Full data view for gene TBX19

Information The variants shown are described using the NM_005149.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.75_78del r.(?) p.(Glu26Phefs*35) Both (homozygous) ACMG pathogenic (recessive) g.168250403_168250406del g.168281165_168281168del 75_78delTGAG - TBX19_000016 - PubMed: Helbig 2016 - - Germline - - - - - DNA SEQ-NG - WES seizures Pat85 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.78G>A r.(?) p.(Glu26=) Unknown - likely benign g.168250406G>A - TBX19(NM_005149.2):c.78G>A (p.E26=) - TBX19_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.172A>G r.(?) p.(Thr58Ala) Both (homozygous) ACMG likely pathogenic (recessive) g.168250500A>G - - - TBX19_000019 ACMG: PS3, PM2_SUP, PM3_SUP, PP3 PMID: 28458651, 15613420, 22170728 - - Germline ? - - - - DNA SEQ-NG-I - - IAD 179855 - - M ? Turkey - - - - - 1 Andreas Laner
?/. - c.182T>C r.(?) p.(Met61Thr) Unknown - VUS g.168250510T>C g.168281272T>C - - TBX19_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204-3T>C r.spl? p.? Unknown - likely benign g.168260395T>C g.168291157T>C TBX19(NM_005149.3):c.204-3T>C - TBX19_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204-3T>C r.spl? p.? Unknown - likely benign g.168260395T>C - TBX19(NM_005149.3):c.204-3T>C - TBX19_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.535C>T r.(?) p.(Arg179Ter) Unknown - pathogenic g.168262448C>T g.168293210C>T TBX19(NM_005149.3):c.535C>T (p.R179*) - TBX19_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.535C>T r.(?) p.(Arg179Ter) Unknown - pathogenic g.168262448C>T - TBX19(NM_005149.3):c.535C>T (p.R179*) - TBX19_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.554C>T r.(?) p.(Ser185Phe) Unknown - likely pathogenic g.168262467C>T - - - TBX19_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.603+10_603+11insTT r.(=) p.(=) Unknown - benign g.168262526_168262527insTT g.168293288_168293289insTT TBX19(NM_005149.2):c.603+9_603+10insTT - TBX19_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.603+11G>T r.(=) p.(=) Unknown - benign g.168262527G>T g.168293289G>T - - TBX19_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.603+47_603+48dup r.(=) p.(=) Unknown - benign g.168262563_168262564dup g.168293325_168293326dup TBX19(NM_005149.2):c.603+47_603+48dupGT - TBX19_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.761T>C r.(?) p.(Val254Ala) Unknown - likely benign g.168274279T>C g.168305041T>C TBX19(NM_005149.2):c.761T>C (p.V254A) - TBX19_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.782del r.(?) p.(Asn261IlefsTer46) Unknown - pathogenic g.168274300del - TBX19(NM_005149.2):c.782delA (p.N261Ifs*46), TBX19(NM_005149.3):c.782delA (p.N261Ifs*46) - TBX19_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.782del r.(?) p.(Asn261IlefsTer46) Unknown - pathogenic g.168274300del - TBX19(NM_005149.2):c.782delA (p.N261Ifs*46), TBX19(NM_005149.3):c.782delA (p.N261Ifs*46) - TBX19_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.809T>C r.(?) p.(Leu270Pro) Unknown - VUS g.168274327T>C - TBX19(NM_005149.2):c.809T>C (p.L270P) - TBX19_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.840del r.(840del) p.(Glu280Aspfs*27) Both (homozygous) ACMG pathogenic (recessive) g.168274358del g.168305120del - - TBX19_000021 - PubMed: Charnay 2023, Journal: Charnay 2023 - - Germline yes - - - - DNA SEQ-NG-I - - IAD Fam3PatII3/4 PubMed: Charnay 2023, Journal: Charnay 2023 2-generation family, affected brother/sister, unaffected heterozygous carrier parentsneonatal F;M yes France Morocco >07y - - - 2 Alexandru SAVEANU
+/. - c.840del r.(840del) p.(Glu280AspfsTer27) Both (homozygous) - pathogenic (recessive) g.168274358del g.168305120del - - TBX19_000021 - PubMed: Charnay 2023, Journal: Charnay 2023 - - Germline yes - - - - DNA SEQ - - IAD Fam1PatIv4 PubMed: Charnay 2023, Journal: Charnay 2023 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Morocco - - - - - 1 Johan den Dunnen
+/. - c.840del r.(840del) p.(Glu280AspfsTer27) Both (homozygous) - pathogenic (recessive) g.168274358del g.168305120del - - TBX19_000021 - PubMed: Charnay 2023, Journal: Charnay 2023 - - Germline yes - - - - DNA SEQ - - IAD Fam2PatIV1 PubMed: Charnay 2023, Journal: Charnay 2023 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - France Morocco - - - - 1 Johan den Dunnen
+?/. - c.856C>T r.(?) p.(Arg286Ter) Unknown - likely pathogenic g.168274374C>T g.168305136C>T TBX19(NM_005149.2):c.856C>T (p.R286*) - TBX19_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*21T>A r.(=) p.(=) Unknown - benign g.168282261T>A g.168313023T>A - - TBX19_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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