All variants in the CACNA1E gene

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

130 entries on 2 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.-229C>A r.(?) p.(=) - VUS g.181452652C>A - CACNA1E(NM_001205293.3):c.-229C>A - CACNA1E_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.98C>T r.(?) p.(Ser33Leu) - VUS g.181452978C>T - CACNA1E(NM_001205293.3):c.98C>T (p.(Ser33Leu)) - CACNA1E_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.124A>C r.(?) p.(Thr42Pro) - likely benign g.181453004A>C - CACNA1E(NM_001205293.1):c.124A>C (p.(Thr42Pro)) - CACNA1E_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.512+24_512+27del r.(=) p.(=) - likely benign g.181480670_181480673del - CACNA1E(NM_000721.4):c.512+24_512+27delCTGT - CACNA1E_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.616+3G>A r.= p.= - VUS g.181547008G>A g.181577872G>A - - CACNA1E_000064 - PubMed: Bournazos 2022 - - Germline - - - - - Johan den Dunnen
+/. 5 c.683T>C r.(?) (p.Leu228Pro) - pathogenic (dominant) g.181548274T>C g.181579138T>C - - CACNA1E_000011 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
-?/. - c.952-12397A>G r.(=) p.(=) - likely benign g.181608077A>G - CACNA1E(NM_001205293.3):c.952-12397A>G - CACNA1E_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1023T>C r.(?) p.(Phe341=) - likely benign g.181620545T>C - CACNA1E(NM_001205293.2):c.1023T>C (p.F341=) - CACNA1E_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 7 c.1042G>C r.(?) (p.Gly348Arg) - pathogenic (dominant) g.181620564G>C g.181651428G>C - - CACNA1E_000012 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
-?/. - c.1053C>A r.(?) p.(Ser351=) - likely benign g.181620575C>A g.181651439C>A CACNA1E(NM_001205293.2):c.1053C>A (p.S351=) - CACNA1E_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1053C>T r.(?) p.(Ser351=) - likely benign g.181620575C>T - CACNA1E(NM_001205293.2):c.1053C>T (p.S351=) - CACNA1E_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1054G>A r.(?) p.(Gly352Arg) - VUS g.181620576G>A g.181651440G>A CACNA1E(NM_000721.3):c.1054G>A (p.(Gly352Arg)) - CACNA1E_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 7 c.1054G>A r.(?) (p.Gly352Arg) - pathogenic (dominant) g.181620576G>A g.181651440G>A - - CACNA1E_000009 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 7 c.1054G>A r.(?) (p.Gly352Arg) - pathogenic (dominant) g.181620576G>A g.181651440G>A - - CACNA1E_000009 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 7 c.1054G>A r.(?) (p.Gly352Arg) - pathogenic (dominant) g.181620576G>A g.181651440G>A - - CACNA1E_000009 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 7 c.1054G>A r.(?) (p.Gly352Arg) - pathogenic (dominant) g.181620576G>A g.181651440G>A - - CACNA1E_000009 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 7 c.1054G>A r.(?) (p.Gly352Arg) - pathogenic (dominant) g.181620576G>A g.181651440G>A - - CACNA1E_000009 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 7 c.1054G>A r.(?) (p.Gly352Arg) - pathogenic (dominant) g.181620576G>A g.181651440G>A - - CACNA1E_000009 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 7 c.1054G>A r.(?) (p.Gly352Arg) - pathogenic (dominant) g.181620576G>A g.181651440G>A - - CACNA1E_000009 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 7 c.1054G>A r.(?) (p.Gly352Arg) - pathogenic (dominant) g.181620576G>A g.181651440G>A - - CACNA1E_000009 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 7 c.1054G>A r.(?) (p.Gly352Arg) - pathogenic (dominant) g.181620576G>A g.181651440G>A - - CACNA1E_000009 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.1054G>A r.(?) p.(Gly352Arg) - pathogenic g.181620576G>A g.181651440G>A CACNA1E(NM_000721.3):c.1054G>A (p.(Gly352Arg)) - CACNA1E_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1145G>T r.(?) p.(Gly382Val) - VUS g.181680179G>T - CACNA1E(NM_000721.4):c.1145G>T (p.G382V) - CACNA1E_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.1171+1G>T r.spl? p.? - likely pathogenic g.181680206G>T - CACNA1E(NM_001205293.1):c.1171+1G>T (p.?) - CACNA1E_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1215C>A r.(?) p.(Ser405=) - likely benign g.181684517C>A - CACNA1E(NM_001205293.2):c.1215C>A (p.S405=) - CACNA1E_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1255C>T r.