DSE — 473 ClinVar variants

All ClinVar germline DSE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 240 flagged for review →

7 Pathogenic · 8 Likely pathogenic · 14 Conflicting · 16 Benign · 10 Benign/Likely benign · 169 Likely benign · 249 Uncertain significance

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

⚑ Evidence disagreements 240

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.

DSE p.Ala461Thr Conflicting Single submitter
Inborn genetic diseases
DSE p.Arg654Gln Conflicting Single submitter
Inborn genetic diseases
DSE p.Arg723Gln Conflicting Single submitter
Inborn genetic diseases
DSE p.Ile120Thr Conflicting Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ile669Val Conflicting Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ser729Asn Conflicting Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2

Predictors lean, ClinVar uncertain 156

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 156

DSE p.Ala135Val Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Ala408Thr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ala688Val Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ala695Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Ala910Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Arg2Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Arg6Gln Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg6Trp Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg716His Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg763Gln Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg765Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Arg810Gln Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg879Gly Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asn37Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asn445Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asn832Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Asp26Glu Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Asp41Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Asp782Tyr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Gly376Asp Uncertain significance Multiple submitters
DSE p.Gly612Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.His692Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.His870Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Ile607Phe Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Ile741Val Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ile796Val Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Leu896Arg Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Lys691Arg Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Lys834Glu Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Met32Thr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Met918Val Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Pro34Arg Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Pro579Leu Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Pro579Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Pro733Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Ser769Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Thr888Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Thr921Ala Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Tyr23Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Val276Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Val400Met Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Val542Leu Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ala182Ser Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ala405Val Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ala489Thr Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ala544Asp Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ala739Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ala768Pro Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ala821Thr Uncertain significance Single submitter
DSE p.Ala840Thr Uncertain significance Single submitter
Ehlers-Danlos syndrome
DSE p.Ala883Ser Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ala883Thr Uncertain significance Single submitter
DSE p.Ala898Gly Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg248Lys Uncertain significance Single submitter
DSE p.Arg538Gln Uncertain significance Single submitter
DSE p.Arg556Ser Uncertain significance Single submitter
DSE p.Arg59Lys Uncertain significance Single submitter
DSE p.Arg716Gly Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg716Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg837Lys Uncertain significance Single submitter
DSE p.Arg892Thr Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asn204Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asn553Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asn557Thr Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Asn809Lys Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Asp438His Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Asp454Asn Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asp611Gly Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asp820Gly Uncertain significance Single submitter
DSE p.Asp853Glu Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asp93Asn Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asp93His Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Cys113Tyr Uncertain significance Single submitter
DSE p.Cys18Tyr Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Gln548Leu Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Gln828Glu Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Glu409Lys Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Glu65Lys Uncertain significance Single submitter
DSE p.Glu788Asp Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Glu855Val Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Glu868Lys Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Gly186Val Uncertain significance Single submitter
DSE p.Gly216Val Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Gly398Cys Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Gly398Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Gly424Glu Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Gly474Ala Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Gly474Arg Uncertain significance Single submitter
DSE p.Gly500Asp Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Gly874Ser Uncertain significance Single submitter
DSE p.Gly881Arg Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.His562Gln Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.His573Tyr Uncertain significance Single submitter
Inborn genetic diseases
DSE p.His748Tyr Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ile14Lys Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ile410Val Uncertain significance Single submitter
DSE p.Ile607Met Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ile665Val Uncertain significance Single submitter
DSE p.Ile731Thr Uncertain significance Single submitter
DSE p.Ile793Val Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ile796Thr Uncertain significance Single submitter
DSE p.Ile836Met Uncertain significance Single submitter
DSE p.Ile836Phe Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ile850Thr Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ile850Val Uncertain significance Single submitter
DSE p.Ile941Val Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Leu140Phe Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Leu415Val Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Leu517Val Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Leu561Pro Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Leu613Ile Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Leu848Pro Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Leu848Val Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Lys234Arg Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Lys783Glu Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Lys839Glu Uncertain significance Single submitter
DSE p.Lys857Glu Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Met111Val Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Met211Val Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Met240Val Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Met273Val Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Met297Ile Uncertain significance Single submitter
DSE p.Met32Lys Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Met334Val Uncertain significance Single submitter
DSE p.Phe12Ile Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Phe19Leu Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Phe294Cys Uncertain significance Single submitter
DSE p.Phe305Leu Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Phe479Val Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Pro453Leu Uncertain significance Single submitter
DSE p.Pro733Leu Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Pro751Arg Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Pro849His Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ser413Pro Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ser508Thr Uncertain significance Single submitter
DSE p.Ser520Thr Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ser81Arg Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ser952Thr Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ser954Phe Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Thr3Asn Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Thr622Ala Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Thr634Ile Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Thr786Ser Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Trp232Arg Uncertain significance Single submitter
DSE p.Trp397Cys Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Tyr639Phe Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Tyr697Cys Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Tyr867His Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Tyr900Cys Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Tyr922Cys Uncertain significance Single submitter

