All variants in the CACNA1D gene

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

276 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. - c.-19G>A r.(?) p.(=) - benign g.53529175G>A g.53495148G>A CACNA1D(NM_000720.4):c.-19G>A - CACNA1D_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1A>G r.(?) p.(Met1?) - VUS g.53529194A>G g.53495167A>G CACNA1D(NM_000720.3):c.1A>G (p.M1?) - CACNA1D_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.20_22del r.(?) p.(Met7del) - benign g.53529213_53529215del g.53495186_53495188del CACNA1D(NM_000720.4):c.-1_2delGAT - CACNA1D_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.20_22dup r.(?) p.(Met7dup) - likely benign g.53529213_53529215dup g.53495186_53495188dup CACNA1D(NM_000720.4):c.-2_-1insGAT - CACNA1D_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.68-8C>T r.(=) p.(=) - likely benign g.53531171C>T g.53497144C>T - - CACNA1D_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.71C>G r.(?) p.(Ala24Gly) - likely benign g.53531182C>G - CACNA1D(NM_001128840.2):c.71C>G (p.(Ala24Gly)) - CACNA1D_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.172G>A r.(?) p.(Asp58Asn) - VUS g.53531283G>A g.53497256G>A CACNA1D(NM_000720.4):c.172G>A (p.D58N) - CACNA1D_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.188C>T r.(?) p.(Ala63Val) - VUS g.53531299C>T g.53497272C>T - - CACNA1D_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.222C>T r.(?) p.(Pro74=) - benign g.53531333C>T g.53497306C>T CACNA1D(NM_000720.4):c.222C>T (p.P74=) - CACNA1D_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.264C>T r.(?) p.(Tyr88=) - benign g.53531375C>T g.53497348C>T CACNA1D(NM_000720.4):c.264C>T (p.Y88=) - CACNA1D_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.264C>T r.(?) p.(Tyr88=) - likely benign g.53531375C>T - CACNA1D(NM_000720.4):c.264C>T (p.Y88=) - CACNA1D_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.269_272del r.(?) p.(Lys90ThrfsTer32) - likely benign g.53531380_53531383del g.53497353_53497356del CACNA1D(NM_000720.4):c.269_272delAGAG (p.K90Tfs*32) - CACNA1D_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.291G>T r.(?) p.(=) - likely benign g.53531402G>T - CACNA1D(NM_000720.4):c.291G>T (p.S97=) - CACNA1D_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.312C>T r.(?) p.(Arg104=) - benign g.53531423C>T g.53497396C>T CACNA1D(NM_000720.4):c.312C>T (p.R104=) - CACNA1D_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.320T>G r.(?) p.(Phe107Cys) - VUS g.53531431T>G - CACNA1D(NM_001128840.2):c.320T>G (p.(Phe107Cys)) - CACNA1D_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.378-7T>A r.(=) p.(=) - likely benign g.53535635T>A g.53501608T>A CACNA1D(NM_000720.2):c.378-7T>A (p.(=)) - CACNA1D_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.391T>C r.(?) p.(Phe131Leu) - likely benign g.53535655T>C - CACNA1D(NM_001128840.2):c.391T>C (p.(Phe131Leu)) - CACNA1D_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.484-1857C>T - - - VUS (!) g.53682949C>T g.53649037C>T RPGRIP1L R744Q p=0.049 - IQCB1_000092 modifier of X-linked retinitis pigmentosa; association with more severe phenotype in RPGR patients (98 affected males tested, p value = 0.044); heterozygous PubMed: Fahim 2012 - - Unknown ? - - - - LOVD
