Sugi Variant

Sugi Variant/ADAMTS2

ADAMTS2 — 1915 ClinVar variants

All ClinVar germline ADAMTS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 572 flagged for review →

41 Pathogenic · 17 Pathogenic/Likely pathogenic · 61 Likely pathogenic · 92 Conflicting · 107 Benign · 22 Benign/Likely benign · 907 Likely benign · 668 Uncertain significance

Full ADAMTS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 572

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 16

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

Predictors lean, ClinVar uncertain 317

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 317

Predictors split 239

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 239

All ADAMTS2 variants

Pathogenic 41

  • p.Gln225Ter Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala505fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala8fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg1003fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg906Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asn36fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asp44fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Cys1002fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Cys392Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Cys492Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Cys539fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Cys615Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu104fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu142Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu358Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu635Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu857Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gly144fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gly602fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.His282fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.His642fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.His675fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu11fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu18fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu198fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu221fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Met538fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Phe1009Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro224fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro4fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro976fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ser76Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Trp139Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Trp345Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Trp923Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Tyr157fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Tyr157Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Tyr266Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Tyr682fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Val667fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Val92fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type

Pathogenic/Likely pathogenic 17

  • p.Ala42fs Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala89fs Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg1030Ter Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg980Ter Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asp535fs Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Cys659Ter Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gln454Ter Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gln608Ter Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu800Ter Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Met791fs Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro33fs Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro34fs Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro46fs Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Trp567Ter Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Tyr834_Met835insTer Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Val854fs Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Trp795Ter No assertion criteria Ehlers-Danlos syndrome, dermatosparaxis type

Likely pathogenic 61

  • c.2085+1G>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.3088+1G>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.688+1G>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.688+2T>C Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.689-9_695del Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-2A>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.139+2T>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2457+1G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2458-2A>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2958+1G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2959-1G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.3088+1del Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.3179-1del Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.535-1G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.891+1G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.891+2T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala15fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala35fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala43fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala441fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg1047fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg10fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Cys175Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Cys392fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Cys689fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gln1064fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gln440Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu1018fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu142fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu800fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu973Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gly308fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gly47fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.His310fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.His52fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu130fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu151fs Single submitter
  • p.Leu16fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu19fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu20fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu329fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Lys772fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Met1Arg Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Met1Val Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro822fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ser154fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ser232fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ser829Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Thr808fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Trp448Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Trp475Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Trp552Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Trp567Cys Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Tyr379Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Tyr459Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Tyr524fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Val439fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Val848fs Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2458-6_2458del No assertion criteria Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg1024fs No assertion criteria Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Lys547Ter No assertion criteria Ehlers-Danlos syndrome, dermatosparaxis type

Conflicting classifications of pathogenicity 92

  • c.1132+9C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.139+4G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2290+15C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2751-15G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2751-4G>A Single submitter Ehlers-Danlos syndrome
  • c.2958+14C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2958+4C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2959-13T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.3089-6C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.3089-7C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.-5C>T Single submitter
  • p.Ala203Thr Single submitter Ehlers-Danlos syndrome ⚠
  • p.Ala242Thr Single submitter Ehlers-Danlos syndrome ⚠
  • p.Ala250Thr Single submitter Ehlers-Danlos syndrome ⚠
  • p.Ala257Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala257Val Single submitter Inborn genetic diseases ⚠
  • p.Ala262Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala43dup Single submitter Ehlers-Danlos syndrome
  • p.Ala472Thr Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala477= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala54Val Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala764= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala86= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala896= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala907Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala956Thr Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg1182Ter Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg1203Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg125Trp Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg254= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg628His Single submitter ADAMTS2-related disorder ⚠
  • p.Arg672Leu Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg87Leu Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg932Gln Single submitter Ehlers-Danlos syndrome ⚠
  • p.Arg978His Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg998= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asn1114= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asn909= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asp1006= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asp1117= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asp361= Single submitter Ehlers-Danlos syndrome
  • p.Asp638= Single submitter Ehlers-Danlos syndrome
  • p.Asp948Asn Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Cys659= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Cys715= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu1141= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu149= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu794= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu965Lys Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly1026= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gly1065= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gly1065Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly141= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gly230= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gly273= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gly704Ser Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly871= Single submitter Ehlers-Danlos syndrome
  • p.Gly977Asp Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.His412= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.His813= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ile703= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu21_Leu23dup Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu22_Leu23del Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu22_Leu23dup Single submitter Ehlers-Danlos syndrome
  • p.Leu23del Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu23Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu27_Pro29dup Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu307= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu644= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Lys547= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro1184Leu Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro24Leu Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro32Ser Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro34dup Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro388= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro3Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro476= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro964= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ser1052Ala Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ser218Phe Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ser374= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ser914= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ser939= Single submitter Ehlers-Danlos syndrome
  • p.Thr1122= Single submitter Ehlers-Danlos syndrome
  • p.Thr817= Single submitter Ehlers-Danlos syndrome
  • p.Tyr266= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Tyr605= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Val148Met Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Val756Ala Single submitter Ehlers-Danlos syndrome ⚠
  • p.Val823= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Val937= Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Val954Met Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠

