Full data view for gene TBC1D24

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-3491G>A r.(?) p.(=) Unknown - VUS g.2521796G>A g.2471795G>A NTN3(NM_006181.2):c.94G>A (p.(Asp32Asn)) - NTN3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3440_-3387del r.(?) p.(=) Unknown - VUS g.2521847_2521900del g.2471846_2471899del NTN3(NM_006181.2):c.142_195del (p.(Leu49_Ala66del)) - NTN3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-2849_-2830del r.(?) p.(=) Unknown - VUS g.2522438_2522457del g.2472437_2472456del NTN3(NM_006181.2):c.736_755del (p.(Ala246ArgfsTer32)) - NTN3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-2825_-2818del r.(?) p.(=) Unknown - VUS g.2522462_2522469del g.2472461_2472468del NTN3(NM_006181.2):c.760_767del (p.(Arg254ValfsTer28)) - NTN3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-2814_-2805del r.(?) p.(=) Unknown - VUS g.2522473_2522482del g.2472472_2472481del NTN3(NM_006181.2):c.771_780del (p.(Cys257TrpfsTer13)) - NTN3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-2801_-2772del r.(?) p.(=) Unknown - VUS g.2522486_2522515del g.2472485_2472514del NTN3(NM_006181.2):c.783_812del (p.(Ser262_His271del)) - NTN3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-1500_-1489del r.(?) p.(=) Unknown - VUS g.2523787_2523798del g.2473786_2473797del NTN3(NM_006181.2):c.1414_1425del (p.(Arg473_Ala476del)) - NTN3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-78G>A r.(?) p.(=) Unknown - likely benign g.2546072G>A g.2496071G>A TBC1D24(NM_001199107.2):c.-78G>A - TBC1D24_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-7C>T r.(?) p.(=) Unknown - likely benign g.2546143C>T g.2496142C>T TBC1D24(NM_001199107.2):c.-7C>T - TBC1D24_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-7C>T r.(?) p.(=) Unknown - likely benign g.2546143C>T g.2496142C>T TBC1D24(NM_001199107.2):c.-7C>T - TBC1D24_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22T>C r.(?) p.(Cys8Arg) Unknown - likely benign g.2546171T>C g.2496170T>C - - TBC1D24_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.58C>T r.(?) p.(Gln20*) Maternal (confirmed) - VUS 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) - VUS 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 r.(?) p.(Lys25Arg) Unknown - VUS g.2546223A>G g.2496222A>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) - likely pathogenic g.2546265C>T g.2496264C>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 - likely pathogenic g.2546265C>T g.2496264C>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) - likely pathogenic g.2546265C>T g.2496264C>T - - TBC1D24_000070 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.116C>T r.(?) p.(Ala39Val) Maternal (confirmed) - likely pathogenic g.2546265C>T g.2496264C>T - - TBC1D24_000070 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.116C>T r.(?) p.(Ala39Val) Paternal (confirmed) - likely pathogenic g.2546265C>T g.2496264C>T - - TBC1D24_000070 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.116C>T r.(?) p.(Ala39Val) Maternal (confirmed) - likely pathogenic g.2546265C>T g.2496264C>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) - likely pathogenic g.2546265C>T g.2496264C>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) - VUS 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 r.(?) p.(Arg40Cys) Unknown - VUS g.2546267C>T g.2496266C>T - - TBC1D24_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.119G>A r.(?) p.(Arg40His) Paternal (confirmed) - likely pathogenic g.2546268G>A g.2496267G>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) - likely pathogenic g.2546268G>A g.2496267G>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) Parent #1 - pathogenic (recessive) g.2546268G>A g.2496267G>A - - TBC1D24_000071 - PubMed: Hong 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat13 PubMed: Hong 2020 - M - Taiwan - - 0 - - 1 Johan den Dunnen
