All variants in the TLK2 gene

Information The variants shown are described using the NM_006852.3 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - c.-10_-8dup r.(?) p.(=) - VUS g.60556647_60556649dup - TLK2(NM_006852.6):c.-10_-8dup - TLK2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. _19i_22_ c.(?_1860-29)_*2916{0} r.? p.? - pathogenic (dominant) g.(?_60683462)_(60722398_?)del - hg19 g.(60683462–60722398)del - TLK2_000034 de novo minimal 39kb del(17)(q23.2) PubMed: Pavinato 2022 - - De novo - - - - - Johan den Dunnen
?/. Ex2 c.81+2T>C r.spl? p.? ACMG VUS (!) g.60558569T>C g.62481208T>C - - TLK2_000046 ACMG/AMP: PVS1_STR, PM2_SUP - - - Germline ? - - - - Andreas Laner
-?/. - c.82-12212G>A r.(=) p.(=) - likely benign g.60585922G>A - TLK2(NM_001330418.3):c.-271+8G>A - TLK2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.126C>T r.(?) p.(Val42=) - likely benign g.60598178C>T - TLK2(NM_001284333.1):c.126C>T (p.V42=) - TLK2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.127G>A r.(?) p.(Gly43Arg) - likely pathogenic g.60598179G>A - - - TLK2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.181C>T r.(?) p.(Arg61Ter) - likely pathogenic g.60599592C>T g.62522231C>T - - TLK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.223+4G>A r.spl? p.? - likely benign g.60599638G>A - TLK2(NM_006852.6):c.223+4G>A - TLK2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.224-8A>G r.(=) p.(=) - likely benign g.60600487A>G - TLK2(NM_006852.6):c.224-8A>G - TLK2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.283G>A r.(?) p.(Ala95Thr) - likely benign g.60601612G>A - TLK2(NM_006852.6):c.283G>A (p.(Ala95Thr)) - TLK2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.302G>A r.(?) p.(Gly101Asp) - VUS g.60601631G>A - TLK2(NM_006852.6):c.302G>A (p.G101D) - TLK2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.532-1571_831+4del r.spl p.? - VUS g.60628092_60637491del g.62550731_62560130del - - TLK2_000039 - PubMed: Gostain 2020 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. - c.600_601del r.(?) p.(Gln200Hisfs*24) - likely pathogenic g.60629731_60629732del g.62552370_62552371del 600_601delGA - TLK2_000025 - - - - Unknown - - - - - IMGAG
+/. - c.610C>T r.(?) p.(Gln204Ter) - pathogenic g.60629741C>T - - - TLK2_000038 - - - - Unknown - - - - - MobiDetails
?/. - c.661G>C r.(?) p.(Glu221Gln) - VUS g.60631057G>C g.62553696G>C TLK2(NM_001284333.1):c.661G>C (p.E221Q) - TLK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.694G>A r.(?) p.(Glu232Lys) - VUS g.60631090G>A - - - TLK2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.723dup r.(?) p.(Asn242GlnfsTer3) - pathogenic g.60637379dup g.62560018dup TLK2(NM_001330418.1):c.276dupC (p.N93Qfs*3) - TLK2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.779A>G r.(?) p.(Lys260Arg) - VUS g.60637435A>G g.62560074A>G TLK2(NM_006852.3):c.779A>G (p.K260R) - TLK2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.784C>T r.(?) p.(Arg262*) - pathogenic g.60637440C>T - - - TLK2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.911del r.(?) p.(His304Profs*25) - pathogenic g.60642441del - TLK2(NM_001284333.1):c.911delA (p.H304Pfs*25) - TLK2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.968+1G>A r.spl p.? ACMG pathogenic g.60642499G>A g.62565138G>A - - TLK2_000045 - - ClinVar-828197 rs1598620094 De novo - - - - - Marketa Wayhelova
+/. 8i c.968+1G>A r.spl p.? ACMG pathogenic (dominant) g.60642499G>A g.62565138G>A - - TLK2_000045 ACMG: PVS1, PS2, PS1_SUP, PM2_SUP; detected in at least 3 individuals with TLK2-associated phenotype in confimred de novo cosntellation Splice-donor variant, predicted out-of-frame exon 8 skipping, other variants affecting the same nucleotide are described as pathogenic - VCV000828197.6 - De novo - - - - - Andreas Laner
+?/. - c.1015C>G r.(?) p.(Arg339Gly) - likely pathogenic g.60650622C>G g.62573261C>G - - TLK2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1015C>T r.(?) p.(Arg339Trp) - likely pathogenic g.60650622C>T - TLK2(NM_001284333.3):c.1015C>T (p.R339W) - TLK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1055dup r.(?) p.(Ala353GlyfsTer7) - VUS g.60650662dup g.62573301dup TLK2(NM_006852.3):c.1054_1055insA (p.(Ala353GlyfsTer7)) - TLK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1121+969_1121+987del r.(=) p.(=) - VUS g.60651697_60651715del g.62574336_62574354del TLK2(NM_001284333.1):c.1122-10_1130delTTTATGCTAGGCCCTCTTC, TLK2(NM_001284333.3):c.1122-10_1130delTTTATGCTAGGCCCTCTTC - TLK2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1121+969_1121+987del r.(=) p.