Benign 107

Benign/Likely benign 22

  • c.1383-16C>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2085+11A>G Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2958+20C>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.689-18G>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.689-19C>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala1005Val Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Ala199Val Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg255Gln Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Arg691= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg827Gln Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asp234Gly Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asp263= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asp700= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Cys1093= Multiple submitters Ehlers-Danlos syndrome
  • p.Gly548= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gly565= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gly665Arg Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Gly921= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu27_Pro33dup Multiple submitters Ehlers-Danlos syndrome
  • p.Phe496= Multiple submitters Ehlers-Danlos syndrome
  • p.Pro532= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Tyr486= Multiple submitters Ehlers-Danlos syndrome

Likely benign 907

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

  • c.1132+11C>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1133-20C>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1238+110C>T Multiple submitters
  • c.1239-12C>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1239-4G>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1382+12C>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1382+20C>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-15G>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.140-13C>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.140-7G>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1629+1008G>A Multiple submitters
  • c.1951+116G>T Multiple submitters
  • c.1952-23_1952-16del Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2085+17C>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2085+18G>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2085+8C>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2086-106C>A Multiple submitters
  • c.2210-21_2210-20del Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2290+16G>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2291-72C>T Multiple submitters
  • c.2458-71C>G Multiple submitters
  • c.2458-77A>G Multiple submitters
  • c.2617+13C>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2617+14G>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2617+19del Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2751-34G>A Multiple submitters
  • c.2958+7A>G Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2959-12C>G Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2959-152G>T Multiple submitters
  • c.3088+15G>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.3088+25C>T Multiple submitters
  • c.535-17T>C Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.535-20C>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.689-8C>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.891+102C>T Multiple submitters
  • c.891+19G>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.892-111T>C Multiple submitters
  • c.976-16C>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala1020= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala171= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala226= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala403= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala903= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala907= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg10= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg1133= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg241= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg493= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asn489= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asn960= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asp801= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Cys175= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu104= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Glu666= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gly244= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Gly792= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.His1113= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.His249= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.His356= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.His418= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.His675= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.His955= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ile191= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu1208= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu152= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu221= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu320= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu39= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu498= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu812= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Lys196= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Lys289= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Met501Val Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Phe1009= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Phe634= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Phe876= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro1184= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro14= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro224= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro25= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ser1052= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ser328= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ser563= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Thr217= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Thr354= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Thr508= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Thr728= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Tyr323= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Tyr459= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Val919= Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1132+119G>A Single submitter
  • c.1132+11C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1132+12C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1132+16G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1132+17C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1132+7C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1133-10C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1133-12G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1133-15C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1133-177C>T Single submitter
  • c.1133-19G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1133-19G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1133-4C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1133-5C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1133-8C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1238+10del Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1238+15G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1238+15G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1238+17A>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1239-14C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1239-16G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1239-17T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1239-5C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1239-6T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1382+13C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1382+14A>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1382+17T>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1382+19C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-11G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-15G>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-16C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-36C>G Single submitter
  • c.1383-39G>A Single submitter
  • c.1383-4A>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-5C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-6C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-6C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-7C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-8C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-8C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-9C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.139+12C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.139+13C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.139+14G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.139+17C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.139+19C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.139+28G>T Single submitter
  • c.139+9G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.140-10C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.140-15C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.140-16C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.140-17G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.140-18C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.140-18C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.140-50G>A Single submitter
  • c.140-5T>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.140-7G>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.140-7G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.140-9C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1515+10C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1515+17G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1515+18C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1515+256G>T Single submitter
  • c.1515+45del Single submitter
  • c.1515+49C>T Single submitter
  • c.1515+8T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1515+9G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1516-11C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1516-12G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1516-13T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1516-20_1516-19del Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1516-315C>T Single submitter
  • c.1516-4C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1516-7C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1516-8T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1516-9G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1629+111G>T Single submitter
  • c.1629+11A>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1629+199G>T Single submitter
  • c.1629+20T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1629+43G>A Single submitter
  • c.1629+7C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1629+997G>A Single submitter
  • c.1630-18T>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1630-19C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1630-251del Single submitter
  • c.1630-257A>T Single submitter
  • c.1630-287del Single submitter
  • c.1775+10C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1775+11C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1775+13C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1775+18C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1775+20C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1775+9G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1776-10T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1776-11T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1776-19C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1776-7C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1776-8T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1776-8T>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1776-9C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1776-9C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1951+15G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1951+164G>T Single submitter
  • c.1951+16A>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1951+17G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1951+18G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1951+19C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1951+7C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1951+8C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1952-11T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1952-17A>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1952-20C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1952-20C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1952-255C>T Single submitter
  • c.1952-279G>C Single submitter
  • c.1952-7C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1952-9C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1952-9C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2085+10C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2085+14G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2085+14G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2085+16C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2085+17C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2085+17C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2085+7A>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2085+8C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2086-10C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2086-12C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2086-14T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2086-15C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2086-15C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2086-181A>T Single submitter
  • c.2086-51T>C Single submitter
  • c.2086-5A>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2086-5A>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2086-6C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2086-76G>A Single submitter
  • c.2086-7C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2086-9C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2209+11C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2209+12C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2209+146G>A Single submitter
  • c.2209+14T>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2209+16C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2209+18C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2209+20C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2209+8G>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2209+9G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2210-4A>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2210-4A>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2210-6A>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2210-9C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2290+10A>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2290+13G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2290+15C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2290+18A>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2290+19C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2290+19C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2290+9C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2291-10C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2291-17G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2291-18T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2291-4T>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2291-95G>C Single submitter
  • c.2291-9del Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2457+11G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2457+12C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2457+13A>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2457+16G>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2457+17C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2457+180C>T Single submitter
  • c.2457+7C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2457+7C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2457+8C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2458-10del Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2458-15C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2458-15C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2458-18G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2458-18G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2458-19G>T Single submitter
  • c.2458-205dup Single submitter
  • c.2458-4dup Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2458-6G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2617+128G>A Single submitter
  • c.2617+13C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2617+152G>A Single submitter
  • c.2617+196C>G Single submitter
  • c.2617+7G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2617+8G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2617+9del Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2617+9G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2617+9G>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2617+9G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2618-147G>A Single submitter
  • c.2618-17G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2618-18C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2618-191C>T Single submitter
  • c.2618-20G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2618-261C>T Single submitter
  • c.2618-9T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2750+10C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2750+14G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2750+14G>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2750+15C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2750+16T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2750+17C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2750+18G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2750+256G>A Single submitter
  • c.2750+8C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type

