ADAMTS10 — 1034 ClinVar variants

All ClinVar germline ADAMTS10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 347 flagged for review →

22 Pathogenic · 15 Likely pathogenic · 38 Conflicting · 59 Benign · 14 Benign/Likely benign · 499 Likely benign · 387 Uncertain significance

Full ADAMTS10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 347

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 6

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ADAMTS10 p.Ala125Thr Conflicting Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Ala949Thr Conflicting Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Arg665His Conflicting Single submitter
Weill-Marchesani syndrome
ADAMTS10 p.Arg93His Conflicting Single submitter
Inborn genetic diseases
ADAMTS10 p.Glu807Asp Conflicting Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Gly395Arg Conflicting Single submitter
Weill-Marchesani syndrome 1

Predictors lean, ClinVar uncertain 190

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 190

ADAMTS10 p.Ala13Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Ala247Ser Uncertain significance Multiple submitters
ADAMTS10 p.Ala4Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg169Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg210Gln Uncertain significance Multiple submitters
Weill-Marchesani syndrome 1
ADAMTS10 p.Arg258Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg412His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg62Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg665Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg75His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg96Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg9Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Asp198Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Asp689Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Asp887Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Glu153Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Glu173Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Glu21Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Glu393Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Gly163Ser Uncertain significance Multiple submitters
Weill-Marchesani syndrome
ADAMTS10 p.Gly326Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Gly588Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Gly67Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.His49Arg Uncertain significance Multiple submitters
Weill-Marchesani syndrome
ADAMTS10 p.His864Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Ile382Val Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Leu112Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Leu587Val Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Lys533Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Met369Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Pro1004Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Pro215Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Pro58Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Pro59Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Pro825Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Ser1088Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Thr763Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Val196Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Val535Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Val669Leu Uncertain significance Multiple submitters
Weill-Marchesani syndrome
ADAMTS10 p.Val711Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Val910Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Ala1090Thr Uncertain significance Single submitter
Weill-Marchesani syndrome
ADAMTS10 p.Ala118Pro Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Ala118Thr Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Ala13Val Uncertain significance Single submitter
ADAMTS10 p.Ala217Val Uncertain significance Single submitter
ADAMTS10 p.Ala25Thr Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Ala411Ser Uncertain significance Single submitter
ADAMTS10 p.Ala411Val Uncertain significance Single submitter
ADAMTS10 p.Ala42Thr Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Ala70Ser Uncertain significance Single submitter
ADAMTS10 p.Ala810Pro Uncertain significance Single submitter
ADAMTS10 p.Ala817Val Uncertain significance Single submitter
ADAMTS10 p.Ala820Thr Uncertain significance Single submitter
ADAMTS10 p.Ala842Glu Uncertain significance Single submitter
ADAMTS10 p.Ala878Thr Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Ala978Ser Uncertain significance Single submitter
ADAMTS10 p.Ala983Glu Uncertain significance Single submitter
ADAMTS10 p.Arg1029Leu Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Arg1029Ser Uncertain significance Single submitter
ADAMTS10 p.Arg109Gln Uncertain significance Single submitter
ADAMTS10 p.Arg205Gln Uncertain significance Single submitter
ADAMTS10 p.Arg239Cys Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Arg27Gln Uncertain significance Single submitter
ADAMTS10 p.Arg27Pro Uncertain significance Single submitter
ADAMTS10 p.Arg290Cys Uncertain significance Single submitter
ADAMTS10 p.Arg372Cys Uncertain significance Single submitter
ADAMTS10 p.Arg438Cys Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Arg507Trp Uncertain significance Single submitter
ADAMTS10 p.Arg691Gln Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Arg691Pro Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Arg768His Uncertain significance Single submitter
ADAMTS10 p.Arg779Gln Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Arg9Pro Uncertain significance Single submitter
ADAMTS10 p.Asn401Ser Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Asn50His Uncertain significance Single submitter
ADAMTS10 p.Asn597Ser Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Asp1058His Uncertain significance Single submitter
ADAMTS10 p.Asp191His Uncertain significance Single submitter
ADAMTS10 p.Asp312Asn Uncertain significance Single submitter
ADAMTS10 p.Asp349Asn Uncertain significance Single submitter
ADAMTS10 p.Asp723Glu Uncertain significance Single submitter
ADAMTS10 p.Cys1057Ser Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Cys508Tyr Uncertain significance Single submitter
ADAMTS10 p.Cys601Phe Uncertain significance Single submitter
ADAMTS10 p.Cys695Trp Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Cys879Ser Uncertain significance Single submitter
ADAMTS10 p.Cys956Gly Uncertain significance Single submitter
ADAMTS10 p.Gln115Glu Uncertain significance Single submitter
ADAMTS10 p.Gln318His Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Gln855Glu Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Gln855Lys Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Glu1054Gln Uncertain significance Single submitter
ADAMTS10 p.Glu223Lys Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Glu31Asp Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Glu653Gly Uncertain significance Single submitter
ADAMTS10 p.Glu653Lys Uncertain significance Single submitter
ADAMTS10 p.Glu692Lys Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Glu758Asp Uncertain significance Single submitter
ADAMTS10 p.Glu807Lys Uncertain significance Single submitter
ADAMTS10 p.Gly1063Val Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Gly164Glu Uncertain significance Single submitter
ADAMTS10 p.Gly167Ala Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Gly227Ala Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Gly328Asp Uncertain significance Single submitter
ADAMTS10 p.Gly328Ser Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Gly413Asp Uncertain significance Single submitter
ADAMTS10 p.Gly529Arg Uncertain significance Single submitter
ADAMTS10 p.Gly529Glu Uncertain significance Single submitter
ADAMTS10 p.Gly588Ala Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Gly635Val Uncertain significance Single submitter
ADAMTS10 p.Gly661Arg Uncertain significance Single submitter
ADAMTS10 p.Gly681Ser Uncertain significance Single submitter
ADAMTS10 p.Gly687Val Uncertain significance Single submitter
ADAMTS10 p.Gly700Ser Uncertain significance Single submitter
ADAMTS10 p.Gly702Arg Uncertain significance Single submitter
ADAMTS10 p.Gly903Val Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Gly963Asp Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.His1039Pro Uncertain significance Single submitter
ADAMTS10 p.His162Arg Uncertain significance Single submitter
ADAMTS10 p.His187Arg Uncertain significance Single submitter
ADAMTS10 p.His189Asp Uncertain significance Single submitter
ADAMTS10 p.His396Asn Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.His49Asn Uncertain significance Single submitter
ADAMTS10 p.His869Gln Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.His86Arg Uncertain significance Single submitter
ADAMTS10 p.Ile350Val Uncertain significance Single submitter
ADAMTS10 p.Ile394Thr Uncertain significance Single submitter
ADAMTS10 p.Ile708Val Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Leu1082Val Uncertain significance Single submitter
ADAMTS10 p.Leu112Pro Uncertain significance Single submitter
Weill-Marchesani syndrome
ADAMTS10 p.Leu212Ser Uncertain significance Single submitter
ADAMTS10 p.Leu451Val Uncertain significance Single submitter
ADAMTS10 p.Leu641Pro Uncertain significance Single submitter
ADAMTS10 p.Leu741Phe Uncertain significance Single submitter
ADAMTS10 p.Leu748Pro Uncertain significance Single submitter
ADAMTS10 p.Leu756Val Uncertain significance Single submitter
ADAMTS10 p.Leu791Pro Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Lys1074Arg Uncertain significance Single submitter
ADAMTS10 p.Met19Ile Uncertain significance Single submitter
ADAMTS10 p.Met995Leu Uncertain significance Single submitter
ADAMTS10 p.Met995Val Uncertain significance Single submitter
ADAMTS10 p.Phe776Leu Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Pro171Leu Uncertain significance Single submitter
ADAMTS10 p.Pro201Arg Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Pro201Leu Uncertain significance Single submitter
ADAMTS10 p.Pro201Ser Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Pro214Arg Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Pro216Leu Uncertain significance Single submitter