-?/. - c.484-17T>A r.(=) p.(=) - likely benign g.53684789T>A - CACNA1D(NM_000720.4):c.484-17T>A - CACNA1D_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.484-4A>G r.spl? p.? - likely benign g.53684802A>G g.53650775A>G - - CACNA1D_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.546G>A r.(?) p.(Ala182=) - benign g.53684868G>A g.53650841G>A CACNA1D(NM_000720.4):c.546G>A (p.A182=) - CACNA1D_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.623+8T>A r.(=) p.(=) - benign g.53684953T>A g.53650926T>A CACNA1D(NM_000720.4):c.623+8T>A - CACNA1D_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.645A>G r.(?) p.(Glu215=) - likely benign g.53694181A>G g.53660154A>G - - CACNA1D_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.648A>G r.(?) p.(Gln216=) - benign g.53694184A>G g.53660157A>G CACNA1D(NM_000720.3):c.648A>G (p.Q216=), CACNA1D(NM_000720.4):c.648A>G (p.Q216=) - CACNA1D_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.648A>G r.(?) p.(Gln216=) - likely benign g.53694184A>G g.53660157A>G CACNA1D(NM_000720.3):c.648A>G (p.Q216=), CACNA1D(NM_000720.4):c.648A>G (p.Q216=) - CACNA1D_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.648A>G r.(?) p.(Gln216=) - VUS g.53694184A>G g.53660157A>G CACNA1D(NM_000720.3):c.648A>G (p.Q216=), CACNA1D(NM_000720.4):c.648A>G (p.Q216=) - CACNA1D_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.648A>G r.(?) p.(Gln216=) - likely benign g.53694184A>G - CACNA1D(NM_000720.3):c.648A>G (p.Q216=), CACNA1D(NM_000720.4):c.648A>G (p.Q216=) - CACNA1D_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.687C>T r.(?) p.(Gly229=) - VUS g.53694223C>T g.53660196C>T CACNA1D(NM_000720.3):c.687C>T (p.G229=) - CACNA1D_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.723C>T r.(?) p.(Ala241=) - benign g.53694259C>T g.53660232C>T CACNA1D(NM_000720.4):c.723C>T (p.A241=) - CACNA1D_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.736C>T r.(?) p.(Arg246*) - VUS g.53694272C>T - CACNA1D(NM_000720.4):c.736C>T (p.R246*) - CACNA1D_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.762G>A r.(?) p.(Val254=) - benign g.53694298G>A g.53660271G>A CACNA1D(NM_000720.4):c.762G>A (p.V254=) - CACNA1D_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.766+18_766+20del r.(=) p.(=) - likely benign g.53694320_53694322del - CACNA1D(NM_000720.4):c.766+18_766+20delCCT - CACNA1D_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.767-12dup r.(=) p.(=) - benign g.53699675dup g.53665648dup CACNA1D(NM_000720.4):c.767-12dupT - CACNA1D_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.767-12dup r.(=) p.(=) - likely benign g.53699675dup - CACNA1D(NM_000720.4):c.767-12dupT - CACNA1D_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.846C>T r.(?) p.(Ile282=) - benign g.53699766C>T g.53665739C>T CACNA1D(NM_000720.4):c.846C>T (p.I282=) - CACNA1D_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.859A>G r.(?) p.(Ile287Val) - VUS g.53699779A>G - CACNA1D(NM_001128840.3):c.859A>G (p.(Ile287Val)) - CACNA1D_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.900A>G r.(?) p.(Thr300=) - likely benign g.53699820A>G g.53665793A>G CACNA1D(NM_000720.3):c.900A>G (p.T300=) - CACNA1D_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.920-17G>C r.(=) p.(=) - benign g.53700349G>C g.53666322G>C CACNA1D(NM_000720.4):c.920-17G>C - CACNA1D_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.927A>G r.(?) p.(Val309=) - benign g.53700373A>G g.53666346A>G CACNA1D(NM_000720.4):c.927A>G (p.V309=) - CACNA1D_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.954G>A r.(?) p.(Ala318=) - benign g.53700400G>A g.53666373G>A CACNA1D(NM_000720.3):c.954G>A (p.A318=), CACNA1D(NM_000720.4):c.954G>A (p.A318=) - CACNA1D_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.954G>A r.(?) p.(Ala318=) - likely benign g.53700400G>A g.53666373G>A CACNA1D(NM_000720.3):c.954G>A (p.A318=), CACNA1D(NM_000720.4):c.954G>A (p.A318=) - CACNA1D_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1003A>C r.(?) p.(Ser335Arg) - VUS g.53700449A>C - CACNA1D(NM_000720.4):c.1003A>C (p.S335R) - CACNA1D_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1007G>A r.(?) p.(Gly336Asp) - VUS g.53700453G>A g.53666426G>A CACNA1D(NM_000720.4):c.1007G>A (p.G336D) - CACNA1D_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1033A>C r.(?) p.(Thr345Pro) - VUS g.53700479A>C - - - CACNA1D_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 7 c.1104T>C r.(=) p.(=) - VUS g.53700550T>C g.53666523T>C - - CACNA1D_000005 - - - - Germline - - - - - Yu Sun