?/? 2 c.119G>T r.(?) p.(Arg40Leu) Both (homozygous) - VUS 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) - likely pathogenic g.2546288A>G g.2496287A>G - - TBC1D24_000072 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.151C>T r.(?) p.(Arg51Trp) Paternal (confirmed) - likely pathogenic g.2546300C>T g.2496299C>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 - VUS 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 - VUS 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 - VUS 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 r.(?) p.(Arg57Cys) Unknown - VUS g.2546318C>T g.2496317C>T TBC1D24(NM_001199107.1):c.169C>T (p.R57C, p.(Arg57Cys)), TBC1D24(NM_001199107.2):c.169C>T (p.R57C) - TBC1D24_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.169C>T r.(?) p.(Arg57Cys) Unknown - likely benign g.2546318C>T g.2496317C>T TBC1D24(NM_001199107.1):c.169C>T (p.R57C, p.(Arg57Cys)), TBC1D24(NM_001199107.2):c.169C>T (p.R57C) - TBC1D24_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.169C>T r.(?) p.(Arg57Cys) Unknown - likely benign g.2546318C>T g.2496317C>T TBC1D24(NM_001199107.1):c.169C>T (p.R57C, p.(Arg57Cys)), TBC1D24(NM_001199107.2):c.169C>T (p.R57C) - TBC1D24_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.169C>T r.(?) p.(Arg57Cys) Unknown - likely benign g.2546318C>T g.2496317C>T TBC1D24(NM_001199107.1):c.169C>T (p.R57C, p.(Arg57Cys)), TBC1D24(NM_001199107.2):c.169C>T (p.R57C) - TBC1D24_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.178C>T r.(?) p.(Arg60Trp) Unknown - VUS 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.178C>T r.(?) p.(Arg60Trp) Unknown - VUS g.2546327C>T g.2496326C>T TBC1D24(NM_001199107.1):c.178C>T (p.R60W), TBC1D24(NM_001199107.2):c.178C>T (p.R60W) - TBC1D24_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.178C>T r.(?) p.(Arg60Trp) Unknown - VUS g.2546327C>T - TBC1D24(NM_001199107.1):c.178C>T (p.R60W), TBC1D24(NM_001199107.2):c.178C>T (p.R60W) - TBC1D24_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.179G>A r.(?) p.(Arg60Gln) Unknown - likely benign g.2546328G>A g.2496327G>A TBC1D24(NM_001199107.1):c.179G>A (p.R60Q) - TBC1D24_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.192C>T r.(?) p.(Cys64=) Unknown - likely benign g.2546341C>T g.2496340C>T TBC1D24(NM_001199107.2):c.192C>T (p.C64=) - TBC1D24_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.193C>T r.(?) p.(Arg65Cys) Unknown - likely pathogenic g.2546342C>T - - - TBC1D24_000132 - - - rs750421791 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.194G>T r.(?) p.(Arg65Leu) Both (homozygous) - pathogenic g.2546343G>T g.2496342G>T - - TBC1D24_000023 - - - - Germline yes - - 0 - DNA SEQ-NG-I blood - DFNB86 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - no Israel Arab - 0 - - 3 Zippi Brownstein
+?/. 2 c.194G>T r.(?) p.(Arg65Leu) Both (homozygous) - likely pathogenic g.2546343G>T g.2496342G>T - - TBC1D24_000023 - - ClinVar-000225038.1 rs878853232 Germline yes 0/220 chromosomes - 0 - DNA SEQ-NG blood - DFNB86 - - - M yes - - - 0 - - 1 Nada Danial-Farran
?/. - c.197C>T r.(?) p.(Thr66Met) Unknown - VUS g.2546346C>T g.2496345C>T - - TBC1D24_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.204G>A r.(?) p.(Thr68=) Unknown - likely benign g.2546353G>A g.2496352G>A TBC1D24(NM_001199107.1):c.204G>A (p.T68=), TBC1D24(NM_001199107.2):c.204G>A (p.T68=) - TBC1D24_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.204G>A r.(?) p.(Thr68=) Unknown - likely benign g.2546353G>A g.2496352G>A TBC1D24(NM_001199107.1):c.204G>A (p.T68=), TBC1D24(NM_001199107.2):c.204G>A (p.T68=) - TBC1D24_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.204G>A r.(?) p.(Thr68=) Unknown - likely benign g.2546353G>A g.2496352G>A TBC1D24(NM_001199107.1):c.204G>A (p.T68=), TBC1D24(NM_001199107.2):c.204G>A (p.T68=) - TBC1D24_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207T>C r.(?) p.(Pro69=) Unknown - likely benign g.2546356T>C g.2496355T>C TBC1D24(NM_001199107.1):c.207T>C (p.P69=) - TBC1D24_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.208G>T r.(?) p.(Asp70Tyr) Unknown - VUS g.2546357G>T g.2496356G>T - - TBC1D24_000015 - PubMed: Rehman et al., 2014 - - Germline - - - 0 - DNA SEQ - - DFNB86 - PubMed: Rehman et al., 2014 - F yes Pakistan - - 0 - - 1 Philippe Campeau