(?) p.(Arg419Trp) - VUS g.181685205C>T - CACNA1E(NM_001205293.2):c.1255C>T (p.R419W) - CACNA1E_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1274G>C r.(?) p.(Arg425Pro) - VUS g.181685224G>C - CACNA1E(NM_000721.4):c.1274G>C (p.R425P) - CACNA1E_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1308C>G r.(?) p.(Ser436=) - likely benign g.181685258C>G - CACNA1E(NM_000721.4):c.1308C>G (p.S436=) - CACNA1E_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1534G>T r.(?) p.(Glu512*) - likely pathogenic g.181687199G>T - - - CACNA1E_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1569G>A r.(?) p.(Met523Ile) - likely benign g.181687234G>A - CACNA1E(NM_001205293.3):c.1569G>A (p.(Met523Ile)) - CACNA1E_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 14 c.1807A>C r.(?) (p.Ile603Leu) - pathogenic (dominant) g.181689397A>C g.181720261A>C - - CACNA1E_000013 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
-?/. - c.1935A>G r.(?) p.(Ala645=) - likely benign g.181689970A>G - CACNA1E(NM_001205293.2):c.1935A>G (p.A645=) - CACNA1E_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 16 c.2069G>A r.(?) (p.Gly690Asp) - pathogenic (dominant) g.181691006G>A g.181721870G>A - - CACNA1E_000014 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+?/. - c.2069G>T r.(?) p.(Gly690Val) - likely pathogenic g.181691006G>T - CACNA1E(NM_000721.4):c.2069G>T (p.G690V) - CACNA1E_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 17 c.2093T>C r.(?) (p.Phe698Ser) - pathogenic (dominant) g.181693624T>C g.181724488T>C - - CACNA1E_000015 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+?/. - c.2093T>C r.(?) p.(Phe698Ser) ACMG likely pathogenic (recessive) g.181693624T>C g.181724488T>C - - CACNA1E_000015 - - - - De novo - - - - - Johan den Dunnen
+/. 17 c.2098G>A r.(?) (p.Ala700Thr) - pathogenic (dominant) g.181693629G>A g.181724493G>A - - CACNA1E_000016 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 17 c.2101A>G r.(?) (p.Ile701Val) - pathogenic (dominant) g.181693632A>G g.181724496A>G - - CACNA1E_000017 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 17 c.2101A>G r.(?) (p.Ile701Val) - pathogenic (dominant) g.181693632A>G g.181724496A>G - - CACNA1E_000017 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 17 c.2101A>G r.(?) (p.Ile701Val) - pathogenic (dominant) g.181693632A>G g.181724496A>G - - CACNA1E_000017 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 17 c.2104G>A r.(?) (p.Ala702Thr) - pathogenic (dominant) g.181693635G>A g.181724499G>A - - CACNA1E_000017 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 17 c.2104G>A r.(?) (p.Ala702Thr) - pathogenic (dominant) g.181693635G>A g.181724499G>A - - CACNA1E_000017 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 17 c.2104G>A r.(?) (p.Ala702Thr) - pathogenic (dominant) g.181693635G>A g.181724499G>A - - CACNA1E_000017 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 17 c.2104G>A r.(?) (p.Ala702Thr) - pathogenic (dominant) g.181693635G>A g.181724499G>A - - CACNA1E_000017 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 17 c.2104G>A r.(?) (p.Ala702Thr) - pathogenic (dominant) g.181693635G>A g.181724499G>A - - CACNA1E_000017 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 17 c.2104G>A r.(?) (p.Ala702Thr) - pathogenic (dominant) g.181693635G>A g.181724499G>A - - CACNA1E_000017 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 17 c.2104G>C r.(?) (p.Ala702Pro) - pathogenic (dominant) g.181693635G>C g.181724499G>C - - CACNA1E_000018 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+?/. - c.2105C>T r.(?) p.(Ala702Val) - likely pathogenic g.181693636C>T g.181724500C>T CACNA1E(NM_001205293.3):c.2105C>T (p.A702V) - CACNA1E_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2298-16C>T r.(=) p.(=) - likely benign g.181701504C>T - CACNA1E(NM_000721.4):c.2298-16C>T - CACNA1E_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.2311C>T r.(?) p.(Arg771Cys) ACMG likely pathogenic g.181701533C>T - - - CACNA1E_000066 - - - - Unknown - - - - - Cordula Haas
