DMXL1 — 529 ClinVar variants
All ClinVar germline DMXL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 335 flagged for review →
4 Conflicting · 54 Benign · 1 Benign/Likely benign · 39 Likely benign · 431 Uncertain significance
Full DMXL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 335
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 313
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 313
- DMXL1 p.Ala113Thr Uncertain significance Single submitter
- DMXL1 p.Ala1728Thr Uncertain significance Single submitter
- DMXL1 p.Ala2100Val Uncertain significance Single submitter
- DMXL1 p.Ala2185Val Uncertain significance Single submitter
- DMXL1 p.Ala2292Gly Uncertain significance Single submitter
- DMXL1 p.Ala2411Thr Uncertain significance Single submitter
- DMXL1 p.Ala2411Val Uncertain significance Single submitter
- DMXL1 p.Ala2419Val Uncertain significance Single submitter
- DMXL1 p.Ala2448Gly Uncertain significance Single submitter
- DMXL1 p.Ala2448Val Uncertain significance Single submitter
- DMXL1 p.Ala2509Val Uncertain significance Single submitter
- DMXL1 p.Ala2553Val Uncertain significance Single submitter
- DMXL1 p.Ala2557Thr Uncertain significance Single submitter
- DMXL1 p.Ala2557Val Uncertain significance Single submitter
- DMXL1 p.Ala2572Val Uncertain significance Single submitter
- DMXL1 p.Ala2680Ser Uncertain significance Single submitter
- DMXL1 p.Ala2721Thr Uncertain significance Single submitter
- DMXL1 p.Ala2894Val Uncertain significance Single submitter
- DMXL1 p.Ala326Gly Uncertain significance Single submitter
- DMXL1 p.Ala424Ser Uncertain significance Single submitter
- DMXL1 p.Ala694Thr Uncertain significance Single submitter
- DMXL1 p.Ala694Val Uncertain significance Single submitter
- DMXL1 p.Ala981Ser Uncertain significance Single submitter
- DMXL1 p.Arg1045Gly Uncertain significance Single submitter
- DMXL1 p.Arg1527Gln Uncertain significance Single submitter
- DMXL1 p.Arg1561Gln Uncertain significance Single submitter
- DMXL1 p.Arg1616His Uncertain significance Single submitter
- DMXL1 p.Arg1746Cys Uncertain significance Single submitter
- DMXL1 p.Arg1746Leu Uncertain significance Single submitter
- DMXL1 p.Arg1856Cys Uncertain significance Single submitter
- DMXL1 p.Arg1991Lys Uncertain significance Single submitter
- DMXL1 p.Arg2056Cys Uncertain significance Single submitter
- DMXL1 p.Arg2392Cys Uncertain significance Single submitter
- DMXL1 p.Arg2392His Uncertain significance Single submitter
- DMXL1 p.Arg2617Trp Uncertain significance Single submitter
- DMXL1 p.Arg2722Cys Uncertain significance Single submitter
- DMXL1 p.Arg305Gln Uncertain significance Single submitter
- DMXL1 p.Arg322Lys Uncertain significance Single submitter
- DMXL1 p.Arg571His Uncertain significance Single submitter
- DMXL1 p.Arg879Cys Uncertain significance Single submitter
- DMXL1 p.Asn1115Asp Uncertain significance Single submitter
- DMXL1 p.Asn1428Asp Uncertain significance Single submitter
- DMXL1 p.Asn1436Thr Uncertain significance Single submitter
- DMXL1 p.Asn1765Ser Uncertain significance Single submitter
- DMXL1 p.Asn1972Asp Uncertain significance Single submitter