Predictors split 78

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

DSE p.Ala122Thr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ala54Val Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ala584Val Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Ala710Val Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Arg637Trp Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg70Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg776Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg815Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Arg837Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asn463Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Gln57His Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Gly638Asp Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Ile537Phe Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Leu165Phe Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Lys509Glu Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Phe12Tyr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Pro34Leu Benign/Likely benign Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Pro358Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Pro563Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Ser707Cys Likely benign Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ser95Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Thr390Ile Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Thr72Met Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Thr77Met Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Trp948Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Tyr614Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome
DSE p.Tyr738Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Val20Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DSE p.Val381Ala Benign/Likely benign Multiple submitters
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ala126Thr Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ala528Thr Uncertain significance Single submitter
DSE p.Ala60Gly Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ala61Asp Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Ala688Gly Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Arg194Gly Uncertain significance Single submitter
DSE p.Arg335Cys Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Arg335His Conflicting Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg425Cys Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg538Gly Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg716Cys Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg879Trp Conflicting Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Arg884Trp Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asn119His Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asn745Tyr Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Asp396Glu Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Asp570Glu Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Asp861Gly Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Asp942Gly Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Glu353Gln Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Gly543Arg Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Gly601Ser Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Gly678Arg Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Leu109Val Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Leu580Phe Uncertain significance Single submitter
DSE p.Leu778Val Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Lys176Asn Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Lys512Asn Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Phe479Leu Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Phe770Leu Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Phe770Val Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Phe904Leu Uncertain significance Single submitter
DSE p.Pro288Leu Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Pro382Ser Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ser10Asn Uncertain significance Single submitter
DSE p.Ser380Leu Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Ser797Pro Uncertain significance Single submitter
DSE p.Thr233Asn Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Thr266Ala Uncertain significance Single submitter
DSE p.Thr582Ile Uncertain significance Single submitter
DSE p.Val327Ala Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Val351Met Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Val534Met Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Val569Ala Uncertain significance Single submitter
Inborn genetic diseases
DSE p.Val569Leu Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Val633Met Conflicting Single submitter
Inborn genetic diseases
DSE p.Val685Ala Uncertain significance Single submitter
Ehlers-Danlos syndrome, musculocontractural type 2
DSE p.Val752Met Uncertain significance Single submitter
DSE p.Val764Asp Uncertain significance Single submitter
Inborn genetic diseases

All DSE variants

Pathogenic 7

p.Ala161fs Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Asp128_Tyr129insTer Single submitter Inborn genetic diseases
p.Gln136Ter Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gln271fs Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gln292Ter Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Arg267Gly No assertion criteria Ehlers-Danlos syndrome, musculocontractural type 2
p.Ser268Leu No assertion criteria Ehlers-Danlos syndrome, musculocontractural type 2

Likely pathogenic 8

c.416+1G>A Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala8fs Single submitter
p.Arg538Ter Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Arg810Ter Single submitter
p.Lys846fs Single submitter
p.Trp699Ter Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Tyr646fs Single submitter Fetal anomalies with a likely genetic cause
p.Tyr697Ter Single submitter