Uncertain significance 668

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

  • c.1629+6G>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2086-3C>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2958+5G>A Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.3178+4A>G Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.3178+5C>T Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • c.-13C>A Multiple submitters
  • c.*2598A>G Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.22_26LLPPP[1] Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.234DSL[1] Multiple submitters Ehlers-Danlos syndrome
  • p.Ala1005Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1020Val Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Ala132Thr Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala200Val Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala363Thr Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala37Thr Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala37Val Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Ala41Pro Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala442Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala477Val Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala540Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala566Thr Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala639Thr Multiple submitters ⚠
  • p.Ala748Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala758Thr Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala897Thr Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Ala907Val Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala90Thr Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala90Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1016Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1016Leu Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg1021Lys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg1078Cys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg1133Gln Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg1133Trp Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg1182Gln Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg1183Gln Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg1183Ter Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Arg1203Gln Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg183Gln Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg183Trp Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg213His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg214Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg214Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg241Cys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg256Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg258His Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg317Gln Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg344Cys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg344His Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg368Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg424Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg430Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg430Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg450His Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg458His Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg493Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg493His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg507Gln Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Arg507Trp Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg560Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg56His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg575Cys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg612Cys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg623Cys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg628Cys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg649Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg679His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg691Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg803Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg827Trp Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg882Cys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg883Gln Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg892Cys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg892His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg932Trp Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg938Cys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg941Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg967His Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg968Gln Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg968Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg972Cys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg972His Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Asn1150Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Asn1192Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Asn299Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Asn312Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn522Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Asn590Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Asn595Asp Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Asn949Thr Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Asp1007Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1051Asn Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Asp1115Asn Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Asp234Asn Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Asp237Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Asp237Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp264Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp353Asn Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Asp357Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp427Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp474Asn Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Asp606Asn Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Asp617Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp845del Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Asp948del Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Cys926Arg Multiple submitters ⚠
  • p.Gln1013Pro Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gln440Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln587His Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gln754Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1197Gly Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Glu188Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu188Gly Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Glu195Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu331Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu635Gly Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Glu635Lys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Glu769Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu800Lys Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly1010Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly1026Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1209Arg Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly222Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly230Glu Multiple submitters ⚠
  • p.Gly230Val Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly244Asp Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Gly283Arg Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly333Arg Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly375Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