NM_053025.4(MYLK):c.2398G>T (p.Val800Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000687502]|Aortic aneurysm, familial thoracic 7 [RCV002481738]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431491]|not provided [RCV000521193] |
Chr3:123701502 [GRCh38] Chr3:123420349 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1179TGT[1] (p.Val395del) |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV000552195]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341409]|not specified [RCV001290645] |
Chr3:123733812..123733814 [GRCh38] Chr3:123452659..123452661 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.5377T>G (p.Ser1793Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000549815] |
Chr3:123618762 [GRCh38] Chr3:123337609 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.717G>A (p.Ser239=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000527705]|Familial thoracic aortic aneurysm and aortic dissection [RCV003159892]|not specified [RCV001264560] |
Chr3:123737415 [GRCh38] Chr3:123456262 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2429T>A (p.Met810Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001853660]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456012]|not provided [RCV000519486] |
Chr3:123701471 [GRCh38] Chr3:123420318 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000544940]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798893]|not provided [RCV001697000] |
Chr3:123700284 [GRCh38] Chr3:123419131 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3351C>A (p.Leu1117=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000545835] |
Chr3:123700117 [GRCh38] Chr3:123418964 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3784A>G (p.Thr1262Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000547683]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367908] |
Chr3:123666266 [GRCh38] Chr3:123385113 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2921C>G (p.Pro974Arg) |
single nucleotide variant |
not provided [RCV000521289] |
Chr3:123700547 [GRCh38] Chr3:123419394 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000528784]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170125]|not provided [RCV001811061]|not specified [RCV000609371] |
Chr3:123707756 [GRCh38] Chr3:123426603 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.2604C>T (p.Asp868=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000526073]|Familial thoracic aortic aneurysm and aortic dissection [RCV003302867] |
Chr3:123700864 [GRCh38] Chr3:123419711 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.2740G>A (p.Asp914Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000544003]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769332] |
Chr3:123700728 [GRCh38] Chr3:123419575 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4110C>G (p.Ile1370Met) |
single nucleotide variant |
not provided [RCV000523581] |
Chr3:123657304 [GRCh38] Chr3:123376151 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4459C>T (p.Arg1487Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000515772] |
Chr3:123647384 [GRCh38] Chr3:123366231 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.5742G>T (p.Glu1914Asp) |
single nucleotide variant |
not provided [RCV000522392] |
Chr3:123614108 [GRCh38] Chr3:123332955 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2463G>T (p.Arg821=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000525134] |
Chr3:123701005 [GRCh38] Chr3:123419852 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000529369]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315006]|not provided [RCV001528641] |
Chr3:123722146 [GRCh38] Chr3:123440993 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000529711]|Connective tissue disorder [RCV000680575]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769341]|not provided [RCV001697307]|not specified [RCV001779002] |
Chr3:123732938 [GRCh38] Chr3:123451785 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.5019T>C (p.Val1673=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000543449]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350332] |
Chr3:123629569 [GRCh38] Chr3:123348416 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1807A>G (p.Lys603Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000546392]|not provided [RCV002293454] |
Chr3:123709891 [GRCh38] Chr3:123428738 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.374-3C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002529050]|not provided [RCV000579168] |
Chr3:123740004 [GRCh38] Chr3:123458851 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000023044]|Familial thoracic aortic aneurysm and aortic dissection [RCV000603875] |
Chr3:123620300 [GRCh38] Chr3:123339147 [GRCh37] Chr3:3q21.1 |
pathogenic|likely pathogenic |
NM_053025.4(MYLK):c.4438C>T (p.Arg1480Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000023045]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798012] |
Chr3:123647405 [GRCh38] Chr3:123366252 [GRCh37] Chr3:3q21.1 |
pathogenic|likely pathogenic |
GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1 |
copy number loss |
See cases [RCV000051569] |
Chr3:121644209..125676353 [GRCh38] Chr3:121363056..125395197 [GRCh37] Chr3:122845746..126877887 [NCBI36] Chr3:3q13.33-21.2 |
pathogenic |
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 |
copy number loss |
See cases [RCV000051546] |
Chr3:119117166..125920734 [GRCh38] Chr3:118836013..125639577 [GRCh37] Chr3:120318703..127122267 [NCBI36] Chr3:3q13.32-21.2 |
pathogenic |
NM_053025.3(MYLK):c.907G>T (p.Gly303Cys) |
single nucleotide variant |
Malignant melanoma [RCV000060685] |
Chr3:123734089 [GRCh38] Chr3:123452936 [GRCh37] Chr3:124935626 [NCBI36] Chr3:3q21.1 |
not provided |
NM_053025.4(MYLK):c.750C>T (p.Ile250=) |
single nucleotide variant |
not specified [RCV000420913] |
Chr3:123737382 [GRCh38] Chr3:123456229 [GRCh37] Chr3:124938919 [NCBI36] Chr3:3q21.1 |
likely benign|not provided |
NM_053025.4(MYLK):c.672C>T (p.Asn224=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000908846]|Connective tissue disorder [RCV000659935] |
Chr3:123737460 [GRCh38] Chr3:123456307 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.800C>A (p.Thr267Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000795326]|Connective tissue disorder [RCV000659938]|Familial thoracic aortic aneurysm and aortic dissection [RCV002422444] |
Chr3:123734196 [GRCh38] Chr3:123453043 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.4620-5C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001087534]|Connective tissue disorder [RCV000659950]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798954]|not provided [RCV000842542] |
Chr3:123640509 [GRCh38] Chr3:123359356 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.774-15C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002066966]|Connective tissue disorder [RCV000659937]|not specified [RCV003479189] |
Chr3:123734237 [GRCh38] Chr3:123453084 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.1189A>G (p.Lys397Glu) |
single nucleotide variant |
Connective tissue disorder [RCV000659939] |
Chr3:123733807 [GRCh38] Chr3:123452654 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3626C>G (p.Ser1209Cys) |
single nucleotide variant |
Connective tissue disorder [RCV000659944] |
Chr3:123682250 [GRCh38] Chr3:123401097 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3832-4C>T |
single nucleotide variant |
Connective tissue disorder [RCV000659948] |
Chr3:123664262 [GRCh38] Chr3:123383109 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.374-7C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002529538]|not specified [RCV000602802] |
Chr3:123740008 [GRCh38] Chr3:123458855 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.373+1G>A |
single nucleotide variant |
not provided [RCV000999542] |
Chr3:123752330 [GRCh38] Chr3:123471177 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.984G>A (p.Ser328=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000999809]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313028]|not provided [RCV001812149]|not specified [RCV000173910] |
Chr3:123734012 [GRCh38] Chr3:123452859 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001082109]|Connective tissue disorder [RCV000680576]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769342]|not provided [RCV000757536]|not specified [RCV000173911] |
Chr3:123733989 [GRCh38] Chr3:123452836 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000999936]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314607]|not provided [RCV001812153]|not specified [RCV000175376] |
Chr3:123700441 [GRCh38] Chr3:123419288 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000602295]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314608]|Megacystis, microcolon, hypoperistalsis syndrome [RCV001778771]|not provided [RCV000588956]|not specified [RCV000175377] |
Chr3:123700066 [GRCh38] Chr3:123418913 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000576566]|Aortic aneurysm, familial thoracic 7 [RCV003224340]|Familial thoracic aortic aneurysm and aortic dissection [RCV002330993]|not provided [RCV001764694] |
Chr3:123657284 [GRCh38] Chr3:123376131 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.343C>T (p.Arg115Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001302451]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451677] |
Chr3:123752361 [GRCh38] Chr3:123471208 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001001497]|Aortic aneurysm, familial thoracic 7 [RCV002485151]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770612]|not provided [RCV001532488]|not specified [RCV000176892] |
Chr3:123640360 [GRCh38] Chr3:123359207 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.754+16C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002538421]|not specified [RCV001293481] |
Chr3:123737362 [GRCh38] Chr3:123456209 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000608983]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314667]|Megacystis, microcolon, hypoperistalsis syndrome [RCV001778773]|not provided [RCV000586763]|not specified [RCV000179991] |
Chr3:123739046 [GRCh38] Chr3:123457893 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003160157]|not provided [RCV000999541] |
Chr3:123738950 [GRCh38] Chr3:123457797 [GRCh37] Chr3:3q21.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1148C>T (p.Pro383Leu) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149329] |
Chr3:123733848 [GRCh38] Chr3:123452695 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2596G>A (p.Gly866Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002505118]|Familial thoracic aortic aneurysm and aortic dissection [RCV000143929]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311020]|not provided [RCV000523278] |
Chr3:123700872 [GRCh38] Chr3:123419719 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4079G>A (p.Gly1360Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002483276]|Familial thoracic aortic aneurysm and aortic dissection [RCV000143930] |
Chr3:123657335 [GRCh38] Chr3:123376182 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.627_628del (p.Val209_Ser210insTer) |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV001348952] |
Chr3:123737504..123737505 [GRCh38] Chr3:123456351..123456352 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001078482]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415748]|not provided [RCV000724560] |
Chr3:123708718 [GRCh38] Chr3:123427565 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 |
copy number gain |
See cases [RCV000134948] |
Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
GRCh38/hg38 3q21.1(chr3:123399650-124045857)x3 |
copy number gain |
See cases [RCV000139358] |
Chr3:123399650..124045857 [GRCh38] Chr3:123118497..123764704 [GRCh37] Chr3:124601187..125247394 [NCBI36] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV001514194]|Familial thoracic aortic aneurysm and aortic dissection [RCV000288268]|not specified [RCV000175378] |
Chr3:123700270..123700272 [GRCh38] Chr3:123419117..123419119 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 |
copy number loss |
See cases [RCV000139033] |
Chr3:112620977..128734134 [GRCh38] Chr3:112339824..128452977 [GRCh37] Chr3:113822514..129935667 [NCBI36] Chr3:3q13.2-21.3 |
pathogenic |
GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1 |
copy number loss |
See cases [RCV000140814] |
Chr3:121925147..126782249 [GRCh38] Chr3:121643994..126501092 [GRCh37] Chr3:123126684..127983782 [NCBI36] Chr3:3q13.33-21.3 |
pathogenic |
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 |
copy number loss |
See cases [RCV000142009] |
Chr3:114122562..124532374 [GRCh38] Chr3:113841409..124251221 [GRCh37] Chr3:115324099..125733911 [NCBI36] Chr3:3q13.31-21.2 |
pathogenic |
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 |
copy number gain |
See cases [RCV000142340] |
Chr3:93800620..145695381 [GRCh38] Chr3:93519464..145413168 [GRCh37] Chr3:95002154..146895858 [NCBI36] Chr3:3q11.1-24 |
pathogenic |
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 |
copy number loss |
See cases [RCV000143695] |
Chr3:118673898..126540730 [GRCh38] Chr3:118392745..126259573 [GRCh37] Chr3:119875435..127742263 [NCBI36] Chr3:3q13.32-21.3 |
pathogenic |
GRCh38/hg38 3q21.1(chr3:123844472-123900064)x1 |
copy number loss |
See cases [RCV000143629] |
Chr3:123844472..123900064 [GRCh38] Chr3:123563319..123618911 [GRCh37] Chr3:125046009..125101601 [NCBI36] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.3982G>A (p.Val1328Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001433134]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313007]|Loeys-Dietz syndrome [RCV000157374] |
Chr3:123664108 [GRCh38] Chr3:123382955 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.4805A>G (p.Lys1602Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001837465] |
Chr3:123640319 [GRCh38] Chr3:123359166 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4844C>T (p.Ala1615Val) |
single nucleotide variant |
Aortic aneurysm, familial abdominal, 1 [RCV000157376]|Aortic aneurysm, familial thoracic 7 [RCV002515047]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336347] |
Chr3:123638188 [GRCh38] Chr3:123357035 [GRCh37] Chr3:3q21.1 |
benign|likely benign|uncertain significance |
NM_053025.4(MYLK):c.1640G>A (p.Trp547Ter) |
single nucleotide variant |
not provided [RCV000182570] |
Chr3:123725955 [GRCh38] Chr3:123444802 [GRCh37] Chr3:3q21.1 |
pathogenic|uncertain significance |
NM_053025.4(MYLK):c.571C>G (p.Gln191Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000694087]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345625]|not provided [RCV000179990] |
Chr3:123738914 [GRCh38] Chr3:123457761 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.643A>G (p.Met215Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000551705]|Familial thoracic aortic aneurysm and aortic dissection [RCV002365408]|not provided [RCV001764311] |
Chr3:123737489 [GRCh38] Chr3:123456336 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000861894]|Familial thoracic aortic aneurysm and aortic dissection [RCV000264494]|not provided [RCV001311609]|not specified [RCV000605840] |
Chr3:123700879 [GRCh38] Chr3:123419726 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.*1254GT[4] |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV000260203] |
Chr3:123612840..123612843 [GRCh38] Chr3:123331687..123331690 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000198643]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315630] |
Chr3:123707995 [GRCh38] Chr3:123426842 [GRCh37] Chr3:3q21.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.957G>A (p.Glu319=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001416511]|Familial thoracic aortic aneurysm and aortic dissection [RCV002381713]|not specified [RCV000603651] |
Chr3:123734039 [GRCh38] Chr3:123452886 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001089132]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798689]|not provided [RCV000762382]|not specified [RCV000605913] |
Chr3:123700030 [GRCh38] Chr3:123418877 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000204193]|Familial thoracic aortic aneurysm and aortic dissection [RCV002433910]|not provided [RCV001579662]|not specified [RCV000252276] |
Chr3:123700549 [GRCh38] Chr3:123419396 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.5447G>A (p.Arg1816His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002503823]|Aortic aneurysm, familial thoracic 7 [RCV002517400]|Familial thoracic aortic aneurysm and aortic dissection [RCV000208152]|not specified [RCV002265686] |
Chr3:123618692 [GRCh38] Chr3:123337539 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4790C>T (p.Thr1597Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002515546]|Familial thoracic aortic aneurysm and aortic dissection [RCV000208474] |
Chr3:123640334 [GRCh38] Chr3:123359181 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4372C>T (p.Gln1458Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000515767] |
Chr3:123649014 [GRCh38] Chr3:123367861 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.5392G>A (p.Glu1798Lys) |
single nucleotide variant |
not provided [RCV000756400] |
Chr3:123618747 [GRCh38] Chr3:123337594 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 6 [RCV000211453]|Aortic aneurysm, familial thoracic 7 [RCV000463249]|Familial thoracic aortic aneurysm and aortic dissection [RCV000243617]|not provided [RCV001812217]|not specified [RCV000222439] |
Chr3:123700935 [GRCh38] Chr3:123419782 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000755314]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315654]|not provided [RCV001812231]|not specified [RCV000215303] |
Chr3:123734214 [GRCh38] Chr3:123453061 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1005C>T (p.Thr335=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000601909]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315642]|Megacystis, microcolon, hypoperistalsis syndrome [RCV001778798]|not specified [RCV000215397] |
Chr3:123733991 [GRCh38] Chr3:123452838 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.3652+11G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000263705]|not specified [RCV000219718] |
Chr3:123682213 [GRCh38] Chr3:123401060 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000614418]|Familial thoracic aortic aneurysm and aortic dissection [RCV000358452]|Megacystis, microcolon, hypoperistalsis syndrome [RCV001778799]|not provided [RCV000589856]|not specified [RCV000222054] |
Chr3:123732926 [GRCh38] Chr3:123451773 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.62C>A (p.Pro21His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000755313]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315653]|not provided [RCV001812230]|not specified [RCV000222218] |
Chr3:123793780 [GRCh38] Chr3:123512627 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000544399]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341410]|not provided [RCV001755872] |
Chr3:123626924 [GRCh38] Chr3:123345771 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1513G>A (p.Glu505Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000544621] |
Chr3:123732899 [GRCh38] Chr3:123451746 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000210887]|Aortic aneurysm, familial thoracic 7 [RCV002494549]|not provided [RCV001788070]|not specified [RCV003323456] |
Chr3:123649191 [GRCh38] Chr3:123368038 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.3448+15G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002054377]|Familial thoracic aortic aneurysm and aortic dissection [RCV000284724]|not provided [RCV001812226]|not specified [RCV000219991] |
Chr3:123700005 [GRCh38] Chr3:123418852 [GRCh37] Chr3:3q21.1 |
benign|uncertain significance |
NM_053025.4(MYLK):c.4194C>T (p.His1398=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000462804]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315648]|not provided [RCV001812228]|not specified [RCV000217763] |
Chr3:123657220 [GRCh38] Chr3:123376067 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1219G>A (p.Gly407Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000526082] |
Chr3:123733777 [GRCh38] Chr3:123452624 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000321956]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315644]|not specified [RCV000215520] |
Chr3:123700886 [GRCh38] Chr3:123419733 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000614806]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315646]|Megacystis, microcolon, hypoperistalsis syndrome [RCV001778801]|not provided [RCV000589977]|not specified [RCV000218051] |
Chr3:123692742 [GRCh38] Chr3:123411589 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.3832-6C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001081224]|Connective tissue disorder [RCV000659947]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798701]|not provided [RCV000234551]|not specified [RCV000220502] |
Chr3:123664264 [GRCh38] Chr3:123383111 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000380487]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315650]|not specified [RCV000218155] |
Chr3:123649166 [GRCh38] Chr3:123368013 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.4891G>A (p.Glu1631Lys) |
single nucleotide variant |
not provided [RCV001507633] |
Chr3:123638141 [GRCh38] Chr3:123356988 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.411C>G (p.Ser137=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000475492]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315647]|not specified [RCV000214089] |
Chr3:123739964 [GRCh38] Chr3:123458811 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.4620-6C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000473491]|Familial thoracic aortic aneurysm and aortic dissection [RCV000262439]|not provided [RCV001579650]|not specified [RCV000214166] |
Chr3:123640510 [GRCh38] Chr3:123359357 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000475139]|Aortic aneurysm, familial thoracic 7 [RCV002485375]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170122]|not provided [RCV001812224]|not specified [RCV000215944] |
Chr3:123700393 [GRCh38] Chr3:123419240 [GRCh37] Chr3:3q21.1 |
benign |
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000463571]|Familial thoracic aortic aneurysm and aortic dissection [RCV000376784]|not provided [RCV001812227]|not specified [RCV000214367] |
Chr3:123692775 [GRCh38] Chr3:123411622 [GRCh37] Chr3:3q21.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.4289-4C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000234085]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315649]|not provided [RCV001579485]|not specified [RCV000214485] |
Chr3:123649198 [GRCh38] Chr3:123368045 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001000239]|Aortic aneurysm, familial thoracic 7 [RCV002500689]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315652]|not provided [RCV001812229]|not specified [RCV000218585] |
Chr3:123629509 [GRCh38] Chr3:123348356 [GRCh37] Chr3:3q21.1 |
benign |
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001082057]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769336]|not provided [RCV001697219]|not specified [RCV000214592] |
Chr3:123708847 [GRCh38] Chr3:123427694 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1804+8C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000607430]|Megacystis, microcolon, hypoperistalsis syndrome [RCV001778800]|not provided [RCV000586651]|not specified [RCV000218807] |
Chr3:123722120 [GRCh38] Chr3:123440967 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.4289-10dup |
duplication |
Aortic aneurysm, familial thoracic 7 [RCV000474209]|Cardiovascular phenotype [RCV000620342]|Familial thoracic aortic aneurysm and aortic dissection [RCV000340938]|not provided [RCV001701799]|not specified [RCV000221432] |
Chr3:123649196..123649197 [GRCh38] Chr3:123368043..123368044 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000330337]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315651]|not specified [RCV000214883] |
Chr3:123638190 [GRCh38] Chr3:123357037 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000459681]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310800]|not provided [RCV001812225]|not specified [RCV000223242] |
Chr3:123700215 [GRCh38] Chr3:123419062 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000361525]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315645]|not specified [RCV000219186] |
Chr3:123700726 [GRCh38] Chr3:123419573 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1651+6T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001000112]|not provided [RCV001812223]|not specified [RCV000215124] |
Chr3:123725938 [GRCh38] Chr3:123444785 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000232645]|Aortic aneurysm, familial thoracic 7 [RCV003224226]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315643]|not provided [RCV001812222]|not specified [RCV000217065] |
Chr3:123733085 [GRCh38] Chr3:123451932 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.611G>A (p.Ser204Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000229422]|not provided [RCV003327388] |
Chr3:123737521 [GRCh38] Chr3:123456368 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1613G>A (p.Arg538Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000229195]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380527]|not provided [RCV000489548] |
Chr3:123725982 [GRCh38] Chr3:123444829 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000231358]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313963]|MYLK-related condition [RCV003401186]|not provided [RCV001705291] |
Chr3:123664247 [GRCh38] Chr3:123383094 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1271A>T (p.Glu424Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000229799]|Familial thoracic aortic aneurysm and aortic dissection [RCV002374380] |
Chr3:123733725 [GRCh38] Chr3:123452572 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4838-7G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000232034]|not provided [RCV001558190] |
Chr3:123638201 [GRCh38] Chr3:123357048 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3659C>T (p.Ala1220Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000230546]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313962]|not provided [RCV001537250] |
Chr3:123667181 [GRCh38] Chr3:123386028 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2776C>T (p.Arg926Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000232894]|Familial thoracic aortic aneurysm and aortic dissection [RCV000304408]|not provided [RCV001775703] |
Chr3:123700692 [GRCh38] Chr3:123419539 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2140+6G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000231016]|Inborn genetic diseases [RCV002518361] |
Chr3:123708692 [GRCh38] Chr3:123427539 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.524G>T (p.Gly175Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000231427]|Aortic aneurysm, familial thoracic 7 [RCV002500817]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338761]|not provided [RCV001093173] |
Chr3:123738961 [GRCh38] Chr3:123457808 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1400C>G (p.Ala467Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000226349] |
Chr3:123733012 [GRCh38] Chr3:123451859 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000999796]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769335]|not provided [RCV001573100]|not specified [RCV000251900] |
Chr3:123708737 [GRCh38] Chr3:123427584 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.4929C>T (p.Asp1643=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000233775]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338760]|not provided [RCV001722266]|not specified [RCV003387817] |
Chr3:123638103 [GRCh38] Chr3:123356950 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001084516]|Aortic aneurysm, familial thoracic 7 [RCV002494665]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313961]|not provided [RCV001569565]|not specified [RCV002229665] |
Chr3:123708815 [GRCh38] Chr3:123427662 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3127C>G (p.Pro1043Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000227860]|Aortic aneurysm, familial thoracic 7 [RCV002494666]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321888]|not provided [RCV003129816] |
Chr3:123700341 [GRCh38] Chr3:123419188 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000228521]|Aortic aneurysm, familial thoracic 7 [RCV002500816]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170678]|not provided [RCV001812655]|not specified [RCV000242114] |
Chr3:123739992 [GRCh38] Chr3:123458839 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000226549]|Connective tissue disorder [RCV000659933]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798743]|not provided [RCV000498107]|not specified [RCV003317170] |
Chr3:123737539 [GRCh38] Chr3:123456386 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1113G>A (p.Arg371=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000226797]|Familial thoracic aortic aneurysm and aortic dissection [RCV002436042]|not provided [RCV001577854] |
Chr3:123733883 [GRCh38] Chr3:123452730 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3615G>T (p.Arg1205Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002536567]|Familial thoracic aortic aneurysm and aortic dissection [RCV002458359]|not provided [RCV000757529] |
Chr3:123682261 [GRCh38] Chr3:123401108 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5489G>A (p.Cys1830Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001211864]|not provided [RCV000757534] |
Chr3:123618650 [GRCh38] Chr3:123337497 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3981C>T (p.Val1327=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001088470]|Familial thoracic aortic aneurysm and aortic dissection [RCV002370010]|not provided [RCV000757538] |
Chr3:123664109 [GRCh38] Chr3:123382956 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000557660]|Familial thoracic aortic aneurysm and aortic dissection [RCV000238608]|not provided [RCV000657149]|not specified [RCV001192846] |
Chr3:123618662 [GRCh38] Chr3:123337509 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000466008]|Aortic aneurysm, familial thoracic 7 [RCV002494685]|Familial thoracic aortic aneurysm and aortic dissection [RCV000238683]|not provided [RCV001770215]|not specified [RCV000508092] |
Chr3:123666301 [GRCh38] Chr3:123385148 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3910C>A (p.His1304Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000238856] |
Chr3:123664180 [GRCh38] Chr3:123383027 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2626C>A (p.Arg876Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000239161] |
Chr3:123700842 [GRCh38] Chr3:123419689 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5412G>T (p.Lys1804Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001034981]|Familial thoracic aortic aneurysm and aortic dissection [RCV002347942]|not provided [RCV002469087]|not specified [RCV000239136] |
Chr3:123618727 [GRCh38] Chr3:123337574 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5586C>T (p.Asp1862=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000876731]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313423]|not provided [RCV001764733] |
Chr3:123614264 [GRCh38] Chr3:123333111 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5426C>G (p.Pro1809Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315067] |
Chr3:123618713 [GRCh38] Chr3:123337560 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3000C>T (p.Ala1000=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648773]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313413]|not provided [RCV000827611] |
Chr3:123700468 [GRCh38] Chr3:123419315 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4016G>T (p.Cys1339Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000548625]|not provided [RCV003227788] |
Chr3:123657398 [GRCh38] Chr3:123376245 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4744G>A (p.Val1582Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001144191]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313453] |
Chr3:123640380 [GRCh38] Chr3:123359227 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1314C>T (p.Ser438=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001001942]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311154]|not provided [RCV001579736] |
Chr3:123733098 [GRCh38] Chr3:123451945 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.24C>G (p.Ala8=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000474087]|Familial thoracic aortic aneurysm and aortic dissection [RCV000246015]|not provided [RCV001552310]|not specified [RCV001823721] |
Chr3:123793818 [GRCh38] Chr3:123512665 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.455G>A (p.Arg152His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001089045]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311130]|not specified [RCV001174833] |
Chr3:123739030 [GRCh38] Chr3:123457877 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.333C>T (p.Gly111=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002310956] |
Chr3:123752371 [GRCh38] Chr3:123471218 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2799G>A (p.Val933=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000459862]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311128]|not provided [RCV001537206] |
Chr3:123700669 [GRCh38] Chr3:123419516 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3096_3131del (p.1032_1043AETLKPMGNAKP[1]) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV000551877]|Aortic aneurysm, familial thoracic 7 [RCV002491074]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315008]|not provided [RCV002254934] |
Chr3:123700337..123700372 [GRCh38] Chr3:123419184..123419219 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000283717]|not provided [RCV000842222] |
Chr3:123649181 [GRCh38] Chr3:123368028 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.423-8C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648755]|Familial thoracic aortic aneurysm and aortic dissection [RCV000285868]|not provided [RCV001584049] |
Chr3:123739070 [GRCh38] Chr3:123457917 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.4348C>T (p.Arg1450Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000868827]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314067]|not provided [RCV001555323]|not specified [RCV003323521] |
Chr3:123649038 [GRCh38] Chr3:123367885 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001000299]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769344]|not provided [RCV001812740]|not specified [RCV000253654] |
Chr3:123739006 [GRCh38] Chr3:123457853 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.3969C>T (p.Val1323=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000866705]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311076] |
Chr3:123664121 [GRCh38] Chr3:123382968 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001081723]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770620]|not provided [RCV000828385]|not specified [RCV000253600] |
Chr3:123666344 [GRCh38] Chr3:123385191 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1110G>A (p.Glu370=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001426956]|Aortic aneurysm, familial thoracic 7 [RCV002487146]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310925]|not provided [RCV001697729] |
Chr3:123733886 [GRCh38] Chr3:123452733 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000456207]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311139]|not provided [RCV001572878]|not specified [RCV000613694] |
Chr3:123739993 [GRCh38] Chr3:123458840 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.5535T>C (p.Asp1845=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001479464]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350333]|not specified [RCV001260408] |
Chr3:123614315 [GRCh38] Chr3:123333162 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.207C>T (p.Asn69=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000861782]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313988]|not provided [RCV001579755]|not specified [RCV000246540] |
Chr3:123752497 [GRCh38] Chr3:123471344 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3183C>T (p.Ser1061=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000866334]|Aortic aneurysm, familial thoracic 7 [RCV002479983]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798753]|not provided [RCV001697734] |
Chr3:123700285 [GRCh38] Chr3:123419132 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4119A>G (p.Ser1373=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000524583]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310914]|not specified [RCV000614041] |
Chr3:123657295 [GRCh38] Chr3:123376142 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.999G>A (p.Pro333=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001085421]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798748]|not provided [RCV000513644]|not specified [RCV000251918] |
Chr3:123733997 [GRCh38] Chr3:123452844 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000274447]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150189] |
Chr3:123664190 [GRCh38] Chr3:123383037 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3048T>C (p.Asn1016=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002059043]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311144]|not provided [RCV001812760] |
Chr3:123700420 [GRCh38] Chr3:123419267 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.652C>T (p.Leu218=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001000298]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769343]|not provided [RCV001812741]|not specified [RCV000246667] |
Chr3:123737480 [GRCh38] Chr3:123456327 [GRCh37] Chr3:3q21.1 |
benign |
NM_053025.4(MYLK):c.3611G>A (p.Arg1204Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000793618]|Aortic aneurysm, familial thoracic 7 [RCV002487145]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310920] |
Chr3:123682265 [GRCh38] Chr3:123401112 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.754+17G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002058387]|not specified [RCV000251596] |
Chr3:123737361 [GRCh38] Chr3:123456208 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.3750C>T (p.Arg1250=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000469062]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310957]|not provided [RCV001589302]|not specified [RCV001526887] |
Chr3:123666300 [GRCh38] Chr3:123385147 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.2628C>T (p.Arg876=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000538502]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313989]|not provided [RCV001722351]|not specified [RCV000244376] |
Chr3:123700840 [GRCh38] Chr3:123419687 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.619G>A (p.Val207Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001045808]|Connective tissue disorder [RCV000659934]|Familial thoracic aortic aneurysm and aortic dissection [RCV000249352]|not provided [RCV000520122] |
Chr3:123737513 [GRCh38] Chr3:123456360 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.435A>C (p.Ser145=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002059031]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310924]|not provided [RCV000840189]|not specified [RCV002307473] |
Chr3:123739050 [GRCh38] Chr3:123457897 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000477018]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311120]|not provided [RCV000999540] |
Chr3:123733863 [GRCh38] Chr3:123452710 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.4026C>T (p.Asp1342=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311124] |
Chr3:123657388 [GRCh38] Chr3:123376235 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1802A>C (p.His601Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648711]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310949] |
Chr3:123722130 [GRCh38] Chr3:123440977 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.3755G>A (p.Gly1252Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002310989] |
Chr3:123666295 [GRCh38] Chr3:123385142 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2127G>A (p.Val709=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648769]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418089]|not specified [RCV000242261] |
Chr3:123708711 [GRCh38] Chr3:123427558 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1219G>T (p.Gly407Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000805986]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311160]|not provided [RCV001565221] |
Chr3:123733777 [GRCh38] Chr3:123452624 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000471565]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313990]|not provided [RCV001722352]|not specified [RCV000247366] |
Chr3:123657219 [GRCh38] Chr3:123376066 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.4520G>A (p.Arg1507Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311117] |
Chr3:123647323 [GRCh38] Chr3:123366170 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4082G>A (p.Ser1361Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000765703]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311157] |
Chr3:123657332 [GRCh38] Chr3:123376179 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000467595]|Aortic aneurysm, familial thoracic 7 [RCV002508930]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170124]|Marfan syndrome [RCV000581201]|not provided [RCV000658971]|not specified [RCV003479086] |
Chr3:123700994 [GRCh38] Chr3:123419841 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_053025.4(MYLK):c.399G>T (p.Gln133His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001000031]|Congenital aneurysm of ascending aorta [RCV001795472]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170677]|not provided [RCV001579449]|not specified [RCV000427577] |
Chr3:123739976 [GRCh38] Chr3:123458823 [GRCh37] Chr3:3q21.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1134T>C (p.Arg378=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311135] |
Chr3:123733862 [GRCh38] Chr3:123452709 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.*419C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000271588] |
Chr3:123613686 [GRCh38] Chr3:123332533 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.3681C>T (p.Ala1227=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001080530]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311214]|not provided [RCV000658970] |
Chr3:123667159 [GRCh38] Chr3:123386006 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001087491]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770619]|not provided [RCV001812739]|not specified [RCV000247458] |
Chr3:123657427 [GRCh38] Chr3:123376274 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000554596]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170679]|not provided [RCV000727292]|not specified [RCV002265713] |
Chr3:123752447 [GRCh38] Chr3:123471294 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1668C>T (p.Tyr556=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001432234]|Familial thoracic aortic aneurysm and aortic dissection [RCV002401964]|not provided [RCV001775753]|not specified [RCV000250012] |
Chr3:123722264 [GRCh38] Chr3:123441111 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1075C>A (p.Pro359Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001296974]|Aortic aneurysm, familial thoracic 7 [RCV002487156]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311118]|not provided [RCV003441829] |
Chr3:123733921 [GRCh38] Chr3:123452768 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4800G>A (p.Arg1600=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000475445]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338809]|not provided [RCV001697628]|not specified [RCV000245273] |
Chr3:123640324 [GRCh38] Chr3:123359171 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.4645C>T (p.Arg1549Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001854997]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311211] |
Chr3:123640479 [GRCh38] Chr3:123359326 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001089352]|Connective tissue disorder [RCV000680569]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310930]|not provided [RCV000530049]|not specified [RCV003317175] |
Chr3:123649190 [GRCh38] Chr3:123368037 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000469322]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170114]|not provided [RCV000519483]|not specified [RCV001358749] |
Chr3:123649050 [GRCh38] Chr3:123367897 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.639C>T (p.Asn213=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001404092]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311072]|not specified [RCV000242894] |
Chr3:123737493 [GRCh38] Chr3:123456340 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4915G>C (p.Gly1639Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000685958]|Aortic aneurysm, familial thoracic 7 [RCV002479988]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311159]|not provided [RCV003153546] |
Chr3:123638117 [GRCh38] Chr3:123356964 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4838-3C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648751]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338810]|not provided [RCV001557934]|not specified [RCV000250226] |
Chr3:123638197 [GRCh38] Chr3:123357044 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.422+14G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001000778]|Aortic aneurysm, familial thoracic 7 [RCV002479971]|not specified [RCV000252705] |
Chr3:123739939 [GRCh38] Chr3:123458786 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.188A>G (p.Gln63Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000276037]|not provided [RCV001590997] |
Chr3:123752516 [GRCh38] Chr3:123471363 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.588+10C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001459884]|not provided [RCV000726371]|not specified [RCV000243022] |
Chr3:123738887 [GRCh38] Chr3:123457734 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.373+18C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002058383]|Aortic aneurysm, familial thoracic 7 [RCV002500931]|not provided [RCV003114430]|not specified [RCV000245626] |
Chr3:123752313 [GRCh38] Chr3:123471160 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.588+13_588+16del |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV002058386]|Familial thoracic aortic aneurysm and aortic dissection [RCV000284812]|not provided [RCV001579425]|not specified [RCV000247980] |
Chr3:123738881..123738884 [GRCh38] Chr3:123457728..123457731 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.771T>C (p.Asn257=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000552649]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380533]|not provided [RCV001722353]|not specified [RCV000243196] |
