Full data view for gene TBCK

Information The variants shown are described using the NM_001163435.1 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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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.-31747C>G r.(?) p.(=) Unknown - VUS g.107268805G>C - AIMP1(NM_001142416.2):c.895G>C (p.(Gly299Arg)) - AIMP1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-31697T>C r.(?) p.(=) Unknown - VUS g.107268755A>G g.106347598A>G - - AIMP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-20958A>G r.(?) p.(=) Unknown - likely benign g.107258016T>C g.106336859T>C AIMP1(NM_004757.3):c.604-10T>C - AIMP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-15971G>A r.(?) p.(=) Unknown - VUS g.107253029C>T g.106331872C>T AIMP1(NM_004757.3):c.592C>T (p.P198S) - AIMP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-12310T>C r.(?) p.(=) Unknown - likely benign g.107249368A>G g.106328211A>G AIMP1(NM_004757.4):c.359A>G (p.E120G) - AIMP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-12299del r.(?) p.(=) Unknown - pathogenic g.107249358del g.106328201del AIMP1(NM_004757.4):c.349delA (p.T117Qfs*25) - AIMP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-12289dup r.(?) p.(=) Unknown - VUS g.107249347dup - AIMP1(NM_004757.3):c.338dupT (p.G115Rfs*14) - AIMP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-12285G>A r.(?) p.(=) Unknown - pathogenic g.107249343C>T g.106328186C>T AIMP1(NM_004757.3):c.334C>T (p.Q112*) - AIMP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-12222T>C r.(?) p.(=) Unknown - VUS g.107249280A>G - AIMP1(NM_001142416.2):c.271A>G (p.(Met91Val)) - AIMP1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11586C>T r.(?) p.(=) Unknown - likely benign g.107248644G>A g.106327487G>A AIMP1(NM_004757.3):c.146G>A (p.R49Q) - AIMP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-11565A>G r.(?) p.(=) Unknown - VUS g.107248623T>C g.106327466T>C AIMP1(NM_004757.3):c.125T>C (p.(Leu42Ser)) - AIMP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9160C>T r.(?) p.(=) Unknown - VUS g.107246218G>A - AIMP1(NM_001142416.2):c.52G>A (p.(Ala18Thr)) - AIMP1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9094G>A r.(?) p.(=) Unknown - likely benign g.107246152C>T g.106324995C>T AIMP1(NM_001142416.1):c.58C>T (p.R20C) - AIMP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-9078G>T r.(?) p.(=) Unknown - benign g.107246136C>A g.106324979C>A AIMP1(NM_004757.4):c.-25-6C>A - AIMP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161G>A r.(?) p.(Cys54Tyr) Unknown - VUS g.107229957C>T - TBCK(NM_001163435.3):c.161G>A (p.(Cys54Tyr)) - AIMP1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.313C>T r.(?) p.(Gln105*) Unknown - likely pathogenic g.107183323G>A - TBCK(NM_001163435.1):c.313C>T (p.(Gln105*)) - AIMP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.376C>T r.(?) p.(Arg126*) Parent #2 - likely pathogenic g.107183260G>A g.106262103G>A - - TBCK_000004 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA arraySNP, SEQ - - ID 27040691-Pat9-1 PubMed: Bhoj 2016, Journal: Bhoj 2016 family, affected sister/brother, Pat9-1 F - Mexico;Puerto Rico - >10y - - - 1 Pieter Klap
+?/. 4 c.376C>T r.(?) p.(Arg126*) Both (homozygous) - likely pathogenic g.107183260G>A g.106262103G>A - - TBCK_000004 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA SEQ - - ID 27040691-Pat8-1 PubMed: Bhoj 2016, Journal: Bhoj 2016 - F - Dominican Republic;Puerto Rico - >12y - - - 1 Pieter Klap
+?/. 4 c.376C>T r.(?) p.(Arg126*) Parent #2 - likely pathogenic g.107183260G>A g.106262103G>A - - TBCK_000004 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA arraySNP, SEQ - - ID 27040691-Pat9-2 PubMed: Bhoj 2016, Journal: Bhoj 2016 family, affected sister/brother, Pat9-2 M - Mexico;Puerto Rico - >02y - - - 1 Pieter Klap
+?/. 4 c.376C>T r.(?) p.(Arg126*) Both (homozygous) - likely pathogenic g.107183260G>A g.106262103G>A - - TBCK_000004 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA SEQ - - ID 27040691-Pat5-1 PubMed: Bhoj 2016, Journal: Bhoj 2016 - F - (United States) Hispanic >10y - - - 1 Pieter Klap
