Full data view for gene TBX1

Information The variants shown are described using the NM_080647.1 transcript reference sequence.

174 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.-905068_*2076172dup r.? p.? Unknown - pathogenic (recessive) g.18839287_21830562dup - - - ARVCF_000005 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-855316_*1709729del r.0? p.0? Unknown - pathogenic (recessive) g.18889039_21464119del - - - ARVCF_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
./. - c.-850792_*1709729del r.0? p.0? Unknown - pathogenic (recessive) g.18893563_21464119del - - - ARVCF_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-721192_*1709729del r.0? p.0? Unknown - pathogenic (recessive) g.19023163_21464119del - - - ARVCF_000004 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.-113G>A r.(?) p.(=) Unknown - likely benign g.19744242G>A g.19756719G>A - - TBX1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-85G>C r.(?) p.(=) Unknown - benign g.19747082G>C g.19759559G>C - - TBX1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-39C>T r.(?) p.(=) Unknown - likely benign g.19747128C>T g.19759605C>T TBX1(NM_080647.1):c.-39C>T (p.?) - TBX1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-39C>T r.(?) p.(=) Unknown - likely benign g.19747128C>T g.19759605C>T TBX1(NM_080647.1):c.-39C>T (p.?) - TBX1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-39C>T r.(?) p.(=) Unknown - likely benign g.19747128C>T - TBX1(NM_080647.1):c.-39C>T (p.?) - TBX1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.3_27dup r.(3_27dup) p.(Met10Alafs*167) Parent #1 ACMG pathogenic (dominant) g.19747169_19747193dup g.19759646_19759670dup - - TBX1_000119 - - - - Germline yes - - - - DNA SEQ-NG-I peripheral blood WES cardiomyopathy, hypertrophic, early-onset fatal patient - - M - China - - - - - 1 Jilin Hu
-?/. - c.35-17T>G r.(=) p.(=) Unknown - likely benign g.19748411T>G - - - TBX1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.35-14C>T r.(=) p.(=) Unknown - likely benign g.19748414C>T g.19760891C>T - - TBX1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.58A>G r.(?) p.(Ser20Gly) Unknown - VUS g.19748451A>G - TBX1(NM_001379200.1):c.85A>G (p.(Ser29Gly)) - TBX1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63G>T r.(?) p.(Leu21=) Unknown - likely benign g.19748456G>T g.19760933G>T TBX1(NM_080647.1):c.63G>T (p.L21=) - TBX1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.68C>T r.(?) p.(Ala23Val) Parent #1 ACMG likely benign g.19748461C>T g.19760938C>T - - TBX1_000082 ACMG BP1, BP4, PP3 PubMed: Estandia-Ortega 2022 VCV000959519.2 rs1415687525 Germline/De novo (untested) - 1/49 patients BtgI-, HaeIII-, MspA1I-, SacII-, Sau96I- - - DNA SEQ-NG-I gDNA from peripheral blood gene-panel sequencing OAS EFAV_45 PubMed: Estandia-Ortega 2022 4 patients (4 male) M no Mexico - - - - none 1 Miriam Erandi Reyna-Fabián
-/. - c.75G>T r.(?) p.(Gly25=) Unknown - benign g.19748468G>T - TBX1(NM_001379200.1):c.102G>T (p.(Gly34=)), TBX1(NM_080647.1):c.75G>T (p.G25=) - TBX1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75G>T r.(?) p.(Gly25=) Unknown - likely benign g.19748468G>T - TBX1(NM_001379200.1):c.102G>T (p.(Gly34=)), TBX1(NM_080647.1):c.75G>T (p.G25=) - TBX1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99C>G r.(?) p.(Pro33=) Unknown - likely benign g.19748492C>G g.19760969C>G TBX1(NM_080647.1):c.99C>G (p.P33=) - TBX1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115G>A r.(?) p.(Gly39Ser) Unknown - likely benign g.19748508G>A g.19760985G>A TBX1(NM_080647.1):c.115G>A (p.G39S) - TBX1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.146_202del r.(?) p.(Arg49_Pro67del) Unknown - VUS g.19748539_19748595del - TBX1(NM_080647.1):c.146_202del (p.R49_P67del) - TBX1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170C>T r.(?) p.(Ala57Val) Unknown - likely benign g.19748563C>T g.19761040C>T - - TBX1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.199C>A r.(?) p.