Full data view for gene TCF20

Information The variants shown are described using the NM_005650.2 transcript reference sequence.

164 entries on 2 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.-17288G>A r.(?) p.(=) Unknown - likely benign g.42628599C>T - TCF20(NM_001378418.1):c.-36-17252G>A - TCF20_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(-36-23351_-36-23350)inv r.? p.? Unknown - pathogenic g.[(8300001_14700000)_(41000001_44200000)inv;ins[(37600001_40709585)_40709621;42634697_(42634722_44200000)]] - - - TCF20_000012 - PubMed: Babbs 2014, Journal: Babbs 2014 - - De novo yes - - - - DNA arrayCGH - - autism - PubMed: Babbs 2014, Journal: Babbs 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/sibs M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
?/. - c.7T>C r.(?) p.(Ser3Pro) Unknown - VUS g.42611305A>G g.42215299A>G TCF20(NM_005650.1):c.7T>C (p.(Ser3Pro)) - TCF20_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.13C>G r.(?) p.(Arg5Gly) Unknown - VUS g.42611299G>C - TCF20(NM_005650.2):c.13C>G (p.(Arg5Gly)) - TCF20_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.47G>C r.(?) p.(Ser16Thr) Unknown - benign g.42611265C>G g.42215259C>G - - TCF20_000009 - PubMed: Babbs 2014, Journal: Babbs 2014 - - Unknown - 10/331 cases ASD - - - DNA SEQ - - autism - PubMed: Babbs 2014, Journal: Babbs 2014 analysis 331 ASD cases - - United Kingdom (Great Britain) - - - - - 10 Johan den Dunnen
./. - c.47G>C r.(?) p.(Ser16Thr) Unknown - benign g.42611265C>G g.42215259C>G - - TCF20_000009 - PubMed: Babbs 2014, Journal: Babbs 2014 - - Unknown - 8/353 controls - - - DNA SEQ - - Healthy/Control - PubMed: Babbs 2014, Journal: Babbs 2014 analysis 353 controls - - United Kingdom (Great Britain) - - - - - 8 Johan den Dunnen
-?/. - c.47G>C r.(?) p.(Ser16Thr) Unknown - likely benign g.42611265C>G g.42215259C>G TCF20(NM_001378418.1):c.47G>C (p.(Ser16Thr)) - TCF20_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.74C>G r.(?) p.(Ser25Cys) Unknown - VUS g.42611238G>C - TCF20(NM_001378418.1):c.74C>G (p.(Ser25Cys)) - TCF20_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.74C>T r.(?) p.(Ser25Phe) Unknown - VUS g.42611238G>A - TCF20(NM_001378418.1):c.74C>T (p.(Ser25Phe)) - TCF20_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.101A>G r.(?) p.(Gln34Arg) Unknown - VUS g.42611211T>C - TCF20(NM_005650.2):c.101A>G (p.(Gln34Arg)) - TCF20_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.138C>T r.(?) p.(=) Unknown - benign g.42611174G>A - TCF20(NM_001378418.1):c.138C>T (p.(Gly46=)) - TCF20_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.162_167del r.(?) p.(Ser55_Gly56del) Unknown - likely benign g.42611158_42611163del g.42215152_42215157del - - TCF20_000010 - PubMed: Babbs 2014, Journal: Babbs 2014 - - Unknown - 3/353 controls - - - DNA SEQ - - Healthy/Control - PubMed: Babbs 2014, Journal: Babbs 2014 analysis 353 controls - - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
./. - c.162_167del r.(?) p.(Ser55_Gly56del) Unknown - likely benign g.42611158_42611163del g.42215152_42215157del - - TCF20_000010 - PubMed: Babbs 2014, Journal: Babbs 2014 - - Unknown - 2/331 cases ASD - - - DNA SEQ - - autism - PubMed: Babbs 2014, Journal: Babbs 2014 analysis 331 ASD cases - - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
-?/. - c.191C>T r.(?) p.(Ala64Val) Unknown - likely benign g.42611121G>A - TCF20(NM_005650.4):c.191C>T (p.A64V) - TCF20_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.221C>G r.(?) p.(Ser74Cys) Unknown - VUS g.42611091G>C - TCF20(NM_001378418.1):c.221C>G (p.(Ser74Cys)) - TCF20_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.227A>C r.(?) p.(His76Pro) Unknown - likely benign g.42611085T>G - TCF20(NM_001378418.1):c.227A>C (p.(His76Pro)) - TCF20_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.239A>G r.(?) p.(Gln80Arg) Unknown - VUS g.42611073T>C - TCF20(NM_005650.2):c.239A>G (p.