+?/. 4 c.376C>T r.(?) p.(Arg126*) Both (homozygous) - likely pathogenic g.107183260G>A g.106262103G>A - - TBCK_000004 - PubMed: Chong 2016, Journal: Chong 2016 - - Germline - - - - - DNA SEQ-NG - - encephalopathy, neonatal, severe - PubMed: Chong 2016, Journal: Chong 2016 family, mother and sister with cleft lip and palate, sister with arrhythmia, PatA-ll-1 M no - Puerto Rican >14y - - - 1 Jamie Zeegers
+?/. 4 c.376C>T r.(?) p.(Arg126*) Both (homozygous) - likely pathogenic g.107183260G>A g.106262103G>A - - TBCK_000004 - PubMed: Chong 2016, Journal: Chong 2016 - - Germline - - - - - DNA SEQ-NG - - encephalopathy, neonatal, severe - PubMed: Chong 2016, Journal: Chong 2016 no family history, unaffected heterozygous carrier parents M no - Puerto Rican >14y - - - 1 Jamie Zeegers
+/. - c.376C>T r.(?) p.(Arg126Ter) Unknown - pathogenic g.107183260G>A g.106262103G>A TBCK(NM_001163435.3):c.376C>T (p.R126*) - TBCK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.376C>T r.(?) p.(Arg126Ter) Unknown - pathogenic g.107183260G>A g.106262103G>A TBCK(NM_001163435.3):c.376C>T (p.R126*) - TBCK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.382-2A>G r.spl p.? Unknown - likely pathogenic g.107181669T>C - - - TBCK_000020 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+?/. - c.382-2A>G r.spl? p.? Unknown - likely pathogenic g.107181669T>C - - - TBCK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.418A>G r.(?) p.(Met140Val) Unknown - VUS g.107181631T>C - TBCK(NM_001163435.3):c.418A>G (p.(Met140Val)) - AIMP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.418A>G r.(?) p.(Met140Val) Unknown - VUS g.107181631T>C - TBCK(NM_001163435.3):c.418A>G (p.(Met140Val)) - AIMP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5i c.455+4A>G r.(267_455del) p.(Ser89_Gly152delinsArg) Both (homozygous) - likely pathogenic g.107181590T>C g.106260433T>C c.455+4C>G - TBCK_000012 paper reports c.455+4C>G but position c.455+4 is A not C; effect reported as splice, skipping of exons 3 and 4 (probably 4 and 5) PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA SEQ - - ID 27040691-Pat7-1 PubMed: Bhoj 2016, Journal: Bhoj 2016 - M - Palestine - >06y - - - 1 Pieter Klap
?/. - c.557A>G r.(?) p.(Asp186Gly) Unknown - VUS g.107173063T>C - TBCK(NM_001163435.3):c.557A>G (p.(Asp186Gly)) - AIMP1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.659-1G>A r.659_720del p.? Paternal (inferred) - pathogenic (recessive) g.107170140C>T g.106248983C>T - - TBCK_000017 exon skipping PubMed: Lee 2019 ClinVar-000930578.1 - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, fibroblast WES ? Pat26 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
+?/. 7i_22i c.(658+1_659-1)_(2059+1_2060-1)del r.? p.? Parent #1 - likely pathogenic g.(107092428_107114765)_(107170140_107171574)del - deletion ex 7-22 - TBCK_000005 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA arraySNP, SEQ - - ID 27040691-Pat9-2 PubMed: Bhoj 2016, Journal: Bhoj 2016 family, affected sister/brother, Pat9-2 M - Mexico;Puerto Rico - >02y - - - 1 Pieter Klap
+?/. 7i_22i c.(658+1_659-1)_(2059+1_2060-1)del r.? p.? Parent #1 - likely pathogenic g.(107092428_107114765)_(107170140_107171574)del - deletion ex 7-22 - TBCK_000005 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA arraySNP, SEQ - - ID 27040691-Pat9-1 PubMed: Bhoj 2016, Journal: Bhoj 2016 family, affected sister/brother, Pat9-1 F - Mexico;Puerto Rico - >10y - - - 1 Pieter Klap
?/. - c.688G>A r.(?) p.(Ala230Thr) Unknown - VUS g.107170110C>T - TBCK(NM_001290768.1):c.172G>A (p.A58T) - AIMP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.737_738del r.(?) p.(Val246Aspfs*6) Unknown - likely pathogenic g.107169448_107169449del - TBCK(NM_001163435.1):c.737_738del (p.(Val246Aspfs*6)) - AIMP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.803_804insTGAA r.(?) p.(Met268IlefsTer9) Unknown - pathogenic g.107168423_107168424insTTCA g.106247266_106247267insTTCA - - AIMP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.803_806del r.(?) p.(Met268Argfs*26) Parent #1 - likely pathogenic g.107168423_107168426del g.106247266_106247269del 803_806delTGAA - TBCK_000002 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA SEQ, Western - - ID - PubMed: Bhoj 2016, Journal: Bhoj 2016 family, 2-affected sisters, Pat4-1 F no - European, mixed >04y - - - 1 Jamie Zeegers
