM_199460.3):c.372-15G>A - CACNA1C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.372-15G>A r.(=) p.(=) Unknown - benign g.2229476G>A g.2120310G>A CACNA1C(NM_199460.3):c.372-15G>A - CACNA1C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.372-10C>T r.(=) p.(=) Unknown - benign g.2229481C>T g.2120315C>T CACNA1C(NM_199460.3):c.372-10C>T - CACNA1C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.459C>T r.(?) p.(Asn153=) Unknown - likely benign g.2229578C>T - - - CACNA1C_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.467A>G r.(?) p.(Asn156Ser) Unknown - VUS g.2229586A>G g.2120420A>G CACNA1C(NM_199460.4):c.467A>G (p.N156S) - CACNA1C_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.477+13T>C r.(=) p.(=) Unknown - benign g.2229609T>C g.2120443T>C CACNA1C(NM_199460.3):c.477+13T>C - CACNA1C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.478-19T>G r.(=) p.(=) Unknown - benign g.2558123T>G g.2448957T>G - - CACNA1C_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.513G>A r.(?) p.(Thr171=) Unknown - VUS g.2558177G>A g.2449011G>A CACNA1C(NM_199460.3):c.513G>A (p.T171=) - CACNA1C_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.522G>A r.(?) p.(Ala174=) Unknown - benign g.2558186G>A g.2449020G>A CACNA1C(NM_199460.3):c.522G>A (p.A174=) - CACNA1C_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.563A>G r.(?) p.(Asn188Ser) Unknown - VUS g.2558227A>G g.2449061A>G CACNA1C(NM_199460.3):c.563A>G (p.N188S) - CACNA1C_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.579C>T r.(?) p.(Asn193=) Unknown - benign g.2558243C>T g.2449077C>T CACNA1C(NM_199460.3):c.579C>T (p.N193=) - CACNA1C_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.615G>T r.(?) p.(Val205=) Unknown - benign g.2558279G>T g.2449113G>T CACNA1C(NM_199460.3):c.615G>T (p.V205=) - CACNA1C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.617+17G>A r.(=) p.(=) Unknown - benign g.2558298G>A g.2449132G>A CACNA1C(NM_199460.3):c.617+17G>A - CACNA1C_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.617+19T>C r.(=) p.(=) Unknown - benign g.2558300T>C g.2449134T>C CACNA1C(NM_199460.3):c.617+19T>C - CACNA1C_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.618-7C>T r.(=) p.(=) Unknown - likely benign g.2566726C>T g.2457560C>T CACNA1C(NM_199460.3):c.618-7C>T - CACNA1C_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.618G>A r.(?) p.(Gly206=) Unknown - VUS g.2566733G>A g.2457567G>A CACNA1C(NM_000719.6):c.618G>A (p.?) - CACNA1C_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.673G>A r.(?) p.(Gly225Arg) Unknown - VUS g.2566788G>A g.2457622G>A - - CACNA1C_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.724C>T r.(?) p.(Leu242=) Unknown - likely benign g.2566839C>T g.2457673C>T CACNA1C(NM_199460.3):c.724C>T (p.L242=) - CACNA1C_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.771C>T r.(?) p.(Val257=) Unknown - benign g.2595283C>T g.2486117C>T CACNA1C(NM_199460.3):c.771C>T (p.V257=) - CACNA1C_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.792C>A r.(?) p.(Ala264=) Unknown - likely benign g.2595304C>A g.2486138C>A CACNA1C(NM_000719.6):c.792C>A (p.A264=), CACNA1C(NM_199460.3):c.792C>A (p.A264=) - CACNA1C_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.792C>A r.(?) p.(Ala264=) Unknown - likely benign g.2595304C>A - CACNA1C(NM_000719.6):c.792C>A (p.A264=), CACNA1C(NM_199460.3):c.792C>A (p.A264=) - CACNA1C_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.815C>T r.(?) p.(Ala272Val) Unknown - VUS g.2595327C>T g.2486161C>T CACNA1C(NM_199460.2):c.815C>T (p.(Ala272Val)) - CACNA1C_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.828G>A r.(?) p.(Leu276=) Unknown - benign g.2595340G>A g.2486174G>A CACNA1C(NM_199460.3):c.828G>A (p.L276=) - CACNA1C_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.846C>T r.(?) p.(Tyr282=) Unknown - benign g.2595358C>T - CACNA1C(NM_001167623.2):c.846C>T (p.Y282=) - CACNA1C_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.911T>C r.(?) p.(Ile304Thr) Unknown - likely benign g.2595423T>C g.2486257T>C CACNA1C(NM_001167623.2):c.911T>C (p.I304T) - CACNA1C_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.916+12_916+16del r.(=) p.(=) Unknown - benign g.2595440_2595444del g.2486274_2486278del CACNA1C(NM_199460.3):c.916+12_916+16delAGGCG - CACNA1C_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.939T>C r.(?) p.(Pro313=) Unknown - likely benign g.2602378T>C - - - CACNA1C_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960G>A r.(?) p.