ClinVar Miner

List of variants in gene ADAMTSL4 reported as uncertain significance for Ectopia lentis

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Gene type:
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Total variants: 59
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HGVS dbSNP
NM_019032.5(ADAMTSL4):c.*126G>A rs117403663
NM_019032.5(ADAMTSL4):c.*276G>A rs181259344
NM_019032.5(ADAMTSL4):c.*295G>C rs114181942
NM_019032.5(ADAMTSL4):c.*332A>G rs886045270
NM_019032.5(ADAMTSL4):c.*333G>A rs587633776
NM_019032.5(ADAMTSL4):c.*407C>T rs745843292
NM_019032.5(ADAMTSL4):c.*457_*458GT[1] rs886045271
NM_019032.5(ADAMTSL4):c.*636C>A rs35531650
NM_019032.5(ADAMTSL4):c.*640C>A rs776897541
NM_019032.5(ADAMTSL4):c.*670C>G rs774586242
NM_019032.5(ADAMTSL4):c.*674C>T rs886045272
NM_019032.5(ADAMTSL4):c.-100G>A rs886045266
NM_019032.5(ADAMTSL4):c.1007G>A (p.Gly336Asp) rs142354320
NM_019032.5(ADAMTSL4):c.1009G>A (p.Ala337Thr) rs374008923
NM_019032.5(ADAMTSL4):c.1032C>T (p.Asn344=) rs370107497
NM_019032.5(ADAMTSL4):c.1118C>A (p.Ala373Asp) rs749157895
NM_019032.5(ADAMTSL4):c.1131+15G>A rs772312644
NM_019032.5(ADAMTSL4):c.1131G>A (p.Ala377=) rs749108523
NM_019032.5(ADAMTSL4):c.1159C>G (p.Arg387Gly) rs763308439
NM_019032.5(ADAMTSL4):c.1268G>A (p.Arg423Gln) rs370381933
NM_019032.5(ADAMTSL4):c.1464G>A (p.Ser488=) rs587675749
NM_019032.5(ADAMTSL4):c.1534C>T (p.Arg512Trp) rs773512669
NM_019032.5(ADAMTSL4):c.1555C>T (p.Arg519Trp) rs369892162
NM_019032.5(ADAMTSL4):c.1750-10_1750-6del rs886045267
NM_019032.5(ADAMTSL4):c.1776C>T (p.Gly592=) rs749692173
NM_019032.5(ADAMTSL4):c.1777G>A (p.Val593Ile) rs757656099
NM_019032.5(ADAMTSL4):c.1860G>A (p.Pro620=) rs754436821
NM_019032.5(ADAMTSL4):c.1861+13C>T rs113919442
NM_019032.5(ADAMTSL4):c.1862-11C>T rs201593004
NM_019032.5(ADAMTSL4):c.1893G>A (p.Pro631=) rs112045022
NM_019032.5(ADAMTSL4):c.1985G>A (p.Gly662Glu) rs886045268
NM_019032.5(ADAMTSL4):c.2087C>T (p.Ser696Leu) rs115937511
NM_019032.5(ADAMTSL4):c.2121G>A (p.Ala707=) rs41317525
NM_019032.5(ADAMTSL4):c.2178-7C>A rs587746986
NM_019032.5(ADAMTSL4):c.2223C>T (p.Pro741=) rs587696191
NM_019032.5(ADAMTSL4):c.2265G>T (p.Gly755=) rs780658812
NM_019032.5(ADAMTSL4):c.2288C>G (p.Pro763Arg) rs56055939
NM_019032.5(ADAMTSL4):c.2288C>T (p.Pro763Leu) rs56055939
NM_019032.5(ADAMTSL4):c.232C>T (p.Leu78Phe) rs147688134
NM_019032.5(ADAMTSL4):c.2392C>T (p.Arg798Trp) rs763279620
NM_019032.5(ADAMTSL4):c.2559+9G>A rs12049100
NM_019032.5(ADAMTSL4):c.2580G>A (p.Thr860=) rs150680122
NM_019032.5(ADAMTSL4):c.2591G>A (p.Arg864Gln) rs143983374
NM_019032.5(ADAMTSL4):c.2703C>T (p.Arg901=) rs139006349
NM_019032.5(ADAMTSL4):c.2795G>A (p.Arg932His) rs202037366
NM_019032.5(ADAMTSL4):c.2829G>A (p.Thr943=) rs76546607
NM_019032.5(ADAMTSL4):c.2882C>T (p.Ala961Val) rs587695953
NM_019032.5(ADAMTSL4):c.2883C>G (p.Ala961=) rs148110558
NM_019032.5(ADAMTSL4):c.2944-8C>T rs372461420
NM_019032.5(ADAMTSL4):c.2963G>C (p.Gly988Ala) rs200172019
NM_019032.5(ADAMTSL4):c.3026_3028CTC[1] (p.Pro1010del) rs755998186
NM_019032.5(ADAMTSL4):c.3179G>A (p.Arg1060His) rs147697821
NM_019032.5(ADAMTSL4):c.514C>T (p.Arg172Cys) rs375564357
NM_019032.5(ADAMTSL4):c.531C>T (p.Ser177=) rs199802790
NM_019032.5(ADAMTSL4):c.584C>T (p.Pro195Leu) rs139990606
NM_019032.5(ADAMTSL4):c.749G>A (p.Arg250Gln) rs145673891
NM_019032.5(ADAMTSL4):c.87C>T (p.Ser29=) rs202059899
NM_019032.5(ADAMTSL4):c.88G>A (p.Gly30Arg) rs755040821
NM_019032.5(ADAMTSL4):c.920G>A (p.Arg307Gln) rs142705142

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