CMYA5 — 671 ClinVar variants

All ClinVar germline CMYA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 509 flagged for review →

4 Conflicting · 28 Benign · 9 Benign/Likely benign · 84 Likely benign · 546 Uncertain significance

Full CMYA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 509

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 496

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 496

Predictors split 10

The independent predictors disagree with each other — read with care.

All CMYA5 variants

Conflicting classifications of pathogenicity 4

p.Ala1696Gly Single submitter ⚠
p.Gly105Arg Single submitter
p.Pro959Leu Single submitter ⚠
p.Ser3941Phe Single submitter ⚠

Benign 28

p.Arg147Gln Multiple submitters
p.Asp836= Multiple submitters
p.Gln175His Multiple submitters
p.Glu2017Gly Multiple submitters
p.Glu35Lys Multiple submitters
p.Gly305= Multiple submitters
p.Gly404= Multiple submitters
p.Ile2113Thr Multiple submitters
p.Leu1533= Multiple submitters
p.Pro367= Multiple submitters
p.Ser234= Multiple submitters
p.Ala471Thr Single submitter
p.Arg3826Gln Single submitter
p.Asn3370Asp Single submitter
p.Asp3328= Single submitter
p.Gly2685Cys Single submitter
p.Leu2769= Single submitter
p.Leu3561= Single submitter
p.Leu608= Single submitter
p.Lys2383Glu Single submitter
p.Met2601Thr Single submitter
p.Met2782Leu Single submitter
p.Pro2164= Single submitter
p.Pro2808= Single submitter
p.Pro343Ser Single submitter
p.Pro4063Leu Single submitter
p.Tyr2320His Single submitter
p.Tyr3875= Single submitter

Benign/Likely benign 9

p.Asp3147Tyr Multiple submitters
p.Gln1111= Multiple submitters
p.Glu584Ala Multiple submitters
p.Lys1890= Multiple submitters
p.Lys2493Asn Multiple submitters
p.Lys3617= Multiple submitters
p.Pro3519Gln Multiple submitters ⚠
p.Ser1725Leu Multiple submitters
p.Ser2012Phe Multiple submitters

Likely benign 84

p.Ala2958Ser Multiple submitters
p.Asp53Glu Multiple submitters
p.Gln1648Arg Multiple submitters
p.Ile3577Val Multiple submitters
p.Pro3712Ser Multiple submitters
p.Ser1725= Multiple submitters
p.Thr335Ile Multiple submitters
p.Thr3833= Multiple submitters
p.Thr861= Multiple submitters
c.10992-3T>C Single submitter
c.11789+8G>C Single submitter
p.Ala1147Thr Single submitter
p.Ala1407Thr Single submitter
p.Ala1690Val Single submitter
p.Ala1875= Single submitter
p.Ala1964Thr Single submitter
p.Ala2565= Single submitter
p.Ala2600Thr Single submitter
p.Ala2830Thr Single submitter
p.Ala3467Val Single submitter
p.Ala3470Val Single submitter
p.Ala419Thr Single submitter
p.Ala913Ser Single submitter
p.Arg1385His Single submitter
p.Arg1507His Single submitter
p.Arg2643His Single submitter
p.Arg2838Gln Single submitter
p.Arg285Cys Single submitter
p.Arg3351His Single submitter
p.Asn2829Ser Single submitter
p.Asn3019Ser Single submitter
p.Asp2511Asn Single submitter
p.Gln2153Glu Single submitter
p.Glu2645= Single submitter
p.Glu2647Asp Single submitter
p.Glu2981Lys Single submitter
p.Glu3732Asp Single submitter
p.Glu3754Asp Single submitter
p.Gly105= Single submitter
p.Gly1471Glu Single submitter
p.Gly277Asp Single submitter
p.Gly2924Asp Single submitter
p.Gly482= Single submitter
p.Gly783Glu Single submitter
p.His3358= Single submitter
p.His777= Single submitter
p.Ile1008Val Single submitter
p.Ile1537Val Single submitter
p.Ile2335Val Single submitter
p.Leu1632= Single submitter
p.Leu2028= Single submitter
p.Leu3253Val Single submitter
p.Leu3959= Single submitter
p.Leu566Ser Single submitter
p.Leu705= Single submitter
p.Lys1063= Single submitter
p.Lys2506Glu Single submitter
p.Lys3028Glu Single submitter
p.Lys3321Arg Single submitter
p.Pro1814Leu Single submitter
p.Pro2051Ser Single submitter
p.Pro2075Leu Single submitter
p.Pro2814Ser Single submitter
p.Pro2959= Single submitter
p.Pro3153Leu Single submitter
p.Pro3187= Single submitter
p.Pro458Leu Single submitter
p.Pro931Ser Single submitter
p.Ser1321Pro Single submitter
p.Ser1722Asn Single submitter
p.Ser2270= Single submitter
p.Ser543= Single submitter
p.Thr1939Ile Single submitter
p.Thr2595Ile Single submitter
p.Thr84= Single submitter
p.Tyr3957His Single submitter
p.Tyr879His Single submitter
p.Val1146Ala Single submitter
p.Val1247Ile Single submitter
p.Val1613Ile Single submitter
p.Val1802Leu Single submitter
p.Val2480Met Single submitter
p.Val3317Ile Single submitter
p.Val3329Ile Single submitter