- DMXL1 p.Asn2115His Uncertain significance Single submitter
- DMXL1 p.Asn2226Asp Uncertain significance Single submitter
- DMXL1 p.Asn2390Ser Uncertain significance Single submitter
- DMXL1 p.Asn2611His Uncertain significance Single submitter
- DMXL1 p.Asn2620Ser Uncertain significance Single submitter
- DMXL1 p.Asn2883Ser Uncertain significance Single submitter
- DMXL1 p.Asn2972Ser Uncertain significance Single submitter
- DMXL1 p.Asn346Asp Uncertain significance Single submitter
- DMXL1 p.Asn352Ser Uncertain significance Single submitter
- DMXL1 p.Asn596Thr Uncertain significance Single submitter
- DMXL1 p.Asn687Lys Uncertain significance Single submitter
- DMXL1 p.Asn687Ser Uncertain significance Single submitter
- DMXL1 p.Asn886Asp Uncertain significance Single submitter
- DMXL1 p.Asn94His Uncertain significance Single submitter
- DMXL1 p.Asp1018Tyr Uncertain significance Single submitter
- DMXL1 p.Asp1107Asn Uncertain significance Single submitter
- DMXL1 p.Asp1123Val Uncertain significance Single submitter
- DMXL1 p.Asp1210His Uncertain significance Single submitter
- DMXL1 p.Asp1301Gly Uncertain significance Single submitter
- DMXL1 p.Asp1385Glu Uncertain significance Single submitter
- DMXL1 p.Asp1462Gly Uncertain significance Single submitter
- DMXL1 p.Asp1597Gly Uncertain significance Single submitter
- DMXL1 p.Asp1800Gly Uncertain significance Single submitter
- DMXL1 p.Asp1973His Uncertain significance Single submitter
- DMXL1 p.Asp1994Asn Uncertain significance Single submitter
- DMXL1 p.Asp2079Gly Uncertain significance Single submitter
- DMXL1 p.Asp2102Gly Uncertain significance Single submitter
- DMXL1 p.Asp2467His Uncertain significance Single submitter
- DMXL1 p.Asp2468Tyr Uncertain significance Single submitter
- DMXL1 p.Asp2689Val Uncertain significance Single submitter
- DMXL1 p.Asp2705Asn Uncertain significance Single submitter
- DMXL1 p.Asp339Val Uncertain significance Single submitter
- DMXL1 p.Asp433His Uncertain significance Single submitter
- DMXL1 p.Asp459His Uncertain significance Single submitter
- DMXL1 p.Asp901Val Uncertain significance Single submitter
- DMXL1 p.Cys1083Tyr Uncertain significance Single submitter
- DMXL1 p.Cys2400Arg Uncertain significance Single submitter
- DMXL1 p.Cys543Ser Uncertain significance Single submitter
- DMXL1 p.Cys874Trp Uncertain significance Single submitter
- DMXL1 p.Gln106His Uncertain significance Single submitter
- DMXL1 p.Gln1122Arg Uncertain significance Single submitter
- DMXL1 p.Gln1291Arg Uncertain significance Single submitter
- DMXL1 p.Gln1487Arg Uncertain significance Single submitter
- DMXL1 p.Gln1793Lys Uncertain significance Single submitter
- DMXL1 p.Gln216Arg Uncertain significance Single submitter
- DMXL1 p.Gln2389Glu Uncertain significance Single submitter
- DMXL1 p.Gln26Arg Uncertain significance Single submitter
- DMXL1 p.Gln338Glu Uncertain significance Single submitter
- DMXL1 p.Gln431His Uncertain significance Single submitter
- DMXL1 p.Gln69Glu Uncertain significance Single submitter
- DMXL1 p.Gln69Lys Uncertain significance Single submitter
- DMXL1 p.Gln910Glu Uncertain significance Single submitter
- DMXL1 p.Gln953His Uncertain significance Single submitter
