ClinVar Miner

List of variants in gene MYLK reported as uncertain significance for Thoracic aortic aneurysm and aortic dissection

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 124
Download table as spreadsheet
HGVS dbSNP
NM_053025.3(MYLK):c.*1031C>A rs886057843
NM_053025.3(MYLK):c.*1041G>T rs886057842
NM_053025.3(MYLK):c.*1174_*1177dupCTTA rs146691098
NM_053025.3(MYLK):c.*1191T>C rs756047939
NM_053025.3(MYLK):c.*1210T>C rs886057841
NM_053025.3(MYLK):c.*1262_*1265delGTGT rs550448371
NM_053025.3(MYLK):c.*1302T>C rs113046889
NM_053025.3(MYLK):c.*1526C>A rs886057840
NM_053025.3(MYLK):c.*1576G>A rs769291281
NM_053025.3(MYLK):c.*1630G>A rs886057839
NM_053025.3(MYLK):c.*1653G>A rs780658640
NM_053025.3(MYLK):c.*165delA rs886057856
NM_053025.3(MYLK):c.*1671A>T rs886057838
NM_053025.3(MYLK):c.*246A>G rs886057855
NM_053025.3(MYLK):c.*252T>C rs886057854
NM_053025.3(MYLK):c.*258G>T rs886057853
NM_053025.3(MYLK):c.*334_*335insAAATGC rs886057852
NM_053025.3(MYLK):c.*416dupT rs886057851
NM_053025.3(MYLK):c.*524C>A rs886057850
NM_053025.3(MYLK):c.*712G>A rs886057849
NM_053025.3(MYLK):c.*713C>A rs886057848
NM_053025.3(MYLK):c.*76_*77insAC rs879035240
NM_053025.3(MYLK):c.*76dupA rs35930843
NM_053025.3(MYLK):c.*77dupC rs886057857
NM_053025.3(MYLK):c.*802C>T rs886057847
NM_053025.3(MYLK):c.*812C>A rs886057846
NM_053025.3(MYLK):c.*857_*860dupTTTG rs886057845
NM_053025.3(MYLK):c.*95C>G rs560639262
NM_053025.3(MYLK):c.*960C>T rs886057844
NM_053025.3(MYLK):c.-130A>C rs886057867
NM_053025.3(MYLK):c.-185-5A>G rs569756528
NM_053025.3(MYLK):c.-186+10C>A rs886057868
NM_053025.3(MYLK):c.-228C>G rs886057869
NM_053025.3(MYLK):c.-24C>T rs553555866
NM_053025.3(MYLK):c.-277T>C rs886057870
NM_053025.3(MYLK):c.1213A>G (p.Met405Val) rs35436690
NM_053025.3(MYLK):c.123C>A (p.Asn41Lys) rs886057866
NM_053025.3(MYLK):c.1297T>C (p.Phe433Leu) rs886057864
NM_053025.3(MYLK):c.1474G>A (p.Ala492Thr) rs143010767
NM_053025.3(MYLK):c.149C>T (p.Ala50Val) rs369576521
NM_053025.3(MYLK):c.1630C>T (p.Arg544Trp) rs552998417
NM_053025.3(MYLK):c.1651+7T>C rs758327487
NM_053025.3(MYLK):c.1673G>A (p.Arg558His)
NM_053025.3(MYLK):c.1775T>C (p.Val592Ala)
NM_053025.3(MYLK):c.188A>G (p.Gln63Arg) rs778259023
NM_053025.3(MYLK):c.1952C>T (p.Pro651Leu) rs555029377
NM_053025.3(MYLK):c.1957G>A (p.Glu653Lys) rs142765858
NM_053025.3(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.3(MYLK):c.1991A>G (p.Gln664Arg) rs200273207
NM_053025.3(MYLK):c.2023G>A (p.Gly675Arg) rs147008323
NM_053025.3(MYLK):c.207C>T (p.Asn69=) rs376457425
NM_053025.3(MYLK):c.2120A>G (p.Gln707Arg) rs201615936
NM_053025.3(MYLK):c.2124C>T (p.Ala708=) rs372939794
NM_053025.3(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_053025.3(MYLK):c.2253C>T (p.Thr751=) rs138777049
NM_053025.3(MYLK):c.229G>A (p.Gly77Ser)
NM_053025.3(MYLK):c.2407T>C (p.Cys803Arg)
NM_053025.3(MYLK):c.2461C>T (p.Arg821Trp) rs150007422
NM_053025.3(MYLK):c.24C>G (p.Ala8=) rs78118111
NM_053025.3(MYLK):c.2564C>T (p.Ala855Val) rs886057863
NM_053025.3(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_053025.3(MYLK):c.257G>A (p.Arg86Gln) rs138265409
NM_053025.3(MYLK):c.2589G>A (p.Glu863=) rs536506601