Uncertain significance 546

Showing the top 300 by review status; the full set is in the sitemap.

p.Gln1229His Multiple submitters ⚠
p.Pro1256Leu Multiple submitters ⚠
p.Val121Leu Multiple submitters ⚠
c.11555+1G>T Single submitter
p.Ala1050Thr Single submitter ⚠
p.Ala1051Asp Single submitter ⚠
p.Ala1189Thr Single submitter ⚠
p.Ala1216Val Single submitter ⚠
p.Ala1335Ser Single submitter ⚠
p.Ala1368Glu Single submitter ⚠
p.Ala1424Val Single submitter ⚠
p.Ala1439Val Single submitter ⚠
p.Ala1696Val Single submitter ⚠
p.Ala1964Val Single submitter ⚠
p.Ala2213Thr Single submitter ⚠
p.Ala2512Gly Single submitter ⚠
p.Ala2612Val Single submitter ⚠
p.Ala2614Thr Single submitter ⚠
p.Ala2639Val Single submitter ⚠
p.Ala265Ser Single submitter ⚠
p.Ala2824Ser Single submitter ⚠
p.Ala2830Val Single submitter ⚠
p.Ala2876Glu Single submitter ⚠
p.Ala2876Gly Single submitter ⚠
p.Ala2888Pro Single submitter ⚠
p.Ala289Pro Single submitter ⚠
p.Ala2934Asp Single submitter ⚠
p.Ala2984Val Single submitter ⚠
p.Ala2999Val Single submitter ⚠
p.Ala306Thr Single submitter ⚠
p.Ala3101Val Single submitter ⚠
p.Ala3190Gly Single submitter ⚠
p.Ala3318Val Single submitter ⚠
p.Ala3339Val Single submitter ⚠
p.Ala3365Gly Single submitter ⚠
p.Ala3365Pro Single submitter ⚠
p.Ala3607Ser Single submitter ⚠
p.Ala371Thr Single submitter ⚠
p.Ala3811Thr Single submitter ⚠
p.Ala3910Val Single submitter ⚠
p.Ala3956Glu Single submitter
p.Ala516Val Single submitter ⚠
p.Ala623Thr Single submitter ⚠
p.Ala706Ser Single submitter ⚠
p.Arg109Gln Single submitter ⚠
p.Arg109Trp Single submitter ⚠
p.Arg1205Gly Single submitter ⚠
p.Arg132Gln Single submitter ⚠
p.Arg132Trp Single submitter ⚠
p.Arg1385Cys Single submitter ⚠
p.Arg153Ile Single submitter ⚠
p.Arg1858Gly Single submitter ⚠
p.Arg2132Lys Single submitter ⚠
p.Arg2643Cys Single submitter ⚠
p.Arg2643Leu Single submitter ⚠
p.Arg2708Gly Single submitter ⚠
p.Arg2793Gly Single submitter ⚠
p.Arg2797Cys Single submitter ⚠
p.Arg2838Pro Single submitter ⚠
p.Arg285His Single submitter ⚠
p.Arg2880Cys Single submitter ⚠
p.Arg3007Ser Single submitter ⚠
p.Arg3167Gln Single submitter ⚠
p.Arg3587Ser Single submitter ⚠
p.Arg3824Gln Single submitter
p.Arg3826Trp Single submitter ⚠
p.Arg3877Lys Single submitter ⚠
p.Arg3926Lys Single submitter ⚠
p.Arg3927Trp Single submitter
p.Arg4005His Single submitter ⚠
p.Arg465Lys Single submitter ⚠
p.Arg717Cys Single submitter ⚠