- DMXL1 p.Glu1031Ala Uncertain significance Single submitter
- DMXL1 p.Glu1356Lys Uncertain significance Single submitter
- DMXL1 p.Glu1673Asp Uncertain significance Single submitter
- DMXL1 p.Glu1876Asp Uncertain significance Single submitter
- DMXL1 p.Glu2013Gln Uncertain significance Single submitter
- DMXL1 p.Glu2082Lys Uncertain significance Single submitter
- DMXL1 p.Glu2093Gly Uncertain significance Single submitter
- DMXL1 p.Glu2606Asp Uncertain significance Single submitter
- DMXL1 p.Glu2962Gln Uncertain significance Single submitter
- DMXL1 p.Glu311Lys Uncertain significance Single submitter
- DMXL1 p.Glu423Gln Uncertain significance Single submitter
- DMXL1 p.Glu679Lys Uncertain significance Single submitter
- DMXL1 p.Glu680Lys Uncertain significance Single submitter
- DMXL1 p.Glu865Ala Uncertain significance Single submitter
- DMXL1 p.Glu959Gly Uncertain significance Single submitter
- DMXL1 p.Gly1015Ala Uncertain significance Single submitter
- DMXL1 p.Gly1033Arg Uncertain significance Single submitter
- DMXL1 p.Gly1829Glu Uncertain significance Single submitter
- DMXL1 p.Gly1933Val Uncertain significance Single submitter
- DMXL1 p.Gly1938Arg Uncertain significance Single submitter
- DMXL1 p.Gly219Arg Uncertain significance Single submitter
- DMXL1 p.Gly2279Arg Uncertain significance Single submitter
- DMXL1 p.Gly2314Ala Uncertain significance Single submitter
- DMXL1 p.Gly24Val Uncertain significance Single submitter
- DMXL1 p.Gly2564Ala Uncertain significance Single submitter
- DMXL1 p.Gly2806Val Uncertain significance Single submitter
- DMXL1 p.Gly443Cys Uncertain significance Single submitter
- DMXL1 p.His114Arg Uncertain significance Single submitter
- DMXL1 p.His1457Tyr Uncertain significance Single submitter
- DMXL1 p.His16Arg Uncertain significance Single submitter
- DMXL1 p.His1820Arg Uncertain significance Single submitter
- DMXL1 p.His2105Tyr Uncertain significance Single submitter
- DMXL1 p.His2250Gln Uncertain significance Single submitter
- DMXL1 p.His2365Arg Uncertain significance Single submitter
- DMXL1 p.His2365Tyr Uncertain significance Single submitter
- DMXL1 p.His2586Arg Uncertain significance Single submitter
- DMXL1 p.His2736Tyr Uncertain significance Single submitter
- DMXL1 p.His285Arg Uncertain significance Single submitter
- DMXL1 p.His2948Arg Uncertain significance Single submitter
- DMXL1 p.His330Arg Uncertain significance Single submitter
- DMXL1 p.His350Tyr Uncertain significance Single submitter
- DMXL1 p.His823Arg Uncertain significance Single submitter
- DMXL1 p.His914Arg Uncertain significance Single submitter
- DMXL1 p.Ile1017Val Uncertain significance Single submitter
- DMXL1 p.Ile1030Thr Uncertain significance Single submitter
- DMXL1 p.Ile1097Val Uncertain significance Single submitter
- DMXL1 p.Ile112Thr Uncertain significance Single submitter
- DMXL1 p.Ile116Met Uncertain significance Single submitter
- DMXL1 p.Ile1251Lys Uncertain significance Single submitter
- DMXL1 p.Ile1251Val Uncertain significance Single submitter
- DMXL1 p.Ile1262Arg Uncertain significance Single submitter