Chr3:123735400 [GRCh38] Chr3:123454247 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4710G>A (p.Ser1570=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002058385]|Aortic aneurysm, familial thoracic 7 [RCV002479972]|Familial thoracic aortic aneurysm and aortic dissection [RCV003165696]|not provided [RCV001567571]|not specified [RCV000243328] |
Chr3:123640414 [GRCh38] Chr3:123359261 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5001C>T (p.Asn1667=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648747]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770611]|not provided [RCV001697629]|not specified [RCV000245685] |
Chr3:123629587 [GRCh38] Chr3:123348434 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000464822]|Aortic aneurysm, familial thoracic 7 [RCV002494796]|Connective tissue disorder [RCV000680571]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311219]|not provided [RCV001701984]|not specified [RCV000609787] |
Chr3:123700226 [GRCh38] Chr3:123419073 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.993G>A (p.Thr331=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000533195]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310903]|not provided [RCV001697697] |
Chr3:123734003 [GRCh38] Chr3:123452850 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.5114+8G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001000715]|Connective tissue disorder [RCV000680566]|not provided [RCV000762379]|not specified [RCV000250635] |
Chr3:123629466 [GRCh38] Chr3:123348313 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000465223]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798792]|not provided [RCV001697676] |
Chr3:123618691 [GRCh38] Chr3:123337538 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.4620-4G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000865701]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770614]|not provided [RCV001722378] |
Chr3:123640508 [GRCh38] Chr3:123359355 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.4620-12G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000319646]|not specified [RCV000243431] |
Chr3:123640516 [GRCh38] Chr3:123359363 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001082752]|Aortic aneurysm, familial thoracic 7 [RCV002503964]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770617]|not provided [RCV000756397]|not specified [RCV000441978] |
Chr3:123649037 [GRCh38] Chr3:123367884 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.4620-18G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002058384]|not provided [RCV000515068]|not specified [RCV000248378] |
Chr3:123640522 [GRCh38] Chr3:123359369 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1496G>C (p.Ser499Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002518735]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798761] |
Chr3:123732916 [GRCh38] Chr3:123451763 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3565+7C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000267262] |
Chr3:123692728 [GRCh38] Chr3:123411575 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2124C>T (p.Ala708=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000863386]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418206]|not provided [RCV001712076] |
Chr3:123708714 [GRCh38] Chr3:123427561 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000460022]|Aortic aneurysm, familial thoracic 7 [RCV002480198]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170120]|not provided [RCV000998134]|not specified [RCV001797708] |
Chr3:123682266 [GRCh38] Chr3:123401113 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.682G>A (p.Val228Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000373689]|Inborn genetic diseases [RCV003243101]|not provided [RCV001764310] |
Chr3:123737450 [GRCh38] Chr3:123456297 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.*197T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000374242] |
Chr3:123613908 [GRCh38] Chr3:123332755 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.601C>T (p.Leu201=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000526771]|not provided [RCV001576377] |
Chr3:123737531 [GRCh38] Chr3:123456378 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.2781C>T (p.Ala927=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000353373] |
Chr3:123700687 [GRCh38] Chr3:123419534 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.*95C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000334830] |
Chr3:123614010 [GRCh38] Chr3:123332857 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1302T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000354732] |
Chr3:123612803 [GRCh38] Chr3:123331650 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-72C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001000113]|not provided [RCV001812881] |
Chr3:123831616 [GRCh38] Chr3:123550463 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1651+7T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000336248] |
Chr3:123725937 [GRCh38] Chr3:123444784 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.-185-5A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000378921] |
Chr3:123876622 [GRCh38] Chr3:123595469 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5703G>A (p.Thr1901=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000303162]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348096]|not specified [RCV000612143] |
Chr3:123614147 [GRCh38] Chr3:123332994 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.-24C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000318385]|not specified [RCV000606003] |
Chr3:123831568 [GRCh38] Chr3:123550415 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000415658]|Connective tissue disorder [RCV000680564]|Familial thoracic aortic aneurysm and aortic dissection [RCV000337416]|not provided [RCV000757532]|not specified [RCV000420099] |
Chr3:123708870 [GRCh38] Chr3:123427717 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_053025.4(MYLK):c.*1191T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000379263]|Aortic aneurysm, familial thoracic 7 [RCV002488737] |
Chr3:123612914 [GRCh38] Chr3:123331761 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*406G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000381348] |
Chr3:123613699 [GRCh38] Chr3:123332546 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000461481]|Connective tissue disorder [RCV000680573]|Familial thoracic aortic aneurysm and aortic dissection [RCV000382242]|not provided [RCV001701861]|not specified [RCV000429210] |
Chr3:123707891 [GRCh38] Chr3:123426738 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.*612C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000321095] |
Chr3:123613493 [GRCh38] Chr3:123332340 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.559C>T (p.Arg187Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001052317]|Inborn genetic diseases [RCV002520074]|not provided [RCV003133240] |
Chr3:123738926 [GRCh38] Chr3:123457773 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1809A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000756395] |
Chr3:123612296 [GRCh38] Chr3:123331143 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.*1135G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000290950] |
Chr3:123612970 [GRCh38] Chr3:123331817 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001089097]|Familial thoracic aortic aneurysm and aortic dissection [RCV000305847]|not provided [RCV000827130] |
Chr3:123725965 [GRCh38] Chr3:123444812 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.*1176del |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV000321344] |
Chr3:123612929 [GRCh38] Chr3:123331776 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000457820]|Familial thoracic aortic aneurysm and aortic dissection [RCV000306545]|not provided [RCV001597109]|not specified [RCV001269125] |
Chr3:123618698 [GRCh38] Chr3:123337545 [GRCh37] Chr3:3q21.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.-153C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000323742] |
Chr3:123876585 [GRCh38] Chr3:123595432 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.5329C>T (p.Pro1777Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000363594]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348097]|not provided [RCV002305482] |
Chr3:123620246 [GRCh38] Chr3:123339093 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000292530]|Aortic aneurysm, familial thoracic 7 [RCV002488739]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314068]|not provided [RCV001753805] |
Chr3:123700532 [GRCh38] Chr3:123419379 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648746]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314066]|not provided [RCV001698129] |
Chr3:123640399 [GRCh38] Chr3:123359246 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000549158]|Aortic aneurysm, familial thoracic 7 [RCV002488740]|Familial thoracic aortic aneurysm and aortic dissection [RCV002450914]|not provided [RCV001580019] |
Chr3:123701439 [GRCh38] Chr3:123420286 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-197T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000344028]|not specified [RCV000420282] |
Chr3:123884217 [GRCh38] Chr3:123603064 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1213A>G (p.Met405Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000469893]|Familial thoracic aortic aneurysm and aortic dissection [RCV002356474] |
Chr3:123733783 [GRCh38] Chr3:123452630 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.374-9T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000346768]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150191] |
Chr3:123740010 [GRCh38] Chr3:123458857 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.*1538A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000367395] |
Chr3:123612567 [GRCh38] Chr3:123331414 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000390601]|not provided [RCV001812880] |
Chr3:123657310 [GRCh38] Chr3:123376157 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.4289-13del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV002057827]|Familial thoracic aortic aneurysm and aortic dissection [RCV000310787]|not provided [RCV001705511]|not specified [RCV002230716] |
Chr3:123649207 [GRCh38] Chr3:123368054 [GRCh37] Chr3:3q21.1 |
benign|likely benign|uncertain significance |
NM_053025.4(MYLK):c.1952C>T (p.Pro651Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000391508] |
Chr3:123708886 [GRCh38] Chr3:123427733 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000415686]|Familial thoracic aortic aneurysm and aortic dissection [RCV000311628]|not provided [RCV000592069] |
Chr3:123752448 [GRCh38] Chr3:123471295 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.969G>A (p.Glu323=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001395280]|Familial thoracic aortic aneurysm and aortic dissection [RCV000370204] |
Chr3:123734027 [GRCh38] Chr3:123452874 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001078568]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798793]|not provided [RCV000465200]|not specified [RCV003235194] |
Chr3:123664175 [GRCh38] Chr3:123383022 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.4289-4C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000393869] |
Chr3:123649198 [GRCh38] Chr3:123368045 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*945G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000349466]|Aortic aneurysm, familial thoracic 7 [RCV002504150] |
Chr3:123613160 [GRCh38] Chr3:123332007 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.*213T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000349744] |
Chr3:123613892 [GRCh38] Chr3:123332739 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.*1653G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000371085]|Aortic aneurysm, familial thoracic 7 [RCV002487506] |
Chr3:123612452 [GRCh38] Chr3:123331299 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1576G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000312920] |
Chr3:123612529 [GRCh38] Chr3:123331376 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000528252]|Aortic aneurysm, familial thoracic 7 [RCV003224265]|Connective tissue disorder [RCV000659949]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170118]|not provided [RCV001718726] |
Chr3:123664192 [GRCh38] Chr3:123383039 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.4415+9A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000554963]|Familial thoracic aortic aneurysm and aortic dissection [RCV000372053]|not provided [RCV001697828]|not specified [RCV003330649] |
Chr3:123648962 [GRCh38] Chr3:123367809 [GRCh37] Chr3:3q21.1 |
benign|likely benign|uncertain significance |
NM_053025.4(MYLK):c.*165del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV002488738]|Familial thoracic aortic aneurysm and aortic dissection [RCV000282014] |
Chr3:123613940 [GRCh38] Chr3:123332787 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1174_*1177dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV000284843] |
Chr3:123612927..123612928 [GRCh38] Chr3:123331774..123331775 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.*764_*765dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV000298955] |
Chr3:123613339..123613340 [GRCh38] Chr3:123332186..123332187 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.*76_*77insAC |
insertion |
Familial thoracic aortic aneurysm and aortic dissection [RCV000303906] |
Chr3:123614028..123614029 [GRCh38] Chr3:123332875..123332876 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.859A>G (p.Ser287Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001067042]|not provided [RCV003441847] |
Chr3:123734137 [GRCh38] Chr3:123452984 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1509_*1511dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV000318602] |
Chr3:123612593..123612594 [GRCh38] Chr3:123331440..123331441 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648725]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314013]|not provided [RCV000351703]|not specified [RCV003323492] |
Chr3:123700839 [GRCh38] Chr3:123419686 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.*1526C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000263377] |
Chr3:123612579 [GRCh38] Chr3:123331426 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*76dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV000342459] |
Chr3:123614028..123614029 [GRCh38] Chr3:123332875..123332876 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-130A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000263970] |
Chr3:123876562 [GRCh38] Chr3:123595409 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.570G>T (p.Pro190=) |
single nucleotide variant |
not provided [RCV000360647] |
Chr3:123738915 [GRCh38] Chr3:123457762 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5224A>G (p.Arg1742Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000277659] |
Chr3:123626832 [GRCh38] Chr3:123345679 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*765dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV000406564] |
Chr3:123613339..123613340 [GRCh38] Chr3:123332186..123332187 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1340G>C (p.Trp447Ser) |
single nucleotide variant |
not provided [RCV000367757] |
Chr3:123733072 [GRCh38] Chr3:123451919 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*712G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000268228] |
Chr3:123613393 [GRCh38] Chr3:123332240 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2643G>A (p.Gln881=) |
single nucleotide variant |
not provided [RCV000266654] |
Chr3:123700825 [GRCh38] Chr3:123419672 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.3380_3382delinsGCC (p.Ala1127_Thr1128delinsGlyPro) |
indel |
not provided [RCV000300723] |
Chr3:123700086..123700088 [GRCh38] Chr3:123418933..123418935 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.149C>T (p.Ala50Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001851307]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769346]|not provided [RCV000489357] |
Chr3:123793693 [GRCh38] Chr3:123512540 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3120C>T (p.Asn1040=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000532459]|Familial thoracic aortic aneurysm and aortic dissection [RCV002324020]|not provided [RCV001571215] |
Chr3:123700348 [GRCh38] Chr3:123419195 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4425T>G (p.Phe1475Leu) |
single nucleotide variant |
not provided [RCV000488042] |
Chr3:123647418 [GRCh38] Chr3:123366265 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5120G>A (p.Arg1707His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000531919]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798894]|not provided [RCV001755871] |
Chr3:123626936 [GRCh38] Chr3:123345783 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4066T>C (p.Ser1356Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003311143] |
Chr3:123657348 [GRCh38] Chr3:123376195 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1569C>T (p.Cys523=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001086427]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168989]|not provided [RCV000488368] |
Chr3:123726026 [GRCh38] Chr3:123444873 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.4054T>C (p.Trp1352Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001068468] |
Chr3:123657360 [GRCh38] Chr3:123376207 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1630G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000399040] |
Chr3:123612475 [GRCh38] Chr3:123331322 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1041G>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000345842] |
Chr3:123613064 [GRCh38] Chr3:123331911 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*246A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000292415] |
Chr3:123613859 [GRCh38] Chr3:123332706 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*258G>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000332338] |
Chr3:123613847 [GRCh38] Chr3:123332694 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2564C>T (p.Ala855Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000364908]|Familial thoracic aortic aneurysm and aortic dissection [RCV002429305] |
Chr3:123700904 [GRCh38] Chr3:123419751 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*77dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV000402451] |
Chr3:123614027..123614028 [GRCh38] Chr3:123332874..123332875 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-228C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000384621]|Aortic aneurysm, familial thoracic 7 [RCV002487507] |
Chr3:123884248 [GRCh38] Chr3:123603095 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*857_*860dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV000403657] |
Chr3:123613244..123613245 [GRCh38] Chr3:123332091..123332092 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*960C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000294544] |
Chr3:123613145 [GRCh38] Chr3:123331992 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2829G>T (p.Arg943Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000405407]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150190] |
Chr3:123700639 [GRCh38] Chr3:123419486 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1671A>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000307048] |
Chr3:123612434 [GRCh38] Chr3:123331281 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2779G>A (p.Ala927Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000406308] |
Chr3:123700689 [GRCh38] Chr3:123419536 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-288C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000365340] |
Chr3:123884308 [GRCh38] Chr3:123603155 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.*252T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000389185] |
Chr3:123613853 [GRCh38] Chr3:123332700 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1297T>C (p.Phe433Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000309567]|Familial thoracic aortic aneurysm and aortic dissection [RCV002379234] |
Chr3:123733699 [GRCh38] Chr3:123452546 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2113C>T (p.Arg705Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001860297]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315916]|not provided [RCV000866251]|not specified [RCV003330826] |
Chr3:123708725 [GRCh38] Chr3:123427572 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.123C>A (p.Asn41Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000298327] |
Chr3:123793719 [GRCh38] Chr3:123512566 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1210T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000324737] |
Chr3:123612895 [GRCh38] Chr3:123331742 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1031C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000391779] |
Chr3:123613074 [GRCh38] Chr3:123331921 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3024G>A (p.Val1008=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000980685] |
Chr3:123700444 [GRCh38] Chr3:123419291 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.2462+19T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002531553]|not specified [RCV000605162] |
Chr3:123701419 [GRCh38] Chr3:123420266 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.844G>A (p.Glu282Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313429]|not provided [RCV001756008] |
Chr3:123734152 [GRCh38] Chr3:123452999 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*812C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000300169] |
Chr3:123613293 [GRCh38] Chr3:123332140 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*802C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000357329] |
Chr3:123613303 [GRCh38] Chr3:123332150 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3479C>T (p.Ala1160Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001860401]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313455]|not provided [RCV003320714] |
Chr3:123692821 [GRCh38] Chr3:123411668 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2433A>G (p.Leu811=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313447] |
Chr3:123701467 [GRCh38] Chr3:123420314 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.-186+10C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000289164] |
Chr3:123884196 [GRCh38] Chr3:123603043 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*334_*335insAAATGC |
insertion |
Familial thoracic aortic aneurysm and aortic dissection [RCV000289340] |
Chr3:123613770..123613771 [GRCh38] Chr3:123332617..123332618 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3831+5G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313419] |
Chr3:123666214 [GRCh38] Chr3:123385061 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2396G>A (p.Arg799Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313446] |
Chr3:123701504 [GRCh38] Chr3:123420351 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-277T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000290118] |
Chr3:123884297 [GRCh38] Chr3:123603144 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*524C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000359464] |
Chr3:123613581 [GRCh38] Chr3:123332428 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*416dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV000329057] |
Chr3:123613688..123613689 [GRCh38] Chr3:123332535..123332536 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*713C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000360635] |
Chr3:123613392 [GRCh38] Chr3:123332239 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4055G>T (p.Trp1352Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001859102]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170116] |
Chr3:123657359 [GRCh38] Chr3:123376206 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2331C>T (p.Phe777=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001417896]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170126] |
Chr3:123707813 [GRCh38] Chr3:123426660 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2103T>C (p.Ala701=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170128] |
Chr3:123708735 [GRCh38] Chr3:123427582 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3831+10G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000867787]|not specified [RCV000600444] |
Chr3:123666209 [GRCh38] Chr3:123385056 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1170G>C (p.Gly390=) |
single nucleotide variant |
not provided [RCV000591793] |
Chr3:123733826 [GRCh38] Chr3:123452673 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2820G>A (p.Glu940=) |
single nucleotide variant |
not specified [RCV000601332] |
Chr3:123700648 [GRCh38] Chr3:123419495 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4296G>A (p.Lys1432=) |
single nucleotide variant |
not specified [RCV000601567] |
Chr3:123649187 [GRCh38] Chr3:123368034 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2076G>A (p.Thr692=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648745]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313430]|not provided [RCV001764734] |
Chr3:123708762 [GRCh38] Chr3:123427609 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5501-3C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313454] |
Chr3:123614352 [GRCh38] Chr3:123333199 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2462+5G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000707577]|Aortic aneurysm, familial thoracic 7 [RCV002476346]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798916]|not provided [RCV000598662] |
Chr3:123701433 [GRCh38] Chr3:123420280 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2598C>T (p.Gly866=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001860230]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431759]|not provided [RCV000598835]|not specified [RCV002232716] |
Chr3:123700870 [GRCh38] Chr3:123419717 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2701C>G (p.Leu901Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000531551]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431673]|not provided [RCV001540287] |
Chr3:123700767 [GRCh38] Chr3:123419614 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.344G>A (p.Arg115His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000795823]|not provided [RCV000585612]|not specified [RCV003155241] |
Chr3:123752360 [GRCh38] Chr3:123471207 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.3652_3652+1del |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV000551323] |
Chr3:123682223..123682224 [GRCh38] Chr3:123401070..123401071 [GRCh37] Chr3:3q21.1 |
pathogenic|uncertain significance |
NM_053025.4(MYLK):c.2791_2792delinsAT (p.Arg931Met) |
indel |
Familial thoracic aortic aneurysm and aortic dissection [RCV002438545]|not provided [RCV000599478] |
Chr3:123700676..123700677 [GRCh38] Chr3:123419523..123419524 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-185-18C>T |
single nucleotide variant |
not specified [RCV000601169] |
Chr3:123876635 [GRCh38] Chr3:123595482 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1955C>G (p.Pro652Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002506404]|Congenital aneurysm of ascending aorta [RCV001796131] |
Chr3:123708883 [GRCh38] Chr3:123427730 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2390+2T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000615028] |
Chr3:123707752 [GRCh38] Chr3:123426599 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.1570G>A (p.Ala524Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313417]|not provided [RCV003441971]|not specified [RCV001805222] |
Chr3:123726025 [GRCh38] Chr3:123444872 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2631G>A (p.Val877=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002060674]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313452]|not specified [RCV001823738] |
Chr3:123700837 [GRCh38] Chr3:123419684 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1375G>A (p.Gly459Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001868128]|Aortic aneurysm, familial thoracic 7 [RCV002477358]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315068]|not provided [RCV001574782] |
Chr3:123733037 [GRCh38] Chr3:123451884 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5715T>G (p.Gly1905=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001423726]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350483]|not provided [RCV000648750] |
Chr3:123614135 [GRCh38] Chr3:123332982 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.-4G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002481277]|not specified [RCV000414280] |
Chr3:123831548 [GRCh38] Chr3:123550395 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.554C>G (p.Thr185Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000807946]|not specified [RCV000414313] |
Chr3:123738931 [GRCh38] Chr3:123457778 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000415627]|Connective tissue disorder [RCV000659931]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348140]|not provided [RCV001753851] |
Chr3:123793723 [GRCh38] Chr3:123512570 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2096A>G (p.Asn699Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000534838]|Familial thoracic aortic aneurysm and aortic dissection [RCV002420491]|not provided [RCV001508502] |
Chr3:123708742 [GRCh38] Chr3:123427589 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5287A>G (p.Met1763Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000537332] |
Chr3:123620288 [GRCh38] Chr3:123339135 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4289-10_4289-9dup |
duplication |
Aortic aneurysm, familial thoracic 7 [RCV000541576]|Familial thoracic aortic aneurysm and aortic dissection [RCV002330938]|not specified [RCV000733357] |
Chr3:123649196..123649197 [GRCh38] Chr3:123368043..123368044 [GRCh37] Chr3:3q21.1 |
benign|likely benign|uncertain significance |
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000755687] |
Chr3:123738980 [GRCh38] Chr3:123457827 [GRCh37] Chr3:3q21.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.3265_3266del (p.Lys1089fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV000537895] |
Chr3:123700202..123700203 [GRCh38] Chr3:123419049..123419050 [GRCh37] Chr3:3q21.1 |
pathogenic|uncertain significance |
NM_053025.4(MYLK):c.2260T>C (p.Trp754Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000535750] |
Chr3:123707884 [GRCh38] Chr3:123426731 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4014T>C (p.Pro1338=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000540686]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315009]|not provided [RCV001707735]|not specified [RCV003323610] |
Chr3:123657400 [GRCh38] Chr3:123376247 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1028G>T (p.Ser343Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000541861]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315005] |
Chr3:123733968 [GRCh38] Chr3:123452815 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2404G>A (p.Glu802Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000536683]|Aortic aneurysm, familial thoracic 7 [RCV002497169]|not provided [RCV002060345] |
Chr3:123701496 [GRCh38] Chr3:123420343 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.830A>G (p.Asn277Ser) |
single nucleotide variant |
not provided [RCV000734959] |
Chr3:123734166 [GRCh38] Chr3:123453013 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.465C>A (p.Ile155=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000530981]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315010]|not provided [RCV001546306] |
Chr3:123739020 [GRCh38] Chr3:123457867 [GRCh37] Chr3:3q21.1 |
likely benign |
GRCh37/hg19 3q21.1(chr3:123477546-123688038)x1 |
copy number loss |
See cases [RCV000447030] |
Chr3:123477546..123688038 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.3184G>T (p.Ala1062Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648724]|Familial aortic aneurysms [RCV000417348]|not provided [RCV000494597] |
Chr3:123700284 [GRCh38] Chr3:123419131 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1132C>G (p.Arg378Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000457454]|Aortic aneurysm, familial thoracic 7 [RCV002481333]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313130]|not provided [RCV001704521]|not specified [RCV003330678] |
Chr3:123733864 [GRCh38] Chr3:123452711 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.755-12C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001146464]|Connective tissue disorder [RCV000659936]|not provided [RCV001810939]|not specified [RCV000441344] |
Chr3:123735428 [GRCh38] Chr3:123454275 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.1785C>T (p.Ser595=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001079351]|Familial thoracic aortic aneurysm and aortic dissection [RCV002411390]|not provided [RCV000554910] |
Chr3:123722147 [GRCh38] Chr3:123440994 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2009A>T (p.His670Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000558787]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418340]|not provided [RCV000441665] |
Chr3:123708829 [GRCh38] Chr3:123427676 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5155C>T (p.Leu1719=) |
single nucleotide variant |
not provided [RCV000417787] |
Chr3:123626901 [GRCh38] Chr3:123345748 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1516+16C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002063342]|Aortic aneurysm, familial thoracic 7 [RCV002502555]|not provided [RCV001810931]|not specified [RCV000438132] |
Chr3:123732880 [GRCh38] Chr3:123451727 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000464435]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769340]|not provided [RCV001580016]|not specified [RCV000424714] |
Chr3:123732896 [GRCh38] Chr3:123451743 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.2133G>A (p.Thr711=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000862631]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418331]|not provided [RCV001696778] |
Chr3:123708705 [GRCh38] Chr3:123427552 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2119C>T (p.Gln707Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001065127]|Aortic aneurysm, familial thoracic 7 [RCV002480290]|not provided [RCV000425459] |
Chr3:123708719 [GRCh38] Chr3:123427566 [GRCh37] Chr3:3q21.1 |
pathogenic|uncertain significance |
NM_053025.4(MYLK):c.474G>T (p.Glu158Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000475089]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168654]|not provided [RCV000422448] |
Chr3:123739011 [GRCh38] Chr3:123457858 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-127+7G>A |
single nucleotide variant |
not specified [RCV000436423] |
Chr3:123876552 [GRCh38] Chr3:123595399 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2328G>A (p.Val776=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000863408]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298455]|not provided [RCV001712312] |
Chr3:123707816 [GRCh38] Chr3:123426663 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5055C>T (p.Phe1685=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000871570]|Familial thoracic aortic aneurysm and aortic dissection [RCV002339080]|not specified [RCV000426579] |
Chr3:123629533 [GRCh38] Chr3:123348380 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.-175T>C |
single nucleotide variant |
not specified [RCV000420274] |
Chr3:123876607 [GRCh38] Chr3:123595454 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2183G>A (p.Arg728His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648717]|not provided [RCV000430859] |
Chr3:123707961 [GRCh38] Chr3:123426808 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2462+7G>A |
single nucleotide variant |
not specified [RCV000444751] |
Chr3:123701431 [GRCh38] Chr3:123420278 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4489_4493del (p.Ala1497fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV000462848] |
Chr3:123647350..123647354 [GRCh38] Chr3:123366197..123366201 [GRCh37] Chr3:3q21.1 |
pathogenic|likely pathogenic |
NM_053025.4(MYLK):c.4207C>T (p.Arg1403Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000466538]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298493]|not provided [RCV002051854] |
Chr3:123657207 [GRCh38] Chr3:123376054 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4225G>A (p.Val1409Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000463109]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329061]|not provided [RCV001840576] |
Chr3:123657189 [GRCh38] Chr3:123376036 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1356C>T (p.Thr452=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000466893]|Familial thoracic aortic aneurysm and aortic dissection [RCV002383887] |
Chr3:123733056 [GRCh38] Chr3:123451903 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3462C>T (p.Ser1154=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000459506]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298531]|not specified [RCV000506464] |
Chr3:123692838 [GRCh38] Chr3:123411685 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3336C>A (p.Gly1112=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000463321]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168906] |
Chr3:123700132 [GRCh38] Chr3:123418979 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.4170C>T (p.Asn1390=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000470733]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298533]|not provided [RCV001712320] |
Chr3:123657244 [GRCh38] Chr3:123376091 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3449-11_3449-9del |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV001441662] |
Chr3:123692860..123692862 [GRCh38] Chr3:123411707..123411709 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5368+13_5368+21del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV002063740]|Connective tissue disorder [RCV000659951]|not provided [RCV001810971]|not specified [RCV000484052] |
Chr3:123620186..123620194 [GRCh38] Chr3:123339033..123339041 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000467332]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770616]|MYLK-related condition [RCV003401479]|not provided [RCV000756399] |
Chr3:123647278 [GRCh38] Chr3:123366125 [GRCh37] Chr3:3q21.1 |
likely pathogenic|uncertain significance |
NM_053025.4(MYLK):c.4941C>T (p.Ile1647=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000470973]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298532]|not provided [RCV001574189] |
Chr3:123638091 [GRCh38] Chr3:123356938 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000471078]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170113]|not provided [RCV001721537]|not specified [RCV000610192] |
Chr3:123626935 [GRCh38] Chr3:123345782 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.2663G>A (p.Arg888His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000690992]|Familial thoracic aortic aneurysm and aortic dissection [RCV002466518]|not provided [RCV000480103] |
Chr3:123700805 [GRCh38] Chr3:123419652 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3916G>A (p.Gly1306Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000459888] |
Chr3:123664174 [GRCh38] Chr3:123383021 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1396G>A (p.Asp466Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000463774] |
Chr3:123733016 [GRCh38] Chr3:123451863 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4335C>T (p.Pro1445=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000475029]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329129]|not provided [RCV001564623] |
Chr3:123649051 [GRCh38] Chr3:123367898 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3193G>C (p.Glu1065Gln) |
single nucleotide variant |
not provided [RCV000480510] |
Chr3:123700275 [GRCh38] Chr3:123419122 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5374G>A (p.Val1792Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000463934]|Aortic aneurysm, familial thoracic 7 [RCV002489058]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348319]|not provided [RCV002291634] |
Chr3:123618765 [GRCh38] Chr3:123337612 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1167G>A (p.Leu389=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000464077]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329130] |
Chr3:123733829 [GRCh38] Chr3:123452676 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5119C>T (p.Arg1707Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000467734] |
Chr3:123626937 [GRCh38] Chr3:123345784 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4916G>C (p.Gly1639Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000471553]|Aortic aneurysm, familial thoracic 7 [RCV002480413]|Inborn genetic diseases [RCV002523318] |
Chr3:123638116 [GRCh38] Chr3:123356963 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.711C>T (p.Asn237=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000475167]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170674]|not provided [RCV001579819]|not specified [RCV003323558] |
Chr3:123737421 [GRCh38] Chr3:123456268 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.617G>T (p.Arg206Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000456669]|MYLK-related condition [RCV003409630] |
Chr3:123737515 [GRCh38] Chr3:123456362 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.463A>G (p.Ile155Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000456784] |
Chr3:123739022 [GRCh38] Chr3:123457869 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000460571]|Connective tissue disorder [RCV000659940]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313176]|not provided [RCV001721500]|not specified [RCV000482145] |
Chr3:123725986 [GRCh38] Chr3:123444833 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3397C>T (p.Leu1133=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000456839] |
Chr3:123700071 [GRCh38] Chr3:123418918 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4397T>C (p.Ile1466Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000460668]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329060] |
Chr3:123648989 [GRCh38] Chr3:123367836 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3899C>T (p.Ala1300Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000464329]|Inborn genetic diseases [RCV002526422] |
Chr3:123664191 [GRCh38] Chr3:123383038 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4246A>G (p.Ser1416Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000457102] |
Chr3:123657168 [GRCh38] Chr3:123376015 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4715G>A (p.Gly1572Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000460947]|Familial thoracic aortic aneurysm and aortic dissection [RCV002339167] |
Chr3:123640409 [GRCh38] Chr3:123359256 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2439C>G (p.Asn813Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000468542] |
Chr3:123701461 [GRCh38] Chr3:123420308 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1433G>A (p.Arg478Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000472162] |
Chr3:123732979 [GRCh38] Chr3:123451826 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000472608]|Aortic aneurysm, familial thoracic 7 [RCV002502598]|Atrial septal defect [RCV000582875]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313152]|not provided [RCV000756401]|not specified [RCV000455436] |
Chr3:123682239 [GRCh38] Chr3:123401086 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000457297]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313175] |
Chr3:123722187 [GRCh38] Chr3:123441034 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.2898C>T (p.Pro966=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000461268]|Familial thoracic aortic aneurysm and aortic dissection [RCV002436501]|not provided [RCV001569302] |
Chr3:123700570 [GRCh38] Chr3:123419417 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1724C>T (p.Pro575Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000472490]|Aortic aneurysm, familial thoracic 7 [RCV002489059]|Familial thoracic aortic aneurysm and aortic dissection [RCV002402275]|not provided [RCV001561533] |
Chr3:123722208 [GRCh38] Chr3:123441055 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4813G>A (p.Asp1605Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000461486] |
Chr3:123640311 [GRCh38] Chr3:123359158 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1359C>T (p.Pro453=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000468808]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313224] |
Chr3:123733053 [GRCh38] Chr3:123451900 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.2584G>C (p.Glu862Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001856880]|not provided [RCV000486423] |
Chr3:123700884 [GRCh38] Chr3:123419731 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.179C>T (p.Pro60Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000457727]|Familial thoracic aortic aneurysm and aortic dissection [RCV002411479] |
Chr3:123752525 [GRCh38] Chr3:123471372 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2464G>A (p.Gly822Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000461567] |
Chr3:123701004 [GRCh38] Chr3:123419851 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2061G>A (p.Pro687=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000461668]|not provided [RCV001712319] |
Chr3:123708777 [GRCh38] Chr3:123427624 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.143C>G (p.Ala48Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000465436] |
Chr3:123793699 [GRCh38] Chr3:123512546 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4289-9C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000469181]|not specified [RCV000611747] |
Chr3:123649203 [GRCh38] Chr3:123368050 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.3121G>A (p.Ala1041Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000472877]|Aortic aneurysm, familial thoracic 7 [RCV002480415]|MYLK-related condition [RCV003418191]|not provided [RCV001552695] |
Chr3:123700347 [GRCh38] Chr3:123419194 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2938dup (p.Asp980fs) |
duplication |
not specified [RCV000455934] |
Chr3:123700529..123700530 [GRCh38] Chr3:123419376..123419377 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.463A>C (p.Ile155Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000472982] |
Chr3:123739022 [GRCh38] Chr3:123457869 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.298G>A (p.Asp100Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000476921]|Familial thoracic aortic aneurysm and aortic dissection [RCV002436436] |