Predictors split 151

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 151

ADAMTS10 p.Ala422Val Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg1093Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg186Leu Uncertain significance Multiple submitters
Weill-Marchesani syndrome
ADAMTS10 p.Arg205Trp Uncertain significance Multiple submitters
Weill-Marchesani syndrome
ADAMTS10 p.Arg210Trp Uncertain significance Multiple submitters
Weill-Marchesani syndrome
ADAMTS10 p.Arg226Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg226His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg438His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg46His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg488His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg62Gln Benign Multiple submitters
Weill-Marchesani syndrome
ADAMTS10 p.Arg62Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg632Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg65His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg66Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg684Gln Uncertain significance Multiple submitters
ADAMTS10 p.Arg691Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg696Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg821His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Arg93Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Asn454Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Asp30Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Asp925Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Cys5Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Gln489Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Glu709Lys Uncertain significance Multiple submitters
Weill-Marchesani syndrome
ADAMTS10 p.Glu73Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Glu73Lys Benign/Likely benign Multiple submitters
Weill-Marchesani syndrome
ADAMTS10 p.Glu937Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Gly308Arg Uncertain significance Multiple submitters
ADAMTS10 p.Gly359Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Gly702Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.His24Tyr Uncertain significance Multiple submitters
ADAMTS10 p.Leu112Met Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Leu970Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Lys486Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Lys627Thr Uncertain significance Multiple submitters
Weill-Marchesani syndrome
ADAMTS10 p.Ser278Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Ser34Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Ser447Leu Likely benign Multiple submitters
ADAMTS10 p.Thr23Met Likely benign Multiple submitters
Weill-Marchesani syndrome 1
ADAMTS10 p.Thr642Met Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Thr68Met Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Val102Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Val322Met Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Val463Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Val47Met Uncertain significance Multiple submitters
Inborn genetic diseases
ADAMTS10 p.Ala117Val Conflicting Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Ala253Thr Uncertain significance Single submitter
ADAMTS10 p.Ala422Ser Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Ala52Val Uncertain significance Single submitter
ADAMTS10 p.Ala638Gly Uncertain significance Single submitter
ADAMTS10 p.Ala655Val Uncertain significance Single submitter
ADAMTS10 p.Arg1001His Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Arg1006His Uncertain significance Single submitter
ADAMTS10 p.Arg119Trp Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Arg186His Uncertain significance Single submitter
ADAMTS10 p.Arg233Gln Conflicting Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Arg239His Conflicting Single submitter
Inborn genetic diseases
ADAMTS10 p.Arg257His Uncertain significance Single submitter
ADAMTS10 p.Arg258Trp Uncertain significance Single submitter
ADAMTS10 p.Arg290His Uncertain significance Single submitter
ADAMTS10 p.Arg372His Uncertain significance Single submitter
ADAMTS10 p.Arg412Cys Uncertain significance Single submitter
ADAMTS10 p.Arg46Cys Uncertain significance Single submitter
ADAMTS10 p.Arg46Leu Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Arg480His Uncertain significance Single submitter
ADAMTS10 p.Arg507Gln Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Arg592Gln Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Arg622Cys Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Arg632Gln Uncertain significance Single submitter
ADAMTS10 p.Arg65Cys Uncertain significance Single submitter
ADAMTS10 p.Arg75Cys Uncertain significance Single submitter
ADAMTS10 p.Arg768Cys Uncertain significance Single submitter
ADAMTS10 p.Arg814His Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Arg853Cys Uncertain significance Single submitter
ADAMTS10 p.Arg853His Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Arg914Gly Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Asn1073Lys Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Asn379Ser Uncertain significance Single submitter
ADAMTS10-related disorder
ADAMTS10 p.Asn429Asp Uncertain significance Single submitter
Weill-Marchesani syndrome
ADAMTS10 p.Asn795Ser Uncertain significance Single submitter
ADAMTS10 p.Asn816Ser Uncertain significance Single submitter
ADAMTS10 p.Asp474Asn Uncertain significance Single submitter
ADAMTS10 p.Asp48Gly Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Asp683Asn Uncertain significance Single submitter
ADAMTS10 p.Asp975Tyr Uncertain significance Single submitter
ADAMTS10 p.Gln1036His Uncertain significance Single submitter
ADAMTS10 p.Gln1094His Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Gln930Lys Uncertain significance Single submitter
ADAMTS10 p.Glu155Lys Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Glu155Val Uncertain significance Single submitter
ADAMTS10 p.Glu173Lys Uncertain significance Single submitter
Weill-Marchesani syndrome
ADAMTS10 p.Glu261Lys Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Glu333Asp Uncertain significance Single submitter
ADAMTS10 p.Glu517Asp Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Glu589Lys Uncertain significance Single submitter
ADAMTS10 p.Glu676Lys Uncertain significance Single submitter
ADAMTS10 p.Glu706Lys Uncertain significance Single submitter
ADAMTS10 p.Glu722Lys Uncertain significance Single submitter
ADAMTS10 p.Glu789Asp Uncertain significance Single submitter
ADAMTS10 p.Glu919Ala Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Gly493Arg Uncertain significance Single submitter
ADAMTS10 p.Gly720Trp Uncertain significance Single submitter
ADAMTS10 p.Gly903Ser Uncertain significance Single submitter
ADAMTS10 p.His1033Tyr Uncertain significance Single submitter
ADAMTS10 p.His146Tyr Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.His483Gln Uncertain significance Single submitter
ADAMTS10 p.His679Gln Uncertain significance Single submitter
ADAMTS10 p.Leu12Ile Uncertain significance Single submitter
ADAMTS10 p.Leu12Phe Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Leu449Pro Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Leu980Val Uncertain significance Single submitter
ADAMTS10 p.Met268Leu Uncertain significance Single submitter
ADAMTS10 p.Met426Ile Uncertain significance Single submitter
ADAMTS10 p.Phe431Leu Uncertain significance Single submitter
ADAMTS10 p.Phe625Leu Uncertain significance Single submitter
ADAMTS10 p.Phe735Leu Uncertain significance Single submitter
ADAMTS10 p.Pro552Arg Uncertain significance Single submitter
Weill-Marchesani syndrome
ADAMTS10 p.Pro552Leu Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Pro602Ser Uncertain significance Single submitter
ADAMTS10 p.Pro663Thr Uncertain significance Single submitter
Weill-Marchesani syndrome
ADAMTS10 p.Pro826His Uncertain significance Single submitter
ADAMTS10 p.Pro833His Uncertain significance Single submitter
ADAMTS10 p.Pro934Thr Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Ser1038Thr Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Ser1088Arg Uncertain significance Single submitter
ADAMTS10 p.Ser744Arg Uncertain significance Single submitter
ADAMTS10 p.Ser744Cys Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Ser787Arg Uncertain significance Single submitter
Weill-Marchesani syndrome 1
ADAMTS10 p.Ser787Ile Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Ser959Gly Uncertain significance Single submitter
ADAMTS10 p.Ser95Phe Uncertain significance Single submitter
ADAMTS10 p.Thr1031Asn Uncertain significance Single submitter
ADAMTS10 p.Thr1050Met Uncertain significance Single submitter
ADAMTS10 p.Thr1061Asn Uncertain significance Single submitter
ADAMTS10 p.Thr211Ile Uncertain significance Single submitter
ADAMTS10 p.Thr295Met Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Thr397Ile Uncertain significance Single submitter
ADAMTS10 p.Thr523Met Uncertain significance Single submitter
Weill-Marchesani syndrome
ADAMTS10 p.Thr668Met Uncertain significance Single submitter
ADAMTS10 p.Thr806Ile Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Val179Met Uncertain significance Single submitter
ADAMTS10 p.Val284Leu Uncertain significance Single submitter
ADAMTS10 p.Val405Leu Uncertain significance Single submitter
ADAMTS10 p.Val405Met Uncertain significance Single submitter
ADAMTS10 p.Val537Ile Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Val732Ile Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Val800Phe Uncertain significance Single submitter
Inborn genetic diseases
ADAMTS10 p.Val80Met Uncertain significance Single submitter