- DMXL1 p.Ile1262Val Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- DMXL1 p.Arg2674Ser Uncertain significance Single submitter
- DMXL1 p.Asn2675Lys Uncertain significance Single submitter
- DMXL1 p.Asp1472Glu Uncertain significance Single submitter
- DMXL1 p.Gly1044Ala Uncertain significance Single submitter
- DMXL1 p.Gly562Arg Uncertain significance Single submitter
- DMXL1 p.Ile2719Thr Uncertain significance Single submitter
- DMXL1 p.Ile963Thr Uncertain significance Single submitter
- DMXL1 p.Leu1093His Uncertain significance Single submitter
- DMXL1 p.Leu1374Pro Uncertain significance Single submitter
- DMXL1 p.Lys2528Asn Uncertain significance Single submitter
- DMXL1 p.Met1589Ile Uncertain significance Single submitter
- DMXL1 p.Met1881Thr Uncertain significance Single submitter
- DMXL1 p.Phe2823Leu Uncertain significance Single submitter
- DMXL1 p.Pro13Arg Uncertain significance Single submitter
- DMXL1 p.Ser1050Asn Uncertain significance Single submitter
- DMXL1 p.Ser1379Arg Uncertain significance Single submitter
- DMXL1 p.Ser362Asn Uncertain significance Single submitter
- DMXL1 p.Thr2261Ile Uncertain significance Single submitter
- DMXL1 p.Tyr2057Cys Uncertain significance Single submitter
All DMXL1 variants
Conflicting classifications of pathogenicity 4
- p.Asn1763Ser Single submitter ⚠
- p.Gly2754Asp Single submitter
- p.Pro451Thr Single submitter ⚠
- p.Thr1993Pro Single submitter ⚠
Benign 54
- c.4970+24del Single submitter
- p.Ala2672= Single submitter
- p.Asn12= Single submitter
- p.Asn2463del Single submitter
- p.Asn2463Ser Single submitter
- p.Asp1107Tyr Single submitter
- p.Asp1149= Single submitter
- p.Gln1926Arg Single submitter
- p.Glu1094= Single submitter
- p.Glu1985Gln Single submitter
- p.Ile1040Val Single submitter
- p.Ile2000Val Single submitter
- p.Leu2157= Single submitter
- p.Ser1319= Single submitter
- p.Ser217= Single submitter
- p.Thr1398= Single submitter
- p.Thr1431= Single submitter
- p.Thr2107Ser Single submitter
- p.Thr2577= Single submitter
- p.Thr2931= Single submitter
- p.Thr387= Single submitter
- p.Val2067Met Single submitter
- c.5398+8G>A No assertion criteria DMXL1-related disorder
- c.6759-10T>C No assertion criteria DMXL1-related disorder
- p.Ala2358Thr No assertion criteria DMXL1-related disorder
- p.Ala2419= No assertion criteria DMXL1-related disorder
- p.Ala2666= No assertion criteria DMXL1-related disorder
- p.Ala907= No assertion criteria DMXL1-related disorder
- p.Arg203Gln No assertion criteria DMXL1-related disorder
- p.Asn313= No assertion criteria DMXL1-related disorder
- p.Asp1597Asn No assertion criteria DMXL1-related disorder
- p.Cys1239Ser No assertion criteria DMXL1-related disorder
- p.Cys2841= No assertion criteria DMXL1-related disorder
- p.Gln2058= No assertion criteria DMXL1-related disorder
- p.Gln2531= No assertion criteria DMXL1-related disorder
- p.Gln2531His No assertion criteria DMXL1-related disorder
- p.Glu2402Ala No assertion criteria DMXL1-related disorder
- p.Glu906Lys No assertion criteria DMXL1-related disorder
- p.Leu1587= No assertion criteria DMXL1-related disorder
- p.Leu1898Pro No assertion criteria DMXL1-related disorder
- p.Lys1887= No assertion criteria DMXL1-related disorder