Chr3:123752406 [GRCh38] Chr3:123471253 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.159dup (p.Gly54fs) |
duplication |
not provided [RCV000478149] |
Chr3:123793682..123793683 [GRCh38] Chr3:123512529..123512530 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5369-10T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001079067]|Connective tissue disorder [RCV000659952]|not provided [RCV000523268] |
Chr3:123618780 [GRCh38] Chr3:123337627 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3137C>T (p.Thr1046Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000473213]|not specified [RCV003114584] |
Chr3:123700331 [GRCh38] Chr3:123419178 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.695C>T (p.Thr232Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000473270]|not provided [RCV001775810]|not specified [RCV003323548] |
Chr3:123737437 [GRCh38] Chr3:123456284 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4221C>A (p.Ile1407=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000458563]|Aortic aneurysm, familial thoracic 7 [RCV002496832]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168907]|not specified [RCV000611178] |
Chr3:123657193 [GRCh38] Chr3:123376040 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3824G>A (p.Arg1275Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000466129]|not provided [RCV000523772] |
Chr3:123666226 [GRCh38] Chr3:123385073 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2983A>G (p.Asn995Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000469767]|Aortic aneurysm, familial thoracic 7 [RCV002480412]|not provided [RCV001753893] |
Chr3:123700485 [GRCh38] Chr3:123419332 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1212C>A (p.Pro404=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000469884]|Familial thoracic aortic aneurysm and aortic dissection [RCV002356742]|not provided [RCV001707706] |
Chr3:123733784 [GRCh38] Chr3:123452631 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000477311]|Familial thoracic aortic aneurysm and aortic dissection [RCV002374786] |
Chr3:123734095 [GRCh38] Chr3:123452942 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.2458C>T (p.Pro820Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000477385]|Inborn genetic diseases [RCV002525580] |
Chr3:123701442 [GRCh38] Chr3:123420289 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1348_1356delinsTCT (p.Glu450_Thr452delinsSer) |
indel |
Aortic aneurysm, familial thoracic 7 [RCV000466368]|Aortic aneurysm, familial thoracic 7 [RCV002480414]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298494]|not provided [RCV001775811] |
Chr3:123733056..123733064 [GRCh38] Chr3:123451903..123451911 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3545C>T (p.Ser1182Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000469933]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168815] |
Chr3:123692755 [GRCh38] Chr3:123411602 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2595C>T (p.Asp865=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001851124]|not specified [RCV003330710] |
Chr3:123700873 [GRCh38] Chr3:123419720 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.5166T>C (p.Asp1722=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000477622]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341101]|not specified [RCV003330709] |
Chr3:123626890 [GRCh38] Chr3:123345737 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
GRCh37/hg19 3q21.1(chr3:123288885-123426682)x3 |
copy number gain |
See cases [RCV000510475] |
Chr3:123288885..123426682 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1413C>G (p.Tyr471Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001299975]|Aortic aneurysm, familial thoracic 7 [RCV002506236]|Familial thoracic aortic aneurysm and aortic dissection [RCV002395227]|not provided [RCV001575716]|not specified [RCV000508515] |
Chr3:123732999 [GRCh38] Chr3:123451846 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3838_3844dup (p.Glu1282fs) |
duplication |
Megacystis, microcolon, hypoperistalsis syndrome [RCV001804175]|Visceral myopathy 1 [RCV000508615] |
Chr3:123664245..123664246 [GRCh38] Chr3:123383092..123383093 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.3985+5G>T |
single nucleotide variant |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 [RCV001804176]|Visceral myopathy 1 [RCV000508669] |
Chr3:123664100 [GRCh38] Chr3:123382947 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.2481C>G (p.Ser827Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001325607]|Aortic aneurysm, familial thoracic 7 [RCV002475973]|not provided [RCV000494017] |
Chr3:123700987 [GRCh38] Chr3:123419834 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2132C>T (p.Thr711Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001370965]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314850]|not provided [RCV000494155]|not specified [RCV003330726] |
Chr3:123708706 [GRCh38] Chr3:123427553 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3832-9C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001395270]|not provided [RCV000868757]|not specified [RCV000505887] |
Chr3:123664267 [GRCh38] Chr3:123383114 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
Single allele |
variation |
not specified [RCV000506306] |
Chr3:123649196..123649197 [GRCh38] Chr3:123368044..123368045 [GRCh37] Chr3:3q21.1 |
benign |
NM_053025.4(MYLK):c.4681G>C (p.Glu1561Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000490635]|not provided [RCV000585062] |
Chr3:123640443 [GRCh38] Chr3:123359290 [GRCh37] Chr3:3q21.1 |
likely pathogenic|likely benign|uncertain significance |
NM_053025.4(MYLK):c.1209C>A (p.Ile403=) |
single nucleotide variant |
not provided [RCV000506553] |
Chr3:123733787 [GRCh38] Chr3:123452634 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5238+22A>T |
single nucleotide variant |
not specified [RCV000506901] |
Chr3:123626796 [GRCh38] Chr3:123345643 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648766]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341196]|not provided [RCV002264948]|not specified [RCV000506993] |
Chr3:123638150 [GRCh38] Chr3:123356997 [GRCh37] Chr3:3q21.1 |
benign|likely benign|uncertain significance |
NM_053025.4(MYLK):c.226G>A (p.Gly76Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000548227]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314886]|not provided [RCV001356273] |
Chr3:123752478 [GRCh38] Chr3:123471325 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.992C>T (p.Thr331Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001865535]|Aortic aneurysm, familial thoracic 7 [RCV002481560]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170673]|not provided [RCV000493211]|not specified [RCV001269252] |
Chr3:123734004 [GRCh38] Chr3:123452851 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000578292]|not provided [RCV001755964] |
Chr3:123733091 [GRCh38] Chr3:123451938 [GRCh37] Chr3:3q21.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 3q21.1(chr3:123563319-123618911)x0 |
copy number loss |
See cases [RCV000510868] |
Chr3:123563319..123618911 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.4343A>T (p.Asp1448Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002525244]|not provided [RCV000519402] |
Chr3:123649043 [GRCh38] Chr3:123367890 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1334T>G (p.Val445Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000555814]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384203] |
Chr3:123733078 [GRCh38] Chr3:123451925 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3985+14C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002529535]|not specified [RCV000602629] |
Chr3:123664091 [GRCh38] Chr3:123382938 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.164G>A (p.Arg55Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002531834]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313416] |
Chr3:123793678 [GRCh38] Chr3:123512525 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3639G>A (p.Val1213=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000534286]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170119]|not provided [RCV001579511] |
Chr3:123682237 [GRCh38] Chr3:123401084 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1669G>A (p.Ala557Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001367295]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313421]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 [RCV003446264]|not provided [RCV001775925] |
Chr3:123722263 [GRCh38] Chr3:123441110 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3203A>G (p.Lys1068Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000557324]|Familial thoracic aortic aneurysm and aortic dissection [RCV003278907]|not specified [RCV002232088] |
Chr3:123700265 [GRCh38] Chr3:123419112 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.608C>A (p.Pro203Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000539231]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358564]|not provided [RCV003231528] |
Chr3:123737524 [GRCh38] Chr3:123456371 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4289-6C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000806777]|not specified [RCV000599700] |
Chr3:123649200 [GRCh38] Chr3:123368047 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.1752A>G (p.Leu584=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648767]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313412]|not specified [RCV001375547] |
Chr3:123722180 [GRCh38] Chr3:123441027 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.3463G>A (p.Val1155Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000558229]|Familial thoracic aortic aneurysm and aortic dissection [RCV003159891]|not provided [RCV001571755] |
Chr3:123692837 [GRCh38] Chr3:123411684 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2291A>G (p.Asp764Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313436]|not provided [RCV002274071] |
Chr3:123707853 [GRCh38] Chr3:123426700 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5695G>A (p.Val1899Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313441] |
Chr3:123614155 [GRCh38] Chr3:123333002 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5673C>T (p.Ala1891=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001410280]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315066] |
Chr3:123614177 [GRCh38] Chr3:123333024 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.562C>A (p.Pro188Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278409] |
Chr3:123738923 [GRCh38] Chr3:123457770 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1955C>T (p.Pro652Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278410] |
Chr3:123708883 [GRCh38] Chr3:123427730 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.758T>C (p.Leu253Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278411] |
Chr3:123735413 [GRCh38] Chr3:123454260 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5264T>C (p.Ile1755Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001860400]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313424]|not provided [RCV001507632] |
Chr3:123620311 [GRCh38] Chr3:123339158 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3652+10C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001429951]|not specified [RCV000600835] |
Chr3:123682214 [GRCh38] Chr3:123401061 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.2627G>A (p.Arg876His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000768026]|Aortic aneurysm, familial thoracic 7 [RCV003224419]|Inborn genetic diseases [RCV002533934] |
Chr3:123700841 [GRCh38] Chr3:123419688 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000555496]|Connective tissue disorder [RCV000659941]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431672]|not provided [RCV001591255] |
Chr3:123700775 [GRCh38] Chr3:123419622 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.5214G>C (p.Lys1738Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000556798] |
Chr3:123626842 [GRCh38] Chr3:123345689 [GRCh37] Chr3:3q21.1 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_053025.4(MYLK):c.5631T>C (p.Asp1877=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000876187]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313456] |
Chr3:123614219 [GRCh38] Chr3:123333066 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3985+20G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001855244]|not specified [RCV000601540] |
Chr3:123664085 [GRCh38] Chr3:123382932 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.1710C>T (p.Ile570=) |
single nucleotide variant |
not specified [RCV000607230] |
Chr3:123722222 [GRCh38] Chr3:123441069 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3526G>A (p.Ala1176Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001055876]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313445]|not provided [RCV001775926] |
Chr3:123692774 [GRCh38] Chr3:123411621 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.345C>T (p.Arg115=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002060673]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313448] |
Chr3:123752359 [GRCh38] Chr3:123471206 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1725G>A (p.Pro575=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002531835]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313422] |
Chr3:123722207 [GRCh38] Chr3:123441054 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2760C>T (p.Ala920=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001504074]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438564]|not specified [RCV000607266] |
Chr3:123700708 [GRCh38] Chr3:123419555 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.3472G>A (p.Glu1158Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002499008]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313451] |
Chr3:123692828 [GRCh38] Chr3:123411675 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3511G>A (p.Val1171Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003300935] |
Chr3:123692789 [GRCh38] Chr3:123411636 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1120C>T (p.Pro374Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313420] |
Chr3:123733876 [GRCh38] Chr3:123452723 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1631G>A (p.Arg544Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001400549]|not specified [RCV000602126] |
Chr3:123725964 [GRCh38] Chr3:123444811 [GRCh37] Chr3:3q21.1 |
likely benign |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_053025.4(MYLK):c.5489G>C (p.Cys1830Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000533705] |
Chr3:123618650 [GRCh38] Chr3:123337497 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3653-10_3653-8del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV000559182]|not provided [RCV001591256]|not specified [RCV001527011] |
Chr3:123667195..123667197 [GRCh38] Chr3:123386042..123386044 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3020C>T (p.Ala1007Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001296555]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313415] |
Chr3:123700448 [GRCh38] Chr3:123419295 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648721]|Aortic aneurysm, familial thoracic 7 [RCV002491329]|Aortic dissection [RCV000735407]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313418]|not provided [RCV000762384] |
Chr3:123707995 [GRCh38] Chr3:123426842 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1605C>T (p.Cys535=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002065365]|not specified [RCV000615221] |
Chr3:123725990 [GRCh38] Chr3:123444837 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2607G>A (p.Val869=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002065426]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431797]|not provided [RCV001697924] |
Chr3:123700861 [GRCh38] Chr3:123419708 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4031G>A (p.Arg1344Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001218825]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313434]|not provided [RCV001756009] |
Chr3:123657383 [GRCh38] Chr3:123376230 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4367C>A (p.Thr1456Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313444] |
Chr3:123649019 [GRCh38] Chr3:123367866 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.569C>T (p.Pro190Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001230782]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313458]|not provided [RCV003328609] |
Chr3:123738916 [GRCh38] Chr3:123457763 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.-126-19C>G |
single nucleotide variant |
not specified [RCV000609812] |
Chr3:123831689 [GRCh38] Chr3:123550536 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1239C>T (p.Phe413=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003160109]|not provided [RCV000880526]|not specified [RCV000612556] |
Chr3:123733757 [GRCh38] Chr3:123452604 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2125G>A (p.Val709Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001087472]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315007]|not provided [RCV000757531] |
Chr3:123708713 [GRCh38] Chr3:123427560 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000540936]|Familial thoracic aortic aneurysm and aortic dissection [RCV002420490]|not provided [RCV001547759]|not specified [RCV001280554] |
Chr3:123733741 [GRCh38] Chr3:123452588 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3052C>T (p.Gln1018Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313435] |
Chr3:123700416 [GRCh38] Chr3:123419263 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001086815]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313439]|not provided [RCV000914206] |
Chr3:123707962 [GRCh38] Chr3:123426809 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.2937G>A (p.Pro979=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002531837]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313438] |
Chr3:123700531 [GRCh38] Chr3:123419378 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3210C>T (p.Asp1070=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000945364]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313432]|not provided [RCV001591388]|not specified [RCV001824845] |
Chr3:123700258 [GRCh38] Chr3:123419105 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2070G>A (p.Thr690=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001498821]|Aortic aneurysm, familial thoracic 7 [RCV002491284]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170130]|not provided [RCV000875506]|not specified [RCV000610075] |
Chr3:123708768 [GRCh38] Chr3:123427615 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.999G>T (p.Pro333=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001144540]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384318]|not specified [RCV000612763] |
Chr3:123733997 [GRCh38] Chr3:123452844 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.2958T>C (p.Gly986=) |
single nucleotide variant |
not specified [RCV000615919] |
Chr3:123700510 [GRCh38] Chr3:123419357 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1309+20G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003117390]|not specified [RCV000616034] |
Chr3:123733667 [GRCh38] Chr3:123452514 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.-127+5T>C |
single nucleotide variant |
not specified [RCV000612838] |
Chr3:123876554 [GRCh38] Chr3:123595401 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3126G>A (p.Lys1042=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002531836]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313427] |
Chr3:123700342 [GRCh38] Chr3:123419189 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5237A>C (p.Gln1746Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313440] |
Chr3:123626819 [GRCh38] Chr3:123345666 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4369G>A (p.Glu1457Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313459] |
Chr3:123649017 [GRCh38] Chr3:123367864 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1330G>A (p.Glu444Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000765704]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313425] |
Chr3:123733082 [GRCh38] Chr3:123451929 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3062G>C (p.Gly1021Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001063694]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313428] |
Chr3:123700406 [GRCh38] Chr3:123419253 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3805T>C (p.Cys1269Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313443] |
Chr3:123666245 [GRCh38] Chr3:123385092 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.290A>C (p.His97Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313433] |
Chr3:123752414 [GRCh38] Chr3:123471261 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2100C>T (p.Ser700=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002420632]|not specified [RCV000616230] |
Chr3:123708738 [GRCh38] Chr3:123427585 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4995C>T (p.Asn1665=) |
single nucleotide variant |
not specified [RCV000602083] |
Chr3:123629593 [GRCh38] Chr3:123348440 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2701C>T (p.Leu901=) |
single nucleotide variant |
not specified [RCV000610453] |
Chr3:123700767 [GRCh38] Chr3:123419614 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2130C>G (p.Leu710=) |
single nucleotide variant |
not specified [RCV000616701] |
Chr3:123708708 [GRCh38] Chr3:123427555 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4289-5C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001369691]|not provided [RCV000585236] |
Chr3:123649199 [GRCh38] Chr3:123368046 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.3449-15A>G |
single nucleotide variant |
not specified [RCV000610844] |
Chr3:123692866 [GRCh38] Chr3:123411713 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1359C>G (p.Pro453=) |
single nucleotide variant |
not specified [RCV000613735] |
Chr3:123733053 [GRCh38] Chr3:123451900 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.312T>C (p.Tyr104=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003302945]|not specified [RCV000611095] |
Chr3:123752392 [GRCh38] Chr3:123471239 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1041G>T (p.Leu347=) |
single nucleotide variant |
not specified [RCV000613954] |
Chr3:123733955 [GRCh38] Chr3:123452802 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.492T>A (p.Ala164=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003162734]|not specified [RCV000614047] |
Chr3:123738993 [GRCh38] Chr3:123457840 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3660G>A (p.Ala1220=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000535227]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456198]|not provided [RCV001562944] |
Chr3:123667180 [GRCh38] Chr3:123386027 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001078665]|not provided [RCV000757535] |
Chr3:123752444 [GRCh38] Chr3:123471291 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.2334C>T (p.Thr778=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278402] |
Chr3:123707810 [GRCh38] Chr3:123426657 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1462A>C (p.Thr488Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278403] |
Chr3:123732950 [GRCh38] Chr3:123451797 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1954C>T (p.Pro652Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278404] |
Chr3:123708884 [GRCh38] Chr3:123427731 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4070A>G (p.Tyr1357Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278407] |
Chr3:123657344 [GRCh38] Chr3:123376191 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2547G>C (p.Leu849=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278417] |
Chr3:123700921 [GRCh38] Chr3:123419768 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3537G>A (p.Ala1179=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002065372]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456373]|not provided [RCV003424181]|not specified [RCV000608921] |
Chr3:123692763 [GRCh38] Chr3:123411610 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3897C>T (p.Ala1299=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000866374]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160088]|not provided [RCV001697546] |
Chr3:123664193 [GRCh38] Chr3:123383040 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.1875C>G (p.Phe625Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003311150] |
Chr3:123709823 [GRCh38] Chr3:123428670 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2521G>A (p.Gly841Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003311151] |
Chr3:123700947 [GRCh38] Chr3:123419794 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1326G>A (p.Lys442=) |
single nucleotide variant |
not specified [RCV000609118] |
Chr3:123733086 [GRCh38] Chr3:123451933 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.755-4C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000540158] |
Chr3:123735420 [GRCh38] Chr3:123454267 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.170G>A (p.Arg57Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003311144] |
Chr3:123752534 [GRCh38] Chr3:123471381 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1625T>C (p.Val542Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003311145] |
Chr3:123725970 [GRCh38] Chr3:123444817 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5675C>G (p.Thr1892Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003311148] |
Chr3:123614175 [GRCh38] Chr3:123333022 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4869C>T (p.Gly1623=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003311149] |
Chr3:123638163 [GRCh38] Chr3:123357010 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1821G>A (p.Arg607=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001435332]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313442] |
Chr3:123709877 [GRCh38] Chr3:123428724 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3868G>A (p.Glu1290Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648736]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313410]|not provided [RCV001566086] |
Chr3:123664222 [GRCh38] Chr3:123383069 [GRCh37] Chr3:3q21.1 |
benign|uncertain significance |
NM_053025.4(MYLK):c.4602C>T (p.Ile1534=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001476813]|Aortic aneurysm, familial thoracic 7 [RCV002491330]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770615]|not provided [RCV001576397] |
Chr3:123647241 [GRCh38] Chr3:123366088 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5115-7C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002063002]|not specified [RCV000602141] |
Chr3:123626948 [GRCh38] Chr3:123345795 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1651+17C>T |
single nucleotide variant |
not specified [RCV000604549] |
Chr3:123725927 [GRCh38] Chr3:123444774 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1221C>A (p.Gly407=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001476864]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313426]|not provided [RCV000999539] |
Chr3:123733775 [GRCh38] Chr3:123452622 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.3844G>A (p.Glu1282Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001369145]|Aortic aneurysm, familial thoracic 7 [RCV002499006]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313431]|not provided [RCV001770553] |
Chr3:123664246 [GRCh38] Chr3:123383093 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4341T>G (p.Val1447=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313437] |
Chr3:123649045 [GRCh38] Chr3:123367892 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3277_3278del (p.Ser1093fs) |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313449] |
Chr3:123700190..123700191 [GRCh38] Chr3:123419037..123419038 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1957G>A (p.Glu653Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648712]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769337]|not provided [RCV001559463] |
Chr3:123708881 [GRCh38] Chr3:123427728 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2739C>T (p.Asp913=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001432675]|not specified [RCV000600148] |
Chr3:123700729 [GRCh38] Chr3:123419576 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5706G>A (p.Met1902Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002531838]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313457] |
Chr3:123614144 [GRCh38] Chr3:123332991 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2860C>T (p.Arg954Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000688485]|Aortic aneurysm, familial thoracic 7 [RCV002483733]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313411] |
Chr3:123700608 [GRCh38] Chr3:123419455 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3076G>A (p.Val1026Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648741]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313414]|not provided [RCV001584442] |
Chr3:123700392 [GRCh38] Chr3:123419239 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.161G>A (p.Gly54Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002499007]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313450]|not provided [RCV001577928] |
Chr3:123793681 [GRCh38] Chr3:123512528 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3696G>A (p.Pro1232=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000886769]|not specified [RCV000600864] |
Chr3:123667144 [GRCh38] Chr3:123385991 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1310-20T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002063986]|not provided [RCV001579596]|not specified [RCV000606095] |
Chr3:123733122 [GRCh38] Chr3:123451969 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.3856G>A (p.Val1286Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648709] |
Chr3:123664234 [GRCh38] Chr3:123383081 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1990C>T (p.Gln664Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648710] |
Chr3:123708848 [GRCh38] Chr3:123427695 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.560G>A (p.Arg187Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648713] |
Chr3:123738925 [GRCh38] Chr3:123457772 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4001dup (p.Ala1335fs) |
duplication |
Aortic aneurysm, familial thoracic 7 [RCV000648714] |
Chr3:123657412..123657413 [GRCh38] Chr3:123376259..123376260 [GRCh37] Chr3:3q21.1 |
pathogenic|likely pathogenic |
NM_053025.4(MYLK):c.1289C>G (p.Thr430Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648715] |
Chr3:123733707 [GRCh38] Chr3:123452554 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.649G>T (p.Val217Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648716]|Familial thoracic aortic aneurysm and aortic dissection [RCV003162958] |
Chr3:123737483 [GRCh38] Chr3:123456330 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4992C>A (p.Asp1664Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648718] |
Chr3:123629596 [GRCh38] Chr3:123348443 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648719]|Aortic aneurysm, familial thoracic 7 [RCV002483870]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798951]|not provided [RCV001508503] |
Chr3:123708778 [GRCh38] Chr3:123427625 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3823C>T (p.Arg1275Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648720] |
Chr3:123666227 [GRCh38] Chr3:123385074 [GRCh37] Chr3:3q21.1 |
pathogenic|uncertain significance |
NM_053025.4(MYLK):c.1254C>G (p.Ser418Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648722]|Aortic aneurysm, familial thoracic 7 [RCV002477437]|Familial thoracic aortic aneurysm and aortic dissection [RCV002422369]|not provided [RCV001569358] |
Chr3:123733742 [GRCh38] Chr3:123452589 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1480G>C (p.Gly494Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648723] |
Chr3:123732932 [GRCh38] Chr3:123451779 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1612C>T (p.Arg538Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648726]|Aortic aneurysm, familial thoracic 7 [RCV002483871]|Familial thoracic aortic aneurysm and aortic dissection [RCV002388119]|not specified [RCV003323656] |
Chr3:123725983 [GRCh38] Chr3:123444830 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5003_5017dup (p.Glu1668_Asn1672dup) |
duplication |
Aortic aneurysm, familial thoracic 7 [RCV000648727] |
Chr3:123629570..123629571 [GRCh38] Chr3:123348417..123348418 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4748A>G (p.His1583Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648728] |
Chr3:123640376 [GRCh38] Chr3:123359223 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3120_3155del (p.1032_1043AETLKPMGNAKP[1]) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV000648729] |
Chr3:123700313..123700348 [GRCh38] Chr3:123419160..123419195 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2838C>G (p.His946Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648730]|Connective tissue disorder [RCV000659942]|Familial thoracic aortic aneurysm and aortic dissection [RCV003162959] |
Chr3:123700630 [GRCh38] Chr3:123419477 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4619+2T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648731] |
Chr3:123647222 [GRCh38] Chr3:123366069 [GRCh37] Chr3:3q21.1 |
likely pathogenic|uncertain significance |
NM_053025.4(MYLK):c.1003A>G (p.Thr335Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648732] |
Chr3:123733993 [GRCh38] Chr3:123452840 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.304G>C (p.Gly102Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648733]|Familial thoracic aortic aneurysm and aortic dissection [RCV002449067]|not provided [RCV001703222] |
Chr3:123752400 [GRCh38] Chr3:123471247 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.169C>T (p.Arg57Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648734]|Aortic aneurysm, familial thoracic 7 [RCV002483872]|Familial thoracic aortic aneurysm and aortic dissection [RCV002397280]|not provided [RCV002274080]|not specified [RCV003155260] |
Chr3:123752535 [GRCh38] Chr3:123471382 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2085C>G (p.Cys695Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648735] |
Chr3:123708753 [GRCh38] Chr3:123427600 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2495G>A (p.Cys832Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648737] |
Chr3:123700973 [GRCh38] Chr3:123419820 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3836A>G (p.Gln1279Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648738]|Aortic aneurysm, familial thoracic 7 [RCV002493030] |
Chr3:123664254 [GRCh38] Chr3:123383101 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.728C>G (p.Ser243Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648739] |
Chr3:123737404 [GRCh38] Chr3:123456251 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648740]|Connective tissue disorder [RCV000680572]|Familial thoracic aortic aneurysm and aortic dissection [RCV002440340]|not provided [RCV003128678] |
Chr3:123700436 [GRCh38] Chr3:123419283 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.3901C>T (p.Arg1301Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648742]|Aortic aneurysm, familial thoracic 7 [RCV002493031]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358855]|not provided [RCV001592806] |
Chr3:123664189 [GRCh38] Chr3:123383036 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2652G>A (p.Glu884=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648744]|Aortic aneurysm, familial thoracic 7 [RCV002493032]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150318] |
Chr3:123700816 [GRCh38] Chr3:123419663 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5562C>T (p.His1854=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001394827]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343335] |
Chr3:123614288 [GRCh38] Chr3:123333135 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2485G>A (p.Glu829Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648749]|Aortic aneurysm, familial thoracic 7 [RCV002499107]|Familial thoracic aortic aneurysm and aortic dissection [RCV002424494]|not specified [RCV003330863] |
Chr3:123700983 [GRCh38] Chr3:123419830 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.225C>T (p.Ser75=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648752] |
Chr3:123752479 [GRCh38] Chr3:123471326 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.963G>A (p.Lys321=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648753]|Aortic aneurysm, familial thoracic 7 [RCV002493033] |
Chr3:123734033 [GRCh38] Chr3:123452880 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2918C>T (p.Pro973Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648754]|Familial thoracic aortic aneurysm and aortic dissection [RCV002440341] |
Chr3:123700550 [GRCh38] Chr3:123419397 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.4289-3del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV000648756]|not provided [RCV000998133] |
Chr3:123649197 [GRCh38] Chr3:123368044 [GRCh37] Chr3:3q21.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1473C>T (p.Asn491=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648757]|Familial thoracic aortic aneurysm and aortic dissection [RCV003162960] |
Chr3:123732939 [GRCh38] Chr3:123451786 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5114+7A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648758]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770610] |
Chr3:123629467 [GRCh38] Chr3:123348314 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.4908G>A (p.Glu1636=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648760] |
Chr3:123638124 [GRCh38] Chr3:123356971 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4920C>T (p.Tyr1640=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001082059]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303058]|not provided [RCV000842288]|not specified [RCV001251305] |
Chr3:123638112 [GRCh38] Chr3:123356959 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1420C>T (p.Leu474=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001464874]|Familial thoracic aortic aneurysm and aortic dissection [RCV002388120] |
Chr3:123732992 [GRCh38] Chr3:123451839 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4131G>A (p.Thr1377=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648764]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150319] |
Chr3:123657283 [GRCh38] Chr3:123376130 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3495A>G (p.Arg1165=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648765]|Familial thoracic aortic aneurysm and aortic dissection [RCV002458119] |
Chr3:123692805 [GRCh38] Chr3:123411652 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.716C>T (p.Ser239Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648768]|Familial thoracic aortic aneurysm and aortic dissection [RCV002369727]|not provided [RCV001569000] |
Chr3:123737416 [GRCh38] Chr3:123456263 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.96C>T (p.Ala32=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648770] |
Chr3:123793746 [GRCh38] Chr3:123512593 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4392C>T (p.Tyr1464=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648771]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303059]|not provided [RCV003117455]|not specified [RCV003323657] |
Chr3:123648994 [GRCh38] Chr3:123367841 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1212C>T (p.Pro404=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000648772] |
Chr3:123733784 [GRCh38] Chr3:123452631 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4674G>A (p.Thr1558=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001423740]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380633]|not specified [RCV000601130] |
Chr3:123640450 [GRCh38] Chr3:123359297 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4915G>A (p.Gly1639Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002060786]|Inborn genetic diseases [RCV002534288]|not provided [RCV000658426] |
Chr3:123638117 [GRCh38] Chr3:123356964 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2326G>A (p.Val776Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001344096]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442379]|not provided [RCV000658972] |
Chr3:123707818 [GRCh38] Chr3:123426665 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000800101]|Aortic aneurysm, familial thoracic 7 [RCV002499137]|Connective tissue disorder [RCV000659946]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352072] |
Chr3:123667145 [GRCh38] Chr3:123385992 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2863T>A (p.Ser955Thr) |
single nucleotide variant |
Connective tissue disorder [RCV000659943] |
Chr3:123700605 [GRCh38] Chr3:123419452 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5435C>T (p.Ser1812Phe) |
single nucleotide variant |
Connective tissue disorder [RCV000659953] |
Chr3:123618704 [GRCh38] Chr3:123337551 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.373+14G>A |
single nucleotide variant |
Connective tissue disorder [RCV000659932] |
Chr3:123752317 [GRCh38] Chr3:123471164 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3652+7A>G |
single nucleotide variant |
Connective tissue disorder [RCV000659945] |
Chr3:123682217 [GRCh38] Chr3:123401064 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5253T>C (p.Ala1751=) |
single nucleotide variant |
not provided [RCV000658969] |
Chr3:123620322 [GRCh38] Chr3:123339169 [GRCh37] Chr3:3q21.1 |
uncertain significance |
GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1 |
copy number loss |
not provided [RCV000682303] |
Chr3:122698091..125036994 [GRCh37] Chr3:3q21.1-21.2 |
uncertain significance |
NM_053025.4(MYLK):c.845A>G (p.Glu282Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000698297]|not provided [RCV002462038] |
Chr3:123734151 [GRCh38] Chr3:123452998 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000698556]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442485]|not provided [RCV001546111] |
Chr3:123734154 [GRCh38] Chr3:123453001 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000864191]|Connective tissue disorder [RCV000680567]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798958] |
Chr3:123640381 [GRCh38] Chr3:123359228 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_053025.4(MYLK):c.4308G>A (p.Glu1436=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003117486]|Connective tissue disorder [RCV000680568]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303102] |
Chr3:123649175 [GRCh38] Chr3:123368022 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1651+14G>A |
single nucleotide variant |
Connective tissue disorder [RCV000680574] |
Chr3:123725930 [GRCh38] Chr3:123444777 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5238+12G>T |
single nucleotide variant |
Connective tissue disorder [RCV000680565] |
Chr3:123626806 [GRCh38] Chr3:123345653 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4268C>T (p.Thr1423Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001861883]|Connective tissue disorder [RCV000680570]|not provided [RCV002051882]|not specified [RCV001174756] |
Chr3:123657146 [GRCh38] Chr3:123375993 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001236066]|Connective tissue disorder [RCV000680577]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769345]|not provided [RCV001771926] |
Chr3:123752475 [GRCh38] Chr3:123471322 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3112A>G (p.Met1038Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000687201]|not provided [RCV001592867] |
Chr3:123700356 [GRCh38] Chr3:123419203 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000701486]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343535]|not provided [RCV001575746]|not specified [RCV003330913] |
Chr3:123620273 [GRCh38] Chr3:123339120 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.4415+1G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000695043] |
Chr3:123648970 [GRCh38] Chr3:123367817 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.4213C>T (p.Arg1405Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000687623]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331332]|not provided [RCV001775955] |
Chr3:123657201 [GRCh38] Chr3:123376048 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2777G>A (p.Arg926His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000688684] |
Chr3:123700691 [GRCh38] Chr3:123419538 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000688896]|Aortic aneurysm, familial thoracic 7 [RCV002493164]|Familial thoracic aortic aneurysm and aortic dissection [RCV002458214]|not provided [RCV001579632]|not specified [RCV001823743] |
Chr3:123682239 [GRCh38] Chr3:123401086 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.468G>A (p.Trp156Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000691818] |
Chr3:123739017 [GRCh38] Chr3:123457864 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5587G>A (p.Gly1863Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000705977] |
Chr3:123614263 [GRCh38] Chr3:123333110 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5041G>T (p.Asp1681Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000694196] |
Chr3:123629547 [GRCh38] Chr3:123348394 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2060C>G (p.Pro687Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000689177]|Familial thoracic aortic aneurysm and aortic dissection [RCV002422486] |
Chr3:123708778 [GRCh38] Chr3:123427625 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NC_000003.12:g.(?_123682204)_(123682330_?)del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV000708258] |
Chr3:123682204..123682330 [GRCh38] Chr3:123401051..123401177 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1123G>A (p.Ala375Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000699844]|Familial thoracic aortic aneurysm and aortic dissection [RCV003163241]|not provided [RCV003133553] |
Chr3:123733873 [GRCh38] Chr3:123452720 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2509G>C (p.Gly837Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000700541] |
Chr3:123700959 [GRCh38] Chr3:123419806 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.49C>T (p.Leu17Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000703836] |
Chr3:123793793 [GRCh38] Chr3:123512640 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000706411]|not provided [RCV001563573] |
Chr3:123614148 [GRCh38] Chr3:123332995 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.3133G>A (p.Glu1045Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000692465]|Aortic aneurysm, familial thoracic 7 [RCV002477561]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325384]|not provided [RCV003156282] |
