ClinVar Miner

List of variants reported as likely pathogenic for Thoracic aortic aneurysm and aortic dissection

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Total variants: 79
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HGVS dbSNP
NC_000009.11:g.(?_101900121)_(101900391_?)del
NC_000015.9:g.(?_67457213)_(67462962_?)dup
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000090.3(COL3A1):c.1178G>A (p.Gly393Asp) rs1553507867
NM_000090.3(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017
NM_000090.3(COL3A1):c.3093+1G>T rs869312034
NM_000090.3(COL3A1):c.798_799delAG
NM_000093.4(COL5A1):c.2504G>C (p.Gly835Ala) rs1554799402
NM_000138.4(FBN1):c.1422T>G (p.Cys474Trp) rs1555400378
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.2168-1G>T rs1555399387
NM_000138.4(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.4(FBN1):c.2539+1G>T rs794728192
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.3290G>T (p.Cys1097Phe) rs1555398627
NM_000138.4(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.4(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408
NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.4(FBN1):c.4406G>C (p.Arg1469Pro) rs397515808
NM_000138.4(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.4(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.4(FBN1):c.4700del (p.Gly1567fs) rs1566904526
NM_000138.4(FBN1):c.4898G>A (p.Cys1633Tyr) rs1555396993
NM_000138.4(FBN1):c.4927dup (p.Thr1643fs) rs1566903914
NM_000138.4(FBN1):c.5495G>A (p.Arg1832His) rs764203302
NM_000138.4(FBN1):c.5504_5505del (p.Asp1834_Cys1835insTer) rs1566900492
NM_000138.4(FBN1):c.5917+6T>C rs1555395742
NM_000138.4(FBN1):c.5964del (p.Cys1989fs) rs1566898120
NM_000138.4(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000138.4(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.4(FBN1):c.626G>A (p.Cys209Tyr) rs1555401687
NM_000138.4(FBN1):c.7299C>G (p.Tyr2433Ter) rs1566892872
NM_000138.4(FBN1):c.7654T>C (p.Cys2552Arg) rs1566891668
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.7788C>A (p.Tyr2596Ter) rs1555394142
NM_000138.4(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.8504dup (p.Leu2836fs) rs1555393516
NM_000138.4(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
NM_000138.4(FBN1):c.950del (p.Pro317fs) rs1566919637
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp) rs770974455
NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser) rs1553517181
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_002317.7(LOX):c.893T>G (p.Met298Arg) rs876657852
NM_002474.3(MYH11):c.1A>G (p.Met1Val) rs1555459260
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002474.3(MYH11):c.3757_3759AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324
NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003242.6(TGFBR2):c.1259G>T (p.Gly420Val) rs1553630426
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs) rs1559472349
NM_003242.6(TGFBR2):c.1529del (p.Ile510fs) rs878854611
NM_003242.6(TGFBR2):c.1531C>T (p.Gln511Ter) rs1060501984
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_004612.4(TGFBR1):c.1303G>C (p.Asp435His) rs1554702463
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) rs886039176
NM_004612.4(TGFBR1):c.860C>A (p.Ser287Tyr)
NM_004612.4(TGFBR1):c.974-2A>G rs1554701881
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.607+1G>T rs1060500771
NM_005902.4(SMAD3):c.738_741dup (p.Phe248fs) rs1566999423
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005902.4(SMAD3):c.848T>A (p.Val283Glu) rs1566999601
NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly) rs1566999610
NM_005902.4(SMAD3):c.871+2T>C rs863223761
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173
NM_053025.4(MYLK):c.2390+2T>C rs1553808296
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781
Single allele

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