- p.Met1589Val No assertion criteria DMXL1-related disorder
- p.Pro370= No assertion criteria DMXL1-related disorder
- p.Ser1039Cys No assertion criteria DMXL1-related disorder
- p.Ser851Asn No assertion criteria DMXL1-related disorder
- p.Ser905= No assertion criteria DMXL1-related disorder
- p.Thr1259Ile No assertion criteria DMXL1-related disorder
- p.Thr2107= No assertion criteria DMXL1-related disorder
- p.Thr2298Ser No assertion criteria DMXL1-related disorder
- p.Tyr1476Cys No assertion criteria DMXL1-related disorder
- p.Val195= No assertion criteria DMXL1-related disorder
- p.Val2039= No assertion criteria DMXL1-related disorder
- p.Val3004= No assertion criteria DMXL1-related disorder
- p.Val648Ile No assertion criteria DMXL1-related disorder
Benign/Likely benign 1
- p.Ser466Arg Multiple submitters
Likely benign 39
- c.1315+8T>C Single submitter
- p.Ala424= Single submitter
- p.Arg1746His Single submitter
- p.Asn2189Ser Single submitter
- p.Asn2463= Single submitter
- p.Asn2463Asp Single submitter
- p.Cys2937Arg Single submitter
- p.Glu1675Asp Single submitter
- p.Gly568Ser Single submitter
- p.Ile1251Thr Single submitter
- p.Leu731= Single submitter
- p.Leu853Ser Single submitter
- p.Lys1434Asn Single submitter
- p.Pro2442= Single submitter
- p.Thr138Ala Single submitter
- p.Tyr131Cys Single submitter
- p.Tyr1892Cys Single submitter
- p.Val1209= Single submitter
- p.Val900Ile Single submitter
- c.6887-7G>A No assertion criteria DMXL1-related disorder
- c.7543+6A>G No assertion criteria DMXL1-related disorder
- c.8467-8T>C No assertion criteria DMXL1-related disorder
- p.Ala2404= No assertion criteria DMXL1-related disorder
- p.Arg1632= No assertion criteria DMXL1-related disorder
- p.Asp1100Gly No assertion criteria DMXL1-related disorder
- p.Asp692= No assertion criteria DMXL1-related disorder
- p.Gln1268= No assertion criteria DMXL1-related disorder
- p.Gln2071= No assertion criteria DMXL1-related disorder
- p.Gln307= No assertion criteria DMXL1-related disorder
- p.Glu2449= No assertion criteria DMXL1-related disorder
- p.Glu2636Gln No assertion criteria DMXL1-related disorder
- p.Gly332= No assertion criteria DMXL1-related disorder
- p.His2524= No assertion criteria DMXL1-related disorder
- p.Ile2346= No assertion criteria DMXL1-related disorder
- p.Leu1689= No assertion criteria DMXL1-related disorder
- p.Leu2530= No assertion criteria DMXL1-related disorder
- p.Leu88= No assertion criteria DMXL1-related disorder
- p.Thr1041= No assertion criteria DMXL1-related disorder
- p.Thr2316= No assertion criteria DMXL1-related disorder
Uncertain significance 431
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala113Thr Single submitter ⚠
- p.Ala1344Thr Single submitter
- p.Ala1728Thr Single submitter ⚠
- p.Ala1874Ser Single submitter
- p.Ala2100Val Single submitter ⚠
- p.Ala2185Val Single submitter ⚠
- p.Ala2292Gly Single submitter ⚠
- p.Ala2411Thr Single submitter ⚠
- p.Ala2411Val Single submitter ⚠
- p.Ala2419Val Single submitter ⚠
- p.Ala2448Gly Single submitter ⚠
- p.Ala2448Val Single submitter ⚠
- p.Ala2509Val Single submitter ⚠
- p.Ala2553Val Single submitter ⚠
- p.Ala2557Thr Single submitter ⚠