Chr3:123700335 [GRCh38] Chr3:123419182 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2305G>A (p.Glu769Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000697451] |
Chr3:123707839 [GRCh38] Chr3:123426686 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.4731C>G (p.His1577Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000687401] |
Chr3:123640393 [GRCh38] Chr3:123359240 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1651+1G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000704027] |
Chr3:123725943 [GRCh38] Chr3:123444790 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.208G>A (p.Gly70Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000694950]|Aortic aneurysm, familial thoracic 7 [RCV002485683]|Familial thoracic aortic aneurysm and aortic dissection [RCV002422522]|not provided [RCV001569306] |
Chr3:123752496 [GRCh38] Chr3:123471343 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3832-8G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000692869]|Aortic aneurysm, familial thoracic 7 [RCV003224378]|not provided [RCV001553457] |
Chr3:123664266 [GRCh38] Chr3:123383113 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3433A>G (p.Ile1145Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000690170] |
Chr3:123700035 [GRCh38] Chr3:123418882 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2599G>A (p.Glu867Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000690206]|Familial thoracic aortic aneurysm and aortic dissection [RCV002424614] |
Chr3:123700869 [GRCh38] Chr3:123419716 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1693G>A (p.Val565Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000693227]|not provided [RCV003151805] |
Chr3:123722239 [GRCh38] Chr3:123441086 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2492T>G (p.Leu831Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000693582] |
Chr3:123700976 [GRCh38] Chr3:123419823 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1226G>A (p.Arg409Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000691058] |
Chr3:123733770 [GRCh38] Chr3:123452617 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2165G>A (p.Trp722Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000696245] |
Chr3:123707979 [GRCh38] Chr3:123426826 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2804C>T (p.Pro935Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000700586] |
Chr3:123700664 [GRCh38] Chr3:123419511 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2085C>T (p.Cys695=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000703402] |
Chr3:123708753 [GRCh38] Chr3:123427600 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2741A>G (p.Asp914Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000694445]|Familial thoracic aortic aneurysm and aortic dissection [RCV002440469] |
Chr3:123700727 [GRCh38] Chr3:123419574 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.901C>A (p.Gln301Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000696974] |
Chr3:123734095 [GRCh38] Chr3:123452942 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1684G>A (p.Glu562Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000694561] |
Chr3:123722248 [GRCh38] Chr3:123441095 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.568C>T (p.Pro190Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000692261] |
Chr3:123738917 [GRCh38] Chr3:123457764 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2605G>A (p.Val869Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000806447]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769333] |
Chr3:123700863 [GRCh38] Chr3:123419710 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1775T>C (p.Val592Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002487568]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769338] |
Chr3:123722157 [GRCh38] Chr3:123441004 [GRCh37] Chr3:3q21.1 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_053025.4(MYLK):c.1941A>C (p.Ser647=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001882590]|not provided [RCV001532491] |
Chr3:123709757 [GRCh38] Chr3:123428604 [GRCh37] Chr3:3q21.1 |
uncertain significance |
Single allele |
deletion |
Deafness-lymphedema-leukemia syndrome [RCV001541924] |
Chr3:120247726..128319968 [GRCh37] Chr3:3q13.33-21.3 |
pathogenic |
NM_053025.4(MYLK):c.177C>T (p.Tyr59=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001411396] |
Chr3:123752527 [GRCh38] Chr3:123471374 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4763C>T (p.Pro1588Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000853341]|Inborn genetic diseases [RCV002538875] |
Chr3:123640361 [GRCh38] Chr3:123359208 [GRCh37] Chr3:3q21.1 |
likely pathogenic|uncertain significance |
NM_053025.4(MYLK):c.3063G>A (p.Gly1021=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001458757] |
Chr3:123700405 [GRCh38] Chr3:123419252 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3396G>A (p.Thr1132=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001463002]|Familial thoracic aortic aneurysm and aortic dissection [RCV002454015] |
Chr3:123700072 [GRCh38] Chr3:123418919 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4538T>C (p.Met1513Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002533905]|not provided [RCV000762380] |
Chr3:123647305 [GRCh38] Chr3:123366152 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4058_4060del (p.Tyr1353_Gly1354delinsCys) |
deletion |
not provided [RCV000762381] |
Chr3:123657354..123657356 [GRCh38] Chr3:123376201..123376203 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2069C>T (p.Thr690Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000814496]|Aortic aneurysm, familial thoracic 7 [RCV002493391]|Familial thoracic aortic aneurysm and aortic dissection [RCV003166027]|not provided [RCV000762385] |
Chr3:123708769 [GRCh38] Chr3:123427616 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5514C>T (p.Pro1838=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001085937]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343614]|not provided [RCV000762378] |
Chr3:123614336 [GRCh38] Chr3:123333183 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2740G>T (p.Asp914Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003279046]|not provided [RCV000762383] |
Chr3:123700728 [GRCh38] Chr3:123419575 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-279G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001146581] |
Chr3:123884299 [GRCh38] Chr3:123603146 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4154G>A (p.Arg1385His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002477738]|Familial thoracic aortic aneurysm and aortic dissection [RCV003166007]|not provided [RCV000756398] |
Chr3:123657260 [GRCh38] Chr3:123376107 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3281A>T (p.Gln1094Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002501914]|Aortic aneurysm, familial thoracic 7 [RCV002570768]|Familial thoracic aortic aneurysm and aortic dissection [RCV002324146]|not provided [RCV001568129] |
Chr3:123700187 [GRCh38] Chr3:123419034 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2760C>G (p.Ala920=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001149004] |
Chr3:123700708 [GRCh38] Chr3:123419555 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.616C>T (p.Arg206Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002359192]|MYLK-related condition [RCV003416400]|not provided [RCV001583053] |
Chr3:123737516 [GRCh38] Chr3:123456363 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3066C>T (p.Pro1022=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001503590]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169127]|not provided [RCV000866241] |
Chr3:123700402 [GRCh38] Chr3:123419249 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1516+9A>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002541539] |
Chr3:123732887 [GRCh38] Chr3:123451734 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.609G>A (p.Pro203=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000948657]|not provided [RCV003117649] |
Chr3:123737523 [GRCh38] Chr3:123456370 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1804+8C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000982113] |
Chr3:123722120 [GRCh38] Chr3:123440967 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2355G>A (p.Gln785=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001500008] |
Chr3:123707789 [GRCh38] Chr3:123426636 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4686C>T (p.Cys1562=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001471080] |
Chr3:123640438 [GRCh38] Chr3:123359285 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5067C>T (p.Ser1689=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001089372]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345978]|not provided [RCV000866860] |
Chr3:123629521 [GRCh38] Chr3:123348368 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5547C>T (p.Ile1849=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002539006] |
Chr3:123614303 [GRCh38] Chr3:123333150 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3138C>T (p.Thr1046=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001427897]|not provided [RCV000975502] |
Chr3:123700330 [GRCh38] Chr3:123419177 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.570G>A (p.Pro190=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001401457]|Familial thoracic aortic aneurysm and aortic dissection [RCV002346176] |
Chr3:123738915 [GRCh38] Chr3:123457762 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1542C>G (p.Pro514=) |
single nucleotide variant |
not provided [RCV000901263] |
Chr3:123726053 [GRCh38] Chr3:123444900 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5709G>A (p.Glu1903=) |
single nucleotide variant |
not provided [RCV000926352] |
Chr3:123614141 [GRCh38] Chr3:123332988 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.374-4G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001421644] |
Chr3:123740005 [GRCh38] Chr3:123458852 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.834A>G (p.Val278=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001422533] |
Chr3:123734162 [GRCh38] Chr3:123453009 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5115-6T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001401441] |
Chr3:123626947 [GRCh38] Chr3:123345794 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4818T>C (p.Phe1606=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001426148]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336990]|not provided [RCV000944523] |
Chr3:123640306 [GRCh38] Chr3:123359153 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2733G>A (p.Ser911=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001149005]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307591]|not provided [RCV000863583] |
Chr3:123700735 [GRCh38] Chr3:123419582 [GRCh37] Chr3:3q21.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.5667A>G (p.Gly1889=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001454738] |
Chr3:123614183 [GRCh38] Chr3:123333030 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3565+8G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000960388] |
Chr3:123692727 [GRCh38] Chr3:123411574 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.933C>T (p.Asn311=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001434877] |
Chr3:123734063 [GRCh38] Chr3:123452910 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2364T>C (p.His788=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000867392]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442831]|not provided [RCV001813806] |
Chr3:123707780 [GRCh38] Chr3:123426627 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1A>G (p.Met1Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001058087]|not provided [RCV002223977] |
Chr3:123793841 [GRCh38] Chr3:123512688 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5541_5544del (p.Ile1849fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001055135] |
Chr3:123614306..123614309 [GRCh38] Chr3:123333153..123333156 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1472A>G (p.Asn491Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001035412]|Familial thoracic aortic aneurysm and aortic dissection [RCV002391092]|not specified [RCV001553595] |
Chr3:123732940 [GRCh38] Chr3:123451787 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3528T>C (p.Ala1176=) |
single nucleotide variant |
not specified [RCV001280586] |
Chr3:123692772 [GRCh38] Chr3:123411619 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1873T>C (p.Phe625Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001060005] |
Chr3:123709825 [GRCh38] Chr3:123428672 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.373+6T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001039682]|not provided [RCV001563248] |
Chr3:123752325 [GRCh38] Chr3:123471172 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.1689C>T (p.Ala563=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000869831]|Familial thoracic aortic aneurysm and aortic dissection [RCV002409073]|not specified [RCV002271592] |
Chr3:123722243 [GRCh38] Chr3:123441090 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2854G>A (p.Asp952Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001038631]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434442] |
Chr3:123700614 [GRCh38] Chr3:123419461 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5132C>G (p.Thr1711Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000768025]|Aortic aneurysm, familial thoracic 7 [RCV003224418]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343617] |
Chr3:123626924 [GRCh38] Chr3:123345771 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5510A>C (p.Asp1837Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000770609] |
Chr3:123614340 [GRCh38] Chr3:123333187 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001869071]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770618]|not provided [RCV003117553]|not specified [RCV003323713] |
Chr3:123657230 [GRCh38] Chr3:123376077 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.729G>A (p.Ser243=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002067446]|not provided [RCV000827349] |
Chr3:123737403 [GRCh38] Chr3:123456250 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5529C>A (p.Phe1843Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000770608] |
Chr3:123614321 [GRCh38] Chr3:123333168 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3903C>A (p.Arg1301=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001405519]|Familial thoracic aortic aneurysm and aortic dissection [RCV002354737] |
Chr3:123664187 [GRCh38] Chr3:123383034 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3657T>C (p.Asp1219=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001423438] |
Chr3:123667183 [GRCh38] Chr3:123386030 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4845G>A (p.Ala1615=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001440409]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336940] |
Chr3:123638187 [GRCh38] Chr3:123357034 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.156C>T (p.Phe52=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000865999] |
Chr3:123793686 [GRCh38] Chr3:123512533 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3132C>T (p.Ala1044=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000863016]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170121]|not provided [RCV001560597] |
Chr3:123700336 [GRCh38] Chr3:123419183 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2751G>A (p.Glu917=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001416528]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169141] |
Chr3:123700717 [GRCh38] Chr3:123419564 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5501-7G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001428797] |
Chr3:123614356 [GRCh38] Chr3:123333203 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1954C>G (p.Pro652Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001481772]|not provided [RCV000869078]|not specified [RCV001255495] |
Chr3:123708884 [GRCh38] Chr3:123427731 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.4791G>A (p.Thr1597=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000870438]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336821] |
Chr3:123640333 [GRCh38] Chr3:123359180 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3449-9C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002539250] |
Chr3:123692860 [GRCh38] Chr3:123411707 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2175T>C (p.Ser725=) |
single nucleotide variant |
not provided [RCV000941928] |
Chr3:123707969 [GRCh38] Chr3:123426816 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3703+8G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001498509] |
Chr3:123667129 [GRCh38] Chr3:123385976 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1839G>T (p.Leu613=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000865568]|Aortic aneurysm, familial thoracic 7 [RCV002495250]|Familial thoracic aortic aneurysm and aortic dissection [RCV002409035] |
Chr3:123709859 [GRCh38] Chr3:123428706 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1629C>T (p.Pro543=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001418019] |
Chr3:123725966 [GRCh38] Chr3:123444813 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.681C>T (p.Asp227=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001492570]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363278] |
Chr3:123737451 [GRCh38] Chr3:123456298 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2853C>T (p.Val951=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001415792]|not provided [RCV000941094] |
Chr3:123700615 [GRCh38] Chr3:123419462 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5616T>G (p.Val1872=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000862480] |
Chr3:123614234 [GRCh38] Chr3:123333081 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2325C>T (p.Asp775=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001392602]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444971] |
Chr3:123707819 [GRCh38] Chr3:123426666 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2811T>C (p.Thr937=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001505028] |
Chr3:123700657 [GRCh38] Chr3:123419504 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5238+6G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001446488]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170112]|not provided [RCV000865600]|not specified [RCV001527010] |
Chr3:123626812 [GRCh38] Chr3:123345659 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.1878G>A (p.Leu626=) |
single nucleotide variant |
not provided [RCV000862618] |
Chr3:123709820 [GRCh38] Chr3:123428667 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5280T>G (p.Ser1760=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001451947]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345989] |
Chr3:123620295 [GRCh38] Chr3:123339142 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1517-7C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000926006] |
Chr3:123726085 [GRCh38] Chr3:123444932 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2889C>T (p.Ser963=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001464008] |
Chr3:123700579 [GRCh38] Chr3:123419426 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2407T>C (p.Cys803Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000769334] |
Chr3:123701493 [GRCh38] Chr3:123420340 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1673G>A (p.Arg558His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001036006]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769339] |
Chr3:123722259 [GRCh38] Chr3:123441106 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4746G>A (p.Val1582=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000770613] |
Chr3:123640378 [GRCh38] Chr3:123359225 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4960C>T (p.Leu1654=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003311146] |
Chr3:123638072 [GRCh38] Chr3:123356919 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.1885C>T (p.Leu629Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003311152] |
Chr3:123709813 [GRCh38] Chr3:123428660 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.243G>A (p.Leu81=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000812795]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307515]|not provided [RCV001811500] |
Chr3:123752461 [GRCh38] Chr3:123471308 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.5446C>T (p.Arg1816Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000817305]|Aortic aneurysm, familial thoracic 7 [RCV002478905]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345874] |
Chr3:123618693 [GRCh38] Chr3:123337540 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.147C>T (p.Thr49=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002064646] |
Chr3:123793695 [GRCh38] Chr3:123512542 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.423-8C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000820025] |
Chr3:123739070 [GRCh38] Chr3:123457917 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.4471G>T (p.Ala1491Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000855690] |
Chr3:123647372 [GRCh38] Chr3:123366219 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.2732C>T (p.Ser911Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000871272]|Inborn genetic diseases [RCV002539961] |
Chr3:123700736 [GRCh38] Chr3:123419583 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2885C>G (p.Thr962Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000797912] |
Chr3:123700583 [GRCh38] Chr3:123419430 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.710A>G (p.Asn237Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000802893] |
Chr3:123737422 [GRCh38] Chr3:123456269 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.849G>A (p.Ser283=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001505746]|not provided [RCV000842316] |
Chr3:123734147 [GRCh38] Chr3:123452994 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3863A>G (p.Asn1288Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000815079]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363123] |
Chr3:123664227 [GRCh38] Chr3:123383074 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2911G>A (p.Val971Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000816341] |
Chr3:123700557 [GRCh38] Chr3:123419404 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4567C>A (p.Gln1523Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000805118] |
Chr3:123647276 [GRCh38] Chr3:123366123 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000818233]|Aortic aneurysm, familial thoracic 7 [RCV002495165]|Familial thoracic aortic aneurysm and aortic dissection [RCV002433998] |
Chr3:123700707 [GRCh38] Chr3:123419554 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1865C>G (p.Ala622Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000821823]|Familial thoracic aortic aneurysm and aortic dissection [RCV002408986] |
Chr3:123709833 [GRCh38] Chr3:123428680 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3577A>C (p.Ser1193Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000807639]|Aortic aneurysm, familial thoracic 7 [RCV002501091]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453814]|not provided [RCV001551778] |
Chr3:123682299 [GRCh38] Chr3:123401146 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2571G>T (p.Gly857=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000818434] |
Chr3:123700897 [GRCh38] Chr3:123419744 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.4603G>A (p.Val1535Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000795827]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334481] |
Chr3:123647240 [GRCh38] Chr3:123366087 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1481G>C (p.Gly494Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000807982]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390617]|not provided [RCV001811497] |
Chr3:123732931 [GRCh38] Chr3:123451778 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.848C>T (p.Ser283Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000798920]|Aortic aneurysm, familial thoracic 7 [RCV002495060]|Familial thoracic aortic aneurysm and aortic dissection [RCV003344055] |
Chr3:123734148 [GRCh38] Chr3:123452995 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.3565+3_3565+6del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV000806785] |
Chr3:123692729..123692732 [GRCh38] Chr3:123411576..123411579 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3448+13G>A |
single nucleotide variant |
not provided [RCV000831173] |
Chr3:123700007 [GRCh38] Chr3:123418854 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5070C>T (p.Asp1690=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002538250]|not provided [RCV000827036] |
Chr3:123629518 [GRCh38] Chr3:123348365 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.506G>A (p.Arg169Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000811855]|not provided [RCV001776025] |
Chr3:123738979 [GRCh38] Chr3:123457826 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3096_3131dup (p.1032_1043AETLKPMGNAKP[3]) |
duplication |
Aortic aneurysm, familial thoracic 7 [RCV000815430]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325604] |
Chr3:123700336..123700337 [GRCh38] Chr3:123419183..123419184 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3507G>A (p.Lys1169=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002067481]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169065]|not provided [RCV000828345] |
Chr3:123692793 [GRCh38] Chr3:123411640 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3315A>G (p.Gln1105=) |
single nucleotide variant |
not provided [RCV000998135] |
Chr3:123700153 [GRCh38] Chr3:123419000 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4289-4C>A |
single nucleotide variant |
not provided [RCV000841603] |
Chr3:123649198 [GRCh38] Chr3:123368045 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5649G>A (p.Lys1883=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001444030]|Familial thoracic aortic aneurysm and aortic dissection [RCV003344087]|not provided [RCV000842157] |
Chr3:123614201 [GRCh38] Chr3:123333048 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4460G>A (p.Arg1487Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000823879] |
Chr3:123647383 [GRCh38] Chr3:123366230 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1509A>G (p.Gln503=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000821332]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798985] |
Chr3:123732903 [GRCh38] Chr3:123451750 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.*334C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001148762]|Aortic aneurysm, familial thoracic 7 [RCV002483876] |
Chr3:123613771 [GRCh38] Chr3:123332618 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1009G>C (p.Val337Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000809493]|Familial thoracic aortic aneurysm and aortic dissection [RCV002440740] |
Chr3:123733987 [GRCh38] Chr3:123452834 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3350T>C (p.Leu1117Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000809528] |
Chr3:123700118 [GRCh38] Chr3:123418965 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2899G>A (p.Val967Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001146203]|Aortic aneurysm, familial thoracic 7 [RCV002482279]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380853]|not provided [RCV003325544]|not specified [RCV003331052] |
Chr3:123700569 [GRCh38] Chr3:123419416 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1672C>T (p.Arg558Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001146328]|Inborn genetic diseases [RCV003353176] |
Chr3:123722260 [GRCh38] Chr3:123441107 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1480G>A (p.Gly494Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001149128]|Aortic aneurysm, familial thoracic 7 [RCV002497569]|not provided [RCV001586008] |
Chr3:123732932 [GRCh38] Chr3:123451779 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.263C>G (p.Thr88Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000809937]|Aortic aneurysm, familial thoracic 7 [RCV002495115]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150351] |
Chr3:123752441 [GRCh38] Chr3:123471288 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5382A>C (p.Gln1794His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000810757] |
Chr3:123618757 [GRCh38] Chr3:123337604 [GRCh37] Chr3:3q21.1 |
uncertain significance |
GRCh37/hg19 3q21.1(chr3:123091866-123464992)x3 |
copy number gain |
not provided [RCV000845863] |
Chr3:123091866..123464992 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.372A>C (p.Glu124Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000810397] |
Chr3:123752332 [GRCh38] Chr3:123471179 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4404G>A (p.Glu1468=) |
single nucleotide variant |
not provided [RCV000830804] |
Chr3:123648982 [GRCh38] Chr3:123367829 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.*389G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001148761] |
Chr3:123613716 [GRCh38] Chr3:123332563 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1798G>A (p.Val600Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001146327]|not provided [RCV001776121]|not specified [RCV001251292] |
Chr3:123722134 [GRCh38] Chr3:123440981 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3715del (p.Gln1239fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001065860] |
Chr3:123666335 [GRCh38] Chr3:123385182 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.686G>A (p.Gly229Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000792967] |
Chr3:123737446 [GRCh38] Chr3:123456293 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5567A>G (p.Gln1856Arg) |
single nucleotide variant |
not provided [RCV003314958] |
Chr3:123614283 [GRCh38] Chr3:123333130 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3172A>T (p.Asn1058Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000812179]|Aortic aneurysm, familial thoracic 7 [RCV002478887]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325586]|not provided [RCV002067397] |
Chr3:123700296 [GRCh38] Chr3:123419143 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.429A>G (p.Arg143=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000863260]|Familial thoracic aortic aneurysm and aortic dissection [RCV002332773]|not provided [RCV001811514] |
Chr3:123739056 [GRCh38] Chr3:123457903 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1698T>C (p.Ala566=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002067488]|not provided [RCV000828729] |
Chr3:123722234 [GRCh38] Chr3:123441081 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5727GGAAGA[3] (p.Glu1913_Glu1914dup) |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV000818530] |
Chr3:123614111..123614112 [GRCh38] Chr3:123332958..123332959 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.774-3C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000797413] |
Chr3:123734225 [GRCh38] Chr3:123453072 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2403C>T (p.Gly801=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000819117]|Aortic aneurysm, familial thoracic 7 [RCV002487821]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453873] |
Chr3:123701497 [GRCh38] Chr3:123420344 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.1690G>A (p.Gly564Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000822735]|Familial thoracic aortic aneurysm and aortic dissection [RCV003483743]|not specified [RCV001585762] |
Chr3:123722242 [GRCh38] Chr3:123441089 [GRCh37] Chr3:3q21.1 |
uncertain significance|not provided |
NM_053025.4(MYLK):c.4208G>A (p.Arg1403His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000794517] |
Chr3:123657206 [GRCh38] Chr3:123376053 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5736A>G (p.Glu1912=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000869820] |
Chr3:123614114 [GRCh38] Chr3:123332961 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4997A>G (p.Asp1666Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000803767]|Aortic aneurysm, familial thoracic 7 [RCV002507391]|not provided [RCV001759535] |
Chr3:123629591 [GRCh38] Chr3:123348438 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5501-20G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002068596]|not provided [RCV000841635]|not specified [RCV001193597] |
Chr3:123614369 [GRCh38] Chr3:123333216 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.69A>T (p.Arg23Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001419212]|Familial thoracic aortic aneurysm and aortic dissection [RCV002372398] |
Chr3:123793773 [GRCh38] Chr3:123512620 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.369A>T (p.Val123=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001087436]|not provided [RCV000842546] |
Chr3:123752335 [GRCh38] Chr3:123471182 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4030C>T (p.Arg1344Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000824129]|Aortic aneurysm, familial thoracic 7 [RCV002501149]|not provided [RCV001759623] |
Chr3:123657384 [GRCh38] Chr3:123376231 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001467051]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170127]|not provided [RCV001823183]|not specified [RCV001269096] |
Chr3:123707917 [GRCh38] Chr3:123426764 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.2415C>G (p.Cys805Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001068068]|Aortic aneurysm, familial thoracic 7 [RCV002480428]|Familial thoracic aortic aneurysm and aortic dissection [RCV002445351]|not provided [RCV001759842] |
Chr3:123701485 [GRCh38] Chr3:123420332 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1023T>G (p.Thr341=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001150631]|Familial thoracic aortic aneurysm and aortic dissection [RCV003293905] |
Chr3:123733973 [GRCh38] Chr3:123452820 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.-214C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001146577] |
Chr3:123884234 [GRCh38] Chr3:123603081 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-236C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001146579]|Aortic aneurysm, familial thoracic 7 [RCV002483873] |
Chr3:123884256 [GRCh38] Chr3:123603103 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2391-6C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001499300] |
Chr3:123701515 [GRCh38] Chr3:123420362 [GRCh37] Chr3:3q21.1 |
likely benign |
GRCh37/hg19 3q21.1(chr3:123455170-123487068)x1 |
copy number loss |
not provided [RCV000849887] |
Chr3:123455170..123487068 [GRCh37] Chr3:3q21.1 |
uncertain significance |
GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3 |
copy number gain |
not provided [RCV000848663] |
Chr3:121384741..123672180 [GRCh37] Chr3:3q13.33-21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1159C>A (p.Pro387Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001230744] |
Chr3:123733837 [GRCh38] Chr3:123452684 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3985+3G>A |
single nucleotide variant |
not specified [RCV001175606] |
Chr3:123664102 [GRCh38] Chr3:123382949 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2440A>G (p.Ser814Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001202764] |
Chr3:123701460 [GRCh38] Chr3:123420307 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3726G>C (p.Gln1242His) |
single nucleotide variant |
not specified [RCV001174757] |
Chr3:123666324 [GRCh38] Chr3:123385171 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053031.4(MYLK):c.89-2_89del |
microsatellite |
not specified [RCV001174834] |
Chr3:123618767..123618769 [GRCh38] Chr3:123337614..123337616 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2114G>A (p.Arg705His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001065015]|Aortic aneurysm, familial thoracic 7 [RCV002497459]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418535]|not provided [RCV002473189] |
Chr3:123708724 [GRCh38] Chr3:123427571 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3131_3166del (p.1032AETLKPMGNAKP[1]) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001216882]|Aortic aneurysm, familial thoracic 7 [RCV002484178] |
Chr3:123700302..123700337 [GRCh38] Chr3:123419149..123419184 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3867C>T (p.Ser1289=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001305155]|Familial thoracic aortic aneurysm and aortic dissection [RCV002365898]|not specified [RCV001199856] |
Chr3:123664223 [GRCh38] Chr3:123383070 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.3247G>A (p.Gly1083Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001226849] |
Chr3:123700221 [GRCh38] Chr3:123419068 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3682C>G (p.Pro1228Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001220651]|Aortic aneurysm, familial thoracic 7 [RCV002484200] |
Chr3:123667158 [GRCh38] Chr3:123386005 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1566C>A (p.Asp522Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001237682]|Familial thoracic aortic aneurysm and aortic dissection [RCV003166476] |
Chr3:123726029 [GRCh38] Chr3:123444876 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3933G>A (p.Leu1311=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001241190] |
Chr3:123664157 [GRCh38] Chr3:123383004 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4301A>G (p.Glu1434Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001224955] |
Chr3:123649182 [GRCh38] Chr3:123368029 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4406G>A (p.Arg1469Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001225143]|Aortic aneurysm, familial thoracic 7 [RCV002484221]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327534] |
Chr3:123648980 [GRCh38] Chr3:123367827 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1979G>A (p.Gly660Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001209895] |
Chr3:123708859 [GRCh38] Chr3:123427706 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1585C>G (p.Gln529Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001238493] |
Chr3:123726010 [GRCh38] Chr3:123444857 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2462G>A (p.Arg821Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001241756]|Familial thoracic aortic aneurysm and aortic dissection [RCV002447202]|not provided [RCV001751479] |
Chr3:123701438 [GRCh38] Chr3:123420285 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3874G>C (p.Gly1292Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001196705] |
Chr3:123664216 [GRCh38] Chr3:123383063 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.739del (p.Glu247fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001232993] |
Chr3:123737393 [GRCh38] Chr3:123456240 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.835A>G (p.Ile279Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001205654] |
Chr3:123734161 [GRCh38] Chr3:123453008 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.706G>A (p.Val236Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001146465]|Familial thoracic aortic aneurysm and aortic dissection [RCV003293902] |
Chr3:123737426 [GRCh38] Chr3:123456273 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.250G>A (p.Gly84Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001299861]|Aortic aneurysm, familial thoracic 7 [RCV002491484]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170680]|not provided [RCV001563139]|not specified [RCV002298878] |
Chr3:123752454 [GRCh38] Chr3:123471301 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1509A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001144077] |
Chr3:123612596 [GRCh38] Chr3:123331443 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3295G>A (p.Ala1099Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003106276] |
Chr3:123700173 [GRCh38] Chr3:123419020 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2365G>A (p.Ala789Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003104710] |
Chr3:123707779 [GRCh38] Chr3:123426626 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.770A>G (p.Asn257Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003104621] |
Chr3:123735401 [GRCh38] Chr3:123454248 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5628C>T (p.Asp1876=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003104610]|Familial thoracic aortic aneurysm and aortic dissection [RCV003341530] |
Chr3:123614222 [GRCh38] Chr3:123333069 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2140+15C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002070445]|not specified [RCV001582382] |
Chr3:123708683 [GRCh38] Chr3:123427530 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.5697G>A (p.Val1899=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002343770]|not specified [RCV001582406] |
Chr3:123614153 [GRCh38] Chr3:123333000 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.661C>T (p.His221Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001882730]|Aortic aneurysm, familial thoracic 7 [RCV002495954]|Familial thoracic aortic aneurysm and aortic dissection [RCV002370241]|not provided [RCV001590093] |
Chr3:123737471 [GRCh38] Chr3:123456318 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4333C>T (p.Pro1445Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001873778]|not provided [RCV001532489] |
Chr3:123649053 [GRCh38] Chr3:123367900 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2304C>T (p.Phe768=) |
single nucleotide variant |
not provided [RCV001532490] |
Chr3:123707840 [GRCh38] Chr3:123426687 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3021A>C (p.Ala1007=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001418028] |
Chr3:123700447 [GRCh38] Chr3:123419294 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4289-10C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001471091] |
Chr3:123649204 [GRCh38] Chr3:123368051 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.509T>C (p.Val170Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000862846] |
Chr3:123738976 [GRCh38] Chr3:123457823 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3705A>C (p.Ala1235=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001150400] |
Chr3:123666345 [GRCh38] Chr3:123385192 [GRCh37] Chr3:3q21.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.4956C>T (p.Tyr1652=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001491916] |
Chr3:123638076 [GRCh38] Chr3:123356923 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.374-6T>C |
single nucleotide variant |
not provided [RCV000915225] |
Chr3:123740007 [GRCh38] Chr3:123458854 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4289-5C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001480965] |
Chr3:123649199 [GRCh38] Chr3:123368046 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4416-8A>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001415198]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798992] |
Chr3:123647435 [GRCh38] Chr3:123366282 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.983C>T (p.Ser328Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001244239]|Familial thoracic aortic aneurysm and aortic dissection [RCV002379935] |
Chr3:123734013 [GRCh38] Chr3:123452860 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1062G>A (p.Pro354=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002072319]|Familial thoracic aortic aneurysm and aortic dissection [RCV002414281]|not provided [RCV001582142] |
Chr3:123733934 [GRCh38] Chr3:123452781 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1942+6T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170668] |
Chr3:123709750 [GRCh38] Chr3:123428597 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1528A>T (p.Met510Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170669] |
Chr3:123726067 [GRCh38] Chr3:123444914 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.536G>A (p.Arg179Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001207705] |
Chr3:123738949 [GRCh38] Chr3:123457796 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1040G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001145976] |
Chr3:123613065 [GRCh38] Chr3:123331912 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-229C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001146578]|Aortic aneurysm, familial thoracic 7 [RCV002482283] |
Chr3:123884249 [GRCh38] Chr3:123603096 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5741A>G (p.Glu1914Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001243462] |
Chr3:123614109 [GRCh38] Chr3:123332956 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4715G>C (p.Gly1572Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001205612] |
Chr3:123640409 [GRCh38] Chr3:123359256 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2188G>C (p.Val730Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001205625] |
Chr3:123707956 [GRCh38] Chr3:123426803 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.985C>G (p.Pro329Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001208715] |
Chr3:123734011 [GRCh38] Chr3:123452858 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3395C>T (p.Thr1132Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001243620]|Aortic aneurysm, familial thoracic 7 [RCV002504347] |
Chr3:123700073 [GRCh38] Chr3:123418920 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2670G>A (p.Gln890=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001427981]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170123] |
Chr3:123700798 [GRCh38] Chr3:123419645 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2079C>T (p.Tyr693=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170129] |
Chr3:123708759 [GRCh38] Chr3:123427606 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.15G>T (p.Lys5Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001237981]|not provided [RCV001751470] |
Chr3:123793827 [GRCh38] Chr3:123512674 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2500G>A (p.Gly834Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001243836]|Aortic aneurysm, familial thoracic 7 [RCV002484349] |
Chr3:123700968 [GRCh38] Chr3:123419815 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1103G>A (p.Gly368Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001241656]|not provided [RCV001751476] |
Chr3:123733893 [GRCh38] Chr3:123452740 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3608C>T (p.Ser1203Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001144309]|Aortic aneurysm, familial thoracic 7 [RCV002480533] |
Chr3:123682268 [GRCh38] Chr3:123401115 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1997C>T (p.Ser666Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001210316]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418711] |
Chr3:123708841 [GRCh38] Chr3:123427688 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1032C>T (p.Ser344=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001467164] |