(Pro67Thr) Unknown - likely benign g.19748592C>A g.19761069C>A TBX1(NM_005992.1):c.199C>A (p.P67T), TBX1(NM_080647.1):c.199C>A (p.(Pro67Thr)) - TBX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.199C>A r.(?) p.(Pro67Thr) Unknown - likely benign g.19748592C>A - TBX1(NM_005992.1):c.199C>A (p.P67T), TBX1(NM_080647.1):c.199C>A (p.(Pro67Thr)) - TBX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207C>T r.(?) p.(Ala69=) Unknown - likely benign g.19748600C>T g.19761077C>T TBX1(NM_080647.1):c.207C>T (p.A69=) - TBX1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.297G>A r.(?) p.(Ala99=) Unknown - benign g.19748690G>A g.19761167G>A TBX1(NM_001379200.1):c.324G>A (p.(Ala108=)), TBX1(NM_080647.1):c.297G>A (p.A99=) - TBX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.297G>A r.(?) p.(Ala99=) Unknown - benign g.19748690G>A g.19761167G>A TBX1(NM_001379200.1):c.324G>A (p.(Ala108=)), TBX1(NM_080647.1):c.297G>A (p.A99=) - TBX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.297G>A r.(?) p.(Ala99=) Unknown - benign g.19748690G>A - TBX1(NM_001379200.1):c.324G>A (p.(Ala108=)), TBX1(NM_080647.1):c.297G>A (p.A99=) - TBX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297G>A r.(?) p.(Ala99=) Unknown - likely benign g.19748690G>A - TBX1(NM_001379200.1):c.324G>A (p.(Ala108=)), TBX1(NM_080647.1):c.297G>A (p.A99=) - TBX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301G>A r.(?) p.(Val101Met) Unknown - VUS g.19748694G>A - TBX1(NM_080647.1):c.301G>A (p.(Val101Met)) - TBX1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301G>T r.(?) p.(Val101Leu) Unknown - VUS g.19748694G>T - TBX1(NM_001379200.1):c.328G>T (p.(Val101Leu)) - TBX1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309_311del r.(?) p.(Lys103del) Unknown - likely benign g.19748702_19748704del g.19761179_19761181del TBX1(NM_005992.1):c.303_305del (p.(Lys103del)), TBX1(NM_080647.1):c.309_311delGAA (p.K103del) - TBX1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309_311del r.(?) p.(Lys103del) Unknown - likely benign g.19748702_19748704del g.19761179_19761181del TBX1(NM_005992.1):c.303_305del (p.(Lys103del)), TBX1(NM_080647.1):c.309_311delGAA (p.K103del) - TBX1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321G>A r.(?) p.(Val107=) Unknown - likely benign g.19748714G>A g.19761191G>A TBX1(NM_080647.1):c.321G>A (p.V107=) - TBX1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.385G>A r.(?) p.(Glu129Lys) Parent #1 - pathogenic g.19748778G>A g.19761255G>A - - TBX1_000053 - MORL Deafness Variation Database, PubMed: Xu 2014, PubMed: Xu 2014 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Xu 2014, PubMed: Xu 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.405C>T r.(?) p.(Ala135=) Unknown - likely benign g.19748798C>T g.19761275C>T TBX1(NM_080647.1):c.405C>T (p.A135=) - TBX1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.405C>T r.(?) p.(Ala135=) Unknown - likely benign g.19748798C>T - TBX1(NM_080647.1):c.405C>T (p.A135=) - TBX1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.410+11C>T r.(=) p.(=) Unknown - likely benign g.19748814C>T g.19761291C>T TBX1(NM_080647.1):c.410+11C>T - TBX1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.410+705C>G r.? p.? Unknown - benign (recessive) g.19749508C>G g.19761985C>G - - TBX1_000103 variant modulates gene expression, influencing morphology skull base and vertebral structures PubMed: Funato 2024, Journal: Funato 2024 - rs41298798 Germline - - - - - DNA arraySNP - - ? - PubMed: Funato 2024, Journal: Funato 2024 - - - - (not applicable) - - - - - 1 Johan den Dunnen
?/. - c.411-5C>G r.spl? p.? Unknown - VUS g.19750759C>G - TBX1(NM_080647.1):c.411-5C>G - TBX1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.412C>T r.(?) p.(Arg138Trp) Unknown - likely pathogenic g.19750765C>T g.19763242C>T - - TBX1_000095 - PubMed: Miszalski-Jamka 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - LVNC Pat43 PubMed: Miszalski-Jamka 2017 case solved - - - - - - - - 1 Johan den Dunnen