- p.Ala2557Val Single submitter ⚠
- p.Ala2572Val Single submitter ⚠
- p.Ala2680Ser Single submitter ⚠
- p.Ala2721Thr Single submitter ⚠
- p.Ala2894Val Single submitter ⚠
- p.Ala326Gly Single submitter ⚠
- p.Ala424Ser Single submitter ⚠
- p.Ala694Thr Single submitter ⚠
- p.Ala694Val Single submitter ⚠
- p.Ala970Ser Single submitter
- p.Ala981Ser Single submitter ⚠
- p.Arg1045Gly Single submitter ⚠
- p.Arg1223Gln Single submitter
- p.Arg1340Gln Single submitter
- p.Arg1340Trp Single submitter
- p.Arg1527Gln Single submitter ⚠
- p.Arg1561Gln Single submitter ⚠
- p.Arg1613Gln Single submitter
- p.Arg1616His Single submitter ⚠
- p.Arg1619His Single submitter
- p.Arg1746Cys Single submitter ⚠
- p.Arg1746Leu Single submitter ⚠
- p.Arg1818Thr Single submitter
- p.Arg1856Cys Single submitter ⚠
- p.Arg1991Lys Single submitter ⚠
- p.Arg2056Cys Single submitter ⚠
- p.Arg2120Ile Single submitter
- p.Arg232Gln Single submitter
- p.Arg2392Cys Single submitter ⚠
- p.Arg2392His Single submitter ⚠
- p.Arg2617Trp Single submitter ⚠
- p.Arg2655Ile Single submitter
- p.Arg2674Ser Single submitter ⚠
- p.Arg2722Cys Single submitter ⚠
- p.Arg305Gln Single submitter ⚠
- p.Arg305Ter Single submitter DMXL1-related disorder
- p.Arg322Lys Single submitter ⚠
- p.Arg520His Single submitter
- p.Arg571His Single submitter ⚠
- p.Arg637Cys Single submitter
- p.Arg879Cys Single submitter ⚠
- p.Asn1115Asp Single submitter ⚠
- p.Asn1428Asp Single submitter ⚠
- p.Asn1436Thr Single submitter ⚠
- p.Asn1765Ser Single submitter ⚠
- p.Asn1972Asp Single submitter ⚠
- p.Asn2115His Single submitter ⚠
- p.Asn2226Asp Single submitter ⚠
- p.Asn2390Ser Single submitter ⚠
- p.Asn2611His Single submitter ⚠
- p.Asn2620Ser Single submitter ⚠
- p.Asn2670Ser Single submitter
- p.Asn2675Lys Single submitter ⚠
- p.Asn2883Ser Single submitter ⚠
- p.Asn2972Ser Single submitter ⚠
- p.Asn346Asp Single submitter ⚠
- p.Asn352Ser Single submitter ⚠
- p.Asn596Thr Single submitter ⚠
- p.Asn659Asp Single submitter
- p.Asn687Lys Single submitter ⚠
- p.Asn687Ser Single submitter ⚠
- p.Asn886Asp Single submitter ⚠
- p.Asn94His Single submitter ⚠
- p.Asp1018Tyr Single submitter ⚠
- p.Asp1107Asn Single submitter ⚠
- p.Asp1123Val Single submitter ⚠
- p.Asp1210His Single submitter ⚠
- p.Asp1301Gly Single submitter ⚠
- p.Asp1385Glu Single submitter ⚠
- p.Asp1462Gly Single submitter ⚠
- p.Asp1472Glu Single submitter ⚠
- p.Asp1597Gly Single submitter ⚠
- p.Asp1800Gly Single submitter ⚠
- p.Asp1973His Single submitter ⚠
- p.Asp1994Asn Single submitter ⚠
- p.Asp2075Glu Single submitter
- p.Asp2079Gly Single submitter ⚠
- p.Asp2099Tyr Single submitter
- p.Asp2102Gly Single submitter ⚠
- p.Asp2467His Single submitter ⚠
- p.Asp2468Tyr Single submitter ⚠
- p.Asp2512His Single submitter
- p.Asp2689Val Single submitter ⚠
- p.Asp2705Asn Single submitter ⚠
- p.Asp2705Gly Single submitter
- p.Asp2829Gly Single submitter
- p.Asp2907Tyr Single submitter
- p.Asp339Val Single submitter ⚠
- p.Asp433His Single submitter ⚠
- p.Asp459His Single submitter ⚠
- p.Asp778His Single submitter
- p.Asp901Val Single submitter ⚠
- p.Cys1083Tyr Single submitter ⚠
- p.Cys1233Arg Single submitter
- p.Cys2320Phe Single submitter