(Gln80Arg)) - TCF20_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.295G>A r.(?) p.(Val99Met) Unknown - likely benign g.42611017C>T g.42215011C>T TCF20(NM_005650.1):c.295G>A (p.(Val99Met)) - TCF20_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.313C>T r.(?) p.(Gln105*) Unknown ACMG pathogenic (dominant) g.42610999G>A g.42214993G>A - - TCF20_000089 ACMG: PVS1, PS2_sup, PM2_sup: class 5 - - - De novo - - - - - DNA SEQ-NG-I Blood - DDVIBA 268653 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.385C>T r.(?) p.(Gln129Ter) Unknown - likely pathogenic g.42610927G>A g.42214921G>A - - TCF20_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.395G>A r.(?) p.(Ser132Asn) Unknown - VUS g.42610917C>T - TCF20(NM_005650.4):c.395G>A (p.S132N) - TCF20_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.519C>T r.(?) p.(Ser173=) Unknown - likely benign g.42610793G>A - TCF20(NM_001378418.1):c.519C>T (p.(Ser173=)) - TCF20_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.520C>T r.(?) p.(Gln174*) Unknown ACMG likely pathogenic (dominant) g.42610792G>A g.42214786G>A - - TCF20_000090 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I Blood - DDVIBA 274924 - - M no Germany - - - - - 1 Andreas Laner
-?/. - c.534_536dup r.(?) p.(Gln179dup) Unknown - likely benign g.42610790_42610792dup - TCF20(NM_001378418.1):c.534_536dup (p.(Gln179dup)) - TCF20_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647C>T r.(?) p.(Thr216Ile) Unknown - VUS g.42610665G>A - - - TCF20_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.702C>G r.(?) p.(His234Gln) Unknown - likely benign g.42610610G>C - TCF20(NM_005650.2):c.702C>G (p.(His234Gln)) - TCF20_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.737_739del r.(?) p.(Ser246del) Unknown - likely benign g.42610592_42610594del - TCF20(NM_005650.2):c.737_739delCCT (p.(Ser246del)) - TCF20_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.737_739dup r.(?) p.(Ser246dup) Unknown - likely benign g.42610592_42610594dup - TCF20(NM_001378418.1):c.737_739dup (p.(Ser246dup)) - TCF20_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.754C>T r.(?) p.(Arg252Cys) Unknown - VUS g.42610558G>A g.42214552G>A TCF20(NM_005650.3):c.754C>T (p.R252C) - TCF20_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.755G>A r.(?) p.(Arg252His) Unknown - likely benign g.42610557C>T - TCF20(NM_005650.1):c.755G>A (p.(Arg252His)) - TCF20_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.796G>C r.(?) p.(Val266Leu) Unknown - VUS g.42610516C>G - TCF20(NM_005650.2):c.796G>C (p.(Val266Leu)) - TCF20_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.904C>T r.(?) p.(Gln302*) Unknown - pathogenic g.42610408G>A - - - TCF20_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.948_950dup r.(?) p.(Gln317dup) Unknown - VUS g.42610374_42610376dup - TCF20(NM_005650.2):c.948_950dupGCA (p.(Gln317dup)) - TCF20_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.951del r.(?) p.(Gln317Hisfs*12) Unknown - likely pathogenic g.42610362del - TCF20(NM_001378418.1):c.951del (p.(Gln317Hisfs*12)) - TCF20_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.955C>T r.(?) p.(Gln319*) Unknown - likely pathogenic g.42610357G>A g.42214351G>A - - TCF20_000001 - PubMed: Schäfgen 2016, Journal: Schäfgen 2016 - - De novo - - - - - DNA SEQ-NG-I - - ID 27436265-Pat1 PubMed: Schäfgen 2016, Journal: Schäfgen 2016 2-generation family, 1 affected, unaffected non-carrier parents M no Germany - - - - - 1 Jessica Becker
+/. - c.964dup r.(?) p.(Gln322ProfsTer12) Unknown - pathogenic g.42610348dup g.42214342dup - - TCF20_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.966_968del r.(?) p.(Gln322del) Unknown - likely benign g.42610352_42610354del g.42214346_42214348del - - TCF20_000011 - PubMed: Babbs 2014, Journal: Babbs 2014 - - Unknown - 2/354 controls - - - DNA SEQ - - Healthy/Control - PubMed: Babbs 2014, Journal: Babbs 2014 analysis 354 controls - - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