Conflicting classifications of pathogenicity 14

c.-53-4G>A Single submitter
p.Ala461Thr Single submitter Inborn genetic diseases ⚠
p.Arg335His Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg654Gln Single submitter Inborn genetic diseases ⚠
p.Arg723Gln Single submitter Inborn genetic diseases ⚠
p.Arg879Trp Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ile120Thr Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ile669Val Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Lys728= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro150= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ser63= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ser729Asn Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Tyr867= Single submitter Ehlers-Danlos syndrome
p.Val633Met Single submitter Inborn genetic diseases ⚠

Benign 16

c.1118+15G>A Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala38= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Asn642= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
c.1119-83G>A Single submitter
c.670+328del Single submitter
c.671-165dup Single submitter
c.911-229G>A Single submitter
c.911-50G>T Single submitter
c.-192G>C Single submitter
c.-46C>T Single submitter
c.-53-232T>A Single submitter
c.-54+109A>G Single submitter
c.-54+134A>G Single submitter
c.-54+184A>T Single submitter
c.*149C>T Single submitter
c.*287A>G Single submitter

Benign/Likely benign 10

p.Arg70His Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Cys18Phe Multiple submitters Ehlers-Danlos syndrome
p.Gly874del Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Ile282Val Multiple submitters Ehlers-Danlos syndrome
p.Leu237= Multiple submitters Ehlers-Danlos syndrome
p.Leu778= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro34Leu Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Thr25Ile Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr72= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Val381Ala Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠

Likely benign 169

c.1118+43G>A Multiple submitters
c.416+13C>T Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
c.670+12C>T Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
c.670+20A>G Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
c.671-211A>G Multiple submitters
c.910+20G>A Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
c.911-15A>G Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
c.911-231A>C Multiple submitters
c.-53-89A>G Multiple submitters
p.Ala161= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala260= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala295= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala312= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala426= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala461= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Arg335= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Arg810Gly Multiple submitters Ehlers-Danlos syndrome
p.Arg884Gln Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Asn37Ile Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Asp26= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Asp620= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Gln227= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Gln672= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Glu504= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Ile909= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu391= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu46= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu551= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Phe479= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Phe48= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro407= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro497= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Ser380= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Ser625= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Ser707Cys Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ser80= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr172= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr215= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr238= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr25= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr251= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr887= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Tyr40= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Tyr428= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Tyr473= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Tyr545= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
p.Tyr922= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2
c.1119-20T>C Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
c.1119-285C>G Single submitter
c.416+11G>A Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
c.416+11G>T Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
c.416+296A>G Single submitter
c.417-15T>G Single submitter
c.417-50A>G Single submitter
c.670+14C>T Single submitter
c.670+18C>T Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
c.671-14T>C Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
c.671-286A>G Single submitter
c.910+10G>A Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
c.910+8G>A Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
c.910+9A>C Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
c.911-114C>T Single submitter
c.911-251G>A Single submitter
c.-59G>T Single submitter
c.*228T>G Single submitter
p.Ala110= Single submitter
p.Ala126= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala135= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala152= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala519= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala54= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala584= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala69= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala821= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala844= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ala926= Single submitter
p.Arg538= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Arg6= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Arg637= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Arg879= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Asn119= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Asn315= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Asn766= Single submitter
p.Asn908= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Asp791= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gln200= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gln277= Single submitter
p.Gln325= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gln609= Single submitter
p.Gln711= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gln747= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gln882= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Glu540= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gly186= Single submitter
p.Gly442= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gly449= Single submitter
p.Gly643= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gly7= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gly873= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gly874= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.His203= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.His603= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.His64= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.His677= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ile301= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ile311= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ile607= Single submitter
p.Ile67= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ile790= Single submitter
p.Leu165= Single submitter
p.Leu231= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu244= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu269= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu275= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu472= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu613= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu683= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu756= Single submitter
p.Leu761= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu79= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu848= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu860= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu946= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu949= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Lys441= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Lys476= Single submitter
p.Lys877= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Lys92= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Phe270= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Phe417= Single submitter
p.Phe536= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Phe686= Single submitter
p.Pro288= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro322= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro34= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro355= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro384= Single submitter
p.Pro579= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro640= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro656= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro667= Single submitter
p.Pro849= Single submitter
p.Pro88= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro9= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro91= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ser81= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Ter959= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr390= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr401= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr469= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr597= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr629= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr786= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Tyr23= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Tyr402= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Tyr646= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Tyr694= Single submitter
p.Tyr950= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Val11= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Val149= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Val327= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Val333= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Val399= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Val431= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Val499= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Val647= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Val732= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Val831= Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Thr77= No assertion criteria DSE-related disorder