-/. - c.1104T>C r.(?) p.(Asp368=) - benign g.53700550T>C g.53666523T>C CACNA1D(NM_000720.4):c.1104T>C (p.D368=) - CACNA1D_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1104T>C r.(?) p.(Asp368=) - benign g.53700550T>C g.53666523T>C CACNA1D(NM_000720.4):c.1104T>C (p.D368=) - CACNA1D_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1112A>C r.(?) p.(Tyr371Ser) - VUS g.53700558A>C g.53666531A>C CACNA1D(NM_000720.4):c.1112A>C (p.Y371S), CACNA1D(NM_001128840.3):c.1112A>C (p.(Tyr371Ser)) - CACNA1D_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1112A>C r.(?) p.(Tyr371Ser) - VUS g.53700558A>C - CACNA1D(NM_000720.4):c.1112A>C (p.Y371S), CACNA1D(NM_001128840.3):c.1112A>C (p.(Tyr371Ser)) - CACNA1D_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1112A>C r.(?) p.(Tyr371Ser) - VUS g.53700558A>C - CACNA1D(NM_000720.4):c.1112A>C (p.Y371S), CACNA1D(NM_001128840.3):c.1112A>C (p.(Tyr371Ser)) - CACNA1D_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 7i c.1117-600G>C r.(=) p.(=) - pathogenic g.53707140G>C g.53673113G>C NM_001128840.2:c.1207G>C (p.Gly403Arg) - CACNA1D_000012 - PubMed: Scholl 2013, Journal: Scholl 2013 - - Somatic - - - - - Johan den Dunnen
./. 7i c.1117-600G>C r.(?) p.(=) - pathogenic g.53707140G>C g.53673113G>C - - CACNA1D_000012 - PubMed: Scholl 2013, Journal: Scholl 2013 - - Somatic - - - - - Johan den Dunnen
./. 7i c.1117-600G>C r.(=) p.(=) - pathogenic g.53707140G>C g.53673113G>C - - CACNA1D_000012 - PubMed: Scholl 2013, Journal: Scholl 2013 - - Somatic - - - - - Johan den Dunnen
+?/+? 7i c.1117-600G>C r.(=) p.(=) - likely pathogenic g.53707140G>C g.53673113G>C - - CACNA1D_000012 - MORL Deafness Variation Database - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. - c.1117-595A>G r.(=) p.(=) - likely benign g.53707145A>G g.53673118A>G CACNA1D(NM_001128840.3):c.1212A>G (p.V404=) - CACNA1D_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1127C>T r.(?) p.(Ala376Val) - VUS g.53707750C>T - CACNA1D(NM_000720.4):c.1127C>T (p.(Ala376Val)) - CACNA1D_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 8 c.1201G>C r.(?) p.(Val401Leu) other pathogenic g.53707824G>C g.53673797G>C g.53707134G>C - CACNA1D_000007 pathogenicity based on ACMG-criteria and functional studies (see Ortner et al., 2020, doi: 10.1007/s00424-020-02418-w Pinggera et al., 2017; https://doi.org/10.1093/hmg/ddx175 - - De novo ? very rare - - - Joerg Striessnig
+/. 8 c.1207G>C r.1207g>c p.Gly403Arg - pathogenic g.53707830G>C g.53673803G>C - - CACNA1D_000011 - PubMed: Scholl 2013, Journal: Scholl 2013 - - Somatic - - - - - Johan den Dunnen
+/. 8 c.1208G>A r.(?) p.(Gly403Asp) - pathogenic g.53707831G>A g.53673804G>A - - CACNA1D_000009 - PubMed: Scholl 2013, Journal: Scholl 2013, OMIM:var0002 - rs386834264 De novo - - - - - Johan den Dunnen
+/+ 8 c.1208G>A r.(?) p.(Gly403Asp) - pathogenic g.53707831G>A g.53673804G>A - - CACNA1D_000009 - MORL Deafness Variation Database, PubMed: Scholl 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/. 8 c.1208_1209insGGG r.(?) p.(Gly403dup) - pathogenic g.53707831_53707832insGGG g.53673804_53673805insGGG p.403_404insGly - CACNA1D_000008 - PubMed: Baig 2011, Journal: Baig 2011, OMIM:var0001 - rs398122827 Germline yes - - - - Johan den Dunnen