+?/. - c.413G>A r.(?) p.(Arg138Gln) Unknown - VUS g.19750766G>A g.19763243G>A NM_080646.2:c.413G>A - TBX1_000114 - PubMed: Mansoorshahi 2024 - rs766405525 Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV483 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
-/. - c.420T>C r.(?) p.(Phe140=) Unknown - benign g.19750773T>C g.19763250T>C TBX1(NM_080647.1):c.420T>C (p.F140=) - TBX1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.420T>C r.(?) p.(Phe140=) Unknown - benign g.19750773T>C g.19763250T>C TBX1(NM_080647.1):c.420T>C (p.F140=) - TBX1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.420T>C r.(?) p.(Phe140=) Unknown - benign g.19750773T>C g.19763250T>C TBX1(NM_080647.1):c.420T>C (p.F140=) - TBX1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.420T>C r.(?) p.(Phe140=) Unknown - benign g.19750773T>C g.19763250T>C TBX1(NM_080647.1):c.420T>C (p.F140=) - TBX1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.443T>A r.(?) p.(Phe148Tyr) Parent #1 - pathogenic g.19750796T>A g.19763273T>A - - TBX1_000054 - MORL Deafness Variation Database, PubMed: Yagi 2003, PubMed: Zweier 2007 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Yagi 2003, PubMed: Zweier 2007 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.444C>T r.(?) p.(Phe148=) Unknown - likely benign g.19750797C>T g.19763274C>T TBX1(NM_080647.1):c.444C>T (p.F148=) - TBX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.444C>T r.(?) p.(Phe148=) Unknown - benign g.19750797C>T - TBX1(NM_080647.1):c.444C>T (p.F148=) - TBX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445G>A r.(?) p.(Gly149Ser) Unknown - VUS g.19750798G>A - TBX1(NM_080647.1):c.445G>A (p.G149S) - TBX1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.453T>A r.(?) p.(Asp151Glu) Unknown - VUS g.19750806T>A - TBX1(NM_080647.1):c.453T>A (p.D151E) - TBX1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.463G>C r.(?) p.(Asp155His) Unknown - VUS g.19750816G>C g.19763293G>C TBX1(NM_080647.1):c.463G>C (p.D155H) - TBX1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.491C>T r.(?) p.(Pro164Leu) Unknown - VUS g.19750844C>T - - - TBX1_000076 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.491C>T r.(?) p.(Pro164Leu) Unknown - VUS g.19750844C>T - - - TBX1_000076 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.492G>A r.(?) p.(Pro164=) Unknown - likely benign g.19750845G>A - TBX1(NM_080647.1):c.492G>A (p.P164=) - TBX1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.512+6C>T r.(=) p.(=) Unknown - likely benign g.19750871C>T - TBX1(NM_001379200.1):c.539+6C>T - TBX1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.513-16C>T r.(=) p.(=) Unknown - likely benign g.19751662C>T g.19764139C>T TBX1(NM_080647.1):c.513-16C>T - TBX1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.513-8C>T r.(=) p.(=) Unknown - likely benign g.19751670C>T g.19764147C>T TBX1(NM_080647.1):c.513-8C>T - TBX1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.513-8C>T r.(=) p.(=) Unknown - likely benign g.19751670C>T g.19764147C>T TBX1(NM_080647.1):c.513-8C>T - TBX1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.517G>A r.(?) p.(Ala173Thr) Unknown - VUS g.19751682G>A - TBX1(NM_080647.1):c.517G>A (p.A173T) - TBX1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.576C>T r.(=) p.(=) Parent #1 - pathogenic g.19751741C>T g.19764218C>T - - TBX1_000055 - MORL Deafness Variation Database, PubMed: Gong 2001 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Gong 2001 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.582C>G r.(?) p.(His194Gln) Parent #1 - pathogenic g.19751747C>G g.19764224C>G - - TBX1_000056 - MORL Deafness Variation Database, PubMed: Zweier 2007, PubMed: Fung 2015, PubMed: McDonald-McGinn 1993 - - SUMMARY record - - - - - DNA ? - - VCFS - PubMed: Zweier 2007, PubMed: Fung 2015, PubMed: McDonald-McGinn 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.590C>T r.(?) p.(Pro197Leu) Unknown - VUS g.19751755C>T - TBX1(NM_080647.1):c.590C>T (p.