All transcript variants in gene TBX1

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

71 entries on 1 page. Showing entries 1 - 71.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
./. - c.-905068_*2076172dup - r.? p.? g.18839287_21830562dup - - - ARVCF_000005 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
./. - c.-855316_*1709729del - r.0? p.0? g.18889039_21464119del - - - ARVCF_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
./. - c.-850792_*1709729del - r.0? p.0? g.18893563_21464119del - - - ARVCF_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
./. - c.-721192_*1709729del - r.0? p.0? g.19023163_21464119del - - - ARVCF_000004 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.-113G>A likely benign r.(?) p.(=) g.19744242G>A - - - TBX1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-85G>C benign r.(?) p.(=) g.19747082G>C - - - TBX1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-39C>T likely benign r.(?) p.(=) g.19747128C>T - TBX1(NM_080647.1):c.-39C>T - TBX1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-39C>T likely benign r.(?) p.(=) g.19747128C>T - TBX1(NM_080647.1):c.-39C>T - TBX1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.35-14C>T likely benign r.(=) p.(=) g.19748414C>T - - - TBX1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.63G>T likely benign r.(?) p.(=) g.19748456G>T - TBX1(NM_080647.1):c.63G>T (p.L21=) - TBX1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.115G>A likely benign r.(?) p.(Gly39Ser) g.19748508G>A - TBX1(NM_080647.1):c.115G>A (p.G39S) - TBX1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.170C>T likely benign r.(?) p.(Ala57Val) g.19748563C>T - - - TBX1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.199C>A likely benign r.(?) p.(Pro67Thr) g.19748592C>A - TBX1(NM_005992.1):c.199C>A (p.P67T) - TBX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.207C>T likely benign r.(?) p.(=) g.19748600C>T - TBX1(NM_080647.1):c.207C>T (p.A69=) - TBX1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.297G>A benign r.(?) p.(=) g.19748690G>A - TBX1(NM_080647.1):c.297G>A (p.A99=) - TBX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.297G>A benign r.(?) p.(=) g.19748690G>A - TBX1(NM_080647.1):c.297G>A (p.A99=) - TBX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.309_311del likely benign r.(?) p.(Lys103del) g.19748702_19748704del - 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 - - - - - VKGL-NL_Leiden
-?/. - c.309_311del likely benign r.(?) p.(Lys103del) g.19748702_19748704del - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.321G>A likely benign r.(?) p.(=) g.19748714G>A - TBX1(NM_080647.1):c.321G>A (p.V107=) - TBX1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.405C>T likely benign r.(?) p.(=) g.19748798C>T - TBX1(NM_080647.1):c.405C>T (p.A135=) - TBX1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.410+11C>T likely benign r.(=) p.(=) g.19748814C>T - TBX1(NM_080647.1):c.410+11C>T - TBX1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.420T>C benign r.(?) p.(=) g.19750773T>C - TBX1(NM_080647.1):c.420T>C (p.F140=) - TBX1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.420T>C benign r.(?) p.(=) g.19750773T>C - TBX1(NM_080647.1):c.420T>C (p.F140=) - TBX1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.420T>C benign r.(?) p.(=) g.19750773T>C - TBX1(NM_080647.1):c.420T>C (p.F140=) - TBX1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.420T>C benign r.(?) p.(=) g.19750773T>C - TBX1(NM_080647.1):c.420T>C (p.F140=) - TBX1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.444C>T likely benign r.(?) p.(=) g.19750797C>T - TBX1(NM_080647.1):c.444C>T (p.F148=) - TBX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.463G>C VUS r.(?) p.(Asp155His) g.19750816G>C - TBX1(NM_080647.1):c.463G>C (p.D155H) - TBX1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.492G>A likely benign r.(?) p.(=) g.19750845G>A - TBX1(NM_080647.1):c.492G>A (p.P164=) - TBX1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.513-8C>T likely benign r.(=) p.(=) g.19751670C>T - TBX1(NM_080647.1):c.513-8C>T - TBX1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.664C>T benign r.(?) p.(=) g.19751829C>T - TBX1(NM_080647.1):c.664C>T (p.L222=) - TBX1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.664C>T benign r.(?) p.(=) g.19751829C>T - TBX1(NM_080647.1):c.664C>T (p.L222=) - TBX1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.664C>T benign r.(?) p.(=) g.19751829C>T - TBX1(NM_080647.1):c.664C>T (p.L222=) - TBX1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 6 c.734A>G pathogenic (dominant) r.(?) p.(Tyr245Cys) g.19752530A>G g.19765007A>G - - TBX1_000043 - - - - Germline - - - 0 - Jinu Han
