Full data view for gene TBX1

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

95 entries on 1 page. Showing entries 1 - 95.
Legend  

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 - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 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 - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - 0 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 - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 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 - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-85G>C r.(?) p.(=) Unknown - benign g.19747082G>C g.19759559G>C - - TBX1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-39C>T r.(?) p.(=) Unknown - likely benign g.19747128C>T g.19759605C>T TBX1(NM_080647.1):c.-39C>T - 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 - TBX1_000022 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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.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_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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_080647.1):c.297G>A (p.A99=) - TBX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.297G>A r.(?) p.(Ala99=) Unknown - benign g.19748690G>A g.19761167G>A TBX1(NM_080647.1):c.297G>A (p.A99=) - TBX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.297G>A r.(?) p.(Ala99=) Unknown - benign g.19748690G>A - TBX1(NM_080647.1):c.297G>A (p.A99=) - TBX1_000002 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 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 - - - 0 - DNA ? - - ? - PubMed: Xu 2014, PubMed: Xu 2014 - - - - - - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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.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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 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 - - - 0 - DNA ? - - ? - PubMed: Yagi 2003, PubMed: Zweier 2007 - - - - - - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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.492G>A r.(?) p.(Pro164=) Unknown - likely benign g.19750845G>A g.19763322G>A TBX1(NM_080647.1):c.492G>A (p.P164=) - TBX1_000045 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 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 - - - 0 - DNA ? - - ? - PubMed: Gong 2001 - - - - - - 0 - - 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 - - - 0 - DNA ? - - velocardiofacial syndrome - PubMed: Zweier 2007, PubMed: Fung 2015, PubMed: McDonald-McGinn 1993 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.734A>G r.(?) p.(Tyr245Cys) Maternal (confirmed) - pathogenic (dominant) g.19752530A>G g.19765007A>G - - TBX1_000043 - - - - Germline - - - 0 - DNA SEQ-NG blood WES JBTS - - - - - - - - 0 - - 1 Jinu Han
-?/. - 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.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.815C>A r.(?) p.(Ala272Glu) Unknown - VUS g.19752611C>A g.19765088C>A - - TBX1_000046 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 - - - 0 - DNA ? - - ? - PubMed: Gong 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.914G>A r.(?) p.(Arg305Gln) Unknown - likely benign g.19753430G>A g.19765907G>A - - TBX1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - 0 - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.928G>T r.(?) p.(Gly310Cys) Unknown - VUS g.19753444G>T g.19765921G>T TBX1(NM_080647.1):c.928G>T (p.G310C) - TBX1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.933A>G r.(?) p.(Ala311=) Unknown - benign g.19753449A>G g.19765926A>G TBX1(NM_080647.1):c.933A>G (p.A311=) - TBX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.933A>G r.(?) p.(Ala311=) Unknown - benign g.19753449A>G g.19765926A>G TBX1(NM_080647.1):c.933A>G (p.A311=) - TBX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.933A>G r.(?) p.(Ala311=) Unknown - benign g.19753449A>G g.19765926A>G TBX1(NM_080647.1):c.933A>G (p.A311=) - TBX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.933A>G r.(?) p.