(Thr320=) Unknown - likely benign g.2602399G>A - - - CACNA1C_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.966C>T r.(?) p.(His322=) Unknown - benign g.2602405C>T g.2493239C>T CACNA1C(NM_199460.3):c.966C>T (p.H322=) - CACNA1C_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.966C>T r.(?) p.(His322=) Unknown - likely benign g.2602405C>T - CACNA1C(NM_199460.3):c.966C>T (p.H322=) - CACNA1C_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.971G>A r.(?) p.(Arg324Gln) Unknown - VUS g.2602410G>A g.2493244G>A CACNA1C(NM_199460.3):c.971G>A (p.R324Q) - CACNA1C_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.984C>T r.(?) p.(Asn328=) Unknown - benign g.2602423C>T g.2493257C>T CACNA1C(NM_199460.3):c.984C>T (p.N328=) - CACNA1C_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.984C>T r.(?) p.(Asn328=) Unknown - likely benign g.2602423C>T g.2493257C>T CACNA1C(NM_199460.3):c.984C>T (p.N328=) - CACNA1C_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.990G>A r.(?) p.(Thr330=) Unknown - benign g.2602429G>A g.2493263G>A CACNA1C(NM_199460.3):c.990G>A (p.T330=) - CACNA1C_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1002C>T r.(?) p.(Pro334=) Unknown - benign g.2602441C>T g.2493275C>T CACNA1C(NM_001167623.2):c.1002C>T (p.P334=), CACNA1C(NM_199460.3):c.1002C>T (p.P334=) - CACNA1C_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1002C>T r.(?) p.(Pro334=) Unknown - likely benign g.2602441C>T - CACNA1C(NM_001167623.2):c.1002C>T (p.P334=), CACNA1C(NM_199460.3):c.1002C>T (p.P334=) - CACNA1C_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1003G>A r.(?) p.(Gly335Ser) Unknown - VUS g.2602442G>A - CACNA1C(NM_001167623.2):c.1003G>A (p.G335S) - CACNA1C_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1097C>T r.(?) p.(Thr366Met) Unknown - likely pathogenic g.2602536C>T g.2493370C>T - - CACNA1C_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1098G>A r.(?) p.(Thr366=) Unknown - likely benign g.2602537G>A g.2493371G>A - - CACNA1C_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1101C>T r.(?) p.(Asp367=) Unknown - likely benign g.2602540C>T - - - CACNA1C_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1104G>A r.(?) p.(Val368=) Unknown - likely benign g.2602543G>A g.2493377G>A - - CACNA1C_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1113+23C>A r.(=) p.(=) Unknown - likely benign g.2602575C>A g.2493409C>A CACNA1C(NM_199460.3):c.1113+23C>A - CACNA1C_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1113+26A>C r.(=) p.(=) Unknown - benign g.2602578A>C g.2493412A>C CACNA1C(NM_199460.3):c.1113+26A>C - CACNA1C_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1114-316G>A r.(=) p.(=) Unknown - pathogenic g.2613692G>A g.2504526G>A CACNA1C(NM_001167625.1):c.1204G>A (p.G402S) - CACNA1C_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1114-292C>T r.(=) p.(=) Unknown - benign g.2613716C>T g.2504550C>T CACNA1C(NM_199460.3):c.1114-292C>T - CACNA1C_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1114-291G>A r.(=) p.(=) Unknown - benign g.2613717G>A g.2504551G>A CACNA1C(NM_199460.3):c.1114-291G>A - CACNA1C_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1126G>T r.(?) p.(Val376Leu) Unknown - likely benign g.2614020G>T g.2504854G>T CACNA1C(NM_199460.3):c.1126G>T (p.V376L) - CACNA1C_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1176G>A r.(?) p.(Gly392=) Unknown - likely benign g.2614070G>A g.2504904G>A - - CACNA1C_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1176G>T r.(?) p.(Gly392=) Unknown - benign g.2614070G>T g.2504904G>T CACNA1C(NM_199460.3):c.1176G>T (p.G392=) - CACNA1C_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1176G>T r.(?) p.(Gly392=) Unknown - benign g.2614070G>T g.2504904G>T CACNA1C(NM_199460.3):c.1176G>T (p.G392=) - CACNA1C_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1216G>A r.(?) p.(Gly406Arg) Unknown - pathogenic g.2614110G>A g.2504944G>A CACNA1C(NM_000719.6):c.1216G>A (p.(Gly406Arg)) - CACNA1C_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1216G>A r.(?) p.(Gly406Arg) Unknown - pathogenic g.2614110G>A - CACNA1C(NM_000719.6):c.1216G>A (p.(Gly406Arg)) - CACNA1C_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1217+10A>C r.(=) p.(=) Unknown - benign g.2614121A>C g.2504955A>C CACNA1C(NM_199460.3):c.1217+10A>C - CACNA1C_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1217+13A>G r.(=) p.(=) Unknown - benign g.2614124A>G g.2504958A>G CACNA1C(NM_199460.3):c.1217+13A>G - CACNA1C_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1332C>T r.