All ADAMTS10 variants

Pathogenic 22

p.Arg237Ter Multiple submitters Weill-Marchesani syndrome 1
p.Arg684Ter Single submitter
p.Cys682Ter Single submitter
p.Gln1052Ter Single submitter
p.Gln765fs Single submitter
p.His524fs Single submitter
p.Ile321fs Single submitter
p.Lys871Ter Single submitter
p.Pro60fs Single submitter Weill-Marchesani syndrome 1
p.Ser640Ter Single submitter
p.Ser703fs Single submitter
p.Ser838Ter Single submitter
p.Ser906fs Single submitter
p.Ser94fs Single submitter
p.Trp207Ter Single submitter
p.Trp208fs Single submitter
p.Trp500Ter Single submitter
p.Trp953Ter Single submitter
c.1190+1G>A No assertion criteria Weill-Marchesani syndrome 1
p.Gln318Ter No assertion criteria Weill-Marchesani syndrome 1
p.Gly518Asp No assertion criteria Weill-Marchesani syndrome 1
p.Gly700Cys No assertion criteria Weill-Marchesani syndrome 1

Likely pathogenic 15

c.1337+2T>G Single submitter
c.1798-6_1812del Single submitter
c.1900+2T>G Single submitter
c.2403+1G>A Single submitter
c.2530+1G>A Single submitter
c.810+1G>A Single submitter Weill-Marchesani syndrome 1
c.894+1G>T Single submitter
p.Arg488Ser Single submitter Weill-Marchesani syndrome 1
p.Arg907His Single submitter Weill-Marchesani syndrome 1
p.Arg996Cys Single submitter Weill-Marchesani syndrome 1
p.Asn407Asp Single submitter Weill-Marchesani syndrome 1
p.Glu242fs Single submitter Weill-Marchesani syndrome 1
p.Glu393Asp Single submitter Weill-Marchesani syndrome 1
p.Tyr631Ter Single submitter Weill-Marchesani syndrome 1
p.Val1028Gly Single submitter Weill-Marchesani syndrome 1