-?/. - c.2477T>G r.(?) p.(Leu826Arg) - likely benign g.181701699T>G - CACNA1E(NM_001205293.1):c.2477T>G (p.(Leu826Arg)) - CACNA1E_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2480A>G r.(?) p.(Tyr827Cys) - VUS g.181701702A>G - CACNA1E(NM_001205293.3):c.2480A>G (p.(Tyr827Cys)) - CACNA1E_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2483G>A r.(?) p.(Arg828Gln) - VUS g.181701705G>A - CACNA1E(NM_001205293.1):c.2483G>A (p.(Arg828Gln)) - CACNA1E_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2485C>T r.(?) p.(Arg829Ter) - VUS g.181701707C>T g.181732571C>T CACNA1E(NM_001205293.2):c.2485C>T (p.R829*) - CACNA1E_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2485C>T r.(?) p.(Arg829*) - likely pathogenic g.181701707C>T g.181732571C>T - - CACNA1E_000001 6/22 variant reads PubMed: Helbig 2018 - - Somatic - - - - - Johan den Dunnen
?/. - c.2536G>A r.(?) p.(Glu846Lys) - VUS g.181701758G>A - CACNA1E(NM_000721.4):c.2536G>A (p.E846K) - CACNA1E_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2545C>A r.(?) p.(Arg849Ser) - likely benign g.181701767C>A - CACNA1E(NM_001205293.2):c.2545C>A (p.R849S) - CACNA1E_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2555G>A r.(?) p.(Arg852His) - likely benign g.181701777G>A - CACNA1E(NM_000721.4):c.2555G>A (p.R852H) - CACNA1E_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.2577T>A r.(?) p.(Asp859Glu) - benign g.181701799T>A g.181732663T>A CACNA1E(NM_001205293.2):c.2577T>A (p.D859E) - CACNA1E_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.2608C>T r.(?) p.(Gln870*) - likely pathogenic g.181701830C>T - - - CACNA1E_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2612G>T r.(?) p.(Arg871Met) - likely benign g.181701834G>T - CACNA1E(NM_001205293.2):c.2612G>T (p.R871M) - CACNA1E_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.2635C>T r.(?) p.(Arg879Trp) ACMG likely pathogenic (recessive) g.181701857C>T g.181732721C>T - - CACNA1E_000035 - - - - Germline - - - - - Johan den Dunnen
-?/. - c.2665C>G r.(?) p.(His889Asp) - likely benign g.181701887C>G - CACNA1E(NM_001205293.1):c.2665C>G (p.(His889Asp)) - CACNA1E_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2731C>T r.(?) p.(Arg911Trp) - VUS g.181701953C>T - CACNA1E(NM_000721.4):c.2731C>T (p.R911W), CACNA1E(NM_001205293.1):c.2731C>T (p.(Arg911Trp)) - CACNA1E_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2731C>T r.(?) p.(Arg911Trp) - likely benign g.181701953C>T - CACNA1E(NM_000721.4):c.2731C>T (p.R911W), CACNA1E(NM_001205293.1):c.2731C>T (p.(Arg911Trp)) - CACNA1E_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2756G>A r.(?) p.(Arg919Gln) - likely benign g.181701978G>A g.181732842G>A CACNA1E(NM_001205293.2):c.2756G>A (p.R919Q) - CACNA1E_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2774G>A r.(?) p.(Arg925His) - likely benign g.181701996G>A - CACNA1E(NM_000721.4):c.2774G>A (p.R925H) - CACNA1E_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2980G>A r.(?) p.(Gly994Arg) - likely benign g.181702604G>A - CACNA1E(NM_000721.4):c.2980G>A (p.G994R) - CACNA1E_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.3055G>A r.(?) p.(Val1019Met) - likely benign g.181702679G>A - CACNA1E(NM_000721.4):c.3055G>A (p.V1019M) - CACNA1E_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3184A>G r.(?) p.(Lys1062Glu) - VUS g.181702808A>G - CACNA1E(NM_001205293.1):c.3184A>G (p.(Lys1062Glu)) - CACNA1E_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3207C>T r.(?) p.(Ser1069=) - likely benign g.181702831C>T g.181733695C>T CACNA1E(NM_001205293.2):c.3207C>T (p.S1069=) - CACNA1E_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3320A>T r.(?) p.(Asp1107Val) - VUS g.181705468A>T - CACNA1E(NM_001205293.3):c.3320A>T (p.D1107V) - CACNA1E_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3352_3354del r.(?) p.(Lys1118del) - VUS g.181705500_181705502del - CACNA1E(NM_001205293.1):c.3352_3354delAAG (p.(Lys1118del)) - CACNA1E_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3482T>C r.(?) p.(Leu1161Pro) - VUS g.181706720T>C - CACNA1E(NM_000721.4):c.3482T>C (p.L1161P) - CACNA1E_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3502A>G r.(?) p.(Ile1168Val) - VUS g.181706740A>G g.181737604A>G CACNA1E(NM_000721.3):c.3502A>G (p.(Ile1168Val)) - CACNA1E_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3512C>T r.(?) p.