Full data view for gene TBX18

Information The variants shown are described using the NM_001080508.1 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.2T>G r.(?) p.? Unknown - VUS g.85473898A>C - TBX18(NM_001080508.3):c.2T>G (p.(Met1?)) - TBX18_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.52C>T r.(?) p.(His18Tyr) Unknown - VUS g.85473848G>A - TBX18(NM_001080508.3):c.52C>T (p.H18Y) - TBX18_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.88A>G r.(?) p.(Lys30Glu) Unknown - VUS g.85473812T>C - TBX18(NM_001080508.2):c.88A>G (p.(Lys30Glu)) - TBX18_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.128C>T r.(?) p.(Ala43Val) Unknown - likely benign g.85473772G>A - TBX18(NM_001080508.3):c.128C>T (p.A43V) - TBX18_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.167G>A r.(?) p.(Ser56Asn) Unknown - VUS g.85473733C>T - TBX18(NM_001080508.3):c.167G>A (p.(Ser56Asn)) - TBX18_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.244_255dup r.(?) p.(Thr82_Pro85dup) Unknown - likely benign g.85473647_85473658dup - TBX18(NM_001080508.3):c.244_255dupACGTCTGGGCCG (p.T82_P85dup) - TBX18_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336G>T r.(?) p.(Ala112=) Unknown - likely benign g.85472423C>A - TBX18(NM_001080508.3):c.336G>T (p.A112=) - TBX18_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.497+10A>G r.(=) p.(=) Unknown - likely benign g.85472252T>C - TBX18(NM_001080508.3):c.497+10A>G - TBX18_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.497+17C>G r.(=) p.(=) Unknown - likely benign g.85472245G>C - TBX18(NM_001080508.3):c.497+17C>G - TBX18_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.574G>T r.(?) p.(Val192Leu) Unknown - likely benign g.85469998C>A - TBX18(NM_001080508.3):c.574G>T (p.(Val192Leu), p.V192L) - TBX18_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.574G>T r.(?) p.(Val192Leu) Unknown - likely benign g.85469998C>A - TBX18(NM_001080508.3):c.574G>T (p.(Val192Leu), p.V192L) - TBX18_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.610C>T r.(?) p.(His204Tyr) Unknown - VUS g.85466577G>A g.84756859G>A - - TBX18_000007 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K21 PubMed: Heidet 2017 fetus - - France - - - - - 1 Johan den Dunnen
?/. - c.727G>A r.(?) p.(Asp243Asn) Unknown - VUS g.85466460C>T - TBX18(NM_001080508.3):c.727G>A (p.D243N) - TBX18_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.772A>G r.(?) p.(Ile258Val) Unknown - VUS g.85457805T>C g.84748087T>C - - TBX18_000006 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K192 PubMed: Heidet 2017 fetus - - France - - - - - 1 Johan den Dunnen
+?/. - c.798C>A r.(?) p.(Tyr266*) Unknown - likely pathogenic g.85457779G>T - - - TBX18_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.814G>A r.(?) p.(Val272Ile) Unknown - likely benign g.85457763C>T - TBX18(NM_001080508.3):c.814G>A (p.V272I) - TBX18_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.821G>T r.(?) p.(Arg274Leu) Unknown - VUS g.85457756C>A - TBX18(NM_001080508.3):c.821G>T (p.R274L) - TBX18_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.838G>A r.(?) p.(Asp280Asn) Unknown - likely benign g.85457739C>T - TBX18(NM_001080508.3):c.838G>A (p.D280N) - TBX18_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.886T>C r.(?) p.(Phe296Leu) Unknown - VUS g.85457691A>G - - - TBX18_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.905T>G r.(?) p.(Val302Gly) Unknown - VUS g.85457672A>C - TBX18(NM_001080508.2):c.905T>G (p.(Val302Gly)) - TBX18_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.908T>G r.(?) p.(Phe303Cys) Unknown - VUS g.85457669A>C - TBX18(NM_001080508.2):c.908T>G (p.(Phe303Cys)) - TBX18_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1091C>G r.(?) p.(Pro364Arg) Unknown - VUS g.85448223G>C - TBX18(NM_001080508.3):c.1091C>G (p.(Pro364Arg)) - TBX18_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1102A>C r.(?) p.(Asn368His) Unknown - likely benign g.85447125T>G - TBX18(NM_001080508.3):c.1102A>C (p.N368H) - TBX18_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1103A>G r.(?) p.(Asn368Ser) Unknown - likely benign g.85447124T>C - TBX18(NM_001080508.2):c.1103A>G (p.(Asn368Ser)), TBX18(NM_001080508.3):c.1103A>G (p.N368S) - TBX18_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1103A>G r.(?) p.(Asn368Ser) Unknown - likely benign g.85447124T>C - TBX18(NM_001080508.2):c.1103A>G (p.(Asn368Ser)), TBX18(NM_001080508.3):c.1103A>G (p.N368S) - TBX18_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1178C>T r.(?) p.(Ser393Phe) Unknown - VUS g.85447049G>A - - - TBX18_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1187C>T r.(?) p.(Ser396Phe) Unknown - VUS g.85447040G>A - TBX18(NM_001080508.3):c.1187C>T (p.(Ser396Phe)) - TBX18_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1264C>T r.(?) p.(Arg422Cys) Unknown - VUS g.85446963G>A - TBX18(NM_001080508.3):c.1264C>T (p.R422C) - TBX18_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1265G>A r.(?) p.(Arg422His) Unknown - likely benign g.85446962C>T - TBX18(NM_001080508.3):c.1265G>A (p.(Arg422His)) - TBX18_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1289A>G r.(?) p.(Tyr430Cys) Unknown - VUS g.85446938T>C - TBX18(NM_001080508.2):c.1289A>G (p.(Tyr430Cys)) - TBX18_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1302G>C r.(?) p.(Leu434Phe) Unknown - likely benign g.85446925C>G - TBX18(NM_001080508.3):c.1302G>C (p.(Leu434Phe)) - TBX18_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1378G>A r.(?) p.(Val460Met) Unknown - VUS g.85446849C>T - TBX18(NM_001080508.3):c.1378G>A (p.V460M) - TBX18_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1390A>C r.(?) p.(Thr464Pro) Unknown - likely benign g.85446837T>G - TBX18(NM_001080508.3):c.1390A>C (p.T464P) - TBX18_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1483C>A r.(?) p.(Gln495Lys) Unknown - VUS g.85446744G>T g.84737026G>T - - TBX18_000005 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K48 PubMed: Heidet 2017 fetus - - France - - - - - 1 Johan den Dunnen
?/. - c.1526C>T r.(?) p.(Ala509Val) Unknown - VUS g.85446701G>A - TBX18(NM_001080508.2):c.1526C>T (p.(Ala509Val)) - TBX18_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1661T>C r.(?) p.(Phe554Ser) Unknown - likely benign g.85446566A>G - TBX18(NM_001080508.3):c.1661T>C (p.(Phe554Ser)) - TBX18_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1697G>A r.(?) p.(Arg566Gln) Unknown - VUS g.85446530C>T - TBX18(NM_001080508.3):c.1697G>A (p.R566Q) - TBX18_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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