Conflicting classifications of pathogenicity 38

c.1085-10G>A Single submitter Weill-Marchesani syndrome
c.1085-5C>T Single submitter Weill-Marchesani syndrome
c.1480-4G>T Single submitter Weill-Marchesani syndrome
c.1901-13C>A Single submitter Weill-Marchesani syndrome
c.2034+11C>T Single submitter Weill-Marchesani syndrome
c.2530+9G>A Single submitter Weill-Marchesani syndrome
c.3043-8C>T Single submitter Weill-Marchesani syndrome
c.3202+13C>T Single submitter Weill-Marchesani syndrome
c.592+8G>A Single submitter Weill-Marchesani syndrome
p.Ala117Val Single submitter Weill-Marchesani syndrome 1 ⚠
p.Ala125Thr Single submitter Weill-Marchesani syndrome 1 ⚠
p.Ala645= Single submitter Weill-Marchesani syndrome
p.Ala657= Single submitter Weill-Marchesani syndrome
p.Ala949Thr Single submitter Weill-Marchesani syndrome 1 ⚠
p.Arg233Gln Single submitter Weill-Marchesani syndrome 1 ⚠
p.Arg239His Single submitter Inborn genetic diseases ⚠
p.Arg665His Single submitter Weill-Marchesani syndrome ⚠
p.Arg93His Single submitter Inborn genetic diseases ⚠
p.Glu807Asp Single submitter Weill-Marchesani syndrome 1 ⚠
p.Gly383= Single submitter Weill-Marchesani syndrome
p.Gly395Arg Single submitter Weill-Marchesani syndrome 1 ⚠
p.Gly404= Single submitter Weill-Marchesani syndrome
p.Gly710= Single submitter Weill-Marchesani syndrome
p.His101= Single submitter Weill-Marchesani syndrome
p.His392= Single submitter Weill-Marchesani syndrome
p.His573= Single submitter Weill-Marchesani syndrome
p.Ile581= Single submitter Weill-Marchesani syndrome
p.Leu811= Single submitter Weill-Marchesani syndrome
p.Phe398= Single submitter Weill-Marchesani syndrome
p.Pro465= Single submitter Weill-Marchesani syndrome
p.Pro469= Single submitter Weill-Marchesani syndrome
p.Ser103= Single submitter Weill-Marchesani syndrome
p.Ser278= Single submitter Weill-Marchesani syndrome
p.Ser640= Single submitter Weill-Marchesani syndrome 1
p.Thr510= Single submitter Weill-Marchesani syndrome
p.Thr523= Single submitter Weill-Marchesani syndrome
p.Thr598= Single submitter Weill-Marchesani syndrome
p.Thr630= Single submitter ADAMTS10-related disorder

Benign 59

c.1337+67C>T Multiple submitters
c.1480-117C>G Multiple submitters
c.1587+107A>G Multiple submitters
c.1588-179G>T Multiple submitters Weill-Marchesani syndrome 1
c.1588-252G>A Multiple submitters
c.1588-38C>T Multiple submitters
c.1798-41C>T Multiple submitters
c.1900+11G>C Multiple submitters Weill-Marchesani syndrome
c.1901-108C>T Multiple submitters
c.1901-11G>A Multiple submitters Weill-Marchesani syndrome
c.2158+20C>T Multiple submitters
c.2159-27G>A Multiple submitters
c.2159-67G>A Multiple submitters
c.2660+170T>C Multiple submitters
c.2661-107T>C Multiple submitters
c.2865+11C>A Multiple submitters Weill-Marchesani syndrome
c.3043-12_3043-6dup Multiple submitters
c.3202+252C>T Multiple submitters
c.435+24= Multiple submitters
c.435+30A>C Multiple submitters
c.592+23G>A Multiple submitters
c.810+136G>T Multiple submitters
c.810+151A>G Multiple submitters
c.811-149G>A Multiple submitters Weill-Marchesani syndrome 1
c.*428A>G Multiple submitters Weill-Marchesani syndrome
c.*449G>C Multiple submitters Weill-Marchesani syndrome
p.Ala862Ser Multiple submitters Weill-Marchesani syndrome
p.Arg119Gln Multiple submitters Weill-Marchesani syndrome
p.Arg62Gln Multiple submitters Weill-Marchesani syndrome ⚠
p.Cys601= Multiple submitters Weill-Marchesani syndrome
p.Gly450= Multiple submitters Weill-Marchesani syndrome
p.His1101Gln Multiple submitters Weill-Marchesani syndrome 1
p.Ser134= Multiple submitters Weill-Marchesani syndrome
p.Ser134Thr Multiple submitters
p.Thr994= Multiple submitters
c.1587+10G>A Single submitter
c.1587+19C>T Single submitter
c.1588-106_1588-105insCCCATCCCCTTCCAGC Single submitter
c.1588-141_1588-140del Single submitter
c.1588-7dup Single submitter
c.1588-91CT[3] Single submitter
c.1588-95A>G Single submitter
c.1901-18C>T Single submitter
c.2661-123C>T Single submitter
c.2661-8T>G Single submitter
c.3042+17del Single submitter
c.3203-129A>G Single submitter
c.3203-5C>T Single submitter
c.436-118= Single submitter
c.592+297G>A Single submitter
c.593-218del Single submitter
c.810+208G>C Single submitter
c.810+208G>T Single submitter
c.810+273G>A Single submitter
c.811-149_811-147del Single submitter
c.*238dup Single submitter
p.Lys629= Single submitter
p.Lys749= Single submitter
p.Ser82Leu Single submitter

Benign/Likely benign 14

c.1588-11C>T Multiple submitters Weill-Marchesani syndrome
c.1588-7C>G Multiple submitters Weill-Marchesani syndrome
c.1798-6C>T Multiple submitters Weill-Marchesani syndrome
c.2403+4A>G Multiple submitters Weill-Marchesani syndrome
c.*20G>A Multiple submitters Weill-Marchesani syndrome
c.*259G>A Multiple submitters Weill-Marchesani syndrome
p.Ala117= Multiple submitters
p.Cys672= Multiple submitters Weill-Marchesani syndrome
p.Glu73Lys Multiple submitters Weill-Marchesani syndrome ⚠
p.Gly1065Ser Multiple submitters Weill-Marchesani syndrome
p.Gly718= Multiple submitters Weill-Marchesani syndrome
p.Leu808Arg Multiple submitters Weill-Marchesani syndrome
p.Thr1034= Multiple submitters Weill-Marchesani syndrome
p.Thr68= Multiple submitters Weill-Marchesani syndrome

