Full data view for gene TBC1D24

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

144 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.-78G>A likely benign r.(=) p.(=) Unknown g.2546072G>A - TBC1D24:c.-78G>A - TBC1D24_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-7C>T likely benign r.(=) p.(=) Unknown g.2546143C>T - TBC1D24:c.-7C>T - TBC1D24_000031 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.22T>C likely benign r.(?) p.(Cys8Arg) Unknown g.2546171T>C - TBC1D24:NM_001199107.1:c.22T>C (Cys8Arg) - TBC1D24_000066 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 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:c.74A>G (K25R) - TBC1D24_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - 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.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.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.192C>T likely benign r.(=) p.(=) Unknown g.2546341C>T - TBC1D24:c.192C>T (=) - TBC1D24_000033 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - 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 (Thr66Met) - TBC1D24_000067 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.204G>A likely benign r.(=) p.(=) Unknown g.2546353G>A - TBC1D24:c.204G>A (=) - TBC1D24_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.204G>A likely benign r.(=) p.(=) Unknown g.2546353G>A - TBC1D24:c.204G>A (=) - TBC1D24_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.207T>C likely benign r.(=) p.(=) Unknown g.2546356T>C - TBC1D24:c.207T>C (=) - TBC1D24_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - 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 likely benign r.(?) p.(Asn98Lys) Unknown g.2546443C>A - TBC1D24:NM_001199107.1:c.294C>A, NM_020705.2:c.294C>A - TBC1D24_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - 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.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.431A>G - r.(?) p.(Tyr144Cys) Maternal (confirmed) g.2546580A>G - - - TBC1D24_000077 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
?/? 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>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.535dup pathogenic r.(?) p.(Ser179Phefs*52) Unknown g.2546684dup - TBC1D24:NM_020705.2:c.535dup (Ser179fs) - TBC1D24_000068 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.546G>A likely benign r.(=) p.(=) Unknown g.2546695G>A - TBC1D24:c.546G>A (T182=) - TBC1D24_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - 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:c.622_639delGTCTATGCGGACTGGCAG (V208_Q213del) - TBC1D24_000038 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - 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.641G>A likely benign r.(?) p.(Arg214His) Unknown g.2546790G>A - TBC1D24:c.641G>A (R214H) - TBC1D24_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.641G>A benign r.(?) p.(Arg214His) Unknown g.2546790G>A - TBC1D24:NM_001199107.1:c.641G>A (Arg214His) - TBC1D24_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - 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:c.702G>A (V234=) - TBC1D24_000039 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - 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
?/? 2 c.724C>T - r.(?) p.(Arg242Cys) Paternal (confirmed) g.2546873C>T g.2496872C>T - - TBC1D24_000007 - PubMed: Campeau et al - - Germline - - pcampeau 0 - DNA SEQ - - DOORS - PubMed: Campeau et al 5a - - - - - 0 - - 1 Philippe Campeau
?/? 2 c.724C>T - r.(?) p.(Arg242Cys) Paternal (confirmed) g.2546873C>T g.2496872C>T - - TBC1D24_000007 - PubMed: Campeau et al - - Germline - - pcampeau 0 - DNA SEQ - - DOORS - PubMed: Campeau et al 5b - - - - - 0 - - 1 Philippe Campeau
+?/. - c.725G>A - r.(?) p.(Arg242His) Paternal (confirmed) g.2546874G>A - - - TBC1D24_000082 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