Uncertain significance 249

p.851DE[1] Multiple submitters
p.Ala122Thr Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ala135Val Multiple submitters Inborn genetic diseases ⚠
p.Ala408Thr Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ala54Val Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ala584Val Multiple submitters Inborn genetic diseases ⚠
p.Ala688Val Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ala695Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala710Val Multiple submitters Inborn genetic diseases ⚠
p.Ala910Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg2Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg637Trp Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg6Gln Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg6Trp Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg70Cys Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg716His Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg763Gln Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg765Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg776Cys Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg810Gln Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg815Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg837Ser Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg879Gly Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Asn37Ser Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Asn445Ser Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Asn463Ser Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Asn832Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp26Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp41Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp782Tyr Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Gln57His Multiple submitters Inborn genetic diseases ⚠
p.Gly376Asp Multiple submitters ⚠
p.Gly612Ser Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Gly638Asp Multiple submitters Inborn genetic diseases ⚠
p.His692Arg Multiple submitters Inborn genetic diseases ⚠
p.His870Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ile537Phe Multiple submitters Inborn genetic diseases ⚠
p.Ile607Phe Multiple submitters Inborn genetic diseases ⚠
p.Ile741Val Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ile796Val Multiple submitters Inborn genetic diseases ⚠
p.Leu165Phe Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Leu896Arg Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Lys509Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys691Arg Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Lys834Glu Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Met32Thr Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Met918Val Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Phe12Tyr Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Pro34Arg Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Pro358Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro563Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro579Leu Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Pro579Ser Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Pro733Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser769Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser95Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr390Ile Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Thr72Met Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Thr77Met Multiple submitters Inborn genetic diseases ⚠
p.Thr888Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr921Ala Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Trp948Arg Multiple submitters Inborn genetic diseases ⚠
p.Tyr23Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr614Cys Multiple submitters Ehlers-Danlos syndrome ⚠
p.Tyr738Cys Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Val20Gly Multiple submitters Inborn genetic diseases ⚠
p.Val276Ile Multiple submitters Inborn genetic diseases ⚠
p.Val400Met Multiple submitters Inborn genetic diseases ⚠
p.Val542Leu Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
c.1118+7C>T Single submitter
c.416+4G>C Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
c.910+6G>C Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
c.-112438G>A Single submitter
c.-112459C>T Single submitter
c.-1268A>C Single submitter
c.-53-11A>G Single submitter
c.-53-6A>G Single submitter
c.*11A>G Single submitter
p.Ala126Thr Single submitter Inborn genetic diseases ⚠