p.Arg892Gln Single submitter ⚠
p.Asn150Lys Single submitter ⚠
p.Asn150Ser Single submitter ⚠
p.Asn1798Ser Single submitter ⚠
p.Asn2459Ser Single submitter ⚠
p.Asn2462Ser Single submitter ⚠
p.Asn275Ser Single submitter ⚠
p.Asn2898Thr Single submitter ⚠
p.Asn3139Ser Single submitter ⚠
p.Asn3360Lys Single submitter ⚠
p.Asn3575Ser Single submitter ⚠
p.Asn3662Ser Single submitter ⚠
p.Asn3869Ser Single submitter ⚠
p.Asn3880Ser Single submitter
p.Asp1077Glu Single submitter ⚠
p.Asp1175Gly Single submitter ⚠
p.Asp1196His Single submitter ⚠
p.Asp1212His Single submitter ⚠
p.Asp1484Glu Single submitter ⚠
p.Asp1589Glu Single submitter ⚠
p.Asp1590Val Single submitter ⚠
p.Asp17Asn Single submitter ⚠
p.Asp1816Val Single submitter ⚠
p.Asp1838Asn Single submitter ⚠
p.Asp1848Gly Single submitter ⚠
p.Asp2115Glu Single submitter ⚠
p.Asp2165Tyr Single submitter ⚠
p.Asp2235His Single submitter ⚠
p.Asp2274Gly Single submitter ⚠
p.Asp2369Glu Single submitter ⚠
p.Asp2487Gly Single submitter ⚠
p.Asp2756Glu Single submitter ⚠
p.Asp2856Tyr Single submitter ⚠
p.Asp2860Asn Single submitter ⚠
p.Asp2919Gly Single submitter ⚠
p.Asp2975Tyr Single submitter ⚠
p.Asp3137Glu Single submitter ⚠
p.Asp3231Asn Single submitter ⚠
p.Asp3231Glu Single submitter ⚠
p.Asp3271Asn Single submitter ⚠
p.Asp3271Glu Single submitter ⚠
p.Asp3328Asn Single submitter ⚠
p.Asp3776Glu Single submitter
p.Asp37Asn Single submitter ⚠
p.Asp426Asn Single submitter ⚠
p.Asp48His Single submitter ⚠
p.Asp535Glu Single submitter ⚠
p.Asp603Asn Single submitter ⚠
p.Asp836His Single submitter ⚠
p.Cys2730Trp Single submitter ⚠
p.Cys3000Ser Single submitter ⚠
p.Cys3516Tyr Single submitter
p.Cys3768Gly Single submitter
p.Cys689Ser Single submitter ⚠
p.Cys972Phe Single submitter ⚠
p.Gln1062Arg Single submitter ⚠
p.Gln1111His Single submitter ⚠
p.Gln1156Pro Single submitter ⚠
p.Gln1804His Single submitter ⚠
p.Gln1821His Single submitter ⚠
p.Gln1959Arg Single submitter ⚠
p.Gln2059Lys Single submitter ⚠
p.Gln2131Glu Single submitter ⚠
p.Gln2158Lys Single submitter ⚠
p.Gln2370Glu Single submitter ⚠
p.Gln2544His Single submitter ⚠
p.Gln2554His Single submitter ⚠
p.Gln2894Lys Single submitter ⚠
p.Gln2972His Single submitter ⚠
p.Gln3258Glu Single submitter ⚠
p.Gln3376Glu Single submitter ⚠
p.Gln3392Arg Single submitter ⚠
p.Gln3630Arg Single submitter ⚠
p.Gln3750Glu Single submitter ⚠
p.Gln3861Arg Single submitter
p.Gln448Arg Single submitter ⚠