Likely benign 499

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

c.1337+22C>T Multiple submitters
c.2240-9G>A Multiple submitters
c.436-59G>A Multiple submitters
c.810+170C>T Multiple submitters
c.811-145C>A Multiple submitters
c.-198A>G Multiple submitters Weill-Marchesani syndrome
c.*171G>A Multiple submitters Weill-Marchesani syndrome
p.Arg456Gln Multiple submitters Weill-Marchesani syndrome
p.Asn50= Multiple submitters
p.Cys1041= Multiple submitters
p.His255= Multiple submitters
p.Pro946= Multiple submitters
p.Ser447Leu Multiple submitters ⚠
p.Ser57= Multiple submitters
p.Ser754Phe Multiple submitters Weill-Marchesani syndrome
p.Thr23Met Multiple submitters Weill-Marchesani syndrome 1 ⚠
c.1040+10C>G Single submitter
c.1041-17C>T Single submitter
c.1041-18C>T Single submitter
c.1041-19A>G Single submitter
c.1041-20G>A Single submitter
c.1084+13C>T Single submitter
c.1084+14G>A Single submitter
c.1084+7G>A Single submitter
c.1085-11C>T Single submitter
c.1085-12C>T Single submitter
c.1085-14G>A Single submitter
c.1085-15T>C Single submitter
c.1085-20C>G Single submitter
c.1085-4C>T Single submitter
c.1190+12del Single submitter
c.1190+15C>T Single submitter
c.1190+18_1190+19del Single submitter
c.1190+8C>T Single submitter
c.1191-13C>A Single submitter
c.1191-13C>T Single submitter
c.1191-17G>A Single submitter
c.1191-18C>T Single submitter
c.1337+10C>T Single submitter
c.1337+17G>A Single submitter
c.1337+20T>C Single submitter
c.1337+47G>A Single submitter
c.1338-18G>A Single submitter
c.1479+11T>C Single submitter
c.1479+15C>T Single submitter
c.1479+19C>A Single submitter
c.1480-10C>T Single submitter
c.1480-13C>T Single submitter
c.1480-15C>A Single submitter
c.1480-18G>C Single submitter
c.1480-3dup Single submitter
c.1480-4G>A Single submitter
c.1480-8G>A Single submitter
c.1480-8G>T Single submitter
c.1587+11G>A Single submitter
c.1587+11G>T Single submitter
c.1587+12C>G Single submitter
c.1587+13C>T Single submitter
c.1587+14_1587+20del Single submitter
c.1587+15G>A Single submitter
c.1587+16G>A Single submitter
c.1587+17G>T Single submitter
c.1587+19C>G Single submitter
c.1587+20C>A Single submitter
c.1587+7G>A Single submitter
c.1587+8C>G Single submitter
c.1588-10C>A Single submitter
c.1588-12C>T Single submitter
c.1588-13T>G Single submitter
c.1588-17T>C Single submitter
c.1588-5C>A Single submitter
c.1588-5C>T Single submitter
c.1588-7C>A Single submitter
c.1588-7C>T Single submitter
c.1588-7del Single submitter
c.1588-8C>G Single submitter
c.1733+12G>A Single submitter
c.1733+13G>T Single submitter
c.1733+15C>T Single submitter
c.1733+7C>T Single submitter
c.1733+9T>C Single submitter
c.1734-19A>G Single submitter
c.1734-5T>C Single submitter
c.1734-8C>T Single submitter
c.1734-9C>G Single submitter
c.1797+110A>G Single submitter
c.1797+16C>A Single submitter
c.1797+16C>T Single submitter
c.1797+19C>T Single submitter
c.1797+28del Single submitter
c.1798-13C>T Single submitter
c.1798-15C>G Single submitter
c.1798-16C>A Single submitter
c.1798-17T>C Single submitter
c.1798-23_1798-18del Single submitter
c.1798-4C>A Single submitter
c.1798-5C>T Single submitter
c.1900+16C>G Single submitter
c.1900+16C>T Single submitter
c.1900+18A>G Single submitter
c.1900+19A>G Single submitter
c.1901-11G>T Single submitter
c.1901-12C>T Single submitter
c.1901-147G>A Single submitter
c.1901-14G>C Single submitter
c.1901-17G>A Single submitter
c.1901-18C>G Single submitter
c.1901-8C>T Single submitter
c.2034+18G>A Single submitter
c.2034+7G>A Single submitter
c.2035-15G>A Single submitter
c.2035-16C>T Single submitter
c.2035-17A>G Single submitter
c.2035-20C>T Single submitter
c.2035-4G>A Single submitter
c.2035-4G>T Single submitter
c.2035-5C>T Single submitter
c.2159-20A>G Single submitter
c.2159-267GAAA[6] Single submitter
c.2159-279dup Single submitter
c.2239+12G>C Single submitter
c.2239+13T>G Single submitter
c.2240-10C>G Single submitter
c.2240-10C>T Single submitter
c.2240-12A>G Single submitter
c.2240-14G>A Single submitter
c.2240-18C>T Single submitter
c.2240-7C>A Single submitter
c.2403+19G>A Single submitter
c.2403+8G>A Single submitter
c.2404-13C>T Single submitter
c.2404-15G>A Single submitter
c.2404-8T>G Single submitter
c.2530+10G>C Single submitter
c.2530+11G>C Single submitter
c.2530+12G>A Single submitter
c.2530+13G>T Single submitter
c.2530+15G>C Single submitter
c.2530+15G>T Single submitter
c.2530+19G>C Single submitter
c.2530+7C>G Single submitter
c.2530+8_2530+14del Single submitter
c.2530+8C>T Single submitter