p.Ala182Ser Single submitter Inborn genetic diseases ⚠
p.Ala405Val Single submitter Inborn genetic diseases ⚠
p.Ala489Thr Single submitter Inborn genetic diseases ⚠
p.Ala528Thr Single submitter ⚠
p.Ala544Asp Single submitter Inborn genetic diseases ⚠
p.Ala60Gly Single submitter Inborn genetic diseases ⚠
p.Ala61Asp Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ala688Gly Single submitter Inborn genetic diseases ⚠
p.Ala739Ser Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ala768Pro Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ala821Thr Single submitter ⚠
p.Ala840Thr Single submitter Ehlers-Danlos syndrome ⚠
p.Ala883Ser Single submitter Inborn genetic diseases ⚠
p.Ala883Thr Single submitter ⚠
p.Ala898Gly Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg194Gly Single submitter ⚠
p.Arg248Lys Single submitter ⚠
p.Arg335Cys Single submitter Inborn genetic diseases ⚠
p.Arg425Cys Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg538Gln Single submitter ⚠
p.Arg538Gly Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg556Ser Single submitter ⚠
p.Arg59Lys Single submitter ⚠
p.Arg716Cys Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg716Gly Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg716Ser Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg837Lys Single submitter ⚠
p.Arg884Trp Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg892Thr Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Arg933fs Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Asn119His Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Asn204Ser Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Asn553Ser Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Asn557Thr Single submitter Inborn genetic diseases ⚠
p.Asn745Tyr Single submitter Inborn genetic diseases ⚠
p.Asn809Lys Single submitter Inborn genetic diseases ⚠
p.Asp396Glu Single submitter Inborn genetic diseases ⚠
p.Asp438His Single submitter Inborn genetic diseases ⚠
p.Asp454Asn Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Asp570Glu Single submitter Inborn genetic diseases ⚠
p.Asp611Gly Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Asp820Gly Single submitter ⚠
p.Asp853Glu Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Asp861Gly Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Asp93Asn Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Asp93His Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Asp942fs Single submitter
p.Asp942Gly Single submitter Inborn genetic diseases ⚠
p.Cys113Tyr Single submitter ⚠
p.Cys18Tyr Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Gln548Leu Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Gln747Ter Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gln801Ter Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gln828fs Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gln828Glu Single submitter Inborn genetic diseases ⚠
p.Glu353Gln Single submitter Inborn genetic diseases ⚠
p.Glu409Lys Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Glu65Lys Single submitter ⚠
p.Glu788Asp Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Glu855Val Single submitter Inborn genetic diseases ⚠
p.Glu868Lys Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Gly186Val Single submitter ⚠
p.Gly216Val Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Gly398Cys Single submitter Inborn genetic diseases ⚠
p.Gly398Ser Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Gly424Glu Single submitter Inborn genetic diseases ⚠
p.Gly474Ala Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Gly474Arg Single submitter ⚠
p.Gly500Asp Single submitter Inborn genetic diseases ⚠
p.Gly543Arg Single submitter Inborn genetic diseases ⚠
p.Gly601Ser Single submitter Inborn genetic diseases ⚠
p.Gly643Arg Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Gly678Arg Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Gly874Ser Single submitter ⚠
p.Gly881Arg Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.His392Tyr Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.His562Gln Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.His573Tyr Single submitter Inborn genetic diseases ⚠
p.His748Tyr Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ile14Lys Single submitter Inborn genetic diseases ⚠
p.Ile410Val Single submitter ⚠
p.Ile607Met Single submitter Inborn genetic diseases ⚠
p.Ile665Val Single submitter ⚠
p.Ile731Thr Single submitter ⚠
p.Ile793Val Single submitter Inborn genetic diseases ⚠