(Pro197Leu)) - TBX1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.664C>T r.(?) p.(Leu222=) Unknown - benign g.19751829C>T g.19764306C>T TBX1(NM_080647.1):c.664C>T (p.L222=) - TBX1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.664C>T r.(?) p.(Leu222=) Unknown - benign g.19751829C>T g.19764306C>T TBX1(NM_080647.1):c.664C>T (p.L222=) - TBX1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.664C>T r.(?) p.(Leu222=) Unknown - benign g.19751829C>T g.19764306C>T TBX1(NM_080647.1):c.664C>T (p.L222=) - TBX1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.672C>T r.(?) p.(Asp224=) Unknown - likely benign g.19751837C>T - TBX1(NM_080647.1):c.672C>T (p.D224=) - TBX1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.678C>T r.(?) p.(Asn226=) Unknown - likely benign g.19751843C>T - TBX1(NM_080647.1):c.678C>T (p.N226=) - TBX1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.710A>G r.(?) p.(Tyr237Cys) Unknown - VUS g.19752506A>G - TBX1(NM_080647.1):c.710A>G (p.Y237C) - TBX1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.734A>G r.(?) p.(Tyr245Cys) Maternal (confirmed) - pathogenic (dominant) g.19752530A>G g.19765007A>G - - TBX1_000043 - - - - Germline - - - - - DNA SEQ-NG blood WES JBTS - - - - - - - - - - - 1 Jinu Han
?/. - c.734A>G r.(?) p.(Tyr245Cys) Maternal (confirmed) ACMG VUS g.19752530A>G g.19765007A>G c.734A>G:p.(Tyr245Cys) - TBX1_000043 heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 9 PubMed: Surl 2020 - F - Korea - - - - - 1 LOVD
-?/. - c.745C>T r.(?) p.(Arg249Cys) Unknown - likely benign g.19752541C>T g.19765018C>T TBX1(NM_005992.1):c.745C>T (p.(Arg249Cys)) - TBX1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.749A>G r.(?) p.(Lys250Arg) Unknown - VUS g.19752545A>G - - - TBX1_000077 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.813C>T r.(?) p.(Thr271=) Unknown - likely benign g.19752609C>T g.19765086C>T TBX1(NM_080647.1):c.813C>T (p.T271=) - TBX1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.813C>T r.(?) p.(Thr271=) Unknown - benign g.19752609C>T - TBX1(NM_080647.1):c.813C>T (p.T271=) - TBX1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.815C>A r.(?) p.(Ala272Glu) Unknown - VUS g.19752611C>A g.19765088C>A - - TBX1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.868C>T r.(?) p.(Pro290Ser) Unknown - VUS g.19753308C>T - TBX1(NM_080647.1):c.868C>T (p.(Pro290Ser)) - TBX1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.868C>T r.(?) p.(Pro290Ser) Unknown - VUS g.19753308C>T - TBX1(NM_080647.1):c.868C>T (p.(Pro290Ser)) - TBX1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 7 c.886C>A r.(=) p.(=) Parent #1 - likely pathogenic g.19753326C>A g.19765803C>A - - TBX1_000057 - MORL Deafness Variation Database, PubMed: Gong 2001 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Gong 2001 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.908G>A r.(?) p.(Trp303*) Unknown - pathogenic g.19753348G>A - - - TBX1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.908+1G>A r.spl? p.? Unknown - VUS g.19753349G>A - TBX1(NM_001379200.1):c.935+1G>A - TBX1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.908+2T>C r.spl? p.? Unknown - pathogenic g.19753350T>C - TBX1(NM_080647.1):c.908+2T>C - TBX1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.914G>A r.(?) p.(Arg305Gln) Unknown - likely benign g.19753430G>A g.19765907G>A - - TBX1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.927del r.(?) p.(Gly310Alafs*6) Unknown - pathogenic g.19753443del - TBX1(NM_080647.1):c.927delC (p.G310Afs*6) - TBX1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - likely benign g.19753444G>A g.19765921G>A TBX1(NM_080647.1):c.928G>A (p.G310S) - TBX1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - benign g.19753444G>A g.19765921G>A - - TBX1_000009 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.044 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
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