c.2531-13C>T Single submitter
c.2531-14del Single submitter
c.2531-19C>A Single submitter
c.2531-20C>T Single submitter
c.2531-4C>T Single submitter
c.2531-9C>T Single submitter
c.2660+14G>T Single submitter
c.2661-15C>T Single submitter
c.2661-68G>A Single submitter
c.2865+12C>T Single submitter
c.2865+18T>C Single submitter
c.2865+20C>A Single submitter
c.2865+20C>G Single submitter
c.2865+20C>T Single submitter
c.2865+8G>A Single submitter
c.2865+9C>T Single submitter
c.2866-13C>T Single submitter
c.2866-16C>A Single submitter
c.2866-71A>T Single submitter
c.3042+14C>T Single submitter
c.3042+15C>T Single submitter
c.3042+16C>A Single submitter
c.3042+17C>G Single submitter
c.3042+8G>A Single submitter
c.3043-10C>A Single submitter
c.3043-12_3043-7dup Single submitter
c.3043-20T>A Single submitter
c.3043-20T>G Single submitter
c.3043-5_3043-4insCCCCCTT Single submitter
c.3043-5C>G Single submitter
c.3043-5C>T Single submitter
c.3202+9del Single submitter
c.3203-10G>C Single submitter
c.3203-11C>T Single submitter
c.3203-12C>G Single submitter
c.3203-13C>T Single submitter
c.3203-15C>G Single submitter
c.3203-15C>T Single submitter
c.3203-18_3203-15del Single submitter
c.3203-19C>G Single submitter
c.3203-4G>A Single submitter
c.3203-4G>T Single submitter
c.3203-6_3203-5del Single submitter
c.3203-6C>A Single submitter
c.3203-7C>T Single submitter
c.3203-8C>G Single submitter
c.435+10G>A Single submitter
c.435+20A>C Single submitter
c.435+8G>A Single submitter
c.436-118del Single submitter
c.436-12del Single submitter
c.436-130_436-129dup Single submitter
c.436-16A>C Single submitter
c.436-18C>A Single submitter
c.436-5C>T Single submitter
c.592+122G>A Single submitter
c.592+14T>A Single submitter
c.592+18G>A Single submitter
c.592+258G>A Single submitter
c.592+8G>C Single submitter
c.592+9G>T Single submitter
c.593-234dup Single submitter
c.810+15C>G Single submitter
c.810+15C>T Single submitter
c.810+179A>G Single submitter
c.810+17C>T Single submitter
c.810+188A>G Single submitter
c.810+19C>G Single submitter
c.810+20T>C Single submitter
c.810+229G>A Single submitter
c.810+240A>G Single submitter
c.810+7G>C Single submitter
c.810+9C>T Single submitter
c.811-10T>G Single submitter
c.811-12_811-11del Single submitter
c.811-18_811-17del Single submitter
c.811-18T>C Single submitter
c.811-5G>T Single submitter
c.88+20G>A Single submitter
c.89-12C>A Single submitter
c.89-15G>A Single submitter
c.89-17C>T Single submitter
c.89-9C>A Single submitter
c.894+15C>T Single submitter
c.894+16T>C Single submitter
c.894+17C>G Single submitter
c.894+18C>G Single submitter
c.894+8G>A Single submitter
c.895-11T>C Single submitter
c.895-12G>C Single submitter
c.895-13T>C Single submitter
c.895-16C>T Single submitter
c.895-4C>T Single submitter
c.895-8del Single submitter
c.895-9C>G Single submitter
p.Ala1017= Single submitter
p.Ala1055= Single submitter
p.Ala1090= Single submitter
p.Ala2= Single submitter
p.Ala266= Single submitter
p.Ala307= Single submitter
p.Ala387= Single submitter
p.Ala4= Single submitter
p.Ala411= Single submitter
p.Ala516= Single submitter
p.Ala52= Single submitter
p.Ala549= Single submitter
p.Ala655= Single submitter
p.Ala72= Single submitter
p.Ala772= Single submitter
p.Ala790= Single submitter
p.Ala796= Single submitter
p.Ala922= Single submitter
p.Ala949= Single submitter
p.Ala974= Single submitter
p.Ala978= Single submitter
p.Ala988= Single submitter
p.Arg1001= Single submitter
p.Arg1046= Single submitter
p.Arg109= Single submitter
p.Arg257= Single submitter
p.Arg27= Single submitter
p.Arg290= Single submitter
p.Arg372= Single submitter
p.Arg438= Single submitter
p.Arg459= Single submitter
p.Arg46= Single submitter
p.Arg480= Single submitter
p.Arg542= Single submitter
p.Arg592= Single submitter
p.Arg622= Single submitter
p.Arg632= Single submitter
p.Arg66= Single submitter
p.Arg696= Single submitter
p.Arg805= Single submitter
p.Arg877= Single submitter
p.Arg914= Single submitter
p.Arg965= Single submitter
p.Asn323= Single submitter
p.Asn334= Single submitter
p.Asn379= Single submitter
p.Asn511= Single submitter
p.Asn892= Single submitter
p.Asp152= Single submitter
p.Asp403= Single submitter
p.Asp476= Single submitter
p.Asp660= Single submitter
p.Asp701= Single submitter
p.Asp975= Single submitter
p.Cys1002= Single submitter
p.Cys1015= Single submitter
p.Cys1030= Single submitter
p.Cys1078= Single submitter
p.Cys1100= Single submitter
p.Cys358= Single submitter
p.Cys639= Single submitter
p.Cys682= Single submitter