- p.Cys2320Ser Single submitter
- p.Cys2400Arg Single submitter ⚠
- p.Cys543Ser Single submitter ⚠
- p.Cys874Trp Single submitter ⚠
- p.Gln106His Single submitter ⚠
- p.Gln1122Arg Single submitter ⚠
- p.Gln1291Arg Single submitter ⚠
- p.Gln1487Arg Single submitter ⚠
- p.Gln1567Pro Single submitter
- p.Gln1692His Single submitter
- p.Gln1793Lys Single submitter ⚠
- p.Gln216Arg Single submitter ⚠
- p.Gln2244Lys Single submitter
- p.Gln2389Glu Single submitter ⚠
- p.Gln2531Leu Single submitter
- p.Gln26Arg Single submitter ⚠
- p.Gln338Glu Single submitter ⚠
- p.Gln431His Single submitter ⚠
- p.Gln69Glu Single submitter ⚠
- p.Gln69Lys Single submitter ⚠
- p.Gln910Glu Single submitter ⚠
- p.Gln953Arg Single submitter
- p.Gln953His Single submitter ⚠
- p.Glu1031Ala Single submitter ⚠
- p.Glu1356Lys Single submitter ⚠
- p.Glu1673Asp Single submitter ⚠
- p.Glu1876Asp Single submitter ⚠
- p.Glu2013Gln Single submitter ⚠
- p.Glu2082Lys Single submitter ⚠
- p.Glu2093Gly Single submitter ⚠
- p.Glu2428Val Single submitter
- p.Glu2606Asp Single submitter ⚠
- p.Glu2660Lys Single submitter
- p.Glu2962Gln Single submitter ⚠
- p.Glu2962Gly Single submitter
- p.Glu2970Lys Single submitter
- p.Glu311Lys Single submitter ⚠
- p.Glu407Lys Single submitter
- p.Glu423Gln Single submitter ⚠
- p.Glu617Lys Single submitter
- p.Glu679Lys Single submitter ⚠
- p.Glu680Lys Single submitter ⚠
- p.Glu865Ala Single submitter ⚠
- p.Glu959Gly Single submitter ⚠
- p.Gly1015Ala Single submitter ⚠
- p.Gly1033Arg Single submitter ⚠
- p.Gly1044Ala Single submitter ⚠
- p.Gly1705Ser Single submitter
- p.Gly1751Glu Single submitter
- p.Gly1829Glu Single submitter ⚠
- p.Gly1933Val Single submitter ⚠
- p.Gly1938Arg Single submitter ⚠
- p.Gly219Arg Single submitter ⚠
- p.Gly2279Arg Single submitter ⚠
- p.Gly2314Ala Single submitter ⚠
- p.Gly24Val Single submitter ⚠
- p.Gly2564Ala Single submitter ⚠
- p.Gly2564Val Single submitter
- p.Gly2806Val Single submitter ⚠
- p.Gly388Arg Single submitter
- p.Gly443Cys Single submitter ⚠
- p.Gly562Arg Single submitter ⚠
- p.Gly796Val Single submitter
- p.His114Arg Single submitter ⚠
- p.His1152Tyr Single submitter
- p.His1457Tyr Single submitter ⚠
- p.His1492Arg Single submitter
- p.His1696Gln Single submitter
- p.His16Arg Single submitter ⚠
- p.His1820Arg Single submitter ⚠
- p.His2105Tyr Single submitter ⚠
- p.His2206Asp Single submitter
- p.His2250Gln Single submitter ⚠
- p.His2365Arg Single submitter ⚠
- p.His2365Tyr Single submitter ⚠
- p.His2586Arg Single submitter ⚠
- p.His2736Tyr Single submitter ⚠
- p.His285Arg Single submitter ⚠
- p.His2948Arg Single submitter ⚠
- p.His330Arg Single submitter ⚠
- p.His350Tyr Single submitter ⚠
- p.His497Tyr Single submitter
- p.His823Arg Single submitter ⚠
- p.His831Arg Single submitter
- p.His914Arg Single submitter ⚠
- p.Ile1017Val Single submitter ⚠
- p.Ile1030Thr Single submitter ⚠
- p.Ile1097Val Single submitter ⚠
- p.Ile112Thr Single submitter ⚠
- p.Ile1158Thr Single submitter
- p.Ile116Met Single submitter ⚠
- p.Ile1251Lys Single submitter ⚠
- p.Ile1251Val Single submitter ⚠
- p.Ile1262Arg Single submitter ⚠
- p.Ile1262Val Single submitter ⚠
- p.Ile1516Val Single submitter ⚠