Chr3:123733964 [GRCh38] Chr3:123452811 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3372C>T (p.Asp1124=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001144310]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169374] |
Chr3:123700096 [GRCh38] Chr3:123418943 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1652-4A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000913848] |
Chr3:123722284 [GRCh38] Chr3:123441131 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4269G>A (p.Thr1423=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV000936046]|Familial thoracic aortic aneurysm and aortic dissection [RCV002332917] |
Chr3:123657145 [GRCh38] Chr3:123375992 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4263C>T (p.Leu1421=) |
single nucleotide variant |
not provided [RCV001577238] |
Chr3:123657151 [GRCh38] Chr3:123375998 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4709C>T (p.Ser1570Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003161098]|not provided [RCV001562066] |
Chr3:123640415 [GRCh38] Chr3:123359262 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5620G>A (p.Gly1874Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002570712]|Familial thoracic aortic aneurysm and aortic dissection [RCV003346614]|not provided [RCV001556970]|not specified [RCV001806239] |
Chr3:123614230 [GRCh38] Chr3:123333077 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.146C>T (p.Thr49Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003298934]|not provided [RCV001574893] |
Chr3:123793696 [GRCh38] Chr3:123512543 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.673C>A (p.Gln225Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002032630]|Familial thoracic aortic aneurysm and aortic dissection [RCV002370201]|not provided [RCV001558751] |
Chr3:123737459 [GRCh38] Chr3:123456306 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2086G>A (p.Glu696Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001563599]|Familial thoracic aortic aneurysm and aortic dissection [RCV002421200] |
Chr3:123708752 [GRCh38] Chr3:123427599 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.163C>T (p.Arg55Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002568346]|not provided [RCV001553396] |
Chr3:123793679 [GRCh38] Chr3:123512526 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4289-4_4289-3insA |
insertion |
not provided [RCV001576450] |
Chr3:123649197..123649198 [GRCh38] Chr3:123368044..123368045 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.728C>T (p.Ser243Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001065428]|Aortic aneurysm, familial thoracic 7 [RCV002505643]|Familial thoracic aortic aneurysm and aortic dissection [RCV003283950] |
Chr3:123737404 [GRCh38] Chr3:123456251 [GRCh37] Chr3:3q21.1 |
uncertain significance |
GRCh37/hg19 3q21.1(chr3:122981355-123768908)x1 |
copy number loss |
not provided [RCV001005466] |
Chr3:122981355..123768908 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4625C>T (p.Ser1542Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002539750]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329715]|not provided [RCV001723411] |
Chr3:123640499 [GRCh38] Chr3:123359346 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1259C>G (p.Pro420Arg) |
single nucleotide variant |
not provided [RCV000999538] |
Chr3:123733737 [GRCh38] Chr3:123452584 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4105G>A (p.Glu1369Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002497601]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170115] |
Chr3:123657309 [GRCh38] Chr3:123376156 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2338G>C (p.Val780Leu) |
single nucleotide variant |
not specified [RCV001194234] |
Chr3:123707806 [GRCh38] Chr3:123426653 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1392T>C (p.Tyr464=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001487900]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170670] |
Chr3:123733020 [GRCh38] Chr3:123451867 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1315G>A (p.Gly439Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002558786]|not specified [RCV001175605] |
Chr3:123733097 [GRCh38] Chr3:123451944 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1360G>A (p.Val454Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002480584]|Aortic aneurysm, familial thoracic 7 [RCV002559636]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170671] |
Chr3:123733052 [GRCh38] Chr3:123451899 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.523G>A (p.Gly175Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170676] |
Chr3:123738962 [GRCh38] Chr3:123457809 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4896G>C (p.Val1632=) |
single nucleotide variant |
not provided [RCV001172153] |
Chr3:123638136 [GRCh38] Chr3:123356983 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5675C>T (p.Thr1892Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001068958]|Aortic aneurysm, familial thoracic 7 [RCV002480434] |
Chr3:123614175 [GRCh38] Chr3:123333022 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.249C>T (p.Cys83=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002071907]|Familial thoracic aortic aneurysm and aortic dissection [RCV002424969]|not provided [RCV001532492] |
Chr3:123752455 [GRCh38] Chr3:123471302 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1651+23C>G |
single nucleotide variant |
not specified [RCV001703000] |
Chr3:123725921 [GRCh38] Chr3:123444768 [GRCh37] Chr3:3q21.1 |
benign |
NC_000003.12:g.(?_123682214)_(123682320_?)del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001033055] |
Chr3:123401061..123401167 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2093G>T (p.Trp698Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001069216] |
Chr3:123708745 [GRCh38] Chr3:123427592 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.998C>T (p.Pro333Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001049729]|Familial thoracic aortic aneurysm and aortic dissection [RCV002379541]|not provided [RCV003232192] |
Chr3:123733998 [GRCh38] Chr3:123452845 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.1853G>A (p.Ser618Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001069455] |
Chr3:123709845 [GRCh38] Chr3:123428692 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3316G>C (p.Asp1106His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001050023] |
Chr3:123700152 [GRCh38] Chr3:123418999 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1309+26G>A |
single nucleotide variant |
not specified [RCV001703381] |
Chr3:123733661 [GRCh38] Chr3:123452508 [GRCh37] Chr3:3q21.1 |
benign |
NM_053025.4(MYLK):c.4352C>T (p.Thr1451Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001070214]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327364] |
Chr3:123649034 [GRCh38] Chr3:123367881 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3566A>G (p.Asp1189Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001046544]|not provided [RCV001776102] |
Chr3:123682310 [GRCh38] Chr3:123401157 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-75A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001144640] |
Chr3:123831619 [GRCh38] Chr3:123550466 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2368G>A (p.Gly790Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001207436]|Aortic aneurysm, familial thoracic 7 [RCV002504242]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451444] |
Chr3:123707776 [GRCh38] Chr3:123426623 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5044G>A (p.Asp1682Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001042107]|Aortic aneurysm, familial thoracic 7 [RCV002479268]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307824] |
Chr3:123629544 [GRCh38] Chr3:123348391 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3636C>T (p.Pro1212=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001002620]|Aortic aneurysm, familial thoracic 7 [RCV002481803]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160160] |
Chr3:123682240 [GRCh38] Chr3:123401087 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1658C>T (p.Pro553Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001220000] |
Chr3:123722274 [GRCh38] Chr3:123441121 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1048G>A (p.Ala350Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001052945]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170672]|not provided [RCV001772264] |
Chr3:123733948 [GRCh38] Chr3:123452795 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.*1647G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001150220] |
Chr3:123612458 [GRCh38] Chr3:123331305 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2987G>A (p.Gly996Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001038853] |
Chr3:123700481 [GRCh38] Chr3:123419328 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3972C>T (p.Asn1324=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170117] |
Chr3:123664118 [GRCh38] Chr3:123382965 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1027A>G (p.Ser343Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001150630] |
Chr3:123733969 [GRCh38] Chr3:123452816 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5449G>A (p.Asp1817Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001206619]|Aortic aneurysm, familial thoracic 7 [RCV002480676]|not provided [RCV001776142] |
Chr3:123618690 [GRCh38] Chr3:123337537 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5407G>A (p.Glu1803Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001039118] |
Chr3:123618732 [GRCh38] Chr3:123337579 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4620-2A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001963882] |
Chr3:123640506 [GRCh38] Chr3:123359353 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.1327C>A (p.Pro443Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001220504]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799052]|not provided [RCV003481002] |
Chr3:123733085 [GRCh38] Chr3:123451932 [GRCh37] Chr3:3q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3832-2A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001236095] |
Chr3:123664260 [GRCh38] Chr3:123383107 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.1657C>T (p.Pro553Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001214551] |
Chr3:123722275 [GRCh38] Chr3:123441122 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3902G>A (p.Arg1301His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001213110]|Familial thoracic aortic aneurysm and aortic dissection [RCV002356910] |
Chr3:123664188 [GRCh38] Chr3:123383035 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.1253G>A (p.Ser418Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001219375] |
Chr3:123733743 [GRCh38] Chr3:123452590 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2386C>G (p.Leu796Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001055204]|Aortic aneurysm, familial thoracic 7 [RCV002479336] |
Chr3:123707758 [GRCh38] Chr3:123426605 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1519T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001144076] |
Chr3:123612586 [GRCh38] Chr3:123331433 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*1134C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001144078] |
Chr3:123612971 [GRCh38] Chr3:123331818 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.*1090A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001144079] |
Chr3:123613015 [GRCh38] Chr3:123331862 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.*1070T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001144080] |
Chr3:123613035 [GRCh38] Chr3:123331882 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3748C>T (p.Arg1250Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001234070]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348786] |
Chr3:123666302 [GRCh38] Chr3:123385149 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3022G>A (p.Val1008Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001048924]|Familial thoracic aortic aneurysm and aortic dissection [RCV003283900] |
Chr3:123700446 [GRCh38] Chr3:123419293 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2049G>A (p.Gln683=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001144427] |
Chr3:123708789 [GRCh38] Chr3:123427636 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.*981A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001145977] |
Chr3:123613124 [GRCh38] Chr3:123331971 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.648G>T (p.Gln216His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003117799]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170675] |
Chr3:123737484 [GRCh38] Chr3:123456331 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.47C>T (p.Ser16Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001230272]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327549] |
Chr3:123793795 [GRCh38] Chr3:123512642 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2940T>G (p.Asp980Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001040715]|Aortic aneurysm, familial thoracic 7 [RCV002481881]|Inborn genetic diseases [RCV002553070] |
Chr3:123700528 [GRCh38] Chr3:123419375 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1205G>A (p.Arg402Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001052726] |
Chr3:123733791 [GRCh38] Chr3:123452638 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-260C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001146580] |
Chr3:123884280 [GRCh38] Chr3:123603127 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-281G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001146582] |
Chr3:123884301 [GRCh38] Chr3:123603148 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.256C>G (p.Arg86Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001150742] |
Chr3:123752448 [GRCh38] Chr3:123471295 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.712G>A (p.Gly238Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001055812]|Aortic aneurysm, familial thoracic 7 [RCV002482004] |
Chr3:123737420 [GRCh38] Chr3:123456267 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2626C>T (p.Arg876Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001055898]|Aortic aneurysm, familial thoracic 7 [RCV002489644]|not provided [RCV001593226] |
Chr3:123700842 [GRCh38] Chr3:123419689 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.774-18A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001000193] |
Chr3:123734240 [GRCh38] Chr3:123453087 [GRCh37] Chr3:3q21.1 |
benign |
NM_053025.4(MYLK):c.4837+3A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001233567] |
Chr3:123640284 [GRCh38] Chr3:123359131 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1802A>G (p.His601Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001069456] |
Chr3:123722130 [GRCh38] Chr3:123440977 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2740G>C (p.Asp914His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001037798]|Familial thoracic aortic aneurysm and aortic dissection [RCV003346264] |
Chr3:123700728 [GRCh38] Chr3:123419575 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2629G>T (p.Val877Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001052194] |
Chr3:123700839 [GRCh38] Chr3:123419686 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.151A>G (p.Lys51Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001056926] |
Chr3:123793691 [GRCh38] Chr3:123512538 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.400C>G (p.Pro134Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001062998] |
Chr3:123739975 [GRCh38] Chr3:123458822 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2974C>T (p.Pro992Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001204048] |
Chr3:123700494 [GRCh38] Chr3:123419341 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4153C>T (p.Arg1385Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001063195]|Aortic aneurysm, familial thoracic 7 [RCV002482073] |
Chr3:123657261 [GRCh38] Chr3:123376108 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.178C>G (p.Pro60Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001063205] |
Chr3:123752526 [GRCh38] Chr3:123471373 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*404G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001148760] |
Chr3:123613701 [GRCh38] Chr3:123332548 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4362C>T (p.Ile1454=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003161115]|not provided [RCV001572298] |
Chr3:123649024 [GRCh38] Chr3:123367871 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4700G>A (p.Arg1567Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002069323]|not provided [RCV001751517]|not specified [RCV001251270] |
Chr3:123640424 [GRCh38] Chr3:123359271 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.*54A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001253968] |
Chr3:123614051 [GRCh38] Chr3:123332898 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.*73A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001253967] |
Chr3:123614032 [GRCh38] Chr3:123332879 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2390+1G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001258091] |
Chr3:123707753 [GRCh38] Chr3:123426600 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.5557C>T (p.Arg1853Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001295208]|Familial thoracic aortic aneurysm and aortic dissection [RCV003166641] |
Chr3:123614293 [GRCh38] Chr3:123333140 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1270G>A (p.Glu424Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001303813] |
Chr3:123733726 [GRCh38] Chr3:123452573 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2462+20G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002069383]|not specified [RCV001264514] |
Chr3:123701418 [GRCh38] Chr3:123420265 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.914C>T (p.Ser305Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001258154]|Familial thoracic aortic aneurysm and aortic dissection [RCV003294168]|not provided [RCV002285466] |
Chr3:123734082 [GRCh38] Chr3:123452929 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4322-11G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002069375]|Aortic aneurysm, familial thoracic 7 [RCV002499449]|not provided [RCV001587300]|not specified [RCV001260410] |
Chr3:123649075 [GRCh38] Chr3:123367922 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
GRCh37/hg19 3q21.1-21.2(chr3:123442360-123837654)x3 |
copy number gain |
not provided [RCV001259229] |
Chr3:123442360..123837654 [GRCh37] Chr3:3q21.1-21.2 |
uncertain significance |
NM_053025.4(MYLK):c.4834C>A (p.Leu1612Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001258153] |
Chr3:123640290 [GRCh38] Chr3:123359137 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5720GGGAAG[1] (p.1905GE[2]) |
microsatellite |
not provided [RCV001546005] |
Chr3:123614119..123614124 [GRCh38] Chr3:123332966..123332971 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3085G>A (p.Ala1029Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001871695]|not provided [RCV001555351] |
Chr3:123700383 [GRCh38] Chr3:123419230 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4983C>T (p.Phe1661=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002072299]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334623]|not provided [RCV001581351] |
Chr3:123629605 [GRCh38] Chr3:123348452 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5369-8T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001301382] |
Chr3:123618778 [GRCh38] Chr3:123337625 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4942G>A (p.Gly1648Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001339000] |
Chr3:123638090 [GRCh38] Chr3:123356937 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2849A>C (p.Gln950Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001315395]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438708] |
Chr3:123700619 [GRCh38] Chr3:123419466 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.358G>A (p.Glu120Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001315609] |
Chr3:123752346 [GRCh38] Chr3:123471193 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5659A>G (p.Ser1887Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002543578]|not provided [RCV001311608] |
Chr3:123614191 [GRCh38] Chr3:123333038 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NC_000003.11:g.(?_123332942)_(123512698_?)dup |
duplication |
Aortic aneurysm, familial thoracic 7 [RCV001363030] |
Chr3:123332942..123512698 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2634G>A (p.Glu878=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001414323]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456662] |
Chr3:123700834 [GRCh38] Chr3:123419681 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3343dup (p.Leu1115fs) |
duplication |
Isolated thoracic aortic aneurysm [RCV001374783] |
Chr3:123700124..123700125 [GRCh38] Chr3:123418971..123418972 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.3209A>G (p.Asp1070Gly) |
single nucleotide variant |
not specified [RCV001420797] |
Chr3:123700259 [GRCh38] Chr3:123419106 [GRCh37] Chr3:3q21.1 |
benign |
NM_053025.4(MYLK):c.1143C>A (p.Thr381=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799368] |
Chr3:123733853 [GRCh38] Chr3:123452700 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1206A>T (p.Arg402Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799369] |
Chr3:123733790 [GRCh38] Chr3:123452637 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.165G>A (p.Arg55=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799371] |
Chr3:123793677 [GRCh38] Chr3:123512524 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2501G>A (p.Gly834Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001307865] |
Chr3:123700967 [GRCh38] Chr3:123419814 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.992C>A (p.Thr331Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001312522]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384388] |
Chr3:123734004 [GRCh38] Chr3:123452851 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.1432C>T (p.Arg478Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001360286]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799072] |
Chr3:123732980 [GRCh38] Chr3:123451827 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4833G>T (p.Arg1611Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001359176] |
Chr3:123640291 [GRCh38] Chr3:123359138 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.97C>T (p.Pro33Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001303158]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384366] |
Chr3:123793745 [GRCh38] Chr3:123512592 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2225G>A (p.Cys742Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001372927] |
Chr3:123707919 [GRCh38] Chr3:123426766 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4390T>C (p.Tyr1464His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001373752] |
Chr3:123648996 [GRCh38] Chr3:123367843 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5339C>T (p.Pro1780Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001361163] |
Chr3:123620236 [GRCh38] Chr3:123339083 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4475G>A (p.Gly1492Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001341883] |
Chr3:123647368 [GRCh38] Chr3:123366215 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1683C>T (p.Cys561=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001316456] |
Chr3:123722249 [GRCh38] Chr3:123441096 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2518GGT[2] (p.Gly842del) |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV001305460] |
Chr3:123700942..123700944 [GRCh38] Chr3:123419789..123419791 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1966T>C (p.Trp656Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001314588] |
Chr3:123708872 [GRCh38] Chr3:123427719 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4540A>G (p.Asn1514Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001306592]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341612]|not provided [RCV002245956]|not specified [RCV003155391] |
Chr3:123647303 [GRCh38] Chr3:123366150 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4270G>A (p.Val1424Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001297100] |
Chr3:123657144 [GRCh38] Chr3:123375991 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1173C>G (p.Ser391Arg) |
single nucleotide variant |
not provided [RCV001557071] |
Chr3:123733823 [GRCh38] Chr3:123452670 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4967G>A (p.Ser1656Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001365144] |
Chr3:123629621 [GRCh38] Chr3:123348468 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.382G>T (p.Ala128Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001343895] |
Chr3:123739993 [GRCh38] Chr3:123458840 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1151C>T (p.Thr384Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001338004] |
Chr3:123733845 [GRCh38] Chr3:123452692 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.319G>A (p.Glu107Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001323174]|Aortic aneurysm, familial thoracic 7 [RCV002476519]|Familial thoracic aortic aneurysm and aortic dissection [RCV002322244]|not provided [RCV001751625] |
Chr3:123752385 [GRCh38] Chr3:123471232 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1370A>G (p.Gln457Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001324252] |
Chr3:123733042 [GRCh38] Chr3:123451889 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2657C>T (p.Ala886Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001304204] |
Chr3:123700811 [GRCh38] Chr3:123419658 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2996G>T (p.Ser999Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001316825]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438713] |
Chr3:123700472 [GRCh38] Chr3:123419319 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4519C>T (p.Arg1507Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001324842] |
Chr3:123647324 [GRCh38] Chr3:123366171 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2586G>C (p.Glu862Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001300642] |
Chr3:123700882 [GRCh38] Chr3:123419729 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1399G>A (p.Ala467Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001322281] |
Chr3:123733013 [GRCh38] Chr3:123451860 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2608C>G (p.Arg870Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001369830]|Inborn genetic diseases [RCV002548628] |
Chr3:123700860 [GRCh38] Chr3:123419707 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.711C>G (p.Asn237Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001323371] |
Chr3:123737421 [GRCh38] Chr3:123456268 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4165T>G (p.Phe1389Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001324830] |
Chr3:123657249 [GRCh38] Chr3:123376096 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5012C>T (p.Ala1671Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001341378] |
Chr3:123629576 [GRCh38] Chr3:123348423 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1348_1353del (p.Glu450_Gly451del) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001347677] |
Chr3:123733059..123733064 [GRCh38] Chr3:123451906..123451911 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.348G>A (p.Gln116=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002070113]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451646]|not specified [RCV001290624] |
Chr3:123752356 [GRCh38] Chr3:123471203 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.100G>A (p.Ala34Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001322511] |
Chr3:123793742 [GRCh38] Chr3:123512589 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2662C>T (p.Arg888Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001373037]|Aortic aneurysm, familial thoracic 7 [RCV002476706]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438874]|not provided [RCV002473284] |
Chr3:123700806 [GRCh38] Chr3:123419653 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4716A>T (p.Gly1572=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001364302]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341771] |
Chr3:123640408 [GRCh38] Chr3:123359255 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.5650G>A (p.Ala1884Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001343358] |
Chr3:123614200 [GRCh38] Chr3:123333047 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.157G>A (p.Glu53Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001363882]|Aortic aneurysm, familial thoracic 7 [RCV002488117] |
Chr3:123793685 [GRCh38] Chr3:123512532 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1711C>T (p.Gln571Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001363920] |
Chr3:123722221 [GRCh38] Chr3:123441068 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2125G>T (p.Val709Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001325222] |
Chr3:123708713 [GRCh38] Chr3:123427560 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4439G>A (p.Arg1480Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001314019]|Aortic aneurysm, familial thoracic 7 [RCV002504481]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329264] |
Chr3:123647404 [GRCh38] Chr3:123366251 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.754+6G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001314035] |
Chr3:123737372 [GRCh38] Chr3:123456219 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.608C>T (p.Pro203Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001350991]|not provided [RCV001762605] |
Chr3:123737524 [GRCh38] Chr3:123456371 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4093T>A (p.Ser1365Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002542981]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382497]|not provided [RCV001813061] |
Chr3:123657321 [GRCh38] Chr3:123376168 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2769G>A (p.Met923Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001299744] |
Chr3:123700699 [GRCh38] Chr3:123419546 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3248G>A (p.Gly1083Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001331581]|Aortic aneurysm, familial thoracic 7 [RCV002476547]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169550]|not provided [RCV001751645] |
Chr3:123700220 [GRCh38] Chr3:123419067 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5076C>T (p.Ala1692=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001412767]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799081] |
Chr3:123629512 [GRCh38] Chr3:123348359 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5736AGA[1] (p.Glu1914del) |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV001306715]|not provided [RCV002221624] |
Chr3:123614109..123614111 [GRCh38] Chr3:123332956..123332958 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.469G>A (p.Gly157Arg) |
single nucleotide variant |
not provided [RCV001311610] |
Chr3:123739016 [GRCh38] Chr3:123457863 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.7G>T (p.Asp3Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001337529]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150423]|not provided [RCV001587355] |
Chr3:123793835 [GRCh38] Chr3:123512682 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3287C>T (p.Thr1096Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001366009] |
Chr3:123700181 [GRCh38] Chr3:123419028 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4455A>G (p.Lys1485=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001454086] |
Chr3:123647388 [GRCh38] Chr3:123366235 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1524C>T (p.Ala508=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001480242]|Familial thoracic aortic aneurysm and aortic dissection [RCV002396141] |
Chr3:123726071 [GRCh38] Chr3:123444918 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4332G>A (p.Glu1444=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001442512]|not specified [RCV003155410] |
Chr3:123649054 [GRCh38] Chr3:123367901 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.166-4G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001472105] |
Chr3:123752542 [GRCh38] Chr3:123471389 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2574G>A (p.Gln858=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001489805] |
Chr3:123700894 [GRCh38] Chr3:123419741 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5239-9A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001493564] |
Chr3:123620345 [GRCh38] Chr3:123339192 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1617G>A (p.Gly539=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001493581]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298876] |
Chr3:123725978 [GRCh38] Chr3:123444825 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2577T>G (p.Gly859=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001485039] |
Chr3:123700891 [GRCh38] Chr3:123419738 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4359A>C (p.Thr1453=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001446324] |
Chr3:123649027 [GRCh38] Chr3:123367874 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5577C>T (p.Tyr1859=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001412082]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350794] |
Chr3:123614273 [GRCh38] Chr3:123333120 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.493del (p.Thr165fs) |
deletion |
not provided [RCV001529936] |
Chr3:123738992 [GRCh38] Chr3:123457839 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3471C>T (p.Ile1157=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001437279] |
Chr3:123692829 [GRCh38] Chr3:123411676 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5613T>C (p.Asp1871=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001394342] |
Chr3:123614237 [GRCh38] Chr3:123333084 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.755-6T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001394378] |
Chr3:123735422 [GRCh38] Chr3:123454269 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4962-1G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001379261] |
Chr3:123629627 [GRCh38] Chr3:123348474 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.696G>A (p.Thr232=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001439820] |
Chr3:123737436 [GRCh38] Chr3:123456283 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5133G>A (p.Thr1711=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001402717]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350771] |
Chr3:123626923 [GRCh38] Chr3:123345770 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4114del (p.Asp1372fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001380831] |
Chr3:123657300 [GRCh38] Chr3:123376147 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.1008G>A (p.Pro336=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001446905]|Familial thoracic aortic aneurysm and aortic dissection [RCV002432241]|not provided [RCV003426102] |
Chr3:123733988 [GRCh38] Chr3:123452835 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1953C>T (p.Pro651=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001410511]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382575] |
Chr3:123708885 [GRCh38] Chr3:123427732 [GRCh37] Chr3:3q21.1 |
likely benign |
Single allele |
deletion |
Deafness-lymphedema-leukemia syndrome [RCV001541926] |
Chr3:123000000..129700000 [GRCh37] Chr3:3q21.1-22.1 |
pathogenic |
NM_053025.4(MYLK):c.3084C>T (p.Asn1028=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001407757]|Familial thoracic aortic aneurysm and aortic dissection [RCV002322408]|not provided [RCV001567170] |
Chr3:123700384 [GRCh38] Chr3:123419231 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.45C>T (p.Thr15=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001436302] |
Chr3:123793797 [GRCh38] Chr3:123512644 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1287A>G (p.Gln429=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001423364]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384628] |
Chr3:123733709 [GRCh38] Chr3:123452556 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5340G>A (p.Pro1780=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001398341] |
Chr3:123620235 [GRCh38] Chr3:123339082 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4224C>T (p.Asn1408=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001408572]|Aortic aneurysm, familial thoracic 7 [RCV002499876]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329441]|not provided [RCV001551957]|not specified [RCV003331152] |
Chr3:123657190 [GRCh38] Chr3:123376037 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3378A>C (p.Pro1126=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001447635] |
Chr3:123700090 [GRCh38] Chr3:123418937 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.726C>T (p.Ala242=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001438159] |
Chr3:123737406 [GRCh38] Chr3:123456253 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4962-5T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001424279] |
Chr3:123629631 [GRCh38] Chr3:123348478 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4953C>T (p.Cys1651=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001435352] |
Chr3:123638079 [GRCh38] Chr3:123356926 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5368+9_5368+11del |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV001486556]|not specified [RCV003323889] |
Chr3:123620196..123620198 [GRCh38] Chr3:123339043..123339045 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.589-10C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001473992] |
Chr3:123737553 [GRCh38] Chr3:123456400 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4131G>T (p.Thr1377=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001491450] |
Chr3:123657283 [GRCh38] Chr3:123376130 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5454A>G (p.Leu1818=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001479575]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350980] |
Chr3:123618685 [GRCh38] Chr3:123337532 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3832-8G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001497048] |
Chr3:123664266 [GRCh38] Chr3:123383113 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4214G>A (p.Arg1405His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001882704]|Aortic aneurysm, familial thoracic 7 [RCV002501943]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329689]|not provided [RCV001584984] |
Chr3:123657200 [GRCh38] Chr3:123376047 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3566-8C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001453367] |
Chr3:123682318 [GRCh38] Chr3:123401165 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5157A>T (p.Leu1719=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001463714] |
Chr3:123626899 [GRCh38] Chr3:123345746 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3255A>G (p.Thr1085=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001460961] |
Chr3:123700213 [GRCh38] Chr3:123419060 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.976A>G (p.Lys326Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001882735]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386483]|not provided [RCV001592192] |
Chr3:123734020 [GRCh38] Chr3:123452867 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2196C>T (p.Ala732=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001501619] |
Chr3:123707948 [GRCh38] Chr3:123426795 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3285G>C (p.Gly1095=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001405515] |
Chr3:123700183 [GRCh38] Chr3:123419030 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.589-8A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001451076] |
Chr3:123737551 [GRCh38] Chr3:123456398 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2787G>C (p.Leu929=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001456970] |
Chr3:123700681 [GRCh38] Chr3:123419528 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1047C>T (p.Ala349=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001451084]|Familial thoracic aortic aneurysm and aortic dissection [RCV002405063] |
Chr3:123733949 [GRCh38] Chr3:123452796 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5016C>T (p.Asn1672=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001506625]|not provided [RCV001762704] |
Chr3:123629572 [GRCh38] Chr3:123348419 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3448+3086G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001519673] |
Chr3:123696934 [GRCh38] Chr3:123415781 [GRCh37] Chr3:3q21.1 |
benign |
NM_053025.4(MYLK):c.1805-10T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001499157] |
Chr3:123709903 [GRCh38] Chr3:123428750 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1805-7C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001483384] |
Chr3:123709900 [GRCh38] Chr3:123428747 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4812C>T (p.Ile1604=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001485311] |
Chr3:123640312 [GRCh38] Chr3:123359159 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2082C>T (p.Thr694=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001476824] |
Chr3:123708756 [GRCh38] Chr3:123427603 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5369-4C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001480748] |
Chr3:123618774 [GRCh38] Chr3:123337621 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1652-5C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001393649] |
Chr3:123722285 [GRCh38] Chr3:123441132 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.777A>G (p.Ser259=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001497155] |
Chr3:123734219 [GRCh38] Chr3:123453066 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4011A>T (p.Thr1337=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001435268] |
Chr3:123657403 [GRCh38] Chr3:123376250 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3831+9C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001400675] |
Chr3:123666210 [GRCh38] Chr3:123385057 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.345C>A (p.Arg115=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001471877] |
Chr3:123752359 [GRCh38] Chr3:123471206 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1827T>C (p.Ser609=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001472437] |
Chr3:123709871 [GRCh38] Chr3:123428718 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.869C>T (p.Ala290Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003107153] |
Chr3:123734127 [GRCh38] Chr3:123452974 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1054G>A (p.Val352Ile) |
single nucleotide variant |
not provided [RCV001755317] |
Chr3:123733942 [GRCh38] Chr3:123452789 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4396A>G (p.Ile1466Val) |
single nucleotide variant |
not provided [RCV001755453] |
Chr3:123648990 [GRCh38] Chr3:123367837 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3989A>C (p.Lys1330Thr) |
single nucleotide variant |
not provided [RCV001755429] |
Chr3:123657425 [GRCh38] Chr3:123376272 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2996G>A (p.Ser999Asn) |
single nucleotide variant |
not provided [RCV001755474] |
Chr3:123700472 [GRCh38] Chr3:123419319 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3410C>T (p.Thr1137Ile) |
single nucleotide variant |
not provided [RCV001755473] |
Chr3:123700058 [GRCh38] Chr3:123418905 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5609G>T (p.Ser1870Ile) |
single nucleotide variant |
not provided [RCV001755478] |
Chr3:123614241 [GRCh38] Chr3:123333088 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3403G>A (p.Gly1135Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002458595]|not provided [RCV001755398] |
Chr3:123700065 [GRCh38] Chr3:123418912 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4355T>G (p.Val1452Gly) |
single nucleotide variant |
not provided [RCV001755521] |
Chr3:123649031 [GRCh38] Chr3:123367878 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1771C>T (p.Gln591Ter) |
single nucleotide variant |
not provided [RCV001784692] |
Chr3:123722161 [GRCh38] Chr3:123441008 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.2957G>T (p.Gly986Val) |
single nucleotide variant |
not provided [RCV001758943] |
Chr3:123700511 [GRCh38] Chr3:123419358 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2435A>C (p.Gln812Pro) |
single nucleotide variant |
not provided [RCV001758976] |
Chr3:123701465 [GRCh38] Chr3:123420312 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3887C>T (p.Thr1296Ile) |
single nucleotide variant |
not provided [RCV001759008] |
Chr3:123664203 [GRCh38] Chr3:123383050 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1517-2A>G |
single nucleotide variant |
not provided [RCV001755377] |
Chr3:123726080 [GRCh38] Chr3:123444927 [GRCh37] Chr3:3q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_053025.4(MYLK):c.3393dup (p.Thr1132fs) |
duplication |
not provided [RCV001776337] |
Chr3:123700074..123700075 [GRCh38] Chr3:123418921..123418922 [GRCh37] Chr3:3q21.1 |
pathogenic|uncertain significance |
NM_053025.4(MYLK):c.4303G>A (p.Val1435Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003355545]|not provided [RCV001776348]|not specified [RCV003401707] |
Chr3:123649180 [GRCh38] Chr3:123368027 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1433G>C (p.Arg478Pro) |
single nucleotide variant |
not provided [RCV001776378] |
Chr3:123732979 [GRCh38] Chr3:123451826 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3598G>A (p.Glu1200Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002458600]|not provided [RCV001768413] |
Chr3:123682278 [GRCh38] Chr3:123401125 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2075C>T (p.Thr692Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799373] |
Chr3:123708763 [GRCh38] Chr3:123427610 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2105G>A (p.Gly702Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799374] |
Chr3:123708733 [GRCh38] Chr3:123427580 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.773+10G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002544364]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799375] |
Chr3:123735388 [GRCh38] Chr3:123454235 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2066A>G (p.Asp689Gly) |
single nucleotide variant |
not provided [RCV001753302] |
Chr3:123708772 [GRCh38] Chr3:123427619 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.376A>G (p.Ser126Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002488622]|not provided [RCV001753337] |