(?) p.(Ala444=) Unknown - benign g.2622092C>T g.2512926C>T CACNA1C(NM_199460.3):c.1332C>T (p.A444=) - CACNA1C_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1342G>A r.(?) p.(Asp448Asn) Unknown - VUS g.2622102G>A g.2512936G>A CACNA1C(NM_000719.6):c.1342G>A (p.D448N), CACNA1C(NM_199460.3):c.1342G>A (p.D448N) - CACNA1C_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1342G>A r.(?) p.(Asp448Asn) Unknown - VUS g.2622102G>A - CACNA1C(NM_000719.6):c.1342G>A (p.D448N), CACNA1C(NM_199460.3):c.1342G>A (p.D448N) - CACNA1C_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1359C>T r.(?) p.(Asp453=) Unknown - benign g.2622119C>T g.2512953C>T CACNA1C(NM_001167623.2):c.1359C>T (p.D453=) - CACNA1C_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1382C>A r.(?) p.(Pro461His) Both (homozygous) ACMG likely pathogenic (recessive) g.2622142C>A g.2512976C>A - - CACNA1C_000286 - PubMed: Hu 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ID M8600494 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - 0 - - 3 Johan den Dunnen
?/. - c.1391-2457_1391-2452dup r.(=) p.(=) Unknown - VUS g.2656652_2656657dup - - - CACNA1C_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1391-27G>T r.(=) p.(=) Unknown - benign g.2659082G>T g.2549916G>T CACNA1C(NM_199460.3):c.1391-27G>T - CACNA1C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1414G>A r.(?) p.(Glu472Lys) Unknown - VUS g.2659132G>A - CACNA1C(NM_000719.6):c.1414G>A (p.E472K) - CACNA1C_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1453G>A r.(?) p.(Glu485Lys) Unknown - VUS g.2659171G>A g.2550005G>A CACNA1C(NM_000719.6):c.1453G>A (p.(Glu485Lys)) - CACNA1C_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1468G>A r.(?) p.(Gly490Arg) Unknown - VUS g.2659186G>A g.2550020G>A CACNA1C(NM_199460.3):c.1468G>A (p.G490R) - CACNA1C_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1468G>A r.(?) p.(Gly490Arg) Unknown - VUS g.2659186G>A g.2550020G>A CACNA1C(NM_199460.3):c.1468G>A (p.G490R) - CACNA1C_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1481C>T r.(?) p.(Ala494Val) Unknown - VUS g.2659199C>T g.2550033C>T CACNA1C(NM_001167623.2):c.1481C>T (p.A494V), CACNA1C(NM_199460.4):c.1481C>T (p.A494V) - CACNA1C_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1481C>T r.(?) p.(Ala494Val) Unknown - VUS g.2659199C>T - CACNA1C(NM_001167623.2):c.1481C>T (p.A494V), CACNA1C(NM_199460.4):c.1481C>T (p.A494V) - CACNA1C_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1523G>A r.(?) p.(Arg508Gln) Unknown - VUS g.2675602G>A - CACNA1C(NM_199460.3):c.1523G>A (p.R508Q) - CACNA1C_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1524G>A r.(?) p.(Arg508=) Unknown - benign g.2675603G>A g.2566437G>A CACNA1C(NM_199460.3):c.1524G>A (p.R508=) - CACNA1C_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1552C>A r.(?) p.(Arg518Ser) Unknown - likely pathogenic g.2675631C>A g.2566465C>A CACNA1C(NM_199460.3):c.1552C>A (p.R518S) - CACNA1C_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1552C>T r.(?) p.(Arg518Cys) Unknown - pathogenic g.2675631C>T g.2566465C>T - - CACNA1C_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1555G>A r.(?) p.(Ala519Thr) Unknown - VUS g.2675634G>A g.2566468G>A CACNA1C(NM_199460.3):c.1555G>A (p.A519T) - CACNA1C_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1555G>A r.(?) p.(Ala519Thr) Unknown - VUS g.2675634G>A - CACNA1C(NM_199460.3):c.1555G>A (p.A519T) - CACNA1C_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1557C>A r.(?) p.(Ala519=) Unknown - likely benign g.2675636C>A g.2566470C>A CACNA1C(NM_199460.3):c.1557C>A (p.A519=) - CACNA1C_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1558G>A r.(?) p.(Ala520Thr) Unknown - VUS g.2675637G>A g.2566471G>A CACNA1C(NM_199460.3):c.1558G>A (p.A520T) - CACNA1C_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1599G>A r.(?) p.(Leu533=) Unknown - benign g.2675678G>A g.2566512G>A CACNA1C(NM_199460.3):c.1599G>A (p.L533=) - CACNA1C_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1649A>G r.(?) p.(Asn550Ser) Unknown - likely benign g.2675728A>G - - - CACNA1C_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1669+10G>A r.(=) p.(=) Unknown - likely benign g.2675758G>A - CACNA1C(NM_199460.3):c.1669+10G>A - CACNA1C_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1670-19C>G r.(=) p.(=) Unknown - benign g.2676716C>G g.2567550C>G CACNA1C(NM_199460.3):c.1670-19C>G - CACNA1C_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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