All variants in the TLK2 gene

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

27 entries on 1 page. Showing entries 1 - 27.
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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.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 - - - 0 - VKGL-NL_Nijmegen
+?/. - c.600_601del r.(?) p.(Gln200Hisfs*24) - likely pathogenic g.60629731_60629732del g.62552370_62552371del 600_601delGA - TLK2_000025 - - - - Unknown - - - 0 - IMGAG
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. - c.723dup r.(?) p.(Asn242GlnfsTer3) - pathogenic g.60637379dup g.62560018dup TLK2(NM_006852.3):c.723dupC (p.N242Qfs*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 - - - 0 - VKGL-NL_Rotterdam
+/. - c.911del r.(?) p.(His304Profs*25) - pathogenic g.60642441del - TLK2(NM_001330418.1):c.464delA (p.H155Pfs*25) - TLK2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - 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_001284333.2):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 - - - 0 - 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_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_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1201A>T r.(?) p.(Ile401Phe) - VUS g.60655850A>T - TLK2(NM_006852.3):c.1201A>T (p.(Ile401Phe)) - TLK2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - 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 - - - 0 - VKGL-NL_Leiden
-?/. - c.1461G>A r.(?) p.(Lys487=) - likely benign g.60673946G>A - TLK2(NM_001330418.1):c.1014G>A (p.K338=) - TLK2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1583del r.(?) p.(Asn528Metfs*7) - pathogenic g.60678044del g.62600683del 1583delA - TLK2_000015 - - - - Unknown - - - 0 - IMGAG
?/. - 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 - - - 0 - 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_001284333.2):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 - - - 0 - VKGL-NL_Nijmegen
+?/. - 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 - - - 0 - VKGL-NL_Nijmegen
+?/. - 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 - - - 0 - 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 - - - 0 - VKGL-NL_Nijmegen
+?/. - c.2089C>T r.(?) p.(Arg697*) - VUS g.60689762C>T g.62612401C>T - - TLK2_000024 - - - - De novo - - - 0 - Nada Al Tassan
+?/. - c.2092C>T r.(?) p.(Arg698Ter) - likely pathogenic g.60689765C>T g.62612404C>T - - TLK2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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