(Ala1171Val) - VUS g.181706750C>T - CACNA1E(NM_000721.4):c.3512C>T (p.A1171V) - CACNA1E_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3540G>A r.(?) p.(=) - likely benign g.181706778G>A - CACNA1E(NM_000721.4):c.3540G>A (p.S1180=) - CACNA1E_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3746G>A r.(?) p.(Arg1249Gln) - VUS g.181721293G>A - CACNA1E(NM_000721.3):c.3746G>A (p.R1249Q) - CACNA1E_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3827A>T r.(?) p.(Lys1276Met) - VUS g.181721374A>T - CACNA1E(NM_001205293.1):c.3827A>T (p.(Lys1276Met)) - CACNA1E_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3837C>T r.(?) p.(Phe1279=) - likely benign g.181724381C>T - CACNA1E(NM_001205293.2):c.3837C>T (p.F1279=) - CACNA1E_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4030A>G r.(?) p.(Lys1344Glu) - VUS g.181725132A>G - - - CACNA1E_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.4089G>T r.(?) p.(Leu1363=) - likely benign g.181725191G>T - CACNA1E(NM_001205293.2):c.4089G>T (p.L1363=) - CACNA1E_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.4165C>T r.(?) p.(Arg1389*) - VUS g.181726098C>T g.181756962C>T - - CACNA1E_000023 inherited from unaffected father PubMed: Helbig 2018 - - Germline - - - - - Johan den Dunnen
?/. - c.4191G>A r.(?) p.(Met1397Ile) - VUS g.181726124G>A g.181756988G>A - - CACNA1E_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.4263_4271delinsG r.(?) p.(Ile1422Hisfs*8) - likely pathogenic g.181726196_181726204delinsG g.181757060_181757068delinsG - - CACNA1E_000024 parents not available PubMed: Helbig 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 30 c.4264A>T r.(?) (p.Ile1422Phe) - pathogenic (dominant) g.181726197A>T g.181757061A>T - - CACNA1E_000019 - PubMed: Helbig 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 30 c.4274C>A r.(?) (p.Thr1425Asn) - pathogenic (dominant) g.181726207C>A g.181757071C>A - - CACNA1E_000020 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. 30 c.4274C>A r.(?) (p.Thr1425Asn) - pathogenic (dominant) g.181726207C>A g.181757071C>A - - CACNA1E_000020 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.4274C>A r.(?) p.(Thr1425Asn) - pathogenic g.181726207C>A - CACNA1E(NM_000721.4):c.4274C>A (p.T1425N) - CACNA1E_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 30 c.4288G>A r.(?) (p.Gly1430Arg) - pathogenic (dominant) g.181726221G>A g.181757085G>A - - CACNA1E_000021 - PubMed: Helbig 2018 - - De novo - - - - - Johan den Dunnen
+?/. - c.4288G>A r.(?) p.(Gly1430Arg) - pathogenic g.181726221G>A g.181757085G>A - - CACNA1E_000021 - PubMed: Minardi 2020 - - De novo - - - - - Francesca Bisulli
-?/. - c.4548C>T r.(?) p.(Ala1516=) - likely benign g.181727947C>T g.181758811C>T CACNA1E(NM_001205293.2):c.4548C>T (p.A1516=) - CACNA1E_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4606-7T>C r.(=) p.(=) - benign g.181731703T>C g.181762567T>C CACNA1E(NM_001205293.2):c.4606-7T>C - CACNA1E_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4608C>T r.4608c>u p.Asn1536= - VUS g.181731712C>T g.181762576C>T - - CACNA1E_000065 - PubMed: Bournazos 2022 - - Germline - - - - - Johan den Dunnen
-?/. - c.4651A>G r.(?) p.(Ile1551Val) - likely benign g.181731755A>G - CACNA1E(NM_001205293.1):c.4651A>G (p.(Ile1551Val)) - CACNA1E_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4734C>T r.(?) p.(Phe1578=) - likely benign g.181732586C>T g.181763450C>T CACNA1E(NM_001205293.2):c.4734C>T (p.F1578=) - CACNA1E_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4808C>T r.(?) p.(Ser1603Phe) - VUS g.181732660C>T g.181763524C>T - - CACNA1E_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.4905C>T r.(?) p.(Asp1635=) - likely benign g.181740452C>T - CACNA1E(NM_001205293.2):c.4905C>T (p.D1635=) - CACNA1E_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 38 c.5159C>G r.(?) (p.Ala1720Gly) - pathogenic (dominant) g.181745256C>G g.181776120C>G - - CACNA1E_000022 no paternal DNA PubMed: Helbig 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. - c.5226C>T r.(?) p.(Asp1742=) - likely benign g.181745323C>T - CACNA1E(NM_001205293.2):c.5226C>T (p.D1742=) - CACNA1E_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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