NM_053025.3(MYLK):c.2605G>A (p.Val869Met)
NM_053025.3(MYLK):c.2626C>A (p.Arg876Ser) rs369503342
NM_053025.3(MYLK):c.2740G>A (p.Asp914Asn) rs561148360
NM_053025.3(MYLK):c.2776C>T (p.Arg926Cys) rs766824318
NM_053025.3(MYLK):c.2779G>A (p.Ala927Thr) rs886057862
NM_053025.3(MYLK):c.2781C>T (p.Ala927=) rs12172928
NM_053025.3(MYLK):c.2799G>A (p.Val933=) rs144806671
NM_053025.3(MYLK):c.2829G>T (p.Arg943Ser) rs886057861
NM_053025.3(MYLK):c.2919G>A (p.Pro973=) rs149482336
NM_053025.3(MYLK):c.2936C>T (p.Pro979Leu) rs368229473
NM_053025.3(MYLK):c.3024G>A (p.Val1008=) rs886057860
NM_053025.3(MYLK):c.3448+15G>A rs199789942
NM_053025.3(MYLK):c.3525C>T (p.Asp1175=) rs147735490
NM_053025.3(MYLK):c.3565+7C>T rs768638357
NM_053025.3(MYLK):c.3610C>T (p.Arg1204Trp) rs151294221
NM_053025.3(MYLK):c.3611G>A (p.Arg1204Gln) rs142421063
NM_053025.3(MYLK):c.3706A>G (p.Met1236Val) rs113124819
NM_053025.3(MYLK):c.374-9T>C rs376695367
NM_053025.3(MYLK):c.3749G>A (p.Arg1250His) rs139817477
NM_053025.3(MYLK):c.3832-6C>T rs185681684
NM_053025.3(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_053025.3(MYLK):c.3900G>A (p.Ala1300=) rs563116446
NM_053025.3(MYLK):c.3910C>A (p.His1304Asn) rs758161864
NM_053025.3(MYLK):c.3915C>T (p.Cys1305=) rs371602931
NM_053025.3(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_053025.3(MYLK):c.4054T>C (p.Trp1352Arg) rs886057859
NM_053025.3(MYLK):c.4079G>A (p.Gly1360Asp) rs587782967
NM_053025.3(MYLK):c.4104C>T (p.Ile1368=) rs376676607
NM_053025.3(MYLK):c.4184T>C (p.Leu1395Pro)
NM_053025.3(MYLK):c.423-8C>T rs751696363
NM_053025.3(MYLK):c.4289-13delG rs779252356
NM_053025.3(MYLK):c.4289-4C>T rs376670657
NM_053025.3(MYLK):c.4302A>G (p.Glu1434=) rs145872838
NM_053025.3(MYLK):c.4336G>A (p.Glu1446Lys) rs146682969
NM_053025.3(MYLK):c.4348C>T (p.Arg1450Trp) rs143258617
NM_053025.3(MYLK):c.4415+9A>G rs187964526
NM_053025.3(MYLK):c.4565T>C (p.Val1522Ala) rs763880352
NM_053025.3(MYLK):c.4620-4G>A rs371533014
NM_053025.3(MYLK):c.4620-6C>T rs113607507
NM_053025.3(MYLK):c.4725C>T (p.Tyr1575=) rs374665486
NM_053025.3(MYLK):c.4790C>T (p.Thr1597Met) rs763260112
NM_053025.3(MYLK):c.5001C>T (p.Asn1667=) rs375038682
NM_053025.3(MYLK):c.5114+7A>G rs1553774672
NM_053025.3(MYLK):c.5224A>G (p.Arg1742Gly) rs886057858
NM_053025.3(MYLK):c.5329C>T (p.Pro1777Ser) rs748200926
NM_053025.3(MYLK):c.5441C>T (p.Thr1814Ile) rs142220417
NM_053025.3(MYLK):c.5447G>A (p.Arg1816His) rs140636141
NM_053025.3(MYLK):c.5448C>T (p.Arg1816=) rs56262958
NM_053025.3(MYLK):c.5477C>T (p.Ala1826Val) rs147187907
NM_053025.3(MYLK):c.5510A>C (p.Asp1837Ala)
NM_053025.3(MYLK):c.5529C>A (p.Phe1843Leu)
NM_053025.3(MYLK):c.559C>T (p.Arg187Trp) rs372482276
NM_053025.3(MYLK):c.5703G>A (p.Thr1901=) rs540804249
NM_053025.3(MYLK):c.588+13_588+16delTCTG rs570821069
NM_053025.3(MYLK):c.601C>T (p.Leu201=) rs773082759
NM_053025.3(MYLK):c.619G>A (p.Val207Met) rs756560698
NM_053025.3(MYLK):c.643A>G (p.Met215Val) rs754479443
NM_053025.3(MYLK):c.682G>A (p.Val228Met) rs781483544
NM_053025.3(MYLK):c.859A>G (p.Ser287Gly) rs886057865
NM_053025.3(MYLK):c.969G>A (p.Glu323=) rs368095613
NM_053025.3(MYLK):c.999G>A (p.Pro333=) rs13319347

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.