-?/. - c.225C>T r.(?) p.(Ser75=) Unknown - likely benign g.2546374C>T g.2496373C>T TBC1D24(NM_001199107.1):c.225C>T (p.S75=) - TBC1D24_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232G>A r.(?) p.(Val78Met) Unknown - VUS g.2546381G>A - TBC1D24(NM_001199107.1):c.232G>A (p.V78M) - TBC1D24_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) Paternal (confirmed) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) Paternal (confirmed) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - 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) Maternal (confirmed) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) Maternal (confirmed) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - 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) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - 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) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) Paternal (confirmed) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000075 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del) Paternal (confirmed) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - 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) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - 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) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - 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) - likely pathogenic g.2546390_2546401del g.2496389_2496400del - - 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) Parent #2 - pathogenic (recessive) g.2546390_2546401del g.2496389_2496400del - - TBC1D24_000074 - PubMed: Hong 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat2 PubMed: Hong 2020 - M - Taiwan - - 0 - - 1 Johan den Dunnen
?/. - c.294C>A r.(?) p.(Asn98Lys) Unknown - VUS g.2546443C>A g.2496442C>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.317T>C r.(?) p.(Leu106Pro) Unknown - VUS g.2546466T>C - TBC1D24(NM_001199107.1):c.317T>C (p.L106P) - TBC1D24_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.325C>T r.(?) p.(Arg109Cys) Unknown - VUS 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
?/. - c.325C>T r.(?) p.(Arg109Cys) Unknown - VUS g.2546474C>T g.2496473C>T TBC1D24(NM_001199107.2):c.325C>T (p.R109C) - TBC1D24_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.328G>A r.(?) p.(Gly110Ser) Maternal (confirmed) - VUS 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 - VUS 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 r.(?) p.(Ile128=) Unknown - likely benign g.2546533C>T g.2496532C>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) - likely pathogenic g.2546553C>T g.2496552C>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) - likely pathogenic g.2546553C>T g.2496552C>T - - TBC1D24_000076 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
?/. - c.409G>A r.(?) p.(Val137Met) Unknown - VUS g.2546558G>A g.2496557G>A TBC1D24(NM_001199107.2):c.409G>A (p.V137M) - TBC1D24_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.418C>G r.(?) p.(Leu140Val) Unknown - VUS g.2546567C>G g.2496566C>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) - likely pathogenic g.2546580A>G g.2496579A>G - - TBC1D24_000077 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