./. - c.966_968del r.(?) p.(Gln322del) Unknown - likely benign g.42610352_42610354del g.42214346_42214348del - - TCF20_000011 - PubMed: Babbs 2014, Journal: Babbs 2014 - - Unknown - 1/336 cases ASD - - - DNA SEQ - - autism - PubMed: Babbs 2014, Journal: Babbs 2014 analysis 336 ASD cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.966_968del r.(?) p.(Gln322del) Unknown - likely benign g.42610352_42610354del - TCF20(NM_001378418.1):c.966_968del (p.(Gln322del)) - TCF20_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.993T>A r.(?) p.(Tyr331Ter) Unknown - pathogenic g.42610319A>T g.42214313A>T - - TCF20_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.997A>G r.(?) p.(Asn333Asp) Unknown - VUS g.42610315T>C - - - TCF20_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1056T>C r.(?) p.(Val352=) Unknown - likely benign g.42610256A>G - TCF20(NM_005650.1):c.1056T>C (p.(Val352=)) - TCF20_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1132C>T r.(?) p.(Gln378Ter) Unknown - likely pathogenic g.42610180G>A g.42214174G>A - - TCF20_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1186C>A r.(?) p.(Leu396Ile) Unknown - likely benign g.42610126G>T - TCF20(NM_005650.4):c.1186C>A (p.L396I) - TCF20_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1289C>G r.(?) p.(Ser430Cys) Unknown - VUS g.42610023G>C g.42214017G>C TCF20(NM_005650.4):c.1289C>G (p.S430C) - TCF20_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1434C>T r.(?) p.(=) Unknown - likely benign g.42609878G>A - TCF20(NM_001378418.1):c.1434C>T (p.(Ala478=)) - TCF20_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1440T>G r.(?) p.(=) Unknown - benign g.42609872A>C - TCF20(NM_001378418.1):c.1440T>G (p.(Thr480=)) - TCF20_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1462dup r.(?) p.(Arg488Lysfs*10) Unknown - likely pathogenic g.42609850dup - TCF20(NM_001378418.1):c.1462dup (p.(Arg488Lysfs*10)) - TCF20_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1481_1487del r.(?) p.(Lys494IlefsTer16) Unknown - VUS g.42609828_42609834del g.42213822_42213828del TCF20(NM_005650.1):c.1481_1487del (p.(Lys494IlefsTer16)) - TCF20_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1534A>G r.(?) p.(Lys512Glu) Unknown - likely pathogenic g.42609778T>C g.42213772T>C - - TCF20_000004 not in 352 controls PubMed: Babbs 2014, Journal: Babbs 2014 - - De novo - 1/337 cases ASD - - - DNA SEQ - - autism - PubMed: Babbs 2014, Journal: Babbs 2014 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.1549G>C r.(?) p.(Glu517Gln) Unknown - likely benign g.42609763C>G g.42213757C>G TCF20(NM_005650.1):c.1549G>C (p.(Glu517Gln)) - TCF20_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1594G>T r.(?) p.(Glu532*) Unknown - likely pathogenic g.42609718C>A - - - TCF20_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1623dup r.(?) p.(Thr542HisfsTer4) Unknown - likely pathogenic g.42609689dup g.42213683dup TCF20(NM_005650.2):c.1623dupC (p.(Thr542fs)) - TCF20_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1715A>G r.(?) p.(Asn572Ser) Unknown - likely benign g.42609597T>C g.42213591T>C TCF20(NM_005650.1):c.1715A>G (p.(Asn572Ser)) - TCF20_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1723C>T r.(?) p.(Pro575Ser) Unknown - VUS g.42609589G>A - TCF20(NM_005650.4):c.1723C>T (p.P575S) - TCF20_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1781A>G r.(?) p.(Asp594Gly) Unknown - likely benign g.42609531T>C - TCF20(NM_005650.2):c.1781A>G (p.(Asp594Gly)) - TCF20_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1799A>G r.(?) p.(Asn600Ser) Unknown - likely benign g.42609513T>C g.42213507T>C TCF20(NM_005650.3):c.1799A>G (p.N600S) - TCF20_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1810G>C r.(?) p.(Val604Leu) Unknown - VUS g.42609502C>G - TCF20(NM_005650.2):c.1810G>C (p.