Uncertain significance 387

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

c.1337+3G>T Multiple submitters
c.1587+6C>A Multiple submitters
c.894+5G>A Multiple submitters Inborn genetic diseases
c.-99-3C>T Multiple submitters Weill-Marchesani syndrome
p.Ala13Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala247Ser Multiple submitters ⚠
p.Ala422Val Multiple submitters Inborn genetic diseases ⚠
p.Ala4Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg1093Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg169Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg186Leu Multiple submitters Weill-Marchesani syndrome ⚠
p.Arg205Trp Multiple submitters Weill-Marchesani syndrome ⚠
p.Arg210Gln Multiple submitters Weill-Marchesani syndrome 1 ⚠
p.Arg210Trp Multiple submitters Weill-Marchesani syndrome ⚠
p.Arg226Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg226His Multiple submitters Inborn genetic diseases ⚠
p.Arg258Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg412His Multiple submitters Inborn genetic diseases ⚠
p.Arg438His Multiple submitters Inborn genetic diseases ⚠
p.Arg46His Multiple submitters Inborn genetic diseases ⚠
p.Arg488His Multiple submitters Inborn genetic diseases ⚠
p.Arg62Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg62Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg632Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg65His Multiple submitters Inborn genetic diseases ⚠
p.Arg665Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg66Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg684Gln Multiple submitters ⚠
p.Arg691Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg696Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg75His Multiple submitters Inborn genetic diseases ⚠
p.Arg821His Multiple submitters Inborn genetic diseases ⚠
p.Arg93Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg96Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg9Cys Multiple submitters Inborn genetic diseases ⚠
p.Asn454Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp198Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp30Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp689Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp887Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp925Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys5Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln489Leu Multiple submitters Inborn genetic diseases ⚠
p.Glu153Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu173Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu21Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu393Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu709Lys Multiple submitters Weill-Marchesani syndrome ⚠
p.Glu73Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu937Gly Multiple submitters Inborn genetic diseases ⚠
p.Gly163Ser Multiple submitters Weill-Marchesani syndrome ⚠
p.Gly308Arg Multiple submitters ⚠
p.Gly326Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly359Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly588Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly67Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly702Ser Multiple submitters Inborn genetic diseases ⚠
p.His24Tyr Multiple submitters ⚠
p.His49Arg Multiple submitters Weill-Marchesani syndrome ⚠
p.His864Asp Multiple submitters Inborn genetic diseases ⚠
p.Ile382Val Multiple submitters Inborn genetic diseases ⚠
p.Leu112Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu112Met Multiple submitters Inborn genetic diseases ⚠
p.Leu587Val Multiple submitters Inborn genetic diseases ⚠
p.Leu970Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys486Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys533Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys627Thr Multiple submitters Weill-Marchesani syndrome ⚠
p.Met369Ile Multiple submitters Inborn genetic diseases ⚠
p.Pro1004Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro215Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro58Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro59Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro825Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser1088Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser278Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser34Cys Multiple submitters Inborn genetic diseases ⚠
p.Thr642Met Multiple submitters Inborn genetic diseases ⚠
p.Thr68Met Multiple submitters Inborn genetic diseases ⚠
p.Thr763Ser Multiple submitters Inborn genetic diseases ⚠
p.Val102Ile Multiple submitters Inborn genetic diseases ⚠
p.Val196Glu Multiple submitters Inborn genetic diseases ⚠
p.Val322Met Multiple submitters Inborn genetic diseases ⚠
p.Val463Ala Multiple submitters Inborn genetic diseases ⚠
p.Val47Met Multiple submitters Inborn genetic diseases ⚠
p.Val535Ile Multiple submitters Inborn genetic diseases ⚠
p.Val669Leu Multiple submitters Weill-Marchesani syndrome ⚠
p.Val711Ile Multiple submitters Inborn genetic diseases ⚠
p.Val910Leu Multiple submitters Inborn genetic diseases ⚠
c.1084+18G>C Single submitter
c.1084+6C>T Single submitter Weill-Marchesani syndrome 1
c.1338-10C>G Single submitter
c.1587+6C>T Single submitter
c.1797+11C>A Single submitter Weill-Marchesani syndrome
c.1901-5C>G Single submitter
c.2034+6G>A Single submitter
c.2158+6_2158+7del Single submitter
c.2239+5G>A Single submitter
c.2403+6A>G Single submitter
c.2404-9T>C Single submitter Weill-Marchesani syndrome
c.2531-3C>T Single submitter
c.592+5A>G Single submitter
c.894+4C>T Single submitter
c.-143G>C Single submitter Weill-Marchesani syndrome
c.-153G>A Single submitter Weill-Marchesani syndrome
c.-233G>T Single submitter Weill-Marchesani syndrome
c.-60G>A Single submitter Weill-Marchesani syndrome
c.-99-7C>G Single submitter Weill-Marchesani syndrome
c.*146G>A Single submitter Weill-Marchesani syndrome
c.*157G>A Single submitter Weill-Marchesani syndrome
c.*209C>T Single submitter Weill-Marchesani syndrome
c.*311A>G Single submitter Weill-Marchesani syndrome
c.*322C>T Single submitter Weill-Marchesani syndrome
c.*330A>T Single submitter Weill-Marchesani syndrome
c.*356G>A Single submitter Weill-Marchesani syndrome
c.*36T>C Single submitter Weill-Marchesani syndrome
c.*411C>T Single submitter Weill-Marchesani syndrome
c.*447G>T Single submitter Weill-Marchesani syndrome
c.*456del Single submitter
c.*47A>G Single submitter Weill-Marchesani syndrome
c.*563C>A Single submitter Weill-Marchesani syndrome
c.*578C>A Single submitter Weill-Marchesani syndrome
c.*630C>T Single submitter Weill-Marchesani syndrome
c.*81G>C Single submitter Weill-Marchesani syndrome
c.*81G>T Single submitter Weill-Marchesani syndrome
c.*85dup Single submitter
p.Ala1090Thr Single submitter Weill-Marchesani syndrome ⚠