Chr3:123739999 [GRCh38] Chr3:123458846 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5350G>A (p.Glu1784Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001868731]|not provided [RCV001753351] |
Chr3:123620225 [GRCh38] Chr3:123339072 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4936A>G (p.Ser1646Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001885101]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343841]|not provided [RCV001753389] |
Chr3:123638096 [GRCh38] Chr3:123356943 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5108A>C (p.Asp1703Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002334682]|not provided [RCV001766275] |
Chr3:123629480 [GRCh38] Chr3:123348327 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.248G>T (p.Cys83Phe) |
single nucleotide variant |
not provided [RCV001799911] |
Chr3:123752456 [GRCh38] Chr3:123471303 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2944C>T (p.Arg982Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382642]|not provided [RCV001774907] |
Chr3:123700524 [GRCh38] Chr3:123419371 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5095C>A (p.Leu1699Met) |
single nucleotide variant |
not provided [RCV001774947] |
Chr3:123629493 [GRCh38] Chr3:123348340 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1726G>A (p.Glu576Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003299008]|not provided [RCV001799956] |
Chr3:123722206 [GRCh38] Chr3:123441053 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4620-1G>T |
single nucleotide variant |
not provided [RCV001759150] |
Chr3:123640505 [GRCh38] Chr3:123359352 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3632C>T (p.Pro1211Leu) |
single nucleotide variant |
not provided [RCV001767916] |
Chr3:123682244 [GRCh38] Chr3:123401091 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2254G>A (p.Val752Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002540642]|Familial thoracic aortic aneurysm and aortic dissection [RCV002449420]|not provided [RCV001767920] |
Chr3:123707890 [GRCh38] Chr3:123426737 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1369C>G (p.Gln457Glu) |
single nucleotide variant |
not provided [RCV001767929] |
Chr3:123733043 [GRCh38] Chr3:123451890 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4904A>C (p.Tyr1635Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001868805]|not provided [RCV001776451] |
Chr3:123638128 [GRCh38] Chr3:123356975 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3166_3167insCTGAGACCCTGAAGCCAATGGGCAACGCCAAGCCTG (p.1032AETLKPMGNAKP[3]) |
insertion |
not provided [RCV001776469] |
Chr3:123700301..123700302 [GRCh38] Chr3:123419148..123419149 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4571G>A (p.Cys1524Tyr) |
single nucleotide variant |
not provided [RCV001776495] |
Chr3:123647272 [GRCh38] Chr3:123366119 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2986G>A (p.Gly996Ser) |
single nucleotide variant |
not provided [RCV001769632] |
Chr3:123700482 [GRCh38] Chr3:123419329 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4291C>T (p.Pro1431Ser) |
single nucleotide variant |
not provided [RCV001768431] |
Chr3:123649192 [GRCh38] Chr3:123368039 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3376C>T (p.Pro1126Ser) |
single nucleotide variant |
not provided [RCV001757396] |
Chr3:123700092 [GRCh38] Chr3:123418939 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1408C>T (p.His470Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001868674]|not provided [RCV001757429] |
Chr3:123733004 [GRCh38] Chr3:123451851 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3181T>C (p.Ser1061Pro) |
single nucleotide variant |
not provided [RCV001776840] |
Chr3:123700287 [GRCh38] Chr3:123419134 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1304G>A (p.Cys435Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002506815]|not provided [RCV001776848] |
Chr3:123733692 [GRCh38] Chr3:123452539 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4656C>T (p.Asp1552=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002077270]|not provided [RCV001816366] |
Chr3:123640468 [GRCh38] Chr3:123359315 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2608C>T (p.Arg870Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002541517]|not provided [RCV001816367] |
Chr3:123700860 [GRCh38] Chr3:123419707 [GRCh37] Chr3:3q21.1 |
likely pathogenic|uncertain significance |
NM_053025.4(MYLK):c.4544G>A (p.Cys1515Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002482316]|not provided [RCV001794842] |
Chr3:123647299 [GRCh38] Chr3:123366146 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.17T>C (p.Leu6Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799372] |
Chr3:123793825 [GRCh38] Chr3:123512672 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1594G>C (p.Val532Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002034626]|not provided [RCV001786961] |
Chr3:123726001 [GRCh38] Chr3:123444848 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1525G>A (p.Val509Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002541322]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799370] |
Chr3:123726070 [GRCh38] Chr3:123444917 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1132C>T (p.Arg378Cys) |
single nucleotide variant |
not provided [RCV001757457] |
Chr3:123733864 [GRCh38] Chr3:123452711 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5163A>C (p.Lys1721Asn) |
single nucleotide variant |
not provided [RCV001776691] |
Chr3:123626893 [GRCh38] Chr3:123345740 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.26C>T (p.Ser9Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002458596]|not provided [RCV001757341] |
Chr3:123793816 [GRCh38] Chr3:123512663 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.454C>T (p.Arg152Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002034522]|Aortic aneurysm, familial thoracic 7 [RCV002503256]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329747]|MYLK-related condition [RCV003394249]|not provided [RCV001776772] |
Chr3:123739031 [GRCh38] Chr3:123457878 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.754+3A>G |
single nucleotide variant |
not provided [RCV001757346] |
Chr3:123737375 [GRCh38] Chr3:123456222 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2792G>A (p.Arg931Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002477996]|Aortic aneurysm, familial thoracic 7 [RCV002540627]|Familial thoracic aortic aneurysm and aortic dissection [RCV003163896]|not provided [RCV001757434] |
Chr3:123700676 [GRCh38] Chr3:123419523 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2140+5G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003120680]|not provided [RCV001753365] |
Chr3:123708693 [GRCh38] Chr3:123427540 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2308G>A (p.Val770Met) |
single nucleotide variant |
not provided [RCV001776968] |
Chr3:123707836 [GRCh38] Chr3:123426683 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4593G>C (p.Lys1531Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002477999]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334684]|not provided [RCV001759095] |
Chr3:123647250 [GRCh38] Chr3:123366097 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.92A>G (p.Glu31Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001868710]|not provided [RCV001759211] |
Chr3:123793750 [GRCh38] Chr3:123512597 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5092A>C (p.Asn1698His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002506813]|not provided [RCV001776688] |
Chr3:123629496 [GRCh38] Chr3:123348343 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3167A>G (p.Asp1056Gly) |
single nucleotide variant |
not provided [RCV001811813] |
Chr3:123700301 [GRCh38] Chr3:123419148 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2030A>G (p.Gln677Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001944976] |
Chr3:123708808 [GRCh38] Chr3:123427655 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.531G>A (p.Met177Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001963806] |
Chr3:123738954 [GRCh38] Chr3:123457801 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5169del (p.Lys1724fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001947252] |
Chr3:123626887 [GRCh38] Chr3:123345734 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.3919T>C (p.Cys1307Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001971236] |
Chr3:123664171 [GRCh38] Chr3:123383018 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3329C>T (p.Ala1110Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001950635] |
Chr3:123700139 [GRCh38] Chr3:123418986 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3782T>G (p.Val1261Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002025836] |
Chr3:123666268 [GRCh38] Chr3:123385115 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3146_3147insAATGGGCAACGCCAAGCCTGCTGAGACCCTGAAGCCAATGGGCAACGCCAAGCCTGCCGAGACCCTGAAGCC (p.1032AETLKPMGNAKP[4]) |
insertion |
Aortic aneurysm, familial thoracic 7 [RCV001928927] |
Chr3:123700321..123700322 [GRCh38] Chr3:123419168..123419169 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.754+5C>T |
single nucleotide variant |
not specified [RCV001823814] |
Chr3:123737373 [GRCh38] Chr3:123456220 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.513_514delinsTT (p.Val172Phe) |
indel |
Aortic aneurysm, familial thoracic 7 [RCV001874125] |
Chr3:123738971..123738972 [GRCh38] Chr3:123457818..123457819 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5545A>G (p.Ile1849Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001971075]|Familial thoracic aortic aneurysm and aortic dissection [RCV002344147] |
Chr3:123614305 [GRCh38] Chr3:123333152 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.983del (p.Ser328fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001896908] |
Chr3:123734013 [GRCh38] Chr3:123452860 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2612G>C (p.Gly871Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001914396] |
Chr3:123700856 [GRCh38] Chr3:123419703 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2381T>A (p.Ile794Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001969260] |
Chr3:123707763 [GRCh38] Chr3:123426610 [GRCh37] Chr3:3q21.1 |
uncertain significance |
GRCh37/hg19 3q21.1-21.2(chr3:123426881-124387174)x1 |
copy number loss |
not provided [RCV001827926] |
Chr3:123426881..124387174 [GRCh37] Chr3:3q21.1-21.2 |
pathogenic |
NM_053025.4(MYLK):c.5488T>A (p.Cys1830Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002008797] |
Chr3:123618651 [GRCh38] Chr3:123337498 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3421A>G (p.Thr1141Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001890366] |
Chr3:123700047 [GRCh38] Chr3:123418894 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.301del (p.Arg101fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001928678]|Aortic aneurysm, familial thoracic 7 [RCV002479393]|Familial thoracic aortic aneurysm and aortic dissection [RCV002441031] |
Chr3:123752403 [GRCh38] Chr3:123471250 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2885C>T (p.Thr962Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001988423] |
Chr3:123700583 [GRCh38] Chr3:123419430 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NC_000003.11:g.(?_123401061)_(123404712_?)dup |
duplication |
Aortic aneurysm, familial thoracic 7 [RCV001982826] |
Chr3:123401061..123404712 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4955A>G (p.Tyr1652Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002041799] |
Chr3:123638077 [GRCh38] Chr3:123356924 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2974C>G (p.Pro992Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002006690] |
Chr3:123700494 [GRCh38] Chr3:123419341 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3855G>T (p.Lys1285Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001912925] |
Chr3:123664235 [GRCh38] Chr3:123383082 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3751_3752del (p.Ala1251fs) |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV001945438] |
Chr3:123666298..123666299 [GRCh38] Chr3:123385145..123385146 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.454C>A (p.Arg152Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001910150]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334865] |
Chr3:123739031 [GRCh38] Chr3:123457878 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.452C>A (p.Thr151Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001948074] |
Chr3:123739033 [GRCh38] Chr3:123457880 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.222_227del (p.Ser75_Gly76del) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001910323] |
Chr3:123752477..123752482 [GRCh38] Chr3:123471324..123471329 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1963A>T (p.Ile655Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001889557] |
Chr3:123708875 [GRCh38] Chr3:123427722 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1553G>T (p.Ser518Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002020990] |
Chr3:123726042 [GRCh38] Chr3:123444889 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2483G>T (p.Cys828Phe) |
single nucleotide variant |
not specified [RCV001823833] |
Chr3:123700985 [GRCh38] Chr3:123419832 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3565+13del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001965529] |
Chr3:123692722 [GRCh38] Chr3:123411569 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5642C>G (p.Thr1881Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001909295] |
Chr3:123614208 [GRCh38] Chr3:123333055 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2885C>A (p.Thr962Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002440899]|not provided [RCV001837671] |
Chr3:123700583 [GRCh38] Chr3:123419430 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3527C>T (p.Ala1176Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002044520] |
Chr3:123692773 [GRCh38] Chr3:123411620 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2390+6T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002040257] |
Chr3:123707748 [GRCh38] Chr3:123426595 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3211G>A (p.Val1071Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001949153]|Aortic aneurysm, familial thoracic 7 [RCV002479522]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442914] |
Chr3:123700257 [GRCh38] Chr3:123419104 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4915_4916delinsAC (p.Gly1639Thr) |
indel |
Aortic aneurysm, familial thoracic 7 [RCV002024473] |
Chr3:123638116..123638117 [GRCh38] Chr3:123356963..123356964 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.261G>T (p.Gly87=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001985524] |
Chr3:123752443 [GRCh38] Chr3:123471290 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.908G>T (p.Gly303Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001871319]|Inborn genetic diseases [RCV003289174] |
Chr3:123734088 [GRCh38] Chr3:123452935 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4422del (p.Lys1474fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001911117] |
Chr3:123647421 [GRCh38] Chr3:123366268 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.3449-8C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001946875] |
Chr3:123692859 [GRCh38] Chr3:123411706 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2462+3G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002044430]|Familial thoracic aortic aneurysm and aortic dissection [RCV002449455] |
Chr3:123701435 [GRCh38] Chr3:123420282 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.404T>A (p.Val135Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002006951] |
Chr3:123739971 [GRCh38] Chr3:123458818 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5047G>A (p.Glu1683Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001947283] |
Chr3:123629541 [GRCh38] Chr3:123348388 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.233G>A (p.Arg78His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001948641] |
Chr3:123752471 [GRCh38] Chr3:123471318 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1387G>T (p.Val463Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001871386] |
Chr3:123733025 [GRCh38] Chr3:123451872 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NC_000003.11:g.(?_123426778)_(123453370_?)del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001913224] |
Chr3:123426778..123453370 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4455A>C (p.Lys1485Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002043700]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161279] |
Chr3:123647388 [GRCh38] Chr3:123366235 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5046C>T (p.Asp1682=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002543334]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334720]|not specified [RCV001844742] |
Chr3:123629542 [GRCh38] Chr3:123348389 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4027A>G (p.Ile1343Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002043446] |
Chr3:123657387 [GRCh38] Chr3:123376234 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1192G>C (p.Ala398Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002004208] |
Chr3:123733804 [GRCh38] Chr3:123452651 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4842T>A (p.Asn1614Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002542747]|not specified [RCV001823820] |
Chr3:123638190 [GRCh38] Chr3:123357037 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.305G>T (p.Gly102Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001907431]|Familial thoracic aortic aneurysm and aortic dissection [RCV002449492] |
Chr3:123752399 [GRCh38] Chr3:123471246 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.229G>C (p.Gly77Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001963341] |
Chr3:123752475 [GRCh38] Chr3:123471322 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1676C>T (p.Ser559Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001944410] |
Chr3:123722256 [GRCh38] Chr3:123441103 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2978C>T (p.Ala993Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002036024]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161170] |
Chr3:123700490 [GRCh38] Chr3:123419337 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4167C>A (p.Phe1389Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001937767] |
Chr3:123657247 [GRCh38] Chr3:123376094 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4470G>A (p.Trp1490Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001876664] |
Chr3:123647373 [GRCh38] Chr3:123366220 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.3592G>T (p.Ala1198Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001917037]|Inborn genetic diseases [RCV002558423] |
Chr3:123682284 [GRCh38] Chr3:123401131 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3037C>T (p.Pro1013Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001919695] |
Chr3:123700431 [GRCh38] Chr3:123419278 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4289-3C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002018980] |
Chr3:123649197 [GRCh38] Chr3:123368044 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2273G>T (p.Gly758Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002036762] |
Chr3:123707871 [GRCh38] Chr3:123426718 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1618A>T (p.Thr540Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001938245]|Aortic aneurysm, familial thoracic 7 [RCV002484521] |
Chr3:123725977 [GRCh38] Chr3:123444824 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1153A>G (p.Arg385Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001937882] |
Chr3:123733843 [GRCh38] Chr3:123452690 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5720_5731del (p.1905GE[1]) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV002018645] |
Chr3:123614119..123614130 [GRCh38] Chr3:123332966..123332977 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4093_4094del (p.Ser1365fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001941678] |
Chr3:123657320..123657321 [GRCh38] Chr3:123376167..123376168 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.2065G>A (p.Asp689Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001979679] |
Chr3:123708773 [GRCh38] Chr3:123427620 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1037C>A (p.Thr346Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001903007] |
Chr3:123733959 [GRCh38] Chr3:123452806 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1016A>G (p.Gln339Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001870402]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334747] |
Chr3:123733980 [GRCh38] Chr3:123452827 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3402_3403delinsTA (p.Gly1135Arg) |
indel |
Aortic aneurysm, familial thoracic 7 [RCV001953064] |
Chr3:123700065..123700066 [GRCh38] Chr3:123418912..123418913 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.588G>C (p.Lys196Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002029952] |
Chr3:123738897 [GRCh38] Chr3:123457744 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4993A>G (p.Asn1665Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001931587] |
Chr3:123629595 [GRCh38] Chr3:123348442 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NC_000003.11:g.(?_123332952)_(123386054_?)del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV001956045] |
Chr3:123332952..123386054 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.626T>C (p.Val209Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001864996] |
Chr3:123737506 [GRCh38] Chr3:123456353 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1310-1G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002028935] |
Chr3:123733103 [GRCh38] Chr3:123451950 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3561G>A (p.Val1187=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001978271] |
Chr3:123692739 [GRCh38] Chr3:123411586 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.5438A>C (p.Lys1813Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001934353] |
Chr3:123618701 [GRCh38] Chr3:123337548 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3222T>C (p.Asp1074=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001951126] |
Chr3:123700246 [GRCh38] Chr3:123419093 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3966G>C (p.Gln1322His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001974849]|Familial thoracic aortic aneurysm and aortic dissection [RCV002324375] |
Chr3:123664124 [GRCh38] Chr3:123382971 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4534A>G (p.Ile1512Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001878588] |
Chr3:123647309 [GRCh38] Chr3:123366156 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1490C>T (p.Ser497Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002016115] |
Chr3:123732922 [GRCh38] Chr3:123451769 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3331G>C (p.Glu1111Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001958434] |
Chr3:123700137 [GRCh38] Chr3:123418984 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NC_000003.11:g.(?_120365818)_(133465047_?)del |
deletion |
Alkaptonuria [RCV002035459] |
Chr3:120365818..133465047 [GRCh37] Chr3:3q13.33-22.1 |
pathogenic |
NM_053025.4(MYLK):c.753A>G (p.Gln251=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001925609] |
Chr3:123737379 [GRCh38] Chr3:123456226 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4962-2A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002036733] |
Chr3:123629628 [GRCh38] Chr3:123348475 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.1968G>C (p.Trp656Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001920508]|Aortic aneurysm, familial thoracic 7 [RCV002478372] |
Chr3:123708870 [GRCh38] Chr3:123427717 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3635C>A (p.Pro1212His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001904648] |
Chr3:123682241 [GRCh38] Chr3:123401088 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.248G>A (p.Cys83Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002026074] |
Chr3:123752456 [GRCh38] Chr3:123471303 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.245A>G (p.Asp82Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002015816] |
Chr3:123752459 [GRCh38] Chr3:123471306 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5015A>G (p.Asn1672Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001865207]|Aortic aneurysm, familial thoracic 7 [RCV002490038]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334769] |
Chr3:123629573 [GRCh38] Chr3:123348420 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2674G>A (p.Val892Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002011335] |
Chr3:123700794 [GRCh38] Chr3:123419641 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4783_4784delinsGT (p.Asn1595Val) |
indel |
Aortic aneurysm, familial thoracic 7 [RCV001924965] |
Chr3:123640340..123640341 [GRCh38] Chr3:123359187..123359188 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5558G>A (p.Arg1853His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001870170] |
Chr3:123614292 [GRCh38] Chr3:123333139 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1438A>G (p.Arg480Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001922298] |
Chr3:123732974 [GRCh38] Chr3:123451821 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5515G>A (p.Glu1839Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001932898] |
Chr3:123614335 [GRCh38] Chr3:123333182 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3231C>A (p.Cys1077Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002035299] |
Chr3:123700237 [GRCh38] Chr3:123419084 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.1090dup (p.Leu364fs) |
duplication |
Aortic aneurysm, familial thoracic 7 [RCV001922515] |
Chr3:123733905..123733906 [GRCh38] Chr3:123452752..123452753 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2193A>G (p.Thr731=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001956598] |
Chr3:123707951 [GRCh38] Chr3:123426798 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2927C>G (p.Pro976Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001919582] |
Chr3:123700541 [GRCh38] Chr3:123419388 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2506G>T (p.Val836Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002046095] |
Chr3:123700962 [GRCh38] Chr3:123419809 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3910C>G (p.His1304Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001931474]|Familial thoracic aortic aneurysm and aortic dissection [RCV002370549]|not provided [RCV002255706] |
Chr3:123664180 [GRCh38] Chr3:123383027 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4699C>T (p.Arg1567Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001902845]|Aortic aneurysm, familial thoracic 7 [RCV002478241]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334805] |
Chr3:123640425 [GRCh38] Chr3:123359272 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2791C>T (p.Arg931Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV001923544]|Aortic aneurysm, familial thoracic 7 [RCV002507041]|not provided [RCV003318704] |
Chr3:123700677 [GRCh38] Chr3:123419524 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4650C>A (p.Ile1550=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002090247] |
Chr3:123640474 [GRCh38] Chr3:123359321 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4649T>C (p.Ile1550Thr) |
single nucleotide variant |
not provided [RCV002224350] |
Chr3:123640475 [GRCh38] Chr3:123359322 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3087C>G (p.Ala1029=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002185540] |
Chr3:123700381 [GRCh38] Chr3:123419228 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1152C>T (p.Thr384=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002104635] |
Chr3:123733844 [GRCh38] Chr3:123452691 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1164C>A (p.Gly388=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002074770]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325649] |
Chr3:123733832 [GRCh38] Chr3:123452679 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2409C>T (p.Cys803=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002127604] |
Chr3:123701491 [GRCh38] Chr3:123420338 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2826G>A (p.Glu942=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002209752]|Familial thoracic aortic aneurysm and aortic dissection [RCV002441295] |
Chr3:123700642 [GRCh38] Chr3:123419489 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3566-11T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002110628] |
Chr3:123682321 [GRCh38] Chr3:123401168 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1335G>A (p.Val445=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002084976]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386950] |
Chr3:123733077 [GRCh38] Chr3:123451924 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.241_244dup (p.Asp82fs) |
duplication |
not provided [RCV002224710] |
Chr3:123752459..123752460 [GRCh38] Chr3:123471306..123471307 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.3504C>A (p.Tyr1168Ter) |
single nucleotide variant |
not provided [RCV002224751] |
Chr3:123692796 [GRCh38] Chr3:123411643 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.4427G>A (p.Gly1476Glu) |
single nucleotide variant |
not provided [RCV002223657] |
Chr3:123647416 [GRCh38] Chr3:123366263 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5637G>A (p.Lys1879=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002106365] |
Chr3:123614213 [GRCh38] Chr3:123333060 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.774-11C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002090931] |
Chr3:123734233 [GRCh38] Chr3:123453080 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5501-11_5501-10del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV002206718] |
Chr3:123614359..123614360 [GRCh38] Chr3:123333206..123333207 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2190del (p.Thr731fs) |
deletion |
not provided [RCV002224576] |
Chr3:123707954 [GRCh38] Chr3:123426801 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.2391-20T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002109327] |
Chr3:123701529 [GRCh38] Chr3:123420376 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.374-20A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002188318] |
Chr3:123740021 [GRCh38] Chr3:123458868 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2463-12C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002144825] |
Chr3:123701017 [GRCh38] Chr3:123419864 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4416-14C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002111581]|not specified [RCV003331297] |
Chr3:123647441 [GRCh38] Chr3:123366288 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.576C>A (p.Val192=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002152864] |
Chr3:123738909 [GRCh38] Chr3:123457756 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5307C>A (p.Gly1769=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002174788] |
Chr3:123620268 [GRCh38] Chr3:123339115 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4416-18T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002196732] |
Chr3:123647445 [GRCh38] Chr3:123366292 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1002G>A (p.Gln334=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002104923] |
Chr3:123733994 [GRCh38] Chr3:123452841 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5136G>A (p.Gln1712=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002170856] |
Chr3:123626920 [GRCh38] Chr3:123345767 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2390+1G>A |
single nucleotide variant |
not provided [RCV002224697] |
Chr3:123707753 [GRCh38] Chr3:123426600 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.188_189del (p.Gln63fs) |
deletion |
not provided [RCV002223446] |
Chr3:123752515..123752516 [GRCh38] Chr3:123471362..123471363 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.60T>C (p.Asp20=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002193946] |
Chr3:123793782 [GRCh38] Chr3:123512629 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5244G>A (p.Thr1748=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002150362] |
Chr3:123620331 [GRCh38] Chr3:123339178 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.755-12_755-11insT |
insertion |
Aortic aneurysm, familial thoracic 7 [RCV002195149] |
Chr3:123735427..123735428 [GRCh38] Chr3:123454274..123454275 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4161C>T (p.Thr1387=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002212096] |
Chr3:123657253 [GRCh38] Chr3:123376100 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5430T>C (p.Tyr1810=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002169510] |
Chr3:123618709 [GRCh38] Chr3:123337556 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5643C>G (p.Thr1881=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002173953] |
Chr3:123614207 [GRCh38] Chr3:123333054 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2390+9G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002090122] |
Chr3:123707745 [GRCh38] Chr3:123426592 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1878G>C (p.Leu626=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002210568] |
Chr3:123709820 [GRCh38] Chr3:123428667 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3704-14C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002135065] |
Chr3:123666360 [GRCh38] Chr3:123385207 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1404C>T (p.Gly468=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002117157] |
Chr3:123733008 [GRCh38] Chr3:123451855 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5369-20TCT[2] |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV002175138]|Aortic aneurysm, familial thoracic 7 [RCV002494067] |
Chr3:123618782..123618784 [GRCh38] Chr3:123337629..123337631 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4827C>G (p.Ala1609=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002150947] |
Chr3:123640297 [GRCh38] Chr3:123359144 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1548C>T (p.Phe516=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002090930] |
Chr3:123726047 [GRCh38] Chr3:123444894 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4914C>T (p.Ile1638=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002115145]|Familial thoracic aortic aneurysm and aortic dissection [RCV002337282] |
Chr3:123638118 [GRCh38] Chr3:123356965 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2391-22_2391-13del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV002215160] |
Chr3:123701522..123701531 [GRCh38] Chr3:123420369..123420378 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2103T>G (p.Ala701=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002147768] |
Chr3:123708735 [GRCh38] Chr3:123427582 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4146C>T (p.Ala1382=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002094716] |
Chr3:123657268 [GRCh38] Chr3:123376115 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2226C>T (p.Cys742=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002110128]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161574] |
Chr3:123707918 [GRCh38] Chr3:123426765 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2148C>T (p.His716=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002112974]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307950] |
Chr3:123707996 [GRCh38] Chr3:123426843 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1025C>G (p.Ser342Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002505881]|not provided [RCV002214302] |
Chr3:123733971 [GRCh38] Chr3:123452818 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.885G>A (p.Lys295=) |
single nucleotide variant |
not provided [RCV002214303] |
Chr3:123734111 [GRCh38] Chr3:123452958 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4020C>G (p.Ala1340=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002172655]|Familial thoracic aortic aneurysm and aortic dissection [RCV002372844] |
Chr3:123657394 [GRCh38] Chr3:123376241 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1341G>A (p.Trp447Ter) |
single nucleotide variant |
not provided [RCV002224379] |
Chr3:123733071 [GRCh38] Chr3:123451918 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.1805-17T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002199362] |
Chr3:123709910 [GRCh38] Chr3:123428757 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1476C>T (p.Ala492=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002101672] |
Chr3:123732936 [GRCh38] Chr3:123451783 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.792A>G (p.Thr264=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002104083] |
Chr3:123734204 [GRCh38] Chr3:123453051 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2141-19G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002100154]|not provided [RCV003120815] |
Chr3:123708022 [GRCh38] Chr3:123426869 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2390+20C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002137666] |
Chr3:123707734 [GRCh38] Chr3:123426581 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2835G>A (p.Val945=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003089150]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434603]|not specified [RCV002222955] |
Chr3:123700633 [GRCh38] Chr3:123419480 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1998A>G (p.Ser666=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002199752] |
Chr3:123708840 [GRCh38] Chr3:123427687 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.384G>A (p.Ala128=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002182937]|Familial thoracic aortic aneurysm and aortic dissection [RCV002361439] |
Chr3:123739991 [GRCh38] Chr3:123458838 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.897C>T (p.Ser299=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002200045] |
Chr3:123734099 [GRCh38] Chr3:123452946 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5076C>A (p.Ala1692=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002179407] |
Chr3:123629512 [GRCh38] Chr3:123348359 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4875A>G (p.Pro1625=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002216943] |
Chr3:123638157 [GRCh38] Chr3:123357004 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3639G>C (p.Val1213=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002137866] |
Chr3:123682237 [GRCh38] Chr3:123401084 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2391-16C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002082741]|not specified [RCV003235668] |
Chr3:123701525 [GRCh38] Chr3:123420372 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.4321+13_4321+14del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV002081253] |
Chr3:123649148..123649149 [GRCh38] Chr3:123367995..123367996 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.423-20C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002142551] |
Chr3:123739082 [GRCh38] Chr3:123457929 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3420C>T (p.Thr1140=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002141047] |
Chr3:123700048 [GRCh38] Chr3:123418895 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2550G>A (p.Arg850=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002155041] |
Chr3:123700918 [GRCh38] Chr3:123419765 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3566-19G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002217550] |
Chr3:123682329 [GRCh38] Chr3:123401176 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2463-7G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002119497] |
Chr3:123701012 [GRCh38] Chr3:123419859 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4459C>A (p.Arg1487=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002202089] |
Chr3:123647384 [GRCh38] Chr3:123366231 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3227A>C (p.Asn1076Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002221413] |
Chr3:123700241 [GRCh38] Chr3:123419088 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2463-15C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002154910] |
Chr3:123701020 [GRCh38] Chr3:123419867 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3195A>G (p.Glu1065=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002100947] |
Chr3:123700273 [GRCh38] Chr3:123419120 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2055G>T (p.Val685=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002122365] |
Chr3:123708783 [GRCh38] Chr3:123427630 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2140+11C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002119158] |
Chr3:123708687 [GRCh38] Chr3:123427534 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2868C>T (p.Val956=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003114884] |
Chr3:123700600 [GRCh38] Chr3:123419447 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.754+6_754+7insT |
insertion |
Aortic aneurysm, familial thoracic 7 [RCV003116195] |
Chr3:123737371..123737372 [GRCh38] Chr3:123456218..123456219 [GRCh37] Chr3:3q21.1 |
likely benign |
NC_000003.11:g.(?_121489192)_(125313644_?)dup |
duplication |
Familial hypocalciuric hypercalcemia [RCV003111142] |
Chr3:121489192..125313644 [GRCh37] Chr3:3q13.33-21.2 |
uncertain significance |
NM_053025.4(MYLK):c.996C>G (p.Ala332=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003115729] |
Chr3:123734000 [GRCh38] Chr3:123452847 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.27G>A (p.Ser9=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003115137] |
Chr3:123793815 [GRCh38] Chr3:123512662 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1713G>A (p.Gln571=) |
single nucleotide variant |
not provided [RCV003120125] |
Chr3:123722219 [GRCh38] Chr3:123441066 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4691A>G (p.Lys1564Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003118616] |
Chr3:123640433 [GRCh38] Chr3:123359280 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1456A>G (p.Ser486Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003118625] |
Chr3:123732956 [GRCh38] Chr3:123451803 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NC_000003.11:g.(?_123003455)_(123512688_?)del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV003122993] |
Chr3:123003455..123512688 [GRCh37] Chr3:3q21.1 |
pathogenic |
NC_000003.11:g.(?_123401058)_(123401181_?)dup |
duplication |
Aortic aneurysm, familial thoracic 7 [RCV003122994] |
Chr3:123401058..123401181 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NC_000003.11:g.(?_123003455)_(125313644_?)dup |
duplication |
Aortic aneurysm, familial thoracic 7 [RCV003122995] |
Chr3:123003455..125313644 [GRCh37] Chr3:3q21.1-21.2 |
uncertain significance |
NM_053025.4(MYLK):c.1060C>T (p.Pro354Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003121488]|Familial thoracic aortic aneurysm and aortic dissection [RCV003341533] |
Chr3:123733936 [GRCh38] Chr3:123452783 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4012C>T (p.Pro1338Ser) |
single nucleotide variant |
not provided [RCV003156540] |
Chr3:123657402 [GRCh38] Chr3:123376249 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3283G>A (p.Gly1095Arg) |
single nucleotide variant |
not provided [RCV003152039] |
Chr3:123700185 [GRCh38] Chr3:123419032 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.472del (p.Glu158fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV003094156]|See cases [RCV002252570] |
Chr3:123739013 [GRCh38] Chr3:123457860 [GRCh37] Chr3:3q21.1 |
likely pathogenic|uncertain significance |
NM_053025.4(MYLK):c.4807C>G (p.Leu1603Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278413] |
Chr3:123640317 [GRCh38] Chr3:123359164 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2453C>T (p.Ala818Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278416] |
Chr3:123701447 [GRCh38] Chr3:123420294 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.33C>A (p.His11Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002452017] |
Chr3:123793809 [GRCh38] Chr3:123512656 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2617C>T (p.Leu873=) |
single nucleotide variant |
not provided [RCV002263332] |
Chr3:123700851 [GRCh38] Chr3:123419698 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.373+4A>T |
single nucleotide variant |
not provided [RCV002267512] |
Chr3:123752327 [GRCh38] Chr3:123471174 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3712C>T (p.Pro1238Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002294591] |
Chr3:123666338 [GRCh38] Chr3:123385185 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1556T>C (p.Val519Ala) |
single nucleotide variant |
not provided [RCV002261745] |
Chr3:123726039 [GRCh38] Chr3:123444886 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2849A>G (p.Gln950Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002435329] |
Chr3:123700619 [GRCh38] Chr3:123419466 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.899C>G (p.Pro300Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003096323]|not provided [RCV002281243] |
Chr3:123734097 [GRCh38] Chr3:123452944 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2707A>C (p.Lys903Gln) |
single nucleotide variant |
not provided [RCV003236234] |
Chr3:123700761 [GRCh38] Chr3:123419608 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2654A>C (p.Glu885Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003102076]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453085] |
Chr3:123700814 [GRCh38] Chr3:123419661 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2866G>A (p.Val956Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002437626]|not provided [RCV003322920] |
Chr3:123700602 [GRCh38] Chr3:123419449 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4963G>A (p.Val1655Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002351341] |
Chr3:123629625 [GRCh38] Chr3:123348472 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3578G>T (p.Ser1193Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002455051] |
Chr3:123682298 [GRCh38] Chr3:123401145 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3654T>C (p.Ser1218=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002452503] |
Chr3:123667186 [GRCh38] Chr3:123386033 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5460T>C (p.Val1820=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002349723] |
Chr3:123618679 [GRCh38] Chr3:123337526 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2231T>C (p.Ile744Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002420142] |