(Val604Leu)) - TCF20_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1856A>G r.(?) p.(Lys619Arg) Unknown - VUS g.42609456T>C - TCF20(NM_005650.2):c.1856A>G (p.(Lys619Arg)) - TCF20_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1926_1928del r.(?) p.(Gly643del) Unknown - likely benign g.42609387_42609389del - TCF20(NM_001378418.1):c.1926_1928del (p.(Gly643del)) - TCF20_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1955T>G r.(?) p.(Leu652Arg) Unknown - VUS g.42609357A>C - TCF20(NM_005650.2):c.1955T>G (p.(Leu652Arg)) - TCF20_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2120A>G r.(?) p.(Tyr707Cys) Unknown - likely benign g.42609192T>C - TCF20(NM_001378418.1):c.2120A>G (p.(Tyr707Cys)) - TCF20_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2177A>G r.(?) p.(Gln726Arg) Unknown - VUS g.42609135T>C - TCF20(NM_005650.4):c.2177A>G (p.Q726R) - TCF20_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2189G>A r.(?) p.(Gly730Glu) Unknown - VUS g.42609123C>T - TCF20(NM_005650.4):c.2189G>A (p.G730E) - TCF20_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2221del r.(?) p.(Glu741Asnfs*42) Unknown - VUS g.42609094del g.42213088del 2221delG - TCF20_000033 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+?/. - c.2224C>T r.(?) p.(Arg742Ter) Unknown - likely pathogenic g.42609088G>A g.42213082G>A - - TCF20_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2335G>A r.(?) p.(Ala779Thr) Unknown - likely benign g.42608977C>T g.42212971C>T TCF20(NM_005650.1):c.2335G>A (p.(Ala779Thr)) - TCF20_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2415dup r.(?) p.(Lys806Glnfs*25) Unknown - likely pathogenic g.42608897dup - TCF20(NM_005650.2):c.2415dupC (p.(Lys806fs)) - TCF20_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2497C>T r.(?) p.(Gln833Ter) Unknown - likely pathogenic g.42608815G>A g.42212809G>A - - TCF20_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2712_2713del r.(?) p.(Gln906Valfs*28) Unknown - likely pathogenic g.42608599_42608600del - TCF20(NM_005650.2):c.2712_2713delAA (p.(Gln906fs)) - TCF20_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2835G>C r.(?) p.(Lys945Asn) Unknown - likely benign g.42608477C>G - TCF20(NM_005650.2):c.2835G>C (p.(Lys945Asn)) - TCF20_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2885G>A r.(?) p.(Arg962His) Unknown - likely benign g.42608427C>T - TCF20(NM_001378418.1):c.2885G>A (p.(Arg962His)) - TCF20_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2891A>G r.(?) p.(Asn964Ser) Unknown - VUS g.42608421T>C - TCF20(NM_005650.2):c.2891A>G (p.(Asn964Ser)) - TCF20_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2957C>T r.(?) p.(Thr986Met) Unknown - likely benign g.42608355G>A - TCF20(NM_005650.2):c.2957C>T (p.(Thr986Met)) - TCF20_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2968C>T r.(?) p.(Arg990Trp) Unknown - VUS g.42608344G>A - - - TCF20_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2993G>A r.(?) p.(Arg998Gln) Unknown - likely benign g.42608319C>T - TCF20(NM_005650.2):c.2993G>A (p.(Arg998Gln)) - TCF20_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3072A>G r.(?) p.(Arg1024=) Unknown - likely benign g.42608240T>C g.42212234T>C TCF20(NM_005650.3):c.3072A>G (p.R1024=) - TCF20_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3097A>G r.(?) p.(Met1033Val) Unknown - VUS g.42608215T>C - TCF20(NM_005650.1):c.3097A>G (p.(Met1033Val)) - TCF20_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3151C>T r.(?) p.(Pro1051Ser) Unknown - likely benign g.42608161G>A - TCF20(NM_005650.2):c.3151C>T (p.(Pro1051Ser)) - TCF20_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3207dup r.(?) p.(His1070SerfsTer7) Unknown - pathogenic g.42608105dup - TCF20(NM_005650.3):c.3207dupT (p.H1070Sfs*7) - TCF20_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3209A>G r.(?) p.(His1070Arg) Unknown - VUS g.42608103T>C - - - TCF20_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3286G>A r.