(Ala311=) Unknown - benign g.19753449A>G g.19765926A>G TBX1(NM_080647.1):c.933A>G (p.A311=) - TBX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1009G>A r.(?) p.(Asp337Asn) Unknown - VUS g.19753525G>A g.19766002G>A - - TBX1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1010-7_1010-6del r.(=) p.(=) Unknown - likely benign g.19753905_19753906del g.19766382_19766383del TBX1(NM_080647.1):c.1010-7_1010-6delTC - TBX1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1049G>A r.(?) p.(Gly350Asp) Unknown - VUS g.19753951G>A g.19766428G>A - - TBX1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.1049G>A r.(?) p.(Gly350Asp) Parent #1 - pathogenic g.19753951G>A g.19766428G>A - - TBX1_000033 - MORL Deafness Variation Database, PubMed: Gong 2001 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Gong 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.1059A>G r.(?) p.(Ala353=) Unknown - benign g.19753961A>G g.19766438A>G TBX1(NM_080647.1):c.1059A>G (p.A353=) - TBX1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1059A>G r.(?) p.(Ala353=) Unknown - benign g.19753961A>G g.19766438A>G TBX1(NM_080647.1):c.1059A>G (p.A353=) - TBX1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1059A>G r.(?) p.(Ala353=) Unknown - benign g.19753961A>G g.19766438A>G TBX1(NM_080647.1):c.1059A>G (p.A353=) - TBX1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1068G>T r.(?) p.(Gly356=) Unknown - likely benign g.19753970G>T g.19766447G>T TBX1(NM_080647.1):c.1068G>T (p.G356=) - TBX1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 9 c.1135_1143del r.(?) p.(Ala379_Gly381del) Parent #1 - likely pathogenic g.19754037_19754045del g.19766514_19766522del - - TBX1_000058 - MORL Deafness Variation Database, PubMed: Rauch 2004 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Rauch 2004 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.1170A>C r.(?) p.(Gly390=) Unknown - benign g.19754072A>C g.19766549A>C TBX1(NM_080647.1):c.1170A>C (p.G390=) - TBX1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 9 c.1187C>T r.(?) p.(Pro396Leu) Parent #1 - pathogenic g.19754089C>T g.19766566C>T - - TBX1_000059 - MORL Deafness Variation Database, PubMed: Gong 2001 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Gong 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.1189A>C r.(?) p.(Asn397His) Unknown - benign g.19754091A>C g.19766568A>C TBX1(NM_080647.1):c.1189A>C (p.N397H) - TBX1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1189A>C r.(?) p.(Asn397His) Unknown - benign g.19754091A>C g.19766568A>C TBX1(NM_080647.1):c.1189A>C (p.N397H) - TBX1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1189A>C r.(?) p.(Asn397His) Unknown - benign g.19754091A>C g.19766568A>C TBX1(NM_080647.1):c.1189A>C (p.N397H) - TBX1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1215C>T r.(?) p.(Pro405=) Unknown - likely benign g.19754117C>T g.19766594C>T TBX1(NM_080647.1):c.1215C>T (p.P405=) - TBX1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 9 c.1223del r.(?) p.(Ser408Trpfs*52) Parent #1 - pathogenic g.19754125del g.19766602del - - TBX1_000060 - MORL Deafness Variation Database, PubMed: Yagi 2003, PubMed: Stoller 2005 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Yagi 2003, PubMed: Stoller 2005 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 9 c.1232T>C r.(?) p.(Leu411Pro) Parent #1 - pathogenic g.19754134T>C g.19766611T>C - - TBX1_000061 - MORL Deafness Variation Database, PubMed: Torres-Juan 2007 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Torres-Juan 2007 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 9 c.1253del r.(?) p.(Tyr418Phefs*42) Parent #1 - pathogenic g.19754155del g.19766632del - - TBX1_000062 - MORL Deafness Variation Database, PubMed: Ogata 2014 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Ogata 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 9 c.1274_1281del r.(?) p.(His425Argfs*189) Parent #1 - pathogenic g.19754176_19754183del g.19766653_19766660del - - TBX1_000063 - MORL Deafness Variation Database, PubMed: Gong 2001 - - SUMMARY record - - - 0 - DNA ? - - DiGeorge syndrome - PubMed: Gong 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1309C>T r.(?) p.