p.Ile796Thr Single submitter ⚠
p.Ile836Met Single submitter ⚠
p.Ile836Phe Single submitter Inborn genetic diseases ⚠
p.Ile850Thr Single submitter Inborn genetic diseases ⚠
p.Ile850Val Single submitter ⚠
p.Ile941Val Single submitter Inborn genetic diseases ⚠
p.Leu109Val Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Leu140= Single submitter
p.Leu140Phe Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Leu415Val Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Leu517Val Single submitter Inborn genetic diseases ⚠
p.Leu558fs Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Leu561Pro Single submitter Inborn genetic diseases ⚠
p.Leu580Phe Single submitter ⚠
p.Leu613Ile Single submitter Inborn genetic diseases ⚠
p.Leu778Val Single submitter Inborn genetic diseases ⚠
p.Leu848Pro Single submitter Inborn genetic diseases ⚠
p.Leu848Val Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Lys176Asn Single submitter Inborn genetic diseases ⚠
p.Lys234Arg Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Lys512Asn Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Lys783Glu Single submitter Inborn genetic diseases ⚠
p.Lys839Glu Single submitter ⚠
p.Lys857Glu Single submitter Inborn genetic diseases ⚠
p.Met111Val Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Met211Val Single submitter Inborn genetic diseases ⚠
p.Met240Val Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Met273Val Single submitter Inborn genetic diseases ⚠
p.Met297Ile Single submitter ⚠
p.Met32Lys Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Met334Val Single submitter ⚠
p.Phe12Ile Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Phe19Leu Single submitter Inborn genetic diseases ⚠
p.Phe294Cys Single submitter ⚠
p.Phe305Leu Single submitter Inborn genetic diseases ⚠
p.Phe479Leu Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Phe479Val Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Phe770Leu Single submitter Inborn genetic diseases ⚠
p.Phe770Val Single submitter Inborn genetic diseases ⚠
p.Phe904Leu Single submitter ⚠
p.Pro288Leu Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Pro382Ser Single submitter Inborn genetic diseases ⚠
p.Pro453Leu Single submitter ⚠
p.Pro497fs Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Pro733Leu Single submitter Inborn genetic diseases ⚠
p.Pro751Arg Single submitter Inborn genetic diseases ⚠
p.Pro849His Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ser10Asn Single submitter ⚠
p.Ser380Leu Single submitter Inborn genetic diseases ⚠
p.Ser413Pro Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Ser508Thr Single submitter ⚠
p.Ser520Thr Single submitter Inborn genetic diseases ⚠
p.Ser797Pro Single submitter ⚠
p.Ser81Arg Single submitter Inborn genetic diseases ⚠
p.Ser952Thr Single submitter Inborn genetic diseases ⚠
p.Ser954Phe Single submitter Inborn genetic diseases ⚠
p.Thr233Asn Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Thr266Ala Single submitter ⚠
p.Thr3Asn Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Thr582Ile Single submitter ⚠
p.Thr622Ala Single submitter Inborn genetic diseases ⚠
p.Thr634Ile Single submitter Inborn genetic diseases ⚠
p.Thr786Ser Single submitter Inborn genetic diseases ⚠
p.Trp232Arg Single submitter ⚠
p.Trp397Cys Single submitter Inborn genetic diseases ⚠
p.Trp948Ter Single submitter Ehlers-Danlos syndrome, musculocontractural type 2
p.Tyr639Phe Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Tyr697Cys Single submitter Inborn genetic diseases ⚠
p.Tyr867His Single submitter Inborn genetic diseases ⚠
p.Tyr900Cys Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Tyr922Cys Single submitter ⚠
p.Val114Leu Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Val327Ala Single submitter Inborn genetic diseases ⚠
p.Val351Met Single submitter Inborn genetic diseases ⚠
p.Val465Leu Single submitter Inborn genetic diseases ⚠
p.Val534Met Single submitter Inborn genetic diseases ⚠
p.Val569Ala Single submitter Inborn genetic diseases ⚠
p.Val569Leu Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Val598Leu Single submitter ⚠
p.Val685Ala Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Val752Met Single submitter ⚠
p.Val764Asp Single submitter Inborn genetic diseases ⚠
p.Val822Ala Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Val938Phe Single submitter Ehlers-Danlos syndrome, musculocontractural type 2 ⚠
p.Gly523Glu No assertion criteria Ehlers-Danlos syndrome, musculocontractural type 2 ⚠