-?/. - c.438C>T r.(?) p.(Ile146=) Unknown - likely benign g.2546587C>T g.2496586C>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 - VUS 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.441C>T r.(?) p.(Asp147=) Unknown - likely benign g.2546590C>T - TBC1D24(NM_001199107.1):c.441C>T (p.D147=) - TBC1D24_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.442G>A r.(?) p.(Glu148Lys) Paternal (confirmed) - likely pathogenic g.2546591G>A g.2496590G>A - - TBC1D24_000078 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte whole exome sequencing - - - - - - - - - - - - - -
-?/. - c.447C>T r.(?) p.(Ala149=) Unknown - likely benign g.2546596C>T g.2496595C>T TBC1D24(NM_001199107.1):c.447C>T (p.A149=) - TBC1D24_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.457G>A r.(?) p.(Glu153Lys) Unknown - VUS g.2546606G>A g.2496605G>A TBC1D24(NM_001199107.1):c.457G>A (p.E153K, p.(Glu153Lys)) - TBC1D24_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.457G>A r.(?) p.(Glu153Lys) Unknown - likely pathogenic g.2546606G>A g.2496605G>A TBC1D24(NM_001199107.1):c.457G>A (p.E153K, p.(Glu153Lys)) - TBC1D24_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.457G>A r.(?) p.(Glu153Lys) Unknown - likely pathogenic g.2546606G>A - TBC1D24(NM_001199107.1):c.457G>A (p.E153K, p.(Glu153Lys)) - TBC1D24_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.457G>T r.(?) p.(Glu153*) Paternal (confirmed) - likely pathogenic g.2546606G>T g.2496605G>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) - likely pathogenic g.2546617C>A g.2496616C>A - - TBC1D24_000002 - - - - Unknown - - - - - DNA SEQ-NG - - - - - - F - ? (unknown) - - - - - 1 Laurent Villard
?/. - c.493G>A r.(?) p.(Gly165Ser) Unknown - VUS g.2546642G>A - TBC1D24(NM_001199107.1):c.493G>A (p.G165S) - TBC1D24_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 2 c.533C>T r.(?) p.(Ser178Leu) Parent #1 - likely pathogenic (dominant) 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 white - 0 - - 13 Hela Azaiez
+?/? 2 c.533C>T r.(?) p.(Ser178Leu) Parent #1 - likely pathogenic (dominant) g.2546682C>T g.2496681C>T - - TBC1D24_000017 - PubMed: Zhang 2014 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES DFNA1 - PubMed: Zhang 2014 4-generation family, 11 affected (5F, 6M) F;M no China Chinese - 0 - - 11 Tao Yang
+?/. 2 c.533C>T r.(?) p.(Ser178Leu) Paternal (confirmed) - likely pathogenic (dominant) g.2546682C>T g.2496681C>T - - TBC1D24_000017 - - - - Germline yes - - 0 - DNA SEQ, SEQ-NG-I - - DFNA65 - - - M no Poland - >30y 0 yes - 6 Dominika Oziębło
-?/. - c.546G>A r.(?) p.(Thr182=) Unknown - likely benign g.2546695G>A g.2496694G>A TBC1D24(NM_001199107.1):c.546G>A (p.T182=) - TBC1D24_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.553G>A r.(?) p.(Asp185Asn) Paternal (confirmed) - likely pathogenic (dominant) g.2546702G>A g.2496701G>A - - TBC1D24_000126 - - - - Germline yes - - 0 - DNA SEQ, SEQ-NG-I - - DFNA65 - - - F no Poland - - - yes - 12 Dominika Oziębło
?/. - c.601G>A r.(?) p.(Val201Met) Unknown - VUS g.2546750G>A - TBC1D24(NM_001199107.1):c.601G>A (p.V201M) - TBC1D24_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.605C>T r.(?) p.(Ser202Leu) Unknown - VUS g.2546754C>T - - - TBC1D24_000129 - - - rs796053400 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.619C>T r.(?) p.(Gln207*) Unknown - pathogenic g.2546768C>T g.2496767C>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) - likely pathogenic g.2546768C>T g.2496767C>T - - TBC1D24_000080 - - - - Somatic yes - - 0 - DNA SEQ-NG Peripheral blood leukocyte gene panel (a list of epilepsy genes analysed) - - - - - - - - - - - - - -
?/. - c.622_639del r.(?) p.(Val208_Gln213del) Unknown - VUS g.2546771_2546788del g.2496770_2496787del 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 - VUS 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 - VUS 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
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