(=) - VUS g.60651697_60651715del - TLK2(NM_001284333.1):c.1122-10_1130delTTTATGCTAGGCCCTCTTC, TLK2(NM_001284333.3):c.1122-10_1130delTTTATGCTAGGCCCTCTTC - TLK2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1121+1044G>A r.(=) p.(=) - likely benign g.60651772G>A - - - TLK2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1122-8T>G r.(=) p.(=) - VUS g.60654062T>G - TLK2(NM_006852.6):c.1122-8T>G - TLK2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1201A>T r.(?) p.(Ile401Phe) - VUS g.60655850A>T - TLK2(NM_006852.3):c.1201A>T (p.(Ile401Phe)), TLK2(NM_006852.6):c.1201A>T (p.I401F) - TLK2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1201A>T r.(?) p.(Ile401Phe) - VUS g.60655850A>T - TLK2(NM_006852.3):c.1201A>T (p.(Ile401Phe)), TLK2(NM_006852.6):c.1201A>T (p.I401F) - TLK2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1201A>T r.(?) p.(Ile401Phe) - VUS g.60655850A>T - TLK2(NM_006852.3):c.1201A>T (p.(Ile401Phe)), TLK2(NM_006852.6):c.1201A>T (p.I401F) - TLK2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1286+1G>T r.spl? p.? - VUS g.60655936G>T g.62578575G>T TLK2(NM_006852.3):c.1286+1G>T (p.?) - TLK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1357G>T r.(?) p.(Glu453*) - pathogenic (dominant) g.60657542G>T g.62580181G>T 1423G>T (Glu475Ter) - TLK2_000033 - PubMed: Pavinato 2022 - - Germline yes - - - - Johan den Dunnen
-?/. - c.1461G>A r.(?) p.(Lys487=) - likely benign g.60673946G>A - TLK2(NM_001330418.1):c.1014G>A (p.K338=), TLK2(NM_006852.6):c.1461G>A (p.K487=) - TLK2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1461G>A r.(?) p.(Lys487=) - likely benign g.60673946G>A - TLK2(NM_001330418.1):c.1014G>A (p.K338=), TLK2(NM_006852.6):c.1461G>A (p.K487=) - TLK2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1583del r.(?) p.(Asn528Metfs*7) - pathogenic g.60678044del g.62600683del 1583delA - TLK2_000015 - - - - Unknown - - - - - IMGAG
+/. - c.1586A>G r.(?) p.(Asp529Gly) - pathogenic (dominant) g.60678047A>G g.62600686A>G 1652A>G (Asp551Gly) - TLK2_000032 - PubMed: Pavinato 2022 - - De novo - - - - - Johan den Dunnen
?/. - c.1651C>T r.(?) p.(Gln551Ter) - VUS g.60678112C>T g.62600751C>T TLK2(NM_006852.3):c.1651C>T (p.(Gln551Ter)) - TLK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1674C>G r.(?) p.(Tyr558Ter) - likely pathogenic g.60678135C>G g.62600774C>G - - TLK2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1706A>G r.(?) p.(Tyr569Cys) - likely pathogenic g.60678167A>G - TLK2(NM_001284333.3):c.1772A>G (p.Y591C) - TLK2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1720+1G>T r.spl? p.? - likely pathogenic g.60678182G>T g.62600821G>T - - TLK2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1784C>T r.(?) p.(Ser595Leu) - likely pathogenic (dominant) g.60679466C>T - - - TLK2_000035 - - - - De novo - - - - - Alejandro Brea-Fernández
?/. - c.1784C>T r.(?) p.(Ser595Leu) - VUS g.60679466C>T - TLK2(NM_006852.6):c.1784C>T (p.S595L) - TLK2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.1853C>T r.(?) p.(Thr618Ile) - likely pathogenic g.60679535C>T g.62602174C>T TLK2(NM_006852.3):c.1853C>T (p.(Thr618Ile)) - TLK2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1860-1G>A r.spl? p.? - likely pathogenic g.60683490G>A g.62606129G>A - - TLK2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1901del r.(?) p.(Pro634Glnfs*14) - likely pathogenic g.60683532del - TLK2(NM_006852.6):c.1901del (p.(Pro634Glnfs*14)) - TLK2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1972C>T r.(?) p.(Pro658Ser) - VUS g.60685402C>T - TLK2(NM_006852.6):c.1972C>T (p.P658S) - TLK2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.1973C>G r.(?) p.(Pro658Arg) - likely pathogenic g.60685403C>G g.62608042C>G - - TLK2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2030C>G r.(?) p.(Ala677Gly) - VUS g.60685460C>G g.62608099C>G - - TLK2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.2041C>T r.(?) p.(Gln681*) - likely pathogenic g.60685471C>T - - - TLK2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.2079+1G>A r.spl? p.? - likely pathogenic g.60685510G>A g.62608149G>A - - TLK2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.2089C>T r.(?) p.(Arg697*) - VUS g.60689762C>T g.62612401C>T - - TLK2_000024 - - - - De novo - - - - - Nada Al Tassan
+/. - c.2092C>T r.(?) p.(Arg698Ter) - pathogenic g.60689765C>T g.62612404C>T - - TLK2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2228C>T r.(?) p.(Ala743Val) - VUS g.60689901C>T - TLK2(NM_006852.3):c.2228C>T (p.(Ala743Val)) - TLK2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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