Chr3:123707913 [GRCh38] Chr3:123426760 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.543C>T (p.Ser181=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002349595] |
Chr3:123738942 [GRCh38] Chr3:123457789 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2040T>C (p.Leu680=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002419930] |
Chr3:123708798 [GRCh38] Chr3:123427645 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2725A>T (p.Thr909Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002453221] |
Chr3:123700743 [GRCh38] Chr3:123419590 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.272T>C (p.Leu91Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002437476] |
Chr3:123752432 [GRCh38] Chr3:123471279 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.269G>A (p.Ser90Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002437380] |
Chr3:123752435 [GRCh38] Chr3:123471282 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.811G>T (p.Val271Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002421290] |
Chr3:123734185 [GRCh38] Chr3:123453032 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.70G>T (p.Val24Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002367366] |
Chr3:123793772 [GRCh38] Chr3:123512619 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2658G>A (p.Ala886=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002453114] |
Chr3:123700810 [GRCh38] Chr3:123419657 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.2637G>A (p.Thr879=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003102053]|Familial thoracic aortic aneurysm and aortic dissection [RCV002452953] |
Chr3:123700831 [GRCh38] Chr3:123419678 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.626T>G (p.Val209Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002368656] |
Chr3:123737506 [GRCh38] Chr3:123456353 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2731T>C (p.Ser911Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002437490] |
Chr3:123700737 [GRCh38] Chr3:123419584 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3704-3C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002348949] |
Chr3:123666349 [GRCh38] Chr3:123385196 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3569C>T (p.Ala1190Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002454972] |
Chr3:123682307 [GRCh38] Chr3:123401154 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.356T>C (p.Val119Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002454996] |
Chr3:123752348 [GRCh38] Chr3:123471195 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2739C>A (p.Asp913Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002437564]|not provided [RCV003235725] |
Chr3:123700729 [GRCh38] Chr3:123419576 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.5002G>A (p.Glu1668Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002351375] |
Chr3:123629586 [GRCh38] Chr3:123348433 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3653-2A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002452495] |
Chr3:123667189 [GRCh38] Chr3:123386036 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.329A>G (p.Asn110Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002454666] |
Chr3:123752375 [GRCh38] Chr3:123471222 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5513C>T (p.Pro1838Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002351740] |
Chr3:123614337 [GRCh38] Chr3:123333184 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1229A>G (p.Asp410Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003281771] |
Chr3:123733767 [GRCh38] Chr3:123452614 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3458G>A (p.Cys1153Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003300934] |
Chr3:123692842 [GRCh38] Chr3:123411689 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3160A>C (p.Lys1054Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003299456] |
Chr3:123700308 [GRCh38] Chr3:123419155 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5732A>T (p.Glu1911Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347735] |
Chr3:123614118 [GRCh38] Chr3:123332965 [GRCh37] Chr3:3q21.1 |
uncertain significance |
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 |
copy number gain |
not provided [RCV002472621] |
Chr3:116620308..172042292 [GRCh37] Chr3:3q13.31-26.31 |
pathogenic |
NM_053025.4(MYLK):c.1309G>T (p.Val437Phe) |
single nucleotide variant |
not provided [RCV002302631] |
Chr3:123733687 [GRCh38] Chr3:123452534 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2110G>A (p.Val704Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002417487] |
Chr3:123708728 [GRCh38] Chr3:123427575 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3751G>A (p.Ala1251Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002569357]|Familial thoracic aortic aneurysm and aortic dissection [RCV003164728]|not provided [RCV002467188] |
Chr3:123666299 [GRCh38] Chr3:123385146 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.561G>A (p.Arg187=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003096814]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345010] |
Chr3:123738924 [GRCh38] Chr3:123457771 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1944G>T (p.Gly648=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002413232] |
Chr3:123708894 [GRCh38] Chr3:123427741 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2125G>C (p.Val709Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002417691] |
Chr3:123708713 [GRCh38] Chr3:123427560 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5138G>A (p.Cys1713Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002338188] |
Chr3:123626918 [GRCh38] Chr3:123345765 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.890G>C (p.Cys297Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002298112] |
Chr3:123734106 [GRCh38] Chr3:123452953 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3893T>C (p.Leu1298Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003094431]|Familial thoracic aortic aneurysm and aortic dissection [RCV002357419] |
Chr3:123664197 [GRCh38] Chr3:123383044 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3249G>T (p.Gly1083=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002324857] |
Chr3:123700219 [GRCh38] Chr3:123419066 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.640G>A (p.Gly214Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003120945]|Familial thoracic aortic aneurysm and aortic dissection [RCV002361619] |
Chr3:123737492 [GRCh38] Chr3:123456339 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.617G>A (p.Arg206His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003103273]|Familial thoracic aortic aneurysm and aortic dissection [RCV002353766]|not provided [RCV003128863] |
Chr3:123737515 [GRCh38] Chr3:123456362 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2080A>G (p.Thr694Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002295256] |
Chr3:123708758 [GRCh38] Chr3:123427605 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2931C>T (p.Ala977=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002440074] |
Chr3:123700537 [GRCh38] Chr3:123419384 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2081C>A (p.Thr694Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002423880] |
Chr3:123708757 [GRCh38] Chr3:123427604 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3849C>T (p.His1283=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002355464] |
Chr3:123664241 [GRCh38] Chr3:123383088 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.72T>G (p.Val24=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002380009] |
Chr3:123793770 [GRCh38] Chr3:123512617 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3463G>T (p.Val1155Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002337482] |
Chr3:123692837 [GRCh38] Chr3:123411684 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4849T>C (p.Ser1617Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340262] |
Chr3:123638183 [GRCh38] Chr3:123357030 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3333G>A (p.Glu1111=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002326506] |
Chr3:123700135 [GRCh38] Chr3:123418982 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1085G>A (p.Gly362Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002425609] |
Chr3:123733911 [GRCh38] Chr3:123452758 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3131C>T (p.Ala1044Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002295217] |
Chr3:123700337 [GRCh38] Chr3:123419184 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2690T>C (p.Phe897Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002428944] |
Chr3:123700778 [GRCh38] Chr3:123419625 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3285del (p.Thr1096fs) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV002445797] |
Chr3:123700183 [GRCh38] Chr3:123419030 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1223A>G (p.Gln408Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002361824] |
Chr3:123733773 [GRCh38] Chr3:123452620 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.916C>G (p.Pro306Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002378856] |
Chr3:123734080 [GRCh38] Chr3:123452927 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4659G>T (p.Glu1553Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002330473] |
Chr3:123640465 [GRCh38] Chr3:123359312 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2911G>C (p.Val971Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003102868]|Familial thoracic aortic aneurysm and aortic dissection [RCV002439838] |
Chr3:123700557 [GRCh38] Chr3:123419404 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4109T>C (p.Ile1370Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002323391] |
Chr3:123657305 [GRCh38] Chr3:123376152 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4504G>A (p.Glu1502Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002339862] |
Chr3:123647339 [GRCh38] Chr3:123366186 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.240G>T (p.Leu80=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459725] |
Chr3:123752464 [GRCh38] Chr3:123471311 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1141A>G (p.Thr381Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002457070] |
Chr3:123733855 [GRCh38] Chr3:123452702 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.355G>A (p.Val119Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002339776] |
Chr3:123752349 [GRCh38] Chr3:123471196 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3565+4G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002339802] |
Chr3:123692731 [GRCh38] Chr3:123411578 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1155G>A (p.Arg385=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003094380]|Familial thoracic aortic aneurysm and aortic dissection [RCV002355288] |
Chr3:123733841 [GRCh38] Chr3:123452688 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4532G>C (p.Ser1511Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340060] |
Chr3:123647311 [GRCh38] Chr3:123366158 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2792G>T (p.Arg931Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002441442] |
Chr3:123700676 [GRCh38] Chr3:123419523 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.389A>C (p.Gln130Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002357442] |
Chr3:123739986 [GRCh38] Chr3:123458833 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2318A>G (p.Asn773Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003101737]|Familial thoracic aortic aneurysm and aortic dissection [RCV002448074] |
Chr3:123707826 [GRCh38] Chr3:123426673 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3091C>T (p.Pro1031Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002325811] |
Chr3:123700377 [GRCh38] Chr3:123419224 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1758G>C (p.Glu586Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002407580] |
Chr3:123722174 [GRCh38] Chr3:123441021 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.620T>C (p.Val207Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002353867] |
Chr3:123737512 [GRCh38] Chr3:123456359 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1390T>G (p.Tyr464Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003103669]|Familial thoracic aortic aneurysm and aortic dissection [RCV002396685] |
Chr3:123733022 [GRCh38] Chr3:123451869 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1586A>G (p.Gln529Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002398314] |
Chr3:123726009 [GRCh38] Chr3:123444856 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5193C>T (p.Leu1731=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003096645]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338523] |
Chr3:123626863 [GRCh38] Chr3:123345710 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1631G>C (p.Arg544Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002401299] |
Chr3:123725964 [GRCh38] Chr3:123444811 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2597G>A (p.Gly866Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002426183] |
Chr3:123700871 [GRCh38] Chr3:123419718 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1178A>G (p.Asp393Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002339995] |
Chr3:123733818 [GRCh38] Chr3:123452665 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.839C>G (p.Ser280Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002434876] |
Chr3:123734157 [GRCh38] Chr3:123453004 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2417A>G (p.Gln806Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459758] |
Chr3:123701483 [GRCh38] Chr3:123420330 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.344G>T (p.Arg115Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002457195] |
Chr3:123752360 [GRCh38] Chr3:123471207 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1072G>A (p.Ala358Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002423799] |
Chr3:123733924 [GRCh38] Chr3:123452771 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3584A>G (p.Asn1195Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002460285] |
Chr3:123682292 [GRCh38] Chr3:123401139 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1651G>A (p.Gly551Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002403668]|not provided [RCV003149031] |
Chr3:123725944 [GRCh38] Chr3:123444791 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2053G>A (p.Val685Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002421853] |
Chr3:123708785 [GRCh38] Chr3:123427632 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3289G>A (p.Ala1097Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002299013]|Familial thoracic aortic aneurysm and aortic dissection [RCV002443298] |
Chr3:123700179 [GRCh38] Chr3:123419026 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3149T>C (p.Met1050Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003099239]|Familial thoracic aortic aneurysm and aortic dissection [RCV002320787]|not provided [RCV003443030] |
Chr3:123700319 [GRCh38] Chr3:123419166 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3339G>C (p.Lys1113Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002326553] |
Chr3:123700129 [GRCh38] Chr3:123418976 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2534G>C (p.Arg845Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002433194] |
Chr3:123700934 [GRCh38] Chr3:123419781 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4551C>T (p.His1517=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340166] |
Chr3:123647292 [GRCh38] Chr3:123366139 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2551C>T (p.Pro851Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002455825] |
Chr3:123700917 [GRCh38] Chr3:123419764 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3319G>A (p.Val1107Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002326361] |
Chr3:123700149 [GRCh38] Chr3:123418996 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3078G>C (p.Val1026=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002319846] |
Chr3:123700390 [GRCh38] Chr3:123419237 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1670C>T (p.Ala557Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003097093]|Familial thoracic aortic aneurysm and aortic dissection [RCV002395123] |
Chr3:123722262 [GRCh38] Chr3:123441109 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3902G>T (p.Arg1301Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002373098] |
Chr3:123664188 [GRCh38] Chr3:123383035 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3927_3929del (p.Leu1311del) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV002373201] |
Chr3:123664161..123664163 [GRCh38] Chr3:123383008..123383010 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5243C>T (p.Thr1748Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340912] |
Chr3:123620332 [GRCh38] Chr3:123339179 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1651+8C>T |
single nucleotide variant |
not specified [RCV002302584] |
Chr3:123725936 [GRCh38] Chr3:123444783 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.5323G>C (p.Gly1775Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002346799] |
Chr3:123620252 [GRCh38] Chr3:123339099 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4361T>A (p.Ile1454Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002332357] |
Chr3:123649025 [GRCh38] Chr3:123367872 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4996G>A (p.Asp1666Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342969] |
Chr3:123629592 [GRCh38] Chr3:123348439 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4569G>A (p.Gln1523=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340240] |
Chr3:123647274 [GRCh38] Chr3:123366121 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5709G>C (p.Glu1903Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347596] |
Chr3:123614141 [GRCh38] Chr3:123332988 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1480G>T (p.Gly494Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002397138] |
Chr3:123732932 [GRCh38] Chr3:123451779 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4857G>A (p.Lys1619=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340311] |
Chr3:123638175 [GRCh38] Chr3:123357022 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5664T>G (p.Leu1888=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347333] |
Chr3:123614186 [GRCh38] Chr3:123333033 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.209G>A (p.Gly70Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002424177] |
Chr3:123752495 [GRCh38] Chr3:123471342 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4320T>C (p.Asp1440=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002332038] |
Chr3:123649163 [GRCh38] Chr3:123368010 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.232C>T (p.Arg78Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002448193] |
Chr3:123752472 [GRCh38] Chr3:123471319 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.15G>C (p.Lys5Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002298955] |
Chr3:123793827 [GRCh38] Chr3:123512674 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1743C>T (p.Tyr581=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002401438] |
Chr3:123722189 [GRCh38] Chr3:123441036 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4013C>G (p.Pro1338Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002359427] |
Chr3:123657401 [GRCh38] Chr3:123376248 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4568A>G (p.Gln1523Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340228] |
Chr3:123647275 [GRCh38] Chr3:123366122 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5213A>G (p.Lys1738Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344275] |
Chr3:123626843 [GRCh38] Chr3:123345690 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3917G>C (p.Gly1306Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002373158] |
Chr3:123664173 [GRCh38] Chr3:123383020 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3918C>T (p.Gly1306=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002373162] |
Chr3:123664172 [GRCh38] Chr3:123383019 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2350G>T (p.Val784Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002448405] |
Chr3:123707794 [GRCh38] Chr3:123426641 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4276G>C (p.Glu1426Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002330069] |
Chr3:123657138 [GRCh38] Chr3:123375985 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5402C>T (p.Ala1801Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347278] |
Chr3:123618737 [GRCh38] Chr3:123337584 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5403T>G (p.Ala1801=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347283] |
Chr3:123618736 [GRCh38] Chr3:123337583 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5313A>G (p.Lys1771=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344666] |
Chr3:123620262 [GRCh38] Chr3:123339109 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.96C>G (p.Ala32=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002376639] |
Chr3:123793746 [GRCh38] Chr3:123512593 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.390G>C (p.Gln130His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002373132] |
Chr3:123739985 [GRCh38] Chr3:123458832 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4014T>G (p.Pro1338=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002359440] |
Chr3:123657400 [GRCh38] Chr3:123376247 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.52A>G (p.Ser18Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344575] |
Chr3:123793790 [GRCh38] Chr3:123512637 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1878G>T (p.Leu626=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002415245] |
Chr3:123709820 [GRCh38] Chr3:123428667 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4086T>C (p.Ala1362=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002323156] |
Chr3:123657328 [GRCh38] Chr3:123376175 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4620C>T (p.Ile1540=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002330377] |
Chr3:123640504 [GRCh38] Chr3:123359351 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2975C>G (p.Pro992Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002442137] |
Chr3:123700493 [GRCh38] Chr3:123419340 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3083A>G (p.Asn1028Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002319900] |
Chr3:123700385 [GRCh38] Chr3:123419232 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.21T>C (p.Val7=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002425727] |
Chr3:123793821 [GRCh38] Chr3:123512668 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1572T>A (p.Ala524=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002405674] |
Chr3:123726023 [GRCh38] Chr3:123444870 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4678C>T (p.Arg1560Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002330525] |
Chr3:123640446 [GRCh38] Chr3:123359293 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5605A>G (p.Ile1869Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344923] |
Chr3:123614245 [GRCh38] Chr3:123333092 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1843G>A (p.Val615Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002412889] |
Chr3:123709855 [GRCh38] Chr3:123428702 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2286C>T (p.Cys762=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002446160] |
Chr3:123707858 [GRCh38] Chr3:123426705 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5625T>G (p.Asp1875Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002345047] |
Chr3:123614225 [GRCh38] Chr3:123333072 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5629G>T (p.Asp1877Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002345055] |
Chr3:123614221 [GRCh38] Chr3:123333068 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.184C>G (p.Pro62Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002412986] |
Chr3:123752520 [GRCh38] Chr3:123471367 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3130G>C (p.Ala1044Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002320596] |
Chr3:123700338 [GRCh38] Chr3:123419185 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.883A>G (p.Lys295Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002449817] |
Chr3:123734113 [GRCh38] Chr3:123452960 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1538C>T (p.Ala513Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003095302]|Familial thoracic aortic aneurysm and aortic dissection [RCV002403080] |
Chr3:123726057 [GRCh38] Chr3:123444904 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5642C>T (p.Thr1881Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002345133] |
Chr3:123614208 [GRCh38] Chr3:123333055 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4720G>A (p.Glu1574Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002335413] |
Chr3:123640404 [GRCh38] Chr3:123359251 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3134A>G (p.Glu1045Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002320625] |
Chr3:123700334 [GRCh38] Chr3:123419181 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5017G>A (p.Val1673Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003096567]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343127] |
Chr3:123629571 [GRCh38] Chr3:123348418 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3995A>T (p.Asp1332Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002321146] |
Chr3:123657419 [GRCh38] Chr3:123376266 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2726C>G (p.Thr909Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002302841] |
Chr3:123700742 [GRCh38] Chr3:123419589 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1641G>C (p.Trp547Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002403563] |
Chr3:123725954 [GRCh38] Chr3:123444801 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.585C>T (p.Leu195=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002353389] |
Chr3:123738900 [GRCh38] Chr3:123457747 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1607C>G (p.Ser536Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002392683] |
Chr3:123725988 [GRCh38] Chr3:123444835 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.852G>T (p.Lys284Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002414436] |
Chr3:123734144 [GRCh38] Chr3:123452991 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4635G>A (p.Glu1545=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342579] |
Chr3:123640489 [GRCh38] Chr3:123359336 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.290A>G (p.His97Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003102865]|Familial thoracic aortic aneurysm and aortic dissection [RCV002439804] |
Chr3:123752414 [GRCh38] Chr3:123471261 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.5041G>A (p.Asp1681Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002335668] |
Chr3:123629547 [GRCh38] Chr3:123348394 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1382T>C (p.Ile461Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002381201] |
Chr3:123733030 [GRCh38] Chr3:123451877 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5238+13T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003013768] |
Chr3:123626805 [GRCh38] Chr3:123345652 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1797C>T (p.Thr599=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003074177] |
Chr3:123722135 [GRCh38] Chr3:123440982 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4415C>T (p.Ser1472Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002616171] |
Chr3:123648971 [GRCh38] Chr3:123367818 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.169C>G (p.Arg57Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002979821]|Inborn genetic diseases [RCV002995654] |
Chr3:123752535 [GRCh38] Chr3:123471382 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1651+8C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002994768] |
Chr3:123725936 [GRCh38] Chr3:123444783 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.198G>A (p.Trp66Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002730849] |
Chr3:123752506 [GRCh38] Chr3:123471353 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4453A>G (p.Lys1485Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002880856] |
Chr3:123647390 [GRCh38] Chr3:123366237 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3095C>T (p.Ala1032Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002730853] |
Chr3:123700373 [GRCh38] Chr3:123419220 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4024G>A (p.Asp1342Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002751831] |
Chr3:123657390 [GRCh38] Chr3:123376237 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1076_1077dup (p.Gly360fs) |
duplication |
Aortic aneurysm, familial thoracic 7 [RCV002880607] |
Chr3:123733918..123733919 [GRCh38] Chr3:123452765..123452766 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3751G>T (p.Ala1251Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003074656] |
Chr3:123666299 [GRCh38] Chr3:123385146 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2965A>T (p.Lys989Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002843539] |
Chr3:123700503 [GRCh38] Chr3:123419350 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.4262T>C (p.Leu1421Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002819802] |
Chr3:123657152 [GRCh38] Chr3:123375999 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2115C>T (p.Arg705=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002974942] |
Chr3:123708723 [GRCh38] Chr3:123427570 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.232C>G (p.Arg78Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003076880]|Familial thoracic aortic aneurysm and aortic dissection [RCV003349004] |
Chr3:123752472 [GRCh38] Chr3:123471319 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3086C>A (p.Ala1029Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002778492] |
Chr3:123700382 [GRCh38] Chr3:123419229 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.165+10G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002755976] |
Chr3:123793667 [GRCh38] Chr3:123512514 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4962-13C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002996564] |
Chr3:123629639 [GRCh38] Chr3:123348486 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3876_3937del (p.Ser1293fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV002880225] |
Chr3:123664153..123664214 [GRCh38] Chr3:123383000..123383061 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.4493A>G (p.Tyr1498Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003032759] |
Chr3:123647350 [GRCh38] Chr3:123366197 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2462+6T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002842331] |
Chr3:123701432 [GRCh38] Chr3:123420279 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.822G>T (p.Glu274Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003014399] |
Chr3:123734174 [GRCh38] Chr3:123453021 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1782C>T (p.Cys594=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003095833] |
Chr3:123722150 [GRCh38] Chr3:123440997 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3704-15C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002996017] |
Chr3:123666361 [GRCh38] Chr3:123385208 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3109C>G (p.Pro1037Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002904817] |
Chr3:123700359 [GRCh38] Chr3:123419206 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1939T>C (p.Ser647Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003015058] |
Chr3:123709759 [GRCh38] Chr3:123428606 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5715_5720del (p.1905GE[2]) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV002903983] |
Chr3:123614130..123614135 [GRCh38] Chr3:123332977..123332982 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3832-7C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002616466] |
Chr3:123664265 [GRCh38] Chr3:123383112 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4644G>A (p.Glu1548=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003076711]|not specified [RCV003331423] |
Chr3:123640480 [GRCh38] Chr3:123359327 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5273T>C (p.Leu1758Pro) |
single nucleotide variant |
not provided [RCV002462486] |
Chr3:123620302 [GRCh38] Chr3:123339149 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2395C>T (p.Arg799Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002793955]|not provided [RCV003128886] |
Chr3:123701505 [GRCh38] Chr3:123420352 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2395C>A (p.Arg799=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003076608] |
Chr3:123701505 [GRCh38] Chr3:123420352 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4773C>T (p.Ile1591=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002843453] |
Chr3:123640351 [GRCh38] Chr3:123359198 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.443C>T (p.Ala148Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002731479] |
Chr3:123739042 [GRCh38] Chr3:123457889 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2237G>A (p.Gly746Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002623057] |
Chr3:123707907 [GRCh38] Chr3:123426754 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2140+6G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002914145] |
Chr3:123708692 [GRCh38] Chr3:123427539 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2021G>T (p.Arg674Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002870165] |
Chr3:123708817 [GRCh38] Chr3:123427664 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4289-5C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002998766] |
Chr3:123649199 [GRCh38] Chr3:123368046 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4575G>A (p.Val1525=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002871538] |
Chr3:123647268 [GRCh38] Chr3:123366115 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1403G>A (p.Gly468Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003081734]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161713]|not specified [RCV003324071] |
Chr3:123733009 [GRCh38] Chr3:123451856 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2210G>A (p.Ser737Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002621653] |
Chr3:123707934 [GRCh38] Chr3:123426781 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3986-19T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002640588] |
Chr3:123657447 [GRCh38] Chr3:123376294 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1778C>T (p.Ser593Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002637580] |
Chr3:123722154 [GRCh38] Chr3:123441001 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2411G>A (p.Ser804Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002825282] |
Chr3:123701489 [GRCh38] Chr3:123420336 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.166-8del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV002800430] |
Chr3:123752546 [GRCh38] Chr3:123471393 [GRCh37] Chr3:3q21.1 |
benign |
NM_053025.4(MYLK):c.5006C>T (p.Thr1669Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002909943] |
Chr3:123629582 [GRCh38] Chr3:123348429 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.932A>G (p.Asn311Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003002834]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382985]|not provided [RCV003151906] |
Chr3:123734064 [GRCh38] Chr3:123452911 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3781G>A (p.Val1261Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002953677] |
Chr3:123666269 [GRCh38] Chr3:123385116 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2681A>G (p.Gln894Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003079260]|Familial thoracic aortic aneurysm and aortic dissection [RCV003294456] |
Chr3:123700787 [GRCh38] Chr3:123419634 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1673G>C (p.Arg558Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002637738]|Familial thoracic aortic aneurysm and aortic dissection [RCV003341517] |
Chr3:123722259 [GRCh38] Chr3:123441106 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2829G>A (p.Arg943=) |
single nucleotide variant |
not specified [RCV002510270] |
Chr3:123700639 [GRCh38] Chr3:123419486 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2140+17C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003019474] |
Chr3:123708681 [GRCh38] Chr3:123427528 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.118C>T (p.Arg40Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003078972] |
Chr3:123793724 [GRCh38] Chr3:123512571 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3449-20C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002760921] |
Chr3:123692871 [GRCh38] Chr3:123411718 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1456A>T (p.Ser486Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003020681] |
Chr3:123732956 [GRCh38] Chr3:123451803 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5731G>T (p.Glu1911Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002658492] |
Chr3:123614119 [GRCh38] Chr3:123332966 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2529T>C (p.Ser843=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002736043] |
Chr3:123700939 [GRCh38] Chr3:123419786 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1258C>T (p.Pro420Ser) |
single nucleotide variant |
not provided [RCV002509933] |
Chr3:123733738 [GRCh38] Chr3:123452585 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5148T>A (p.His1716Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002925620] |
Chr3:123626908 [GRCh38] Chr3:123345755 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.724G>A (p.Ala242Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002619718] |
Chr3:123737408 [GRCh38] Chr3:123456255 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4978C>T (p.Pro1660Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003054031] |
Chr3:123629610 [GRCh38] Chr3:123348457 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2164T>G (p.Trp722Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002736423] |
Chr3:123707980 [GRCh38] Chr3:123426827 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2367C>T (p.Ala789=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002979744]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382982] |
Chr3:123707777 [GRCh38] Chr3:123426624 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1446T>C (p.Ser482=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002592887] |
Chr3:123732966 [GRCh38] Chr3:123451813 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3927A>G (p.Thr1309=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003019243] |
Chr3:123664163 [GRCh38] Chr3:123383010 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2814_2815del (p.Val938_Ser939insTer) |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV002659694] |
Chr3:123700653..123700654 [GRCh38] Chr3:123419500..123419501 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.773+16G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002912515]|not specified [RCV003324051] |
Chr3:123735382 [GRCh38] Chr3:123454229 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2818G>A (p.Glu940Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002760255] |
Chr3:123700650 [GRCh38] Chr3:123419497 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1865C>T (p.Ala622Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002592084] |
Chr3:123709833 [GRCh38] Chr3:123428680 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2687A>G (p.Asp896Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002638083] |
Chr3:123700781 [GRCh38] Chr3:123419628 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4578T>A (p.Asp1526Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003077881] |
Chr3:123647265 [GRCh38] Chr3:123366112 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5500+16G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002848142] |
Chr3:123618623 [GRCh38] Chr3:123337470 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.61_62delinsTA (p.Pro21Tyr) |
indel |
Aortic aneurysm, familial thoracic 7 [RCV003052983] |
Chr3:123793780..123793781 [GRCh38] Chr3:123512627..123512628 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3448+14G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002912894] |
Chr3:123700006 [GRCh38] Chr3:123418853 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1779C>T (p.Ser593=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002796046] |
Chr3:123722153 [GRCh38] Chr3:123441000 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4632G>A (p.Gly1544=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003054075] |
Chr3:123640492 [GRCh38] Chr3:123359339 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5211G>A (p.Lys1737=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003080378] |
Chr3:123626845 [GRCh38] Chr3:123345692 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3730C>T (p.Pro1244Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002927535] |
Chr3:123666320 [GRCh38] Chr3:123385167 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.422+14G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002781357] |
Chr3:123739939 [GRCh38] Chr3:123458786 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4169A>G (p.Asn1390Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003078381] |
Chr3:123657245 [GRCh38] Chr3:123376092 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2463-14T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002592477] |
Chr3:123701019 [GRCh38] Chr3:123419866 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1108dup (p.Glu370fs) |
duplication |
Aortic aneurysm, familial thoracic 7 [RCV003036813] |
Chr3:123733887..123733888 [GRCh38] Chr3:123452734..123452735 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2511T>A (p.Gly837=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002735614] |
Chr3:123700957 [GRCh38] Chr3:123419804 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1958A>G (p.Glu653Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002976429] |
Chr3:123708880 [GRCh38] Chr3:123427727 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4850C>A (p.Ser1617Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002637066] |
Chr3:123638182 [GRCh38] Chr3:123357029 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3324T>A (p.His1108Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002854414] |
Chr3:123700144 [GRCh38] Chr3:123418991 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.423-18C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002876066] |
Chr3:123739080 [GRCh38] Chr3:123457927 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1652-19T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002800801] |
Chr3:123722299 [GRCh38] Chr3:123441146 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4671G>T (p.Leu1557=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003024974] |
Chr3:123640453 [GRCh38] Chr3:123359300 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4620-13C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003058740] |
Chr3:123640517 [GRCh38] Chr3:123359364 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2121G>C (p.Gln707His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003085404] |
Chr3:123708717 [GRCh38] Chr3:123427564 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3703+13G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002890433] |
Chr3:123667124 [GRCh38] Chr3:123385971 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4468T>C (p.Trp1490Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002853895] |
Chr3:123647375 [GRCh38] Chr3:123366222 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5494A>T (p.Ile1832Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002829785] |
Chr3:123618645 [GRCh38] Chr3:123337492 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5031C>G (p.Thr1677=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002919187] |
Chr3:123629557 [GRCh38] Chr3:123348404 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.18G>A (p.Leu6=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003083131] |
Chr3:123793824 [GRCh38] Chr3:123512671 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1854C>G (p.Ser618Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003024202] |
Chr3:123709844 [GRCh38] Chr3:123428691 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2390+8T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002740993] |
Chr3:123707746 [GRCh38] Chr3:123426593 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.856G>C (p.Asp286His) |
single nucleotide variant |
Inborn genetic diseases [RCV002891587] |
Chr3:123734140 [GRCh38] Chr3:123452987 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3907G>C (p.Glu1303Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002664201] |
Chr3:123664183 [GRCh38] Chr3:123383030 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.461G>C (p.Ser154Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002928224] |
Chr3:123739024 [GRCh38] Chr3:123457871 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3869A>C (p.Glu1290Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002801795] |
Chr3:123664221 [GRCh38] Chr3:123383068 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.431T>G (p.Phe144Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002928226] |
Chr3:123739054 [GRCh38] Chr3:123457901 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2394C>A (p.Asn798Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002790425] |
Chr3:123701506 [GRCh38] Chr3:123420353 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1259C>T (p.Pro420Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003085713]|not provided [RCV003320913] |
Chr3:123733737 [GRCh38] Chr3:123452584 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3626C>T (p.Ser1209Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002595495]|Inborn genetic diseases [RCV003377889] |
Chr3:123682250 [GRCh38] Chr3:123401097 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4359A>T (p.Thr1453=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002710564] |
Chr3:123649027 [GRCh38] Chr3:123367874 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1692C>T (p.Gly564=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002625295] |
Chr3:123722240 [GRCh38] Chr3:123441087 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2289A>G (p.Lys763=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002573972] |
Chr3:123707855 [GRCh38] Chr3:123426702 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.697T>G (p.Cys233Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002917701] |