+?/. 9i c.803_806del r.(?) p.(Met268Argfs*26) Parent #1 - likely pathogenic g.107168423_107168426del g.106247266_106247269del 803_806delTGAA - TBCK_000002 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA SEQ, Western - - ID - PubMed: Bhoj 2016, Journal: Bohj 2016 family, 2-affected sisters, Pat4-2 F no - European, mixed >02y - - - 1 Jamie Zeegers
+?/. - c.803_806del r.(?) p.(Met268ArgfsTer26) Unknown - likely pathogenic g.107168423_107168426del - TBCK(NM_001163435.1):c.803_806delTGAA (p.(Met268fs)), TBCK(NM_001290768.2):c.287_290delTGAA (p.M96Rfs*26) - TBCK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.803_806del r.(?) p.(Met268ArgfsTer26) Unknown - pathogenic g.107168423_107168426del - TBCK(NM_001163435.1):c.803_806delTGAA (p.(Met268fs)), TBCK(NM_001290768.2):c.287_290delTGAA (p.M96Rfs*26) - TBCK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9i c.831_832insTA r.(?) p.(Pro278Tyrfs*18) Both (homozygous) - likely pathogenic g.107168396_107168397insAT g.106247239_106247240insAT - - TBCK_000010 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA SEQ, Western - - ID - PubMed: Bhoj 2016, Journal: Bhoj 2016 family, Pat2-1 M no - Syrian >05y - - - 1 Jamie Zeegers
-?/. - c.833C>T r.(?) p.(Pro278Leu) Unknown - likely benign g.107168394G>A g.106247237G>A TBCK(NM_001290768.1):c.317C>T (p.P106L) - AIMP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.941A>G r.(?) p.(Asn314Ser) Unknown - VUS g.107165912T>C - TBCK(NM_001290768.1):c.425A>G (p.N142S) - AIMP1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.974T>C r.(?) p.(Val325Ala) Unknown - VUS g.107165879A>G - TBCK(NM_001290768.1):c.458T>C (p.V153A) - AIMP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1122G>T r.(?) p.(Ser374=) Unknown - likely benign g.107163675C>A - TBCK(NM_001290768.2):c.606G>T (p.S202=) - AIMP1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1130A>T r.(?) p.(Asp377Val) Parent #1 - VUS g.107163667T>A g.106242510T>A - - TBCK_000018 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34840340 Germline - 3/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.1130A>T r.(?) p.(Asp377Val) Unknown - VUS g.107163667T>A - TBCK(NM_001290768.1):c.614A>T (p.D205V) - TBCK_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 14 c.1265C>A r.(?) p.(Ala422Glu) Unknown - likely benign g.107157632G>T g.106236475G>T - - TBCK_000001 not associated to phenotype PubMed: Xia 2014 - - De novo - - - - - DNA SEQ - - ? - PubMed: Xia 2014 2-generation family, 1 affected F no (United States) European - - - - 1 Marianne Vos (LOVD-team)
-?/. - c.1275G>A r.(?) p.(Thr425=) Unknown - likely benign g.107157622C>T - TBCK(NM_001290768.2):c.759G>A (p.T253=) - AIMP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1335C>T r.(?) p.(Phe445=) Unknown - likely benign g.107157562G>A - TBCK(NM_001290768.1):c.819C>T (p.F273=) - AIMP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1350+6del r.(=) p.(=) Unknown - likely benign g.107157542del - TBCK(NM_001163435.3):c.1350+6del - AIMP1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 15 c.1363A>T r.(?) p.(Lys455*) Both (homozygous) - likely pathogenic g.107156512T>A g.106235355T>A - - TBCK_000007 - PubMed: Chong 2016, Journal: Chong 2016 - - Germline yes - - - - DNA SEQ-NG - - encephalopathy, neonatal, severe - PubMed: Chong 2016, Journal: Chong 2016 4-generation family, two affected cousins, unaffected parents; PatB-IV-4, two affected brothers with hematologic disorder F yes - Lebanese >04y - - - 1 Jamie Zeegers