+/. 8 c.1208_1209insGGG r.(?) p.(Gly403dup) - pathogenic g.53707831_53707832insGGG g.53673804_53673805insGGG p.403_404insGly - CACNA1D_000008 - PubMed: Baig 2011, Journal: Baig 2011, OMIM:var0001 - rs398122827 Germline yes - - - - Johan den Dunnen
+/. 8 c.1208_1209insGGG r.(?) p.(Gly403dup) - pathogenic g.53707831_53707832insGGG g.53673804_53673805insGGG - - CACNA1D_000008 - PubMed: Baig 2011, Journal: Baig 2011 - rs398122827 Germline - 1/510 control chromosomes - - - Johan den Dunnen
+/. 8 c.1208_1209insGGG r.(?) p.Gly403dup - NA g.53707831_53707832insGGG g.53673804_53673805insGGG - - CACNA1D_000008 cDNA expression cloning showed nonconducting calcium channels with abnormal voltage-dependent gating PubMed: Baig 2011, Journal: Baig 2011 - - In vitro (cloned) - - - - - Johan den Dunnen
+/+ 8 c.1208_1209insGGG r.(?) p.(Gly403dup) - pathogenic g.53707831_53707832insGGG g.53673804_53673805insGGG - - CACNA1D_000008 - MORL Deafness Variation Database, PubMed: Baig 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 8 c.1219G>A r.(?) p.(Gly407Arg) - pathogenic g.53707842G>A g.53673815G>A - - CACNA1D_000143 - MORL Deafness Variation Database, PubMed: Iossifov 2012 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. - c.1220+5G>A r.spl? p.? - VUS g.53707848G>A - CACNA1D(NM_001128840.3):c.1220+695G>A - CACNA1D_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1220+10C>T r.(=) p.(=) - benign g.53707853C>T g.53673826C>T CACNA1D(NM_000720.4):c.1220+10C>T - CACNA1D_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1233G>A r.(?) p.(Lys411=) - likely benign g.53736680G>A - CACNA1D(NM_001128840.3):c.1233G>A (p.K411=) - CACNA1D_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1291C>A r.(?) p.(Leu431Met) - VUS g.53736738C>A - CACNA1D(NM_000720.4):c.1291C>A (p.L431M) - CACNA1D_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1344C>T r.(?) p.(Ile448=) - benign g.53736791C>T g.53702764C>T CACNA1D(NM_000720.3):c.1344C>T (p.I448=), CACNA1D(NM_000720.4):c.1344C>T (p.I448=) - CACNA1D_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1344C>T r.(?) p.(Ile448=) - likely benign g.53736791C>T g.53702764C>T CACNA1D(NM_000720.3):c.1344C>T (p.I448=), CACNA1D(NM_000720.4):c.1344C>T (p.I448=) - CACNA1D_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1344C>T r.(?) p.(Ile448=) - likely benign g.53736791C>T - CACNA1D(NM_000720.3):c.1344C>T (p.I448=), CACNA1D(NM_000720.4):c.1344C>T (p.I448=) - CACNA1D_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1350G>A r.(?) p.(Pro450=) - benign g.53736797G>A g.53702770G>A CACNA1D(NM_000720.4):c.1350G>A (p.P450=) - CACNA1D_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1351G>C r.(?) p.(Glu451Gln) - likely benign g.53736798G>C g.53702771G>C - - CACNA1D_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1385G>A r.(?) p.(Arg462Gln) - VUS g.53736832G>A g.53702805G>A CACNA1D(NM_000720.3):c.1385G>A (p.R462Q) - CACNA1D_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1407C>T r.(?) p.(Ser469=) - benign g.53752344C>T g.53718317C>T CACNA1D(NM_000720.4):c.1407C>T (p.S469=) - CACNA1D_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1407C>T r.(?) p.(Ser469=) - likely benign g.53752344C>T - CACNA1D(NM_000720.4):c.1407C>T (p.S469=) - CACNA1D_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1457G>A r.(?) p.(Arg486Gln) - VUS g.53752394G>A - CACNA1D(NM_001128840.3):c.1457G>A (p.(Arg486Gln)) - CACNA1D_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1469G>A r.(?) p.(Gly490Glu) - likely benign g.53752406G>A - CACNA1D(NM_001128840.2):c.1469G>A (p.(Gly490Glu)) - CACNA1D_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1478+4A>C r.spl? p.? - VUS g.53752419A>C - CACNA1D(NM_001128840.3):c.1478+4A>C - CACNA1D_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1480T>C r.(?) p.(Cys494Arg) - VUS g.53752710T>C g.53718683T>C CACNA1D(NM_000720.4):c.1480T>C (p.C494R) - CACNA1D_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 11 c.1493G>T r.(?) p.(Arg498Leu) ACMG likely pathogenic g.53752723G>T g.53718696G>T - - CACNA1D_000097 no segregation analysis performed PubMed: TumienÄ— 2018 - - Germline - - - - - Johan den Dunnen