Chr3:123737435 [GRCh38] Chr3:123456282 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1632G>A (p.Arg544=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003041896] |
Chr3:123725963 [GRCh38] Chr3:123444810 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5500+7T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002958454] |
Chr3:123618632 [GRCh38] Chr3:123337479 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1517-5C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003056505] |
Chr3:123726083 [GRCh38] Chr3:123444930 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.105C>T (p.Phe35=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002954049] |
Chr3:123793737 [GRCh38] Chr3:123512584 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1289C>T (p.Thr430Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003082144] |
Chr3:123733707 [GRCh38] Chr3:123452554 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.165+2T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002766271] |
Chr3:123793675 [GRCh38] Chr3:123512522 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5572G>T (p.Asp1858Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002697962] |
Chr3:123614278 [GRCh38] Chr3:123333125 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1531G>A (p.Glu511Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002766970] |
Chr3:123726064 [GRCh38] Chr3:123444911 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4269G>T (p.Thr1423=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002623360] |
Chr3:123657145 [GRCh38] Chr3:123375992 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4416-19C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002957509] |
Chr3:123647446 [GRCh38] Chr3:123366293 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5218A>G (p.Met1740Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002629937] |
Chr3:123626838 [GRCh38] Chr3:123345685 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3565+11C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002600889] |
Chr3:123692724 [GRCh38] Chr3:123411571 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1734T>C (p.His578=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002632941] |
Chr3:123722198 [GRCh38] Chr3:123441045 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1008G>C (p.Pro336=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002921940] |
Chr3:123733988 [GRCh38] Chr3:123452835 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2805A>C (p.Pro935=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002632383] |
Chr3:123700663 [GRCh38] Chr3:123419510 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3705A>G (p.Ala1235=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002582046] |
Chr3:123666345 [GRCh38] Chr3:123385192 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3565+13C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003027052] |
Chr3:123692722 [GRCh38] Chr3:123411569 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5529C>T (p.Phe1843=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002857269] |
Chr3:123614321 [GRCh38] Chr3:123333168 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2609G>A (p.Arg870Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002650790]|Familial thoracic aortic aneurysm and aortic dissection [RCV003167593] |
Chr3:123700859 [GRCh38] Chr3:123419706 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5040C>T (p.Phe1680=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002629495] |
Chr3:123629548 [GRCh38] Chr3:123348395 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3565+20C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002941978] |
Chr3:123692715 [GRCh38] Chr3:123411562 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.180A>G (p.Pro60=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002651295] |
Chr3:123752524 [GRCh38] Chr3:123471371 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1804+5G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002966902]|MYLK-related condition [RCV003409998] |
Chr3:123722123 [GRCh38] Chr3:123440970 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1507C>G (p.Gln503Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002834207] |
Chr3:123732905 [GRCh38] Chr3:123451752 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1349A>G (p.Glu450Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002809176] |
Chr3:123733063 [GRCh38] Chr3:123451910 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4071T>C (p.Tyr1357=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002938193] |
Chr3:123657343 [GRCh38] Chr3:123376190 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2664C>T (p.Arg888=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003088036] |
Chr3:123700804 [GRCh38] Chr3:123419651 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3156T>C (p.Asn1052=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002833773] |
Chr3:123700312 [GRCh38] Chr3:123419159 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3877A>G (p.Ser1293Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002878773] |
Chr3:123664213 [GRCh38] Chr3:123383060 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1310-2A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002646155] |
Chr3:123733104 [GRCh38] Chr3:123451951 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3566-2A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002716552] |
Chr3:123682312 [GRCh38] Chr3:123401159 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.2663G>T (p.Arg888Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002715691] |
Chr3:123700805 [GRCh38] Chr3:123419652 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.145A>G (p.Thr49Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002921292]|not provided [RCV003313309] |
Chr3:123793697 [GRCh38] Chr3:123512544 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2463-12C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003060494]|not provided [RCV003232785] |
Chr3:123701017 [GRCh38] Chr3:123419864 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.2464G>C (p.Gly822Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002806002] |
Chr3:123701004 [GRCh38] Chr3:123419851 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1309+5G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003091040] |
Chr3:123733682 [GRCh38] Chr3:123452529 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1174C>T (p.Gln392Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002770139] |
Chr3:123733822 [GRCh38] Chr3:123452669 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.373+19G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002938067] |
Chr3:123752312 [GRCh38] Chr3:123471159 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.367G>A (p.Val123Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002580565] |
Chr3:123752337 [GRCh38] Chr3:123471184 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3147C>A (p.Pro1049=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002833778] |
Chr3:123700321 [GRCh38] Chr3:123419168 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2295T>C (p.Thr765=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002631005] |
Chr3:123707849 [GRCh38] Chr3:123426696 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4322-9_4322-8delinsTT |
indel |
Aortic aneurysm, familial thoracic 7 [RCV002938982] |
Chr3:123649072..123649073 [GRCh38] Chr3:123367919..123367920 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3703+12C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003065074] |
Chr3:123667125 [GRCh38] Chr3:123385972 [GRCh37] Chr3:3q21.1 |
benign |
NM_053025.4(MYLK):c.2462+12C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002938549] |
Chr3:123701426 [GRCh38] Chr3:123420273 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.658A>G (p.Ile220Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002899802] |
Chr3:123737474 [GRCh38] Chr3:123456321 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5196C>T (p.Ser1732=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002899071] |
Chr3:123626860 [GRCh38] Chr3:123345707 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4343A>G (p.Asp1448Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003011083] |
Chr3:123649043 [GRCh38] Chr3:123367890 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.374-14T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002937184] |
Chr3:123740015 [GRCh38] Chr3:123458862 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2427G>A (p.Leu809=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003062978] |
Chr3:123701473 [GRCh38] Chr3:123420320 [GRCh37] Chr3:3q21.1 |
likely benign|uncertain significance |
NM_053025.4(MYLK):c.3745G>T (p.Val1249Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002714967] |
Chr3:123666305 [GRCh38] Chr3:123385152 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2463-3C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002833143] |
Chr3:123701008 [GRCh38] Chr3:123419855 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5623G>A (p.Asp1875Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002675563] |
Chr3:123614227 [GRCh38] Chr3:123333074 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2781C>G (p.Ala927=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002857017] |
Chr3:123700687 [GRCh38] Chr3:123419534 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1218G>C (p.Glu406Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002899817] |
Chr3:123733778 [GRCh38] Chr3:123452625 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4514A>G (p.Asn1505Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003030946] |
Chr3:123647329 [GRCh38] Chr3:123366176 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1539C>T (p.Ala513=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003089781] |
Chr3:123726056 [GRCh38] Chr3:123444903 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1127C>T (p.Pro376Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003091614] |
Chr3:123733869 [GRCh38] Chr3:123452716 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5500+10A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003062795] |
Chr3:123618629 [GRCh38] Chr3:123337476 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1488G>A (p.Leu496=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002600481] |
Chr3:123732924 [GRCh38] Chr3:123451771 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2416C>T (p.Gln806Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002746531] |
Chr3:123701484 [GRCh38] Chr3:123420331 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5368G>A (p.Glu1790Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002943973] |
Chr3:123620207 [GRCh38] Chr3:123339054 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.486G>A (p.Lys162=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003068503] |
Chr3:123738999 [GRCh38] Chr3:123457846 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2005T>G (p.Phe669Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002943466]|not provided [RCV003130790] |
Chr3:123708833 [GRCh38] Chr3:123427680 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2478C>G (p.Ala826=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003066507] |
Chr3:123700990 [GRCh38] Chr3:123419837 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2842C>T (p.Pro948Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003066906] |
Chr3:123700626 [GRCh38] Chr3:123419473 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1080C>G (p.Gly360=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002633659] |
Chr3:123733916 [GRCh38] Chr3:123452763 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.480A>G (p.Pro160=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003052792] |
Chr3:123739005 [GRCh38] Chr3:123457852 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2435A>G (p.Gln812Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002943831] |
Chr3:123701465 [GRCh38] Chr3:123420312 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.373+18C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002633147] |
Chr3:123752313 [GRCh38] Chr3:123471160 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4652T>C (p.Ile1551Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003032066] |
Chr3:123640472 [GRCh38] Chr3:123359319 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5056G>A (p.Asp1686Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002603170] |
Chr3:123629532 [GRCh38] Chr3:123348379 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3339G>A (p.Lys1113=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002634093] |
Chr3:123700129 [GRCh38] Chr3:123418976 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.532G>A (p.Gly178Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002586836] |
Chr3:123738953 [GRCh38] Chr3:123457800 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1494T>C (p.Cys498=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002586899] |
Chr3:123732918 [GRCh38] Chr3:123451765 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.755-18C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002607128] |
Chr3:123735434 [GRCh38] Chr3:123454281 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1652-15G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003071212] |
Chr3:123722295 [GRCh38] Chr3:123441142 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4619+17C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002606258] |
Chr3:123647207 [GRCh38] Chr3:123366054 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.423-12A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003071460] |
Chr3:123739074 [GRCh38] Chr3:123457921 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4183C>T (p.Leu1395=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002588606] |
Chr3:123657231 [GRCh38] Chr3:123376078 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3590A>G (p.Lys1197Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003051184] |
Chr3:123682286 [GRCh38] Chr3:123401133 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2573A>G (p.Gln858Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002604518] |
Chr3:123700895 [GRCh38] Chr3:123419742 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2669A>G (p.Gln890Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003069755] |
Chr3:123700799 [GRCh38] Chr3:123419646 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5370A>G (p.Glu1790=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002585785] |
Chr3:123618769 [GRCh38] Chr3:123337616 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4415C>A (p.Ser1472Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003070703] |
Chr3:123648971 [GRCh38] Chr3:123367818 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5239-16C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV002610568] |
Chr3:123620352 [GRCh38] Chr3:123339199 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5535T>G (p.Asp1845Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003150613] |
Chr3:123614315 [GRCh38] Chr3:123333162 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3128C>G (p.Pro1043Arg) |
single nucleotide variant |
not provided [RCV003132787] |
Chr3:123700340 [GRCh38] Chr3:123419187 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.-185-1995G>A |
single nucleotide variant |
not provided [RCV003132788] |
Chr3:123878612 [GRCh38] Chr3:123597459 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.587A>C (p.Lys196Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003150614] |
Chr3:123738898 [GRCh38] Chr3:123457745 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3888C>T (p.Thr1296=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278405] |
Chr3:123664202 [GRCh38] Chr3:123383049 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.972A>G (p.Ser324=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278406] |
Chr3:123734024 [GRCh38] Chr3:123452871 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1441G>T (p.Asp481Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278408] |
Chr3:123732971 [GRCh38] Chr3:123451818 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4921G>A (p.Ala1641Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278414] |
Chr3:123638111 [GRCh38] Chr3:123356958 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4431G>T (p.Gln1477His) |
single nucleotide variant |
not provided [RCV003227146] |
Chr3:123647412 [GRCh38] Chr3:123366259 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2262G>C (p.Trp754Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177724] |
Chr3:123707882 [GRCh38] Chr3:123426729 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1353C>T (p.Gly451=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177739] |
Chr3:123733059 [GRCh38] Chr3:123451906 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1860C>A (p.Pro620=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003200572] |
Chr3:123709838 [GRCh38] Chr3:123428685 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3395C>A (p.Thr1132Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003198714] |
Chr3:123700073 [GRCh38] Chr3:123418920 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1235C>T (p.Ala412Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177726] |
Chr3:123733761 [GRCh38] Chr3:123452608 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.835A>C (p.Ile279Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177730] |
Chr3:123734161 [GRCh38] Chr3:123453008 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.420A>G (p.Leu140=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177731] |
Chr3:123739955 [GRCh38] Chr3:123458802 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.210G>A (p.Gly70=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003165125] |
Chr3:123752494 [GRCh38] Chr3:123471341 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1690G>C (p.Gly564Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177721] |
Chr3:123722242 [GRCh38] Chr3:123441089 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4550A>T (p.His1517Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177722] |
Chr3:123647293 [GRCh38] Chr3:123366140 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4074T>A (p.Asp1358Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177728] |
Chr3:123657340 [GRCh38] Chr3:123376187 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5501G>C (p.Gly1834Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177737] |
Chr3:123614349 [GRCh38] Chr3:123333196 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.23C>T (p.Ala8Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177720] |
Chr3:123793819 [GRCh38] Chr3:123512666 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.230G>A (p.Gly77Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177732] |
Chr3:123752474 [GRCh38] Chr3:123471321 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4095C>G (p.Ser1365=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177735] |
Chr3:123657319 [GRCh38] Chr3:123376166 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3559G>A (p.Val1187Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003217469] |
Chr3:123692741 [GRCh38] Chr3:123411588 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4457C>T (p.Thr1486Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003224707] |
Chr3:123647386 [GRCh38] Chr3:123366233 [GRCh37] Chr3:3q21.1 |
uncertain significance |
XM_005247492.1:c.2736delG |
deletion |
Congenital aneurysm of ascending aorta [RCV003229552] |
|
likely pathogenic |
NM_053025.4(MYLK):c.2053G>T (p.Val685Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003261491] |
Chr3:123708785 [GRCh38] Chr3:123427632 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3343C>G (p.Leu1115Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003176345] |
Chr3:123700125 [GRCh38] Chr3:123418972 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2108A>T (p.Glu703Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177734] |
Chr3:123708730 [GRCh38] Chr3:123427577 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1211C>T (p.Pro404Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177736] |
Chr3:123733785 [GRCh38] Chr3:123452632 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2697C>A (p.Asp899Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177740] |
Chr3:123700771 [GRCh38] Chr3:123419618 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4385A>G (p.Asp1462Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003165124] |
Chr3:123649001 [GRCh38] Chr3:123367848 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1005_1007delinsTCT (p.Pro336Leu) |
indel |
Familial thoracic aortic aneurysm and aortic dissection [RCV003165127]|not specified [RCV003396931] |
Chr3:123733989..123733991 [GRCh38] Chr3:123452836..123452838 [GRCh37] Chr3:3q21.1 |
benign|likely benign |
NM_053025.4(MYLK):c.4810A>C (p.Ile1604Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003261385] |
Chr3:123640314 [GRCh38] Chr3:123359161 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2080A>C (p.Thr694Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003165126] |
Chr3:123708758 [GRCh38] Chr3:123427605 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.467G>T (p.Trp156Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003200567] |
Chr3:123739018 [GRCh38] Chr3:123457865 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3868G>C (p.Glu1290Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177723] |
Chr3:123664222 [GRCh38] Chr3:123383069 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.552C>T (p.Ile184=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177738] |
Chr3:123738933 [GRCh38] Chr3:123457780 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1612C>A (p.Arg538=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177725] |
Chr3:123725983 [GRCh38] Chr3:123444830 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3221A>T (p.Asp1074Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177727] |
Chr3:123700247 [GRCh38] Chr3:123419094 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2984A>T (p.Asn995Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003177729] |
Chr3:123700484 [GRCh38] Chr3:123419331 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3677C>T (p.Pro1226Leu) |
single nucleotide variant |
not specified [RCV003324255] |
Chr3:123667163 [GRCh38] Chr3:123386010 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4612C>A (p.Leu1538Met) |
single nucleotide variant |
not provided [RCV003324959] |
Chr3:123647231 [GRCh38] Chr3:123366078 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3028A>G (p.Ser1010Gly) |
single nucleotide variant |
not provided [RCV003319793] |
Chr3:123700440 [GRCh38] Chr3:123419287 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1171A>G (p.Ser391Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003308700] |
Chr3:123733825 [GRCh38] Chr3:123452672 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3501A>G (p.Leu1167=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003310457] |
Chr3:123692799 [GRCh38] Chr3:123411646 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4476G>A (p.Gly1492=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003310458] |
Chr3:123647367 [GRCh38] Chr3:123366214 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.667G>T (p.Val223Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003310460] |
Chr3:123737465 [GRCh38] Chr3:123456312 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5399T>G (p.Val1800Gly) |
single nucleotide variant |
not specified [RCV003324254] |
Chr3:123618740 [GRCh38] Chr3:123337587 [GRCh37] Chr3:3q21.1 |
uncertain significance |
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 |
copy number loss |
Chromosome 3q13.31 deletion syndrome [RCV003327614] |
Chr3:93979547..124774010 [GRCh38] Chr3:3q11.1-21.2 |
pathogenic |
NM_053025.4(MYLK):c.422+6T>G |
single nucleotide variant |
not provided [RCV003327124] |
Chr3:123739947 [GRCh38] Chr3:123458794 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1348G>T (p.Glu450Ter) |
single nucleotide variant |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 [RCV003333850] |
Chr3:123733064 [GRCh38] Chr3:123451911 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.536G>C (p.Arg179Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003344128] |
Chr3:123738949 [GRCh38] Chr3:123457796 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5100G>A (p.Leu1700=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003344131] |
Chr3:123629488 [GRCh38] Chr3:123348335 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1948C>T (p.Pro650Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003344133] |
Chr3:123708890 [GRCh38] Chr3:123427737 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3498C>T (p.Gly1166=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003358467] |
Chr3:123692802 [GRCh38] Chr3:123411649 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3976A>G (p.Thr1326Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003358466] |
Chr3:123664114 [GRCh38] Chr3:123382961 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3642A>G (p.Leu1214=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003344129] |
Chr3:123682234 [GRCh38] Chr3:123401081 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.646C>G (p.Gln216Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003358468] |
Chr3:123737486 [GRCh38] Chr3:123456333 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1645C>T (p.Leu549=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003344130] |
Chr3:123725950 [GRCh38] Chr3:123444797 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4291C>A (p.Pro1431Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003344132] |
Chr3:123649192 [GRCh38] Chr3:123368039 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2484C>T (p.Cys828=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003345845] |
Chr3:123700984 [GRCh38] Chr3:123419831 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.83C>G (p.Pro28Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003345874] |
Chr3:123793759 [GRCh38] Chr3:123512606 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4203G>A (p.Lys1401=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003387086] |
Chr3:123657211 [GRCh38] Chr3:123376058 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4621G>A (p.Val1541Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003347550] |
Chr3:123640503 [GRCh38] Chr3:123359350 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5578G>A (p.Asp1860Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003350585] |
Chr3:123614272 [GRCh38] Chr3:123333119 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2744T>A (p.Leu915Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003383878] |
Chr3:123700724 [GRCh38] Chr3:123419571 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.423G>A (p.Gly141=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003387088] |
Chr3:123739062 [GRCh38] Chr3:123457909 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3986-1G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003455787] |
Chr3:123657429 [GRCh38] Chr3:123376276 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2097C>T (p.Asn699=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003873633] |
Chr3:123708741 [GRCh38] Chr3:123427588 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.467G>A (p.Trp156Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003875419] |
Chr3:123739018 [GRCh38] Chr3:123457865 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3565+1G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003873889] |
Chr3:123692734 [GRCh38] Chr3:123411581 [GRCh37] Chr3:3q21.1 |
likely pathogenic |
NM_053025.4(MYLK):c.2482T>C (p.Cys828Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003875515] |
Chr3:123700986 [GRCh38] Chr3:123419833 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.590G>A (p.Gly197Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003875516] |
Chr3:123737542 [GRCh38] Chr3:123456389 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2222C>T (p.Ser741Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003873732] |
Chr3:123707922 [GRCh38] Chr3:123426769 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4657G>A (p.Glu1553Lys) |
single nucleotide variant |
MYLK-related condition [RCV003408515] |
Chr3:123640467 [GRCh38] Chr3:123359314 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2570G>A (p.Gly857Glu) |
single nucleotide variant |
not provided [RCV003441609] |
Chr3:123700898 [GRCh38] Chr3:123419745 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4549C>A (p.His1517Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003448616] |
Chr3:123647294 [GRCh38] Chr3:123366141 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5619C>T (p.Cys1873=) |
single nucleotide variant |
not provided [RCV003427315] |
Chr3:123614231 [GRCh38] Chr3:123333078 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.401_413delinsG (p.Pro134_Lys138delinsArg) |
indel |
not provided [RCV003441494] |
Chr3:123739962..123739974 [GRCh38] Chr3:123458809..123458821 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5460T>G (p.Val1820=) |
single nucleotide variant |
not provided [RCV003457387] |
Chr3:123618679 [GRCh38] Chr3:123337526 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1866del (p.Ile624fs) |
deletion |
MYLK-related condition [RCV003410514] |
Chr3:123709832 [GRCh38] Chr3:123428679 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.600A>C (p.Pro200=) |
single nucleotide variant |
not provided [RCV003427316] |
Chr3:123737532 [GRCh38] Chr3:123456379 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3704-12G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526367] |
Chr3:123666358 [GRCh38] Chr3:123385205 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2640G>A (p.Arg880=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527637] |
Chr3:123700828 [GRCh38] Chr3:123419675 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2598del (p.Glu867fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV003526482] |
Chr3:123700870 [GRCh38] Chr3:123419717 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3653-19G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526590] |
Chr3:123667206 [GRCh38] Chr3:123386053 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4415+10G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526720] |
Chr3:123648961 [GRCh38] Chr3:123367808 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2926C>T (p.Pro976Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526951] |
Chr3:123700542 [GRCh38] Chr3:123419389 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.574G>A (p.Val192Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003880877] |
Chr3:123738911 [GRCh38] Chr3:123457758 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2203G>A (p.Gly735Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003877040] |
Chr3:123707941 [GRCh38] Chr3:123426788 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2462+8C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526954] |
Chr3:123701430 [GRCh38] Chr3:123420277 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5690T>G (p.Leu1897Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525602] |
Chr3:123614160 [GRCh38] Chr3:123333007 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3802A>G (p.Thr1268Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527148] |
Chr3:123666248 [GRCh38] Chr3:123385095 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4415+12G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527168] |
Chr3:123648959 [GRCh38] Chr3:123367806 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3731C>T (p.Pro1244Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525601] |
Chr3:123666319 [GRCh38] Chr3:123385166 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.67A>G (p.Arg23Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527033] |
Chr3:123793775 [GRCh38] Chr3:123512622 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.391C>T (p.Leu131Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527112] |
Chr3:123739984 [GRCh38] Chr3:123458831 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3949G>T (p.Gly1317Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527323] |
Chr3:123664141 [GRCh38] Chr3:123382988 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1352G>T (p.Gly451Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527350] |
Chr3:123733060 [GRCh38] Chr3:123451907 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1025C>T (p.Ser342Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003882336] |
Chr3:123733971 [GRCh38] Chr3:123452818 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2620A>G (p.Lys874Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525762] |
Chr3:123700848 [GRCh38] Chr3:123419695 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4288+20del |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV003527462] |
Chr3:123657106 [GRCh38] Chr3:123375953 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5500+18T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003849350] |
Chr3:123618621 [GRCh38] Chr3:123337468 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1517-12T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525761] |
Chr3:123726090 [GRCh38] Chr3:123444937 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.336T>C (p.Ser112=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527215] |
Chr3:123752368 [GRCh38] Chr3:123471215 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.117T>G (p.Pro39=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527351] |
Chr3:123793725 [GRCh38] Chr3:123512572 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.261G>A (p.Gly87=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527542] |
Chr3:123752443 [GRCh38] Chr3:123471290 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2004C>T (p.Asp668=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527552] |
Chr3:123708834 [GRCh38] Chr3:123427681 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5095C>T (p.Leu1699=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526302] |
Chr3:123629493 [GRCh38] Chr3:123348340 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1773G>C (p.Gln591His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525447] |
Chr3:123722159 [GRCh38] Chr3:123441006 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.315C>G (p.Thr105=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525491] |
Chr3:123752389 [GRCh38] Chr3:123471236 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.411C>T (p.Ser137=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526422] |
Chr3:123739964 [GRCh38] Chr3:123458811 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3653-14C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003877658] |
Chr3:123667201 [GRCh38] Chr3:123386048 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2579G>T (p.Trp860Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003824737] |
Chr3:123700889 [GRCh38] Chr3:123419736 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2228C>A (p.Ala743Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525539] |
Chr3:123707916 [GRCh38] Chr3:123426763 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1815T>C (p.Ser605=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526448] |
Chr3:123709883 [GRCh38] Chr3:123428730 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3123C>T (p.Ala1041=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527047] |
Chr3:123700345 [GRCh38] Chr3:123419192 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1855A>G (p.Lys619Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527052] |
Chr3:123709843 [GRCh38] Chr3:123428690 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1652-2A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527290] |
Chr3:123722282 [GRCh38] Chr3:123441129 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2881G>A (p.Gly961Arg) |
single nucleotide variant |
not provided [RCV003488095] |
Chr3:123700587 [GRCh38] Chr3:123419434 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1236A>G (p.Ala412=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525561] |
Chr3:123733760 [GRCh38] Chr3:123452607 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.215C>G (p.Pro72Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525600] |
Chr3:123752489 [GRCh38] Chr3:123471336 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2628C>G (p.Arg876=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527413] |
Chr3:123700840 [GRCh38] Chr3:123419687 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1879C>A (p.Gln627Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527305] |
Chr3:123709819 [GRCh38] Chr3:123428666 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5110A>G (p.Met1704Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527427] |
Chr3:123629478 [GRCh38] Chr3:123348325 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5589G>A (p.Gly1863=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003824821] |
Chr3:123614261 [GRCh38] Chr3:123333108 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2390+12T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525624] |
Chr3:123707742 [GRCh38] Chr3:123426589 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.65C>T (p.Ser22Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527297] |
Chr3:123793777 [GRCh38] Chr3:123512624 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5239-15G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527026] |
Chr3:123620351 [GRCh38] Chr3:123339198 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1651+17C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525707] |
Chr3:123725927 [GRCh38] Chr3:123444774 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3149T>A (p.Met1050Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526604] |
Chr3:123700319 [GRCh38] Chr3:123419166 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3729C>T (p.Phe1243=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526614] |
Chr3:123666321 [GRCh38] Chr3:123385168 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.754G>A (p.Gly252Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527071] |
Chr3:123737378 [GRCh38] Chr3:123456225 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3684C>T (p.Pro1228=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003486458] |
Chr3:123667156 [GRCh38] Chr3:123386003 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.373+3G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003829079] |
Chr3:123752328 [GRCh38] Chr3:123471175 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2352G>A (p.Val784=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527434] |
Chr3:123707792 [GRCh38] Chr3:123426639 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2171T>C (p.Ile724Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003879331] |
Chr3:123707973 [GRCh38] Chr3:123426820 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3478G>C (p.Ala1160Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527154] |
Chr3:123692822 [GRCh38] Chr3:123411669 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.957G>T (p.Glu319Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003829737] |
Chr3:123734039 [GRCh38] Chr3:123452886 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.823G>A (p.Val275Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003830915] |
Chr3:123734173 [GRCh38] Chr3:123453020 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3808A>T (p.Thr1270Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527321] |
Chr3:123666242 [GRCh38] Chr3:123385089 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2776C>G (p.Arg926Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527328] |
Chr3:123700692 [GRCh38] Chr3:123419539 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1018A>G (p.Lys340Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003830210] |
Chr3:123733978 [GRCh38] Chr3:123452825 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2140+12C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526861] |
Chr3:123708686 [GRCh38] Chr3:123427533 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3448+17G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525832] |
Chr3:123700003 [GRCh38] Chr3:123418850 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2391-4T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525843] |
Chr3:123701513 [GRCh38] Chr3:123420360 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.591A>G (p.Gly197=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526751] |
Chr3:123737541 [GRCh38] Chr3:123456388 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.382_383delinsCT (p.Ala128Leu) |
indel |
Aortic aneurysm, familial thoracic 7 [RCV003527449] |
Chr3:123739992..123739993 [GRCh38] Chr3:123458839..123458840 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1357C>T (p.Pro453Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527450] |
Chr3:123733055 [GRCh38] Chr3:123451902 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2141-11C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527014] |
Chr3:123708014 [GRCh38] Chr3:123426861 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3986-19_3986-17del |
microsatellite |
Aortic aneurysm, familial thoracic 7 [RCV003879144] |
Chr3:123657445..123657447 [GRCh38] Chr3:123376292..123376294 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2646C>T (p.His882=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527507] |
Chr3:123700822 [GRCh38] Chr3:123419669 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.589-7T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527516] |
Chr3:123737550 [GRCh38] Chr3:123456397 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.5300T>C (p.Leu1767Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526366] |
Chr3:123620275 [GRCh38] Chr3:123339122 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4998T>G (p.Asp1666Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527114] |
Chr3:123629590 [GRCh38] Chr3:123348437 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1089C>T (p.Val363=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527570] |
Chr3:123733907 [GRCh38] Chr3:123452754 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.713G>A (p.Gly238Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527572] |
Chr3:123737419 [GRCh38] Chr3:123456266 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2926C>A (p.Pro976Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003527140] |
Chr3:123700542 [GRCh38] Chr3:123419389 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5162A>G (p.Lys1721Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526619] |
Chr3:123626894 [GRCh38] Chr3:123345741 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2432T>A (p.Leu811Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525589] |
Chr3:123701468 [GRCh38] Chr3:123420315 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3659C>A (p.Ala1220Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526913] |
Chr3:123667181 [GRCh38] Chr3:123386028 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4971C>A (p.Gly1657=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526272] |
Chr3:123629617 [GRCh38] Chr3:123348464 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2187A>G (p.Ser729=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526279] |
Chr3:123707957 [GRCh38] Chr3:123426804 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2127_2137del (p.Leu710fs) |
deletion |
Aortic aneurysm, familial thoracic 7 [RCV003526953] |
Chr3:123708701..123708711 [GRCh38] Chr3:123427548..123427558 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.422+18A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003828543] |
Chr3:123739935 [GRCh38] Chr3:123458782 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4008C>A (p.Gly1336=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003882664] |
Chr3:123657406 [GRCh38] Chr3:123376253 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.374-12T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526741] |
Chr3:123740013 [GRCh38] Chr3:123458860 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3831+3C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525734] |
Chr3:123666216 [GRCh38] Chr3:123385063 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.3302A>G (p.Lys1101Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525745] |
Chr3:123700166 [GRCh38] Chr3:123419013 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.2824G>T (p.Glu942Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525750] |
Chr3:123700644 [GRCh38] Chr3:123419491 [GRCh37] Chr3:3q21.1 |
pathogenic |
NM_053025.4(MYLK):c.2194G>C (p.Ala732Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525812] |
Chr3:123707950 [GRCh38] Chr3:123426797 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.1142C>G (p.Thr381Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526491] |
Chr3:123733854 [GRCh38] Chr3:123452701 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4182G>T (p.Leu1394=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003525461] |
Chr3:123657232 [GRCh38] Chr3:123376079 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.664G>A (p.Gly222Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526544] |
Chr3:123737468 [GRCh38] Chr3:123456315 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4665T>C (p.Phe1555=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526559] |
Chr3:123640459 [GRCh38] Chr3:123359306 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.2444C>T (p.Ser815Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003526796] |
Chr3:123701456 [GRCh38] Chr3:123420303 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.12G>A (p.Val4=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003850341] |
Chr3:123793830 [GRCh38] Chr3:123512677 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.3120_3155dup (p.Pro1055_Asp1056insAlaGluThrLeuLysProMetGlyAsnAlaLysPro) |
duplication |
Aortic aneurysm, familial thoracic 7 [RCV003849379] |
Chr3:123700312..123700313 [GRCh38] Chr3:123419159..123419160 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.5238+19T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003835148] |
Chr3:123626799 [GRCh38] Chr3:123345646 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.4961+12G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003850515] |
Chr3:123638059 [GRCh38] Chr3:123356906 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1061C>A (p.Pro354Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003833817] |
Chr3:123733935 [GRCh38] Chr3:123452782 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.4344T>C (p.Asp1448=) |
single nucleotide variant |
not provided [RCV003740586] |
Chr3:123649042 [GRCh38] Chr3:123367889 [GRCh37] Chr3:3q21.1 |
likely benign |
NM_053025.4(MYLK):c.1693G>C (p.Val565Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 7 [RCV003834840] |
Chr3:123722239 [GRCh38] Chr3:123441086 [GRCh37] Chr3:3q21.1 |
uncertain significance |
NM_053025.4(MYLK):c.848C>G (p.Ser283Trp) |
single nucleotide variant |
not provided [RCV003740513] |
Chr3:123734148 [GRCh38] Chr3:123452995 [GRCh37] Chr3:3q21.1 |
uncertain significance |