Full data view for gene TBC1D24

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

187 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-3491G>A VUS r.(?) p.(=) Unknown g.2521796G>A - NTN3(NM_006181.2):c.94G>A (p.(Asp32Asn)) - NTN3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3440_-3387del VUS r.(?) p.(=) Unknown g.2521847_2521900del - NTN3(NM_006181.2):c.142_195del (p.(Leu49_Ala66del)) - NTN3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3364G>C likely benign r.(?) p.(=) Unknown g.2521923G>C - NTN3(NM_006181.2):c.221G>C (p.(Arg74Pro)) - NTN3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3165T>A VUS r.(?) p.(=) Unknown g.2522122T>A - NTN3(NM_006181.2):c.420T>A (p.(His140Gln)) - TBC1D24_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3107C>T likely benign r.(?) p.(=) Unknown g.2522180C>T - NTN3(NM_006181.2):c.478C>T (p.(Arg160Cys)) - NTN3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2965G>A likely benign r.(?) p.(=) Unknown g.2522322G>A - NTN3(NM_006181.2):c.620G>A (p.(Ser207Asn)) - NTN3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2964C>A likely benign r.(?) p.(=) Unknown g.2522323C>A - NTN3(NM_006181.2):c.621C>A (p.(Ser207Arg)) - NTN3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2899C>G likely benign r.(?) p.(=) Unknown g.2522388C>G - NTN3(NM_006181.2):c.686C>G (p.(Thr229Arg)) - TBC1D24_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2849_-2830del VUS r.(?) p.(=) Unknown g.2522438_2522457del - NTN3(NM_006181.2):c.736_755del (p.(Ala246ArgfsTer32)) - NTN3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-2825_-2818del VUS r.(?) p.(=) Unknown g.2522462_2522469del - NTN3(NM_006181.2):c.760_767del (p.(Arg254ValfsTer28)) - NTN3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-2814_-2805del VUS r.(?) p.(=) Unknown g.2522473_2522482del - NTN3(NM_006181.2):c.771_780del (p.(Cys257TrpfsTer13)) - NTN3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-2801_-2772del VUS r.(?) p.(=) Unknown g.2522486_2522515del - NTN3(NM_006181.2):c.783_812del (p.(Ser262_His271del)) - NTN3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2561G>A likely benign r.(?) p.(=) Unknown g.2522726G>A - NTN3(NM_006181.2):c.953G>A (p.(Arg318His)) - NTN3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2516G>A likely benign r.(?) p.(=) Unknown g.2522771G>A - NTN3(NM_006181.2):c.998G>A (p.(Arg333His)) - TBC1D24_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1500_-1489del VUS r.(?) p.(=) Unknown g.2523787_2523798del - NTN3(NM_006181.2):c.1414_1425del (p.(Arg473_Ala476del)) - NTN3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-78G>A likely benign r.(?) p.(=) Unknown g.2546072G>A - TBC1D24(NM_001199107.1):c.-78G>A - TBC1D24_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-7C>T likely benign r.(?) p.(=) Unknown g.2546143C>T - TBC1D24(NM_001199107.1):c.-7C>T - TBC1D24_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.22T>C likely benign r.(?) p.(Cys8Arg) Unknown g.2546171T>C - TBC1D24(NM_001199107.1):c.22T>C (p.Cys8Arg) - TBC1D24_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.22T>C likely benign r.(?) p.(Cys8Arg) Unknown g.2546171T>C - TBC1D24(NM_001199107.1):c.22T>C (p.Cys8Arg) - TBC1D24_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.58C>T - r.(?) p.(Gln20*) Maternal (confirmed) g.2546207C>T g.2496206C>T - - TBC1D24_000019 - PubMed: Campeau et al - - Germline - - pcampeau 0 pcampeau DNA SEQ - - DOORS - PubMed: Campeau et al 5a - - - - - 0 - - 1 Philippe Campeau
?/? 2 c.58C>T - r.(?) p.(Gln20*) Maternal (confirmed) g.2546207C>T g.2496206C>T - - TBC1D24_000019 - PubMed: Campeau et al - - Germline - - pcampeau 0 pcampeau DNA SEQ - - DOORS - PubMed: Campeau et al 5b - - - - - 0 - - 1 Philippe Campeau