- p.Ile1641Val Single submitter ⚠
- p.Ile1652Met Single submitter ⚠
- p.Ile1711Val Single submitter ⚠
- p.Ile1721Leu Single submitter ⚠
- p.Ile1764Val Single submitter ⚠
- p.Ile1791Met Single submitter
- p.Ile221Met Single submitter ⚠
- p.Ile2567Val Single submitter ⚠
- p.Ile2643Val Single submitter ⚠
- p.Ile2679Val Single submitter ⚠
- p.Ile2719Thr Single submitter ⚠
- p.Ile363Val Single submitter
- p.Ile375Val Single submitter ⚠
- p.Ile475Val Single submitter ⚠
- p.Ile546Val Single submitter ⚠
- p.Ile559Leu Single submitter ⚠
- p.Ile559Val Single submitter ⚠
- p.Ile577Met Single submitter ⚠
- p.Ile801Val Single submitter ⚠
- p.Ile963Thr Single submitter ⚠
- p.Ile978Val Single submitter ⚠
- p.Leu1093His Single submitter ⚠
- p.Leu1311Ile Single submitter
- p.Leu1374Pro Single submitter ⚠
- p.Leu1408Phe Single submitter
- p.Leu1446His Single submitter
- p.Leu1446Phe Single submitter ⚠
- p.Leu1446Val Single submitter ⚠
- p.Leu1459Phe Single submitter DMXL1-related disorder ⚠
- p.Leu1459Ser Single submitter ⚠
- p.Leu1494His Single submitter
- p.Leu149Val Single submitter ⚠
- p.Leu1553Ile Single submitter ⚠
- p.Leu1730Phe Single submitter
- p.Leu1762Phe Single submitter ⚠
- p.Leu1875Phe Single submitter
- p.Leu1964Ser Single submitter
- p.Leu1986Val Single submitter ⚠
- p.Leu2037Phe Single submitter
- p.Leu2103Met Single submitter ⚠
- p.Leu2112Pro Single submitter
- p.Leu2129Val Single submitter
- p.Leu2182Val Single submitter
- p.Leu2209Phe Single submitter
- p.Leu2234Ser Single submitter
- p.Leu2315Phe Single submitter ⚠
- p.Leu2318Phe Single submitter ⚠
- p.Leu2335Val Single submitter ⚠
- p.Leu2530Val Single submitter ⚠
- p.Leu2537Phe Single submitter ⚠
- p.Leu2538Phe Single submitter ⚠
- p.Leu2589Val Single submitter ⚠
- p.Leu2725Phe Single submitter ⚠
- p.Leu2781Met Single submitter ⚠
- p.Leu2913Ile Single submitter ⚠
- p.Leu3036Phe Single submitter ⚠
- p.Leu325Val Single submitter ⚠
- p.Leu869Val Single submitter ⚠
- p.Lys1178Arg Single submitter ⚠
- p.Lys1190Asn Single submitter ⚠
- p.Lys1246Glu Single submitter ⚠
- p.Lys1279Glu Single submitter ⚠
- p.Lys1292Arg Single submitter ⚠
- p.Lys1467Asn Single submitter ⚠
- p.Lys1747Glu Single submitter ⚠
- p.Lys1748Gln Single submitter ⚠
- p.Lys1843Glu Single submitter ⚠
- p.Lys1886Asn Single submitter ⚠
- p.Lys1902Glu Single submitter ⚠
- p.Lys2125Gln Single submitter
- p.Lys2528Asn Single submitter ⚠
- p.Lys435Thr Single submitter ⚠
- p.Lys488Glu Single submitter ⚠
- p.Lys688Arg Single submitter ⚠
- p.Met1145Ile Single submitter ⚠
- p.Met1306Ile Single submitter ⚠
- p.Met1306Lys Single submitter ⚠
- p.Met1334Thr Single submitter
- p.Met1589Ile Single submitter ⚠
- p.Met1593Val Single submitter ⚠
- p.Met1881Thr Single submitter ⚠
- p.Met1983Val Single submitter ⚠
- p.Met2745Val Single submitter ⚠
- p.Met575Leu Single submitter ⚠
- p.Met575Val Single submitter ⚠
- p.Met67Ile Single submitter ⚠
- p.Met67Val Single submitter ⚠
- p.Phe1813Leu Single submitter
- p.Phe2116Ser Single submitter
- p.Phe2823Leu Single submitter ⚠
- p.Phe296Leu Single submitter ⚠
- p.Phe926Ser Single submitter ⚠
- p.Pro120Leu Single submitter ⚠
- p.Pro1213Ser Single submitter ⚠