p.Ala118Pro Single submitter Inborn genetic diseases ⚠
p.Ala118Thr Single submitter Inborn genetic diseases ⚠
p.Ala13Val Single submitter ⚠
p.Ala217Val Single submitter ⚠
p.Ala253Thr Single submitter ⚠
p.Ala25Thr Single submitter Weill-Marchesani syndrome 1 ⚠
p.Ala411Asn Single submitter
p.Ala411Ser Single submitter ⚠
p.Ala411Val Single submitter ⚠
p.Ala422Ser Single submitter Weill-Marchesani syndrome 1 ⚠
p.Ala42Thr Single submitter Inborn genetic diseases ⚠
p.Ala52Val Single submitter ⚠
p.Ala638Gly Single submitter ⚠
p.Ala655Val Single submitter ⚠
p.Ala70Ser Single submitter ⚠
p.Ala719= Single submitter
p.Ala810Pro Single submitter ⚠
p.Ala817Val Single submitter ⚠
p.Ala820Thr Single submitter ⚠
p.Ala842Glu Single submitter ⚠
p.Ala878Thr Single submitter Weill-Marchesani syndrome 1 ⚠
p.Ala978Ser Single submitter ⚠
p.Ala983Glu Single submitter ⚠
p.Arg1001His Single submitter Weill-Marchesani syndrome 1 ⚠
p.Arg1006His Single submitter ⚠
p.Arg1029Leu Single submitter Inborn genetic diseases ⚠
p.Arg1029Ser Single submitter ⚠
p.Arg109Gln Single submitter ⚠
p.Arg119Trp Single submitter Inborn genetic diseases ⚠
p.Arg186His Single submitter ⚠
p.Arg205Gln Single submitter ⚠
p.Arg239Cys Single submitter Inborn genetic diseases ⚠
p.Arg257His Single submitter ⚠
p.Arg258Trp Single submitter ⚠
p.Arg27Gln Single submitter ⚠
p.Arg27Pro Single submitter ⚠
p.Arg290Cys Single submitter ⚠
p.Arg290His Single submitter ⚠
p.Arg372Cys Single submitter ⚠
p.Arg372His Single submitter ⚠
p.Arg412Cys Single submitter ⚠
p.Arg438Cys Single submitter Inborn genetic diseases ⚠
p.Arg46Cys Single submitter ⚠
p.Arg46Leu Single submitter Inborn genetic diseases ⚠
p.Arg480His Single submitter ⚠
p.Arg507Gln Single submitter Weill-Marchesani syndrome 1 ⚠
p.Arg507Trp Single submitter ⚠
p.Arg592Gln Single submitter Inborn genetic diseases ⚠
p.Arg622Cys Single submitter Weill-Marchesani syndrome 1 ⚠
p.Arg632Gln Single submitter ⚠
p.Arg65Cys Single submitter ⚠
p.Arg691Gln Single submitter Inborn genetic diseases ⚠
p.Arg691Pro Single submitter Weill-Marchesani syndrome 1 ⚠
p.Arg75Cys Single submitter ⚠
p.Arg768Cys Single submitter ⚠
p.Arg768His Single submitter ⚠
p.Arg779Gln Single submitter Inborn genetic diseases ⚠
p.Arg814Gln Single submitter
p.Arg814His Single submitter Inborn genetic diseases ⚠
p.Arg853Cys Single submitter ⚠
p.Arg853His Single submitter Inborn genetic diseases ⚠
p.Arg914Gly Single submitter Inborn genetic diseases ⚠
p.Arg9Pro Single submitter ⚠
p.Asn1073Lys Single submitter Weill-Marchesani syndrome 1 ⚠
p.Asn379Ser Single submitter ADAMTS10-related disorder ⚠
p.Asn401Ser Single submitter Inborn genetic diseases ⚠
p.Asn429Asp Single submitter Weill-Marchesani syndrome ⚠
p.Asn50His Single submitter ⚠
p.Asn597Ser Single submitter Inborn genetic diseases ⚠
p.Asn795Ser Single submitter ⚠
p.Asn816Ser Single submitter ⚠
p.Asp1058His Single submitter ⚠
p.Asp191His Single submitter ⚠
p.Asp312Asn Single submitter ⚠
p.Asp349Asn Single submitter ⚠
p.Asp474Asn Single submitter ⚠
p.Asp48Gly Single submitter Inborn genetic diseases ⚠
p.Asp683Asn Single submitter ⚠
p.Asp723Glu Single submitter ⚠
p.Asp975Tyr Single submitter ⚠
p.Cys1053= Single submitter Weill-Marchesani syndrome
p.Cys1057Ser Single submitter Inborn genetic diseases ⚠
p.Cys508Tyr Single submitter ⚠
p.Cys601Phe Single submitter ⚠
p.Cys695Trp Single submitter Weill-Marchesani syndrome 1 ⚠
p.Cys879Ser Single submitter ⚠
p.Cys956Gly Single submitter ⚠
p.Gln1036His Single submitter ⚠
p.Gln1094His Single submitter Inborn genetic diseases ⚠
p.Gln115Glu Single submitter ⚠
p.Gln318His Single submitter Inborn genetic diseases ⚠
p.Gln855Glu Single submitter Inborn genetic diseases ⚠
p.Gln855Lys Single submitter Inborn genetic diseases ⚠
p.Gln930Lys Single submitter ⚠
p.Glu1054Gln Single submitter ⚠
p.Glu155Lys Single submitter Inborn genetic diseases ⚠
p.Glu155Val Single submitter ⚠
p.Glu173Lys Single submitter Weill-Marchesani syndrome ⚠
p.Glu223Lys Single submitter Inborn genetic diseases ⚠
p.Glu261Lys Single submitter Inborn genetic diseases ⚠
p.Glu31Asp Single submitter Inborn genetic diseases ⚠
p.Glu333Asp Single submitter ⚠
p.Glu517Asp Single submitter Inborn genetic diseases ⚠
p.Glu589Lys Single submitter ⚠
p.Glu653Gly Single submitter ⚠
p.Glu653Lys Single submitter ⚠
p.Glu676Lys Single submitter ⚠
p.Glu692Lys Single submitter Weill-Marchesani syndrome 1 ⚠
p.Glu706Lys Single submitter ⚠
p.Glu722Lys Single submitter ⚠
p.Glu758Asp Single submitter ⚠
p.Glu789Asp Single submitter ⚠
p.Glu807Lys Single submitter ⚠
p.Glu919Ala Single submitter Inborn genetic diseases ⚠
p.Gly1063Val Single submitter Inborn genetic diseases ⚠
p.Gly164Glu Single submitter ⚠
p.Gly167Ala Single submitter Inborn genetic diseases ⚠
p.Gly227Ala Single submitter Inborn genetic diseases ⚠
p.Gly328Asp Single submitter ⚠
p.Gly328Ser Single submitter Inborn genetic diseases ⚠
p.Gly413Asp Single submitter ⚠
p.Gly493Arg Single submitter ⚠
p.Gly529Arg Single submitter ⚠
p.Gly529Glu Single submitter ⚠
p.Gly588Ala Single submitter Inborn genetic diseases ⚠
p.Gly635Val Single submitter ⚠
p.Gly661Arg Single submitter ⚠
p.Gly681Ser Single submitter ⚠
p.Gly687Val Single submitter ⚠
p.Gly700Ser Single submitter ⚠
p.Gly702Arg Single submitter ⚠
p.Gly720Trp Single submitter ⚠
p.Gly762Arg Single submitter
p.Gly903Ser Single submitter ⚠
p.Gly903Val Single submitter Weill-Marchesani syndrome 1 ⚠
p.Gly963Asp Single submitter Weill-Marchesani syndrome 1 ⚠
p.His1033Tyr Single submitter ⚠
p.His1039Pro Single submitter ⚠
p.His146Tyr Single submitter Inborn genetic diseases ⚠
p.His162Arg Single submitter ⚠
p.His187Arg Single submitter ⚠
p.His189Asp Single submitter ⚠
p.His396Asn Single submitter Inborn genetic diseases ⚠
p.His483Gln Single submitter ⚠
p.His49Asn Single submitter ⚠
p.His679Gln Single submitter ⚠
p.His869Gln Single submitter Inborn genetic diseases ⚠
p.His86Arg Single submitter ⚠
p.Ile350Val Single submitter ⚠
p.Ile394Thr Single submitter ⚠
p.Ile708Val Single submitter Inborn genetic diseases ⚠
p.Leu1082Val Single submitter ⚠
p.Leu112Pro Single submitter Weill-Marchesani syndrome ⚠
p.Leu12Ile Single submitter ⚠
p.Leu12Phe Single submitter Inborn genetic diseases ⚠
p.Leu212Ser Single submitter ⚠
p.Leu449Pro Single submitter Inborn genetic diseases ⚠
p.Leu451Val Single submitter ⚠
p.Leu641Pro Single submitter ⚠
p.Leu741Phe Single submitter ⚠
p.Leu748Pro Single submitter ⚠
p.Leu756Val Single submitter ⚠
p.Leu791Pro Single submitter Inborn genetic diseases ⚠
p.Leu8= Single submitter Weill-Marchesani syndrome
p.Leu872Trp Single submitter
p.Leu98= Single submitter Weill-Marchesani syndrome
p.Leu980Val Single submitter ⚠
p.Lys1074Arg Single submitter ⚠
p.Met1095fs Single submitter
p.Met19Ile Single submitter ⚠
p.Met268Leu Single submitter ⚠
p.Met426Ile Single submitter ⚠
p.Met995Leu Single submitter ⚠