p.Gln665Arg Single submitter ⚠
p.Gln766His Single submitter ⚠
p.Glu1017Ala Single submitter ⚠
p.Glu1067Ala Single submitter ⚠
p.Glu110Lys Single submitter ⚠
p.Glu1124Lys Single submitter ⚠
p.Glu1141Gly Single submitter ⚠
p.Glu1227Lys Single submitter ⚠
p.Glu1249Lys Single submitter ⚠
p.Glu1287Lys Single submitter ⚠
p.Glu1294Lys Single submitter ⚠
p.Glu1428Lys Single submitter ⚠
p.Glu1442Lys Single submitter ⚠
p.Glu1464Gln Single submitter ⚠
p.Glu1543Lys Single submitter ⚠
p.Glu1665Lys Single submitter ⚠
p.Glu1739Lys Single submitter ⚠
p.Glu1740Lys Single submitter ⚠
p.Glu1983Gln Single submitter ⚠
p.Glu2017Asp Single submitter ⚠
p.Glu2103Lys Single submitter ⚠
p.Glu2211Gly Single submitter ⚠
p.Glu2331Lys Single submitter ⚠
p.Glu2566Lys Single submitter ⚠
p.Glu2647Gln Single submitter ⚠
p.Glu2680Gly Single submitter ⚠
p.Glu270Gly Single submitter
p.Glu2768Gln Single submitter ⚠
p.Glu2784Asp Single submitter ⚠
p.Glu2801Ala Single submitter ⚠
p.Glu2996Lys Single submitter ⚠
p.Glu3009Asp Single submitter ⚠
p.Glu3080Lys Single submitter ⚠
p.Glu3119Lys Single submitter ⚠
p.Glu3199Gln Single submitter ⚠
p.Glu3312Ala Single submitter ⚠
p.Glu3448Lys Single submitter ⚠
p.Glu3589Asp Single submitter ⚠
p.Glu3648Lys Single submitter
p.Glu3924Asp Single submitter ⚠
p.Glu3948Gln Single submitter
p.Glu520Gln Single submitter ⚠
p.Glu573Lys Single submitter ⚠
p.Glu636Lys Single submitter ⚠
p.Glu683Lys Single submitter ⚠
p.Glu709Asp Single submitter ⚠
p.Glu751Gly Single submitter ⚠
p.Glu79Lys Single submitter
p.Glu862Lys Single submitter ⚠
p.Glu912Gln Single submitter ⚠
p.Glu940Lys Single submitter ⚠
p.Glu969Gln Single submitter ⚠
p.Glu969Val Single submitter ⚠
p.Glu996Val Single submitter ⚠
p.Gly1034Asp Single submitter ⚠
p.Gly1397Arg Single submitter ⚠
p.Gly1423Asp Single submitter ⚠
p.Gly1535Ser Single submitter ⚠
p.Gly1638Glu Single submitter ⚠
p.Gly2259Ser Single submitter ⚠
p.Gly246Ala Single submitter
p.Gly2532Asp Single submitter ⚠
p.Gly2704Arg Single submitter ⚠
p.Gly2772Ser Single submitter ⚠
p.Gly3235Glu Single submitter ⚠
p.Gly3363Arg Single submitter ⚠
p.Gly34Ser Single submitter ⚠
p.Gly3859Arg Single submitter ⚠
p.Gly3859Val Single submitter ⚠
p.Gly3936Ala Single submitter
p.Gly3960Ser Single submitter ⚠
p.Gly3975Glu Single submitter ⚠
p.Gly725Arg Single submitter ⚠
p.Gly837Ser Single submitter ⚠
p.His136Leu Single submitter ⚠
p.His140Asp Single submitter ⚠