?/. - c.74A>G VUS r.(?) p.(Lys25Arg) Unknown g.2546223A>G - TBC1D24(NM_001199107.1):c.74A>G (p.K25R) - TBC1D24_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.116C>T - r.(?) p.(Ala39Val) Paternal (confirmed) g.2546265C>T - - - TBC1D24_000070 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (incl. a list of genes analysed) - - - - - - - - - - - - - -
+?/. - c.116C>T - r.(?) p.(Ala39Val) Unknown g.2546265C>T - - - TBC1D24_000070 - - - - Somatic - - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
+?/. - c.116C>T - r.(?) p.(Ala39Val) Maternal (confirmed) g.2546265C>T - - - TBC1D24_000070 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.116C>T - r.(?) p.(Ala39Val) Maternal (confirmed) g.2546265C>T - - - TBC1D24_000070 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.116C>T - r.(?) p.(Ala39Val) Paternal (confirmed) g.2546265C>T - - - TBC1D24_000070 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.116C>T - r.(?) p.(Ala39Val) Maternal (confirmed) g.2546265C>T - - - TBC1D24_000070 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
+?/. - c.116C>T - r.(?) p.(Ala39Val) Maternal (confirmed) g.2546265C>T - - - TBC1D24_000070 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
?/? 2 c.118C>T - r.(?) p.(Arg40Cys) Paternal (confirmed) g.2546267C>T g.2496266C>T - - TBC1D24_000008 - PubMed: Campeau et al - - Germline yes - pcampeau 0 - DNA SEQ - - DOORS - PubMed: Campeau et al 1 - - - - - 0 - - 1 Philippe Campeau
?/. - c.118C>T VUS r.(?) p.(Arg40Cys) Unknown g.2546267C>T - TBC1D24(NM_001199107.1):c.118C>T (p.(Arg40Cys)) - TBC1D24_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.119G>A - r.(?) p.(Arg40His) Paternal (confirmed) g.2546268G>A - - - TBC1D24_000071 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
+?/. - c.119G>A - r.(?) p.(Arg40His) Paternal (confirmed) g.2546268G>A - - - TBC1D24_000071 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
?/? 2 c.119G>T - r.(?) p.(Arg40Leu) Both (homozygous) g.2546268G>T g.2496267G>T - - TBC1D24_000012 - PubMed: Campeau et al - - Germline - - pcampeau 0 - DNA SEQ - - DOORS - PubMed: Campeau et al 8 - - - - - 0 - - 1 Philippe Campeau
+?/. - c.139A>G - r.(?) p.(Ser47Gly) Paternal (inferred) g.2546288A>G - - - TBC1D24_000072 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.151C>T - r.(?) p.(Arg51Trp) Paternal (confirmed) g.2546300C>T - - - TBC1D24_000073 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
./. - c.169C>T - r.(?) p.(Arg57Cys) Unknown g.2546318C>T g.2496317C>T - - TBC1D24_000024 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs202162520 Germline - 2/194 cases RE - 0 - DNA SEQ-NG - - epilepsy, Rolandic S_619:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - 0 - - 1 Dheeraj Bobbili
./. - c.169C>T - r.(?) p.(Arg57Cys) Unknown g.2546318C>T g.2496317C>T - - TBC1D24_000024 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs202162520 Germline - 1/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_562:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
./. - c.169C>T - r.(?) p.(Arg57Cys) Unknown g.2546318C>T g.2496317C>T - - TBC1D24_000024 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs202162520 Germline - 2/194 cases RE - 0 - DNA SEQ-NG - - epilepsy, Rolandic S_569:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - 0 - - 1 Dheeraj Bobbili