?/? 2 c.751T>C - r.(?) p.(Phe251Leu) Both (homozygous) g.2546900T>C g.2496899T>C - - TBC1D24_000003 - PubMed: Corbett MA et al, 2010 - - Germline yes - - 0 - DNA SEQ - - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy - - - - - - Arab-Israeli - 0 - - 1 Philippe Campeau
-?/. - c.821G>A likely benign r.(?) p.(Arg274Lys) Unknown g.2546970G>A - TBC1D24:c.821G>A (R274K) - TBC1D24_000040 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.866C>T VUS r.(?) p.(Ala289Val) Unknown g.2547015C>T - TBC1D24:c.866C>T (A289V) - TBC1D24_000041 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.866C>T - r.(?) p.(Ala289Val) Unknown g.2547015C>T - - - TBC1D24_000041 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte Jing Zhang - - - - - - - - - - - - - -
+?/. - c.866C>T - r.(?) p.(Ala289Val) Maternal (confirmed) g.2547015C>T - - - TBC1D24_000041 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
?/? 2 c.878G>C - r.(?) p.(Arg293Pro) Both (homozygous) g.2547027G>C g.2497026G>C - - TBC1D24_000016 - PubMed: Rehman et al., 2014 - - Germline yes - - 0 - DNA SEQ - - DFNB-86 - PubMed: Rehman et al., 2014 - M yes Pakistan - - 0 - - 1 Philippe Campeau
-?/. - c.885C>G likely benign r.(?) p.(Phe295Leu) Unknown g.2547034C>G - TBC1D24:c.885C>G (F295L) - TBC1D24_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.885C>G benign r.(?) p.(Phe295Leu) Unknown g.2547034C>G - TBC1D24:c.885C>G (F295L) - TBC1D24_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.885C>G likely benign r.(?) p.(Phe295Leu) Unknown g.2547034C>G - TBC1D24:c.885C>G (F295L) - TBC1D24_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.965+7C>T likely benign r.(=) p.(=) Unknown g.2547121C>T - TBC1D24:c.965+7C>T - TBC1D24_000043 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.965+40G>A likely benign r.(=) p.(=) Unknown g.2547154G>A - TBC1D24:c.965+40G>A - TBC1D24_000044 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.969_970delGT - r.(?) p.(Ser324Thrfs*3) Both (homozygous) g.2547714_2547715delGT g.2497713_2497714delGT - - TBC1D24_000006 - PubMed: Guven A et al. 2013 - - Germline yes - - 0 - DNA SEQ - - epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy - PubMed: Guven A 2013 - - - - Turkish - 0 - - 1 Philippe Campeau
-?/. - c.983+75T>G likely benign r.(=) p.(=) Unknown g.2547803T>G - TBC1D24:c.983+75T>G - TBC1D24_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.983+95G>A likely benign r.(=) p.(=) Unknown g.2547823G>A - TBC1D24:c.983+95G>A - TBC1D24_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.983+139C>T benign r.(=) p.(=) Unknown g.2547867C>T - TBC1D24:c.983+139C>T - TBC1D24_000047 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.999G>T - r.(?) p.(Leu333Phe) Paternal (confirmed) g.2548254G>T g.2498253G>T - - TBC1D24_000014 - PubMed: Campeau et al - - Germline - - pcampeau 0 - DNA SEQ - - DOORS - PubMed: Campeau et al 9 - - - - - 0 - - 1 Philippe Campeau
-?/. - c.1002C>T likely benign r.(=) p.(=) Unknown g.2548257C>T - TBC1D24:c.1002C>T (=) - TBC1D24_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1002C>T likely benign r.(=) p.(=) Unknown g.2548257C>T - TBC1D24:c.1002C>T (=) - TBC1D24_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1008del pathogenic r.(?) p.(His336Glnfs*12) Unknown g.2548263del - TBC1D24:c.1008delT (H336Qfs*12) - TBC1D24_000049 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1008del VUS r.(?) p.(His336Glnfs*12) Unknown g.2548263del - TBC1D24:NM_001199107.1:c.1008del, NM_020705.2:c.990del - TBC1D24_000049 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.1008delT - r.(?) p.(His336Glnfs*12) Maternal (confirmed) g.2548263delT g.2498262delT - - TBC1D24_000009 - PubMed: Campeau et al - - Germline yes - pcampeau 0 - DNA SEQ - - DOORS - PubMed: Campeau et al 3 - - - - - 0 - - 1 Philippe Campeau
?/? 4 c.1008delT - r.(?) p.(His336Glnfs*12) Maternal (confirmed) g.2548263delT g.2498262delT - - TBC1D24_000009 - PubMed: Campeau et al - - Germline - - pcampeau 0 - DNA SEQ - - DOORS - PubMed: Campeau et al 6 - - - - - 0 - - 1 Philippe Campeau
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