p.His1938Arg Single submitter ⚠
p.His2669Asp Single submitter ⚠
p.His2731Arg Single submitter ⚠
p.His2846Leu Single submitter ⚠
p.His3025Leu Single submitter ⚠
p.His3104Gln Single submitter ⚠
p.His320Arg Single submitter ⚠
p.His3347Arg Single submitter ⚠
p.His3460Tyr Single submitter ⚠
p.His3530Gln Single submitter ⚠
p.His374Asp Single submitter ⚠
p.His3908Tyr Single submitter
p.His920Leu Single submitter ⚠
p.His920Tyr Single submitter ⚠
p.Ile124Thr Single submitter ⚠
p.Ile1279Met Single submitter ⚠
p.Ile1373Val Single submitter ⚠
p.Ile1454Thr Single submitter ⚠
p.Ile1652Met Single submitter ⚠
p.Ile1652Val Single submitter ⚠
p.Ile1661Val Single submitter ⚠
p.Ile2040Val Single submitter ⚠
p.Ile2065Ser Single submitter ⚠
p.Ile208Met Single submitter ⚠
p.Ile2128Val Single submitter ⚠
p.Ile2217Val Single submitter ⚠
p.Ile222Thr Single submitter
p.Ile2351Val Single submitter ⚠
p.Ile2361Val Single submitter ⚠
p.Ile2400Val Single submitter ⚠
p.Ile2496Met Single submitter ⚠
p.Ile2953Val Single submitter ⚠
p.Ile2962Val Single submitter ⚠
p.Ile3046Val Single submitter ⚠
p.Ile3175Thr Single submitter ⚠
p.Ile3401Val Single submitter ⚠
p.Ile3461Met Single submitter ⚠
p.Ile3799Val Single submitter ⚠
p.Ile4011Thr Single submitter
p.Ile463Thr Single submitter ⚠
p.Ile815Thr Single submitter ⚠
p.Ile942Ser Single submitter ⚠
p.Ile986Val Single submitter ⚠
p.Leu1026Pro Single submitter ⚠
p.Leu1243Phe Single submitter ⚠
p.Leu1243Ser Single submitter ⚠
p.Leu1260Gln Single submitter ⚠
p.Leu1544Phe Single submitter ⚠
p.Leu1818Pro Single submitter ⚠
p.Leu1863Trp Single submitter ⚠
p.Leu2238Ser Single submitter ⚠
p.Leu2243Arg Single submitter ⚠
p.Leu2253Ser Single submitter ⚠
p.Leu2269Phe Single submitter ⚠
p.Leu2375Phe Single submitter ⚠
p.Leu2429Phe Single submitter ⚠
p.Leu242Val Single submitter ⚠
p.Leu2820Phe Single submitter ⚠
p.Leu3082Phe Single submitter ⚠
p.Leu3102Val Single submitter ⚠
p.Leu338Ser Single submitter ⚠
p.Leu3838Gln Single submitter
p.Leu3866Phe Single submitter
p.Leu495Val Single submitter ⚠
p.Leu51Ser Single submitter ⚠
p.Leu562Phe Single submitter ⚠
p.Leu679Val Single submitter ⚠
p.Leu705Arg Single submitter ⚠
p.Leu925Pro Single submitter ⚠
p.Lys1112Arg Single submitter ⚠
p.Lys1165Glu Single submitter ⚠
p.Lys1193Gln Single submitter ⚠
p.Lys1225Asn Single submitter ⚠
p.Lys1257Arg Single submitter ⚠
p.Lys129Glu Single submitter ⚠
p.Lys1308Glu Single submitter ⚠