-?/. - c.1577G>A r.(?) p.(Arg526His) - likely benign g.53756352G>A - CACNA1D(NM_001128840.2):c.1517G>A (p.(Arg506His)) - CACNA1D_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1650C>T r.(?) p.(Ile550=) - benign g.53756425C>T g.53722398C>T CACNA1D(NM_000720.3):c.1650C>T (p.I550=), CACNA1D(NM_000720.4):c.1650C>T (p.I550=) - CACNA1D_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1650C>T r.(?) p.(Ile550=) - likely benign g.53756425C>T g.53722398C>T CACNA1D(NM_000720.3):c.1650C>T (p.I550=), CACNA1D(NM_000720.4):c.1650C>T (p.I550=) - CACNA1D_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1650C>T r.(?) p.(Ile550=) - likely benign g.53756425C>T - CACNA1D(NM_000720.3):c.1650C>T (p.I550=), CACNA1D(NM_000720.4):c.1650C>T (p.I550=) - CACNA1D_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1697A>G r.(?) p.(Asn566Ser) - VUS g.53756472A>G g.53722445A>G CACNA1D(NM_000720.4):c.1697A>G (p.N566S) - CACNA1D_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1697A>G r.(?) p.(Asn566Ser) - VUS g.53756472A>G - CACNA1D(NM_000720.4):c.1697A>G (p.N566S) - CACNA1D_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1764C>T r.(?) p.(Cys588=) - likely benign g.53757498C>T g.53723471C>T CACNA1D(NM_000720.4):c.1764C>T (p.C588=) - CACNA1D_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1771C>T r.(?) p.(Leu591=) - likely benign g.53757505C>T g.53723478C>T CACNA1D(NM_000720.3):c.1771C>T (p.L591=) - CACNA1D_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1865C>T r.(?) p.(Thr622Met) - VUS g.53757599C>T g.53723572C>T CACNA1D(NM_000720.4):c.1865C>T (p.T622M) - CACNA1D_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1865C>T r.(?) p.(Thr622Met) - VUS g.53757599C>T - CACNA1D(NM_000720.4):c.1865C>T (p.T622M) - CACNA1D_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1981G>A r.(?) p.(Ala661Thr) - VUS g.53757847G>A - CACNA1D(NM_001128840.3):c.1921G>A (p.A641T) - CACNA1D_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1999A>T r.(?) p.(Met667Leu) - VUS g.53757865A>T g.53723838A>T CACNA1D(NM_000720.3):c.1999A>T (p.M667L), CACNA1D(NM_000720.4):c.1999A>T (p.M667L) - CACNA1D_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1999A>T r.(?) p.(Met667Leu) - VUS g.53757865A>T g.53723838A>T CACNA1D(NM_000720.3):c.1999A>T (p.M667L), CACNA1D(NM_000720.4):c.1999A>T (p.M667L) - CACNA1D_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2058G>A r.(?) p.(Leu686=) - benign g.53757924G>A g.53723897G>A CACNA1D(NM_000720.3):c.2058G>A (p.L686=), CACNA1D(NM_000720.4):c.2058G>A (p.L686=) - CACNA1D_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2058G>A r.(?) p.(Leu686=) - likely benign g.53757924G>A g.53723897G>A CACNA1D(NM_000720.3):c.2058G>A (p.L686=), CACNA1D(NM_000720.4):c.2058G>A (p.L686=) - CACNA1D_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2058G>A r.(?) p.(Leu686=) - likely benign g.53757924G>A - CACNA1D(NM_000720.3):c.2058G>A (p.L686=), CACNA1D(NM_000720.4):c.2058G>A (p.L686=) - CACNA1D_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2079C>T r.(?) p.(Gly693=) - benign g.53757945C>T g.53723918C>T CACNA1D(NM_000720.4):c.2079C>T (p.G693=) - CACNA1D_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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