(Pro437Ser) Unknown - VUS g.19754211C>T - TBX1(NM_080647.1):c.1309C>T (p.P437S) - chr22_002995 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1325G>C r.(?) p.(Arg442Pro) Unknown - VUS g.19754227G>C g.19766704G>C TBX1(NM_080647.1):c.1325G>C (p.R442P) - TBX1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.1334_1348del r.(?) p.(Gly445_His449del) Parent #1 - pathogenic g.19754236_19754250del g.19766713_19766727del - - TBX1_000064 - MORL Deafness Variation Database, PubMed: Gong 2001 - - SUMMARY record - - - 0 - DNA ? - - DiGeorge syndrome - PubMed: Gong 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.1353T>G r.(?) p.(His451Gln) Unknown - likely benign g.19754255T>G - TBX1(NM_080647.1):c.1353T>G (p.(His451Gln)) - TBX1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1365C>T r.(?) p.(His455=) Unknown - likely benign g.19754267C>T g.19766744C>T - - TBX1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.1370_1372dup r.(?) p.(His457dup) Parent #1 - pathogenic g.19754272_19754274dup g.19766749_19766751dup - - TBX1_000065 - MORL Deafness Variation Database, PubMed: Gong 2001 - - SUMMARY record - - - 0 - DNA ? - - velocardiofacial syndrome - PubMed: Gong 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.1374C>T r.(?) p.(Pro458=) Unknown - likely benign g.19754276C>T - TBX1(NM_080647.1):c.1374C>T (p.P458=) - TBX1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1375G>C r.(?) p.(Val459Leu) Unknown - likely benign g.19754277G>C g.19766754G>C - - TBX1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1383_1421del r.(?) p.(Ala464_Ala476del) Unknown - likely benign g.19754285_19754323del g.19766762_19766800del - - TBX1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1404_1406dup r.(?) p.(Ala476dup) Unknown - VUS g.19754306_19754308dup g.19766783_19766785dup - - TBX1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.1404_1412del r.(?) p.(Ala474_Ala476del) Parent #1 - pathogenic g.19754306_19754314del g.19766783_19766791del - - TBX1_000066 - MORL Deafness Variation Database, PubMed: Gong 2001 - - SUMMARY record - - - 0 - DNA ? - - DiGeorge syndrome - PubMed: Gong 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.1467C>T r.(?) p.(Ser489=) Unknown - likely benign g.19754369C>T g.19766846C>T - - TBX1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1474T>A r.(?) p.(Tyr492Asn) Unknown - likely benign g.19754376T>A g.19766853T>A TBX1(NM_080647.1):c.1474T>A (p.(Tyr492Asn)) - TBX1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*12392C>T r.(=) p.(=) Unknown - benign g.19766782C>T g.19779259C>T TBX1(NM_080646.1):c.1049C>T (p.T350M) - TBX1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*12392C>T r.(=) p.(=) Unknown - benign g.19766782C>T g.19779259C>T TBX1(NM_080646.1):c.1049C>T (p.T350M) - TBX1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*12438A>G r.(=) p.(=) Unknown - likely benign g.19766828A>G g.19779305A>G TBX1(NM_080646.1):c.1095A>G (p.A365=, p.=) - TBX1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*12438A>G r.(=) p.(=) Unknown - likely benign g.19766828A>G g.19779305A>G TBX1(NM_080646.1):c.1095A>G (p.A365=, p.=) - TBX1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12438A>G r.(=) p.(=) Unknown - likely benign g.19766828A>G g.19779305A>G TBX1(NM_080646.1):c.1095A>G (p.A365=, p.=) - TBX1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12505G>A r.(=) p.(=) Unknown - likely benign g.19766895G>A g.19779372G>A TBX1(NM_080646.1):c.1162G>A (p.V388M) - TBX1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12505G>A r.(=) p.(=) Unknown - likely benign g.19766895G>A g.19779372G>A TBX1(NM_080646.1):c.1162G>A (p.V388M) - TBX1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12551C>T r.(=) p.(=) Unknown - likely benign g.19766941C>T g.19779418C>T - - TBX1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*12661G>T r.(=) p.(=) Unknown - benign g.19767051G>T g.19779528G>T - - TBX1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*16128G>C r.(=) p.(=) Unknown - likely benign g.19770518G>C g.19782995G>C TBX1(NM_005992.1):c.1092G>C (p.L364=) - TBX1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend