List of variants reported as pathogenic for aortic disorder by Invitae

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 145

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HGVS	dbSNP	gnomAD frequency
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)	rs104894378	0.00001
NC_000007.13:g.(?_73150889)_(73604636_?)del
NC_000007.13:g.(?_73442119)_(73484237_?)del
NC_000007.13:g.(?_73442498)_(73483050_?)del
NC_000007.13:g.(?_73442518)_(73449764_?)del
NC_000007.13:g.(?_73442518)_(73483030_?)del
NC_000007.13:g.(?_73461985)_(73483030_?)del
NC_000007.13:g.(?_73471702)_(73483040_?)del
NC_000007.13:g.(?_73482987)_(73484237_?)del
NC_000007.14:g.(?_74028168)_(74028289_?)del
NC_000007.14:g.(?_74028178)_(74068710_?)del
NC_000007.14:g.(?_74035344)_(74068720_?)del
NC_000007.14:g.(?_74068637)_(74068720_?)del
NC_000012.11:g.(?_114793317)_(114841723_?)del
NC_000012.11:g.(?_114793327)_(114793921_?)del
NC_000012.11:g.(?_114793337)_(114837457_?)del
NC_000012.11:g.(?_114803950)_(114804216_?)dup
NC_000012.11:g.(?_114823261)_(114823392_?)del
NC_000012.11:g.(?_114837390)_(114846189_?)del
NC_000012.12:g.(?_114394721)_(114394913_?)del
NC_000012.12:g.(?_114401806)_(114401940_?)del
NC_000012.12:g.(?_114401816)_(114401930_?)del
NM_000501.4(ELN):c.1040del (p.Pro347fs)	rs1563826213
NM_000501.4(ELN):c.1075_1082dup (p.Ala362fs)	rs2131925210
NM_000501.4(ELN):c.1101del (p.Val368fs)	rs863223520
NM_000501.4(ELN):c.1111del (p.Glu371fs)
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)	rs199621188
NM_000501.4(ELN):c.1168G>T (p.Gly390Ter)	rs372889752
NM_000501.4(ELN):c.1190dup (p.Tyr397Ter)	rs1795205877
NM_000501.4(ELN):c.1191_1199del (p.Tyr397_Gly400delinsTer)	rs2132059492
NM_000501.4(ELN):c.1191del (p.Thr396_Tyr397insTer)
NM_000501.4(ELN):c.1217dup (p.Phe407fs)
NM_000501.4(ELN):c.1227del (p.Gly410fs)	rs1563836689
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter)	rs200862792
NM_000501.4(ELN):c.1292del (p.Gly431fs)
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)	rs137854452
NM_000501.4(ELN):c.1351A>T (p.Lys451Ter)	rs2132079396
NM_000501.4(ELN):c.1393dup (p.Ala465fs)	rs2132135741
NM_000501.4(ELN):c.1452_1453insA (p.Val485fs)	rs2132288547
NM_000501.4(ELN):c.1482del (p.Val495fs)	rs1583959262
NM_000501.4(ELN):c.1539del (p.Gly514fs)
NM_000501.4(ELN):c.163+2T>A
NM_000501.4(ELN):c.163+2T>C	rs1584494326
NM_000501.4(ELN):c.1654G>T (p.Gly552Ter)
NM_000501.4(ELN):c.166del (p.Leu56fs)	rs2131266202
NM_000501.4(ELN):c.1679del (p.Pro560fs)	rs2132320442
NM_000501.4(ELN):c.1706del (p.Pro569fs)
NM_000501.4(ELN):c.171del (p.Pro58fs)	rs1554666513
NM_000501.4(ELN):c.1817del (p.Leu606fs)	rs1797063858
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter)	rs727503034
NM_000501.4(ELN):c.192del (p.Lys64fs)
NM_000501.4(ELN):c.1973del (p.Pro658fs)
NM_000501.4(ELN):c.1A>G (p.Met1Val)
NM_000501.4(ELN):c.278del (p.Pro93fs)	rs1791508570
NM_000501.4(ELN):c.295_296del (p.Ala99fs)	rs1554669297
NM_000501.4(ELN):c.2T>C (p.Met1Thr)	rs863223518
NM_000501.4(ELN):c.348del (p.Gly117fs)	rs2131453910
NM_000501.4(ELN):c.364G>T (p.Gly122Ter)
NM_000501.4(ELN):c.377-2A>G
NM_000501.4(ELN):c.383del (p.Val128fs)	rs1554669800
NM_000501.4(ELN):c.391C>T (p.Gln131Ter)	rs1791626037
NM_000501.4(ELN):c.414dup (p.Gly139fs)	rs1791633917
NM_000501.4(ELN):c.417del (p.Val141fs)	rs878854452
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter)	rs137854454
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter)	rs137854454
NM_000501.4(ELN):c.554_555delinsA (p.Ala185fs)
NM_000501.4(ELN):c.609del (p.Leu204fs)
NM_000501.4(ELN):c.611del (p.Leu204fs)
NM_000501.4(ELN):c.643+1_643+2delinsAG	rs1554672602
NM_000501.4(ELN):c.65_69dup (p.Ser24fs)	rs1787875866
NM_000501.4(ELN):c.660del (p.Tyr221fs)
NM_000501.4(ELN):c.662dup (p.Tyr221Ter)
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter)	rs1400530335
NM_000501.4(ELN):c.69del (p.Ser24fs)
NM_000501.4(ELN):c.775del (p.Ala259fs)
NM_000501.4(ELN):c.786del (p.Ala263fs)
NM_000501.4(ELN):c.800-2A>G	rs727503027
NM_000501.4(ELN):c.800-3C>G	rs397516433
NM_000501.4(ELN):c.82+1G>A	rs2130830261
NM_000501.4(ELN):c.82+1G>C	rs2130830261
NM_000501.4(ELN):c.840_843dup (p.Val282fs)	rs1794096639
NM_000501.4(ELN):c.869del (p.Pro290fs)	rs1794104889
NM_000501.4(ELN):c.885del (p.Ile295fs)	rs1794108907
NM_000501.4(ELN):c.8del (p.Gly3fs)	rs2130826217
NM_000501.4(ELN):c.909_916del (p.Ala304fs)	rs2131856285
NM_000501.4(ELN):c.944A>G (p.Lys315Arg)	rs1554676454
NM_000501.4(ELN):c.948T>A (p.Tyr316Ter)	rs2131858633
NM_000501.4(ELN):c.94del (p.Ala32fs)
NM_000501.4(ELN):c.96del (p.Ile33fs)	rs2131151265
NM_001278939.1(ELN):c.748del	rs1793092853
NM_181486.4(TBX5):c.100dup (p.Ala34fs)
NM_181486.4(TBX5):c.1012del (p.Tyr338fs)	rs2136360335
NM_181486.4(TBX5):c.1037C>A (p.Ser346Ter)	rs2136360259
NM_181486.4(TBX5):c.105del (p.Ser36fs)	rs1057516042
NM_181486.4(TBX5):c.1104C>G (p.Tyr368Ter)	rs1565923835
NM_181486.4(TBX5):c.1115_1116delinsAGGCGCTCCTACA (p.Ser372Ter)	rs1593836748
NM_181486.4(TBX5):c.116del (p.Pro39fs)
NM_181486.4(TBX5):c.142C>T (p.Gln48Ter)	rs863223777
NM_181486.4(TBX5):c.148-2A>C
NM_181486.4(TBX5):c.154G>T (p.Glu52Ter)	rs1208004863
NM_181486.4(TBX5):c.163_172del (p.Lys55fs)	rs1593883930
NM_181486.4(TBX5):c.238_239delinsT (p.Ala79_Gly80insTer)	rs1871830996
NM_181486.4(TBX5):c.239G>A (p.Gly80Glu)	rs1871830806
NM_181486.4(TBX5):c.243-2A>G	rs2136418310
NM_181486.4(TBX5):c.246del (p.Met83fs)	rs1871673161
NM_181486.4(TBX5):c.252T>A (p.Phe84Leu)	rs2136418265
NM_181486.4(TBX5):c.278dup (p.Leu94fs)	rs1555226420
NM_181486.4(TBX5):c.341dup (p.Tyr114Ter)	rs2136418056
NM_181486.4(TBX5):c.362+2T>C	rs1593881162
NM_181486.4(TBX5):c.383_386dup (p.Met131fs)	rs2136416963
NM_181486.4(TBX5):c.390del (p.Met131fs)	rs1565941046
NM_181486.4(TBX5):c.400del (p.Arg134fs)	rs1408227928
NM_181486.4(TBX5):c.432dup (p.Gly145fs)	rs1555226322
NM_181486.4(TBX5):c.443G>A (p.Trp148Ter)	rs1060503154
NM_181486.4(TBX5):c.456del (p.Val153fs)	rs1057520136
NM_181486.4(TBX5):c.484A>G (p.Asn162Asp)	rs1871568678
NM_181486.4(TBX5):c.511-1G>C	rs2136411098
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter)	rs886041247
NM_181486.4(TBX5):c.593del (p.Asn198fs)	rs1565939215
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
NM_181486.4(TBX5):c.594dup (p.Thr199fs)
NM_181486.4(TBX5):c.595dup (p.Thr199fs)	rs1555226005
NM_181486.4(TBX5):c.611dup (p.His204fs)	rs863223786
NM_181486.4(TBX5):c.629_632dup (p.Ile212fs)	rs1555225989
NM_181486.4(TBX5):c.652C>T (p.Gln218Ter)	rs2136410724
NM_181486.4(TBX5):c.663+1G>A	rs1871328488
NM_181486.4(TBX5):c.668C>T (p.Thr223Met)	rs1555225344
NM_181486.4(TBX5):c.691C>T (p.Pro231Ser)	rs2136397905
NM_181486.4(TBX5):c.69del (p.Cys24fs)	rs1872004016
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp)	rs104894382
NM_181486.4(TBX5):c.727del (p.Glu243fs)	rs1870762150
NM_181486.4(TBX5):c.755+1G>A
NM_181486.4(TBX5):c.755+1G>T	rs2136397746
NM_181486.4(TBX5):c.760G>T (p.Glu254Ter)	rs2136373802
NM_181486.4(TBX5):c.765T>A (p.Tyr255Ter)	rs2136373795
NM_181486.4(TBX5):c.813_814del (p.His271fs)	rs1869539814
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter)	rs863223788
NM_181486.4(TBX5):c.853_865del (p.Ser285fs)
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter)	rs1565927747
NM_181486.4(TBX5):c.884del (p.Asn295fs)
NM_181486.4(TBX5):c.920del (p.Pro307fs)
NM_181486.4(TBX5):c.926_927del (p.Asn309fs)	rs1593847163
NM_181486.4(TBX5):c.958del (p.Ile320fs)	rs878853750
NM_181486.4(TBX5):c.982+1G>A	rs2136373207
NM_181486.4(TBX5):c.982+2T>G	rs2136373205

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