+?/. 15 c.1363A>T r.(?) p.(Lys455*) Both (homozygous) - likely pathogenic g.107156512T>A g.106235355T>A - - TBCK_000007 - PubMed: Chong 2016, Journal: Chong 2016 - - Germline yes - - - - DNA SEQ-NG - - encephalopathy, neonatal, severe - PubMed: Chong 2016, Journal: Chong 2016 4-generation family, two affected cousins, unaffected parents, PatB-IV-6 F yes - Lebanese 10y - - - 1 Jamie Zeegers
+?/. 15 c.1370del r.(?) p.(Asn457Thrfs*15) Both (homozygous) - likely pathogenic g.107156512del g.106235355del - - TBCK_000011 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA SEQ - - ID 27040691-Pat6-2 PubMed: Bhoj 2016, Journal: Bhoj 2016 family, affected sister/brother, Pat6-2 F - Algeria - >03y - - - 1 Pieter Klap
+?/. 15 c.1370del r.(?) p.(Asn457Thrfs*15) Both (homozygous) - likely pathogenic g.107156512del g.106235355del - - TBCK_000011 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA SEQ - - ID 27040691-Pat6-1 PubMed: Bhoj 2016, Journal: Bhoj 2016 family, affected sister/brother, Pat6-1 M - Algeria - >12y - - - 1 Pieter Klap
+?/. - c.1370dup r.(?) p.(Asn457LysfsTer10) Both (homozygous) - likely pathogenic g.107156505dup - - - TBCK_000019 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
-?/. - c.1513-5A>G r.spl? p.? Unknown - likely benign g.107154226T>C - TBCK(NM_001163435.3):c.1513-5A>G - AIMP1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 17 c.1532G>A r.(?) p.(Arg511His) Both (homozygous) - likely pathogenic g.107154202C>T g.106233045C>T - - TBCK_000006 - PubMed: Chong 2016, Journal: Chong 2016 - - Germline - - - - - DNA SEQ-NG - - encephalopathy, neonatal, severe - PubMed: Chong 2016, Journal: Chong 2016 family, similarly affected sister (deceased), unaffected heterozygous carrier parents M yes - Egyptian >02y - - - 2 Jamie Zeegers
-?/. - c.1608A>G r.(?) p.(Val536=) Unknown - likely benign g.107154126T>C - TBCK(NM_001290768.1):c.1092A>G (p.V364=) - AIMP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1635G>A r.(?) p.(Trp545Ter) Unknown - pathogenic g.107154099C>T g.106232942C>T TBCK(NM_001290768.1):c.1119G>A (p.W373*), TBCK(NM_001290768.2):c.1119G>A (p.W373*) - AIMP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1635G>A r.(?) p.(Trp545Ter) Unknown - pathogenic g.107154099C>T g.106232942C>T TBCK(NM_001290768.1):c.1119G>A (p.W373*), TBCK(NM_001290768.2):c.1119G>A (p.W373*) - AIMP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1635G>A r.(?) p.(Trp545Ter) Unknown - pathogenic g.107154099C>T - TBCK(NM_001290768.1):c.1119G>A (p.W373*), TBCK(NM_001290768.2):c.1119G>A (p.W373*) - AIMP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1639+10G>A r.(=) p.(=) Unknown - likely benign g.107154085C>T - TBCK(NM_001163435.3):c.1639+10G>A - AIMP1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 18 c.1652T>C r.(?) p.(Leu551Pro) Both (homozygous) - likely pathogenic g.107152924A>G g.106231767A>G - - TBCK_000008 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA SEQ, Western - - ID - PubMed: Bhoj 2016, Journal: Bohj 2016 family, Pat3-1 M yes - Pakistani >11y - - - 1 Jamie Zeegers
-?/. - c.1659T>A r.(?) p.(Ala553=) Unknown - likely benign g.107152917A>T - TBCK(NM_001290768.1):c.1143T>A (p.A381=) - AIMP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1885dup r.(?) p.(Thr629Asnfs*45) Unknown - pathogenic g.107115887dup - TBCK(NM_001290768.2):c.1369dupA (p.T457Nfs*45) - AIMP1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 21i c.1897+1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.107115874C>T g.106194717C>T - - TBCK_000009 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline yes - - - - DNA SEQ, Western - - ID - PubMed: Bhoj 2016, Journal: Bohj 2016 family, 2-affected sister/brother, Pat1-1 M yes - Saudi 05y - - - 1 Jamie Zeegers
+?/. 21i c.1897+1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.107115874C>T g.106194717C>T - - TBCK_000009 - PubMed: Bhoj 2016, Journal: Bohj 2016 - - Germline - - - - - DNA SEQ, Western - - ID - PubMed: Bhoj 2016, Journal: Bohj family, 2-affected sister/brother, Pat1-2 F yes - Saudi >11y - - - 1 Jamie Zeegers