(?) p.(Glu1096Lys) Unknown - VUS g.42608026C>T g.42212020C>T TCF20(NM_005650.1):c.3286G>A (p.(Glu1096Lys)) - TCF20_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3307G>A r.(?) p.(Gly1103Ser) Unknown - likely benign g.42608005C>T - TCF20(NM_005650.2):c.3307G>A (p.(Gly1103Ser)) - TCF20_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3397C>T r.(?) p.(Arg1133Trp) Unknown - likely benign g.42607915G>A - TCF20(NM_005650.2):c.3397C>T (p.(Arg1133Trp)) - TCF20_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3398G>A r.(?) p.(Arg1133Gln) Unknown - likely benign g.42607914C>T - - - TCF20_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3423_3426dup r.(?) p.(Met1143TrpfsTer13) Unknown - pathogenic g.42607886_42607889dup g.42211880_42211883dup - - TCF20_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3442C>T r.(?) p.(Pro1148Ser) Unknown - VUS g.42607870G>A - TCF20(NM_005650.4):c.3442C>T (p.P1148S) - TCF20_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3495G>A r.(?) p.(Met1165Ile) Unknown - benign g.42607817C>T g.42211811C>T - - TCF20_000008 not in 356 controls PubMed: Babbs 2014, Journal: Babbs 2014 - - Unknown - 1/335 cases ASD - - - DNA SEQ - - autism - PubMed: Babbs 2014, Journal: Babbs 2014 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.3495G>A r.(?) p.(Met1165Ile) Unknown - likely benign g.42607817C>T g.42211811C>T TCF20(NM_001378418.1):c.3495G>A (p.(Met1165Ile)) - TCF20_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3496T>C r.(?) p.(Ser1166Pro) Unknown - likely benign g.42607816A>G - TCF20(NM_005650.2):c.3496T>C (p.(Ser1166Pro)) - TCF20_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3518del r.(?) p.(Lys1173Argfs*5) Unknown - pathogenic g.42607795del g.42211789del 3518delA - TCF20_000003 no nonsense mediated mRNA decay; variant reported as associated with ASD phenotype PubMed: Babbs 2014, Journal: Babbs 2014 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - autism, CRS - PubMed: Babbs 2014, Journal: Babbs 2014 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.3562T>C r.(?) p.(Cys1188Arg) Unknown - likely benign g.42607750A>G - TCF20(NM_005650.2):c.3562T>C (p.(Cys1188Arg)) - TCF20_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3604G>A r.(?) p.(Gly1202Ser) Unknown - likely benign g.42607708C>T - TCF20(NM_005650.2):c.3604G>A (p.(Gly1202Ser)) - TCF20_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3701G>C r.(?) p.(Ser1234Thr) Unknown - likely benign g.42607611C>G - TCF20(NM_005650.2):c.3701G>C (p.(Ser1234Thr)) - TCF20_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3837del r.(?) p.(Asp1280Ilefs*71) Unknown - likely pathogenic g.42607476del g.42211470del 3837delA - TCF20_000002 - PubMed: Schäfgen 2016, Journal: Schäfgen 2016 - - De novo - - - - - DNA SEQ-NG-I - - ID 27436265-Pat2 PubMed: Schäfgen 2016, Journal: Schäfgen 2016 2-generation family, 1 affected, unaffected non-carrier parents M no Germany - - - - - 1 Jessica Becker
-?/. - c.3848G>A r.(?) p.(Arg1283His) Unknown - likely benign g.42607464C>T - TCF20(NM_005650.2):c.3848G>A (p.(Arg1283His)) - TCF20_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3853C>T r.(?) p.(Leu1285Phe) Unknown - VUS g.42607459G>A - TCF20(NM_001378418.1):c.3853C>T (p.(Leu1285Phe)) - TCF20_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3854T>A r.(?) p.(Leu1285His) Unknown - VUS g.42607458A>T - TCF20(NM_005650.3):c.3854T>A (p.L1285H) - TCF20_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3860C>G r.(?) p.(Ser1287Ter) Unknown - VUS g.42607452G>C g.42211446G>C TCF20(NM_005650.3):c.3860C>G (p.S1287*) - TCF20_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3874G>A r.(?) p.(Ala1292Thr) Unknown - likely benign g.42607438C>T - TCF20(NM_005650.2):c.3874G>A (p.(Ala1292Thr)) - TCF20_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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