-?/. - c.745C>T likely benign r.(?) p.(Arg249Cys) g.19752541C>T - TBX1(NM_005992.1):c.745C>T (p.(Arg249Cys)) - TBX1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.813C>T likely benign r.(?) p.(=) g.19752609C>T - TBX1(NM_080647.1):c.813C>T (p.T271=) - TBX1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.815C>A VUS r.(?) p.(Ala272Glu) g.19752611C>A - - - TBX1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.914G>A likely benign r.(?) p.(Arg305Gln) g.19753430G>A - - - TBX1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.928G>A likely benign r.(?) p.(Gly310Ser) g.19753444G>A - TBX1(NM_080647.1):c.928G>A (p.G310S) - TBX1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.928G>T VUS r.(?) p.(Gly310Cys) g.19753444G>T - TBX1(NM_080647.1):c.928G>T (p.G310C) - TBX1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.933A>G benign r.(?) p.(=) g.19753449A>G - TBX1(NM_080647.1):c.933A>G (p.A311=) - TBX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.933A>G benign r.(?) p.(=) g.19753449A>G - TBX1(NM_080647.1):c.933A>G (p.A311=) - TBX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.933A>G benign r.(?) p.(=) g.19753449A>G - TBX1(NM_080647.1):c.933A>G (p.A311=) - TBX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.933A>G benign r.(?) p.(=) g.19753449A>G - TBX1(NM_080647.1):c.933A>G (p.A311=) - TBX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1009G>A VUS r.(?) p.(Asp337Asn) g.19753525G>A - - - TBX1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1010-7_1010-6del likely benign r.(=) p.(=) g.19753905_19753906del - TBX1(NM_080647.1):c.1010-7_1010-6delTC - TBX1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1049G>A VUS r.(?) p.(Gly350Asp) g.19753951G>A - - - TBX1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1059A>G benign r.(?) p.(=) g.19753961A>G - TBX1(NM_080647.1):c.1059A>G (p.A353=) - TBX1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1059A>G benign r.(?) p.(=) g.19753961A>G - TBX1(NM_080647.1):c.1059A>G (p.A353=) - TBX1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1059A>G benign r.(?) p.(=) g.19753961A>G - TBX1(NM_080647.1):c.1059A>G (p.A353=) - TBX1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1170A>C benign r.(?) p.(=) g.19754072A>C - TBX1(NM_080647.1):c.1170A>C (p.G390=) - TBX1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1189A>C benign r.(?) p.(Asn397His) g.19754091A>C - TBX1(NM_080647.1):c.1189A>C (p.N397H) - TBX1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1189A>C benign r.(?) p.(Asn397His) g.19754091A>C - TBX1(NM_080647.1):c.1189A>C (p.N397H) - TBX1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1189A>C benign r.(?) p.(Asn397His) g.19754091A>C - TBX1(NM_080647.1):c.1189A>C (p.N397H) - TBX1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1215C>T likely benign r.(?) p.(=) g.19754117C>T - TBX1(NM_080647.1):c.1215C>T (p.P405=) - TBX1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1325G>C VUS r.(?) p.(Arg442Pro) g.19754227G>C - TBX1(NM_080647.1):c.1325G>C (p.R442P) - TBX1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1365C>T likely benign r.(?) p.(=) g.19754267C>T - - - TBX1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1375G>C likely benign r.(?) p.(Val459Leu) g.19754277G>C - - - TBX1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1383_1421del likely benign r.(?) p.(Ala464_Ala476del) g.19754285_19754323del - - - TBX1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1404_1406dup VUS r.(?) p.(Ala476dup) g.19754306_19754308dup - - - TBX1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1467C>T likely benign r.(?) p.(=) g.19754369C>T - - - TBX1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1474T>A likely benign r.(?) p.(Tyr492Asn) g.19754376T>A - TBX1(NM_080647.1):c.1474T>A (p.(Tyr492Asn)) - TBX1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.*12392C>T benign r.(=) p.(=) g.19766782C>T - TBX1(NM_080646.1):c.1049C>T (p.T350M) - TBX1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*12392C>T benign r.(=) p.(=) g.19766782C>T - TBX1(NM_080646.1):c.1049C>T (p.T350M) - TBX1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.*12438A>G likely benign r.(=) p.(=) g.19766828A>G - TBX1(NM_080646.1):c.1095A>G (p.A365=, p.=) - TBX1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*12438A>G likely benign r.(=) p.(=) g.19766828A>G - TBX1(NM_080646.1):c.1095A>G (p.A365=, p.=) - TBX1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*12438A>G likely benign r.(=) p.(=) g.19766828A>G - TBX1(NM_080646.1):c.1095A>G (p.A365=, p.=) - TBX1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*12505G>A likely benign r.(=) p.(=) g.19766895G>A - TBX1(NM_080646.1):c.1162G>A (p.V388M) - TBX1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*12505G>A likely benign r.(=) p.(=) g.19766895G>A - TBX1(NM_080646.1):c.1162G>A (p.V388M) - TBX1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*12551C>T likely benign r.(=) p.(=) g.19766941C>T - - - TBX1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*12661G>T benign r.(=) p.(=) g.19767051G>T - - - TBX1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*16128G>C likely benign r.(=) p.(=) g.19770518G>C - TBX1(NM_005992.1):c.1092G>C (p.L364=) - TBX1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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