+/. - c.1897+1G>A r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.107115874C>T g.106194717C>T NM_033115:c.1708+1G>A - TBCK_000009 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 25558065-Fam10DG1670 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 6 Johan den Dunnen
+/. - c.1897+1G>A r.spl? p.? Both (homozygous) ACMG pathogenic g.107115874C>T g.106194717C>T NM_033115.4:c.1708+1G>A - TBCK_000009 ACMG PVS1, PM2, PP1 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 10DG1670 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. - c.1898-10C>T r.(=) p.(=) Unknown - likely benign g.107114937G>A g.106193780G>A TBCK(NM_001163435.3):c.1898-10C>T, TBCK(NM_001290768.1):c.1382-10C>T - TBCK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1898-10C>T r.(=) p.(=) Unknown - likely benign g.107114937G>A - TBCK(NM_001163435.3):c.1898-10C>T, TBCK(NM_001290768.1):c.1382-10C>T - TBCK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1971dup r.(?) p.(Ile658Tyrfs*16) Unknown - likely pathogenic g.107114854dup - TBCK(NM_001290768.2):c.1455dupT (p.I486Yfs*16) - AIMP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2060-9050_2235+26133del r..2060_2235del p.? Maternal (confirmed) - pathogenic (recessive) g.107066120_107101478del g.106144963_106180321del - - TBCK_000016 exon skipping PubMed: Lee 2019 ClinVar-000930579.1 - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, fibroblast WES ? Pat26 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.2060-6793_2235+426delinsATGGTAAATATGGAGAGGCATTCTCTG r.2060_2235del p.Glu687ValfsTer9 Both (homozygous) - pathogenic (recessive) g.107091826_107099220delinsCAGAGAATGCCTCTCCATATTTACCAT g.106170669_106178063delinsCAGAGAATGCCTCTCCATATTTACCAT - - TBCK_000021 skipping exon 23 PubMed: Dekker 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES trio gene panel NDD Pat4 PubMed: Dekker 2023 - F no Netherlands - - - - - 1 Johan den Dunnen
+?/. 22i c.2060-2A>G r.spl p.? Parent #2 - likely pathogenic g.107092429T>C g.106171272T>C - - TBCK_000003 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA SEQ, Western - - ID - PubMed: Bhoj 2016, Journal: Bhoj 2016 family, 2-affected sisters, Pat4-1 F no - European, mixed >04y - - - 1 Jamie Zeegers
+?/. 22i c.2060-2A>G r.spl p.? Parent #2 - likely pathogenic g.107092429T>C g.106171272T>C - - TBCK_000003 - PubMed: Bhoj 2016, Journal: Bhoj 2016 - - Germline - - - - - DNA SEQ, Western - - ID - PubMed: Bhoj 2016, Journal: Bohj 2016 family, 2-affected sisters, Pat4-2 F no - European, mixed >02y - - - 1 Jamie Zeegers
?/. - c.2186C>G r.(?) p.(Ser729Trp) Unknown - VUS g.107092301G>C - TBCK(NM_001290768.1):c.1670C>G (p.S557W) - AIMP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2258del r.(?) p.(Asn753Metfs*3) Unknown - likely pathogenic g.107037515del - TBCK(NM_001163435.1):c.2258delA (p.(Asn753fs)) - AIMP1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2359A>T r.(?) p.(Thr787Ser) Unknown - likely benign g.107037412T>A g.106116255T>A TBCK(NM_001163435.1):c.2359A>T (p.(Thr787Ser)) - AIMP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2411A>G r.(?) p.(Asp804Gly) Unknown - VUS g.107037360T>C - - - AIMP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2420G>C r.(?) p.(Arg807Pro) Unknown - likely benign g.107016790C>G - TBCK(NM_001163435.3):c.2420G>C (p.(Arg807Pro)) - AIMP1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2512C>T r.(?) p.(Gln838*) Both (homozygous) - likely pathogenic g.107016698G>A g.106095541G>A - - TBCK_000015 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
-?/. - c.2571+17A>T r.(=) p.(=) Unknown - likely benign g.107016622T>A - TBCK(NM_001290768.2):c.2055+17A>T - AIMP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2572-5dup r.spl? p.? Unknown - likely benign g.106967850dup - TBCK(NM_001290768.1):c.2056-5dupT - AIMP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2660C>T r.(?) p.(Thr887Ile) Unknown - likely benign g.106967749G>A g.106046592G>A TBCK(NM_001290768.1):c.2144C>T (p.T715I) - AIMP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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