?/. - c.169C>T VUS r.(?) p.(Arg57Cys) Unknown g.2546318C>T - TBC1D24(NM_001199107.1):c.169C>T (p.R57C) - TBC1D24_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.169C>T likely benign r.(?) p.(Arg57Cys) Unknown g.2546318C>T - TBC1D24(NM_001199107.1):c.169C>T (p.R57C) - TBC1D24_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.169C>T likely benign r.(?) p.(Arg57Cys) Unknown g.2546318C>T - TBC1D24(NM_001199107.1):c.169C>T (p.R57C) - TBC1D24_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.178C>T - r.(?) p.(Arg60Trp) Unknown g.2546327C>T g.2496326C>T - - TBC1D24_000025 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs373914077 Germline - 1/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_285:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
-?/. - c.179G>A likely benign r.(?) p.(Arg60Gln) Unknown g.2546328G>A - TBC1D24(NM_001199107.1):c.179G>A (p.R60Q) - TBC1D24_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.192C>T likely benign r.(?) p.(=) Unknown g.2546341C>T - TBC1D24(NM_001199107.1):c.192C>T (p.C64=) - TBC1D24_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.194G>T - r.(?) p.(Arg65Leu) Both (homozygous) g.2546343G>T g.2496342G>T - - TBC1D24_000023 - - - - Germline yes - - 0 - DNA SEQ-NG-I blood - DFNB-86 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - no Israel Arab - 0 - - 3 Zippi Brownstein
+?/. 2 c.194G>T - r.(?) p.(Arg65Leu) Both (homozygous) g.2546343G>T g.2496342G>T - - TBC1D24_000023 - - ClinVar-000225038.1 rs878853232 Germline yes 0/220 chromosomes - 0 - DNA SEQ-NG blood - DFNB-86 - - - M yes - - - 0 - - 1 Nada Danial-Farran
?/. - c.197C>T VUS r.(?) p.(Thr66Met) Unknown g.2546346C>T - TBC1D24(NM_001199107.1):c.197C-T (p.Thr66Met) - TBC1D24_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.204G>A likely benign r.(?) p.(=) Unknown g.2546353G>A - TBC1D24(NM_001199107.1):c.204G>A (p.T68=) - TBC1D24_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.204G>A likely benign r.(?) p.(=) Unknown g.2546353G>A - TBC1D24(NM_001199107.1):c.204G>A (p.T68=) - TBC1D24_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.204G>A likely benign r.(?) p.(=) Unknown g.2546353G>A - TBC1D24(NM_001199107.1):c.204G>A (p.T68=) - TBC1D24_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207T>C likely benign r.(?) p.(=) Unknown g.2546356T>C - TBC1D24(NM_001199107.1):c.207T>C (p.=) - TBC1D24_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.208G>T - r.(?) p.(Asp70Tyr) Unknown g.2546357G>T g.2496356G>T - - TBC1D24_000015 - PubMed: Rehman et al., 2014 - - Germline - - - 0 - DNA SEQ - - DFNB-86 - PubMed: Rehman et al., 2014 - F yes Pakistan - - 0 - - 1 Philippe Campeau
+?/. - c.229_240del - r.(?) p.(Ile81_Lys84del) Paternal (confirmed) g.2546378_2546389del - - - TBC1D24_000074 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del) Paternal (confirmed) g.2546390_2546401del - - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del) Maternal (confirmed) g.2546390_2546401del - - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del) Maternal (confirmed) g.2546390_2546401del - - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del) Maternal (confirmed) g.2546390_2546401del - - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del) Maternal (confirmed) g.2546390_2546401del - - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del) Paternal (confirmed) g.2546390_2546401del - - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del) Paternal (confirmed) g.2546390_2546401del - - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del) Maternal (confirmed) g.2546390_2546401del - - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del) Maternal (confirmed) g.2546390_2546401del - - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del) Maternal (confirmed) g.2546390_2546401del - - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
?/. - c.294C>A VUS r.(?) p.(Asn98Lys) Unknown g.2546443C>A - TBC1D24(NM_001199107.1):c.294C>A (p.(Asn98Lys)) - TBC1D24_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.313T>C - r.(?) p.(Cys105Arg) Unknown g.2546462T>C g.2496461T>C - - TBC1D24_000021 - - - - Unknown ? - - 0 - DNA SEQ - - DOORS - - - M no Australia - - 0 - - 1 Philippe Campeau
./. - c.325C>T - r.(?) p.(Arg109Cys) Unknown g.2546474C>T g.2496473C>T - - TBC1D24_000026 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs372337277 Germline - 1/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_478:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
?/? 2 c.328G>A - r.(?) p.(Gly110Ser) Maternal (confirmed) g.2546477G>A g.2496476G>A - - TBC1D24_000013 - PubMed: Campeau et al - - Germline - - pcampeau 0 - DNA SEQ - - DOORS - PubMed: Campeau et al 9 - - - - - 0 - - 1 Philippe Campeau
./. - c.344G>T - r.(?) p.(Arg115Leu) Unknown g.2546493G>T g.2496492G>T - - TBC1D24_000027 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_63:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
-?/. - c.384C>T likely benign r.(?) p.(=) Unknown g.2546533C>T - TBC1D24(NM_001199107.1):c.384C>T (p.I128=) - TBC1D24_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.404C>T - r.(?) p.(Pro135Leu) Maternal (confirmed) g.2546553C>T - - - TBC1D24_000076 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
+?/. - c.404C>T - r.(?) p.(Pro135Leu) Maternal (confirmed) g.2546553C>T - - - TBC1D24_000076 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
?/. - c.409G>A VUS r.(?) p.(Val137Met) Unknown g.2546558G>A - TBC1D24(NM_001199107.1):c.409G>A (p.V137M) - TBC1D24_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.418C>G VUS r.(?) p.(Leu140Val) Unknown g.2546567C>G - TBC1D24(NM_001199107.1):c.418C>G (p.L140V) - TBC1D24_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.431A>G - r.(?) p.(Tyr144Cys) Maternal (confirmed) g.2546580A>G - - - TBC1D24_000077 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
-?/. - c.438C>T likely benign r.(?) p.(=) Unknown g.2546587C>T - TBC1D24(NM_001199107.1):c.438C>T (p.I146=) - TBC1D24_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.439G>C - r.(?) p.(Asp147His) Unknown g.2546588G>C g.2496587G>C - - TBC1D24_000004 - PubMed: Falace A et al. 2010 - - Germline - - - 0 - DNA SEQ - - FIME - PubMed: Falace A et al 2010 Falace A et al. Am J Hum Genet 2010; 87(3): 365-70. - - - Italian - 0 - - 1 Philippe Campeau
+?/. - c.442G>A - r.(?) p.(Glu148Lys) Paternal (confirmed) g.2546591G>A - - - TBC1D24_000078 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
?/. - c.457G>A VUS r.(?) p.(Glu153Lys) Unknown g.2546606G>A - TBC1D24(NM_020705.2):c.457G>A (p.Glu153Lys) - TBC1D24_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.457G>A likely pathogenic r.(?) p.(Glu153Lys) Unknown g.2546606G>A - TBC1D24(NM_020705.2):c.457G>A (p.Glu153Lys) - TBC1D24_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.457G>T - r.(?) p.(Glu153*) Paternal (confirmed) g.2546606G>T - - - TBC1D24_000079 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
+?/? 2 c.468C>A - r.(?) p.(Cys156*) Maternal (confirmed) g.2546617C>A g.2496616C>A - - TBC1D24_000002 - - - - Unknown - - - - - DNA SEQ-NG - - - - - - F - ? (unknown) - - - - - 1 Laurent Villard
+?/? 2 c.533C>T likely pathogenic (dominant) r.(?) p.(Ser178Leu) Parent #1 g.2546682C>T g.2496681C>T - - TBC1D24_000017 - PubMed: Azaiez 2014 - - Germline yes - - 0 - DNA SEQ - - HL 24729539-Fam PubMed: Azaiez 2014 4-generation family, 13 affecteds (5F, 8M) F;M no United States Caucasian - 0 - - 13 Hela Azaiez
+?/? 2 c.533C>T likely pathogenic (dominant) r.(?) p.(Ser178Leu) Parent #1 g.2546682C>T g.2496681C>T - - TBC1D24_000017 - PubMed: Zhang 2014 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES DFNA - PubMed: Zhang 2014 4-generation family, 11 affected (5F, 6M) F;M no China Chinese - 0 - - 11 Tao Yang
-?/. - c.546G>A likely benign r.(?) p.(=) Unknown g.2546695G>A - TBC1D24(NM_001199107.1):c.546G>A (p.T182=) - TBC1D24_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.619C>T disease causing r.(?) p.(Gln207*) Unknown g.2546768C>T - c.619C>T - TBC1D24_000080 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte Jing Zhang - - - - - - - - - - - - - -
+?/. - c.619C>T - r.(?) p.(Gln207*) Paternal (inferred) g.2546768C>T - - - TBC1D24_000080 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
?/. - c.622_639del VUS r.(?) p.(Val208_Gln213del) Unknown g.2546771_2546788del - TBC1D24(NM_001199107.1):c.622_639delGTCTATGCGGACTGGCAG (p.V208_Q213del) - TBC1D24_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.641G>A - r.(?) p.(Arg214His) Unknown g.2546790G>A g.2496789G>A - - TBC1D24_000018 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200324356 Germline - 4/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_114:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
./. - c.641G>A - r.(?) p.(Arg214His) Unknown g.2546790G>A g.2496789G>A - - TBC1D24_000018 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200324356 Germline - 4/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_20:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
./. - c.641G>A - r.(?) p.(Arg214His) Unknown g.2546790G>A g.2496789G>A - - TBC1D24_000018 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200324356 Germline - 4/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_307:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
./. - c.641G>A - r.(?) p.(Arg214His) Unknown g.2546790G>A g.2496789G>A - - TBC1D24_000018 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200324356 Germline - 4/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_561:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
+?/. - c.679C>T - r.(?) p.(Arg227Trp) Paternal (confirmed) g.2546828C>T - - - TBC1D24_000081 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
+?/? 2 c.686T>C - r.(?) p.(Phe229Ser) Paternal (confirmed) g.2546835T>C g.2496834T>C - - TBC1D24_000001 - - - - Unknown - - - - - DNA SEQ-NG - - - - - - F - ? (unknown) - - - - - 1 Laurent Villard
-?/. - c.702G>A likely benign r.(?) p.(=) Unknown g.2546851G>A - TBC1D24(NM_001199107.1):c.702G>A (p.V234=) - TBC1D24_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.724C>T - r.(?) p.(Arg242Cys) Maternal (confirmed) g.2546873C>T g.2496872C>T - - TBC1D24_000007 - PubMed: Campeau et al - - Germline - - pcampeau 0 - DNA SEQ - - DOORS - PubMed: Campeau et al 1 - - - - - 0 - - 1 Philippe Campeau
?/? 2 c.724C>T - r.(?) p.(Arg242Cys) Both (homozygous) g.2546873C>T g.2496872C>T - - TBC1D24_000007 - PubMed: Campeau et al - - Germline - - pcampeau 0 - DNA SEQ - - DOORS - PubMed: Campeau et al 2a - - - - - 0 - - 1 Philippe Campeau
?/? 2 c.724C>T - r.(?) p.(Arg242Cys) Both (homozygous) g.2546873C>T g.2496872C>T - - TBC1D24_000007 - PubMed: Campeau et al - - Germline - - pcampeau 0 - DNA SEQ - - DOORS - PubMed: Campeau et al 2b - - - - - 0 - - 1 Philippe Campeau
?/? 2 c.724C>T - r.(?) p.(Arg242Cys) Both (homozygous) g.2546873C>T g.2496872C>T - - TBC1D24_000007 - PubMed: Campeau et al - - Germline - - pcampeau 0 - DNA SEQ - - DOORS - PubMed: Campeau et al 4 - - - - - 0 - - 1 Philippe Campeau
?/? 2 c.724C>T - r.(?) p.(Arg242Cys) Both (homozygous) g.2546873C>T g.2496872C>T - - TBC1D24_000007 - PubMed: Campeau et al - - Germline - - pcampeau 0 - DNA SEQ - - DOORS - PubMed: Campeau et al 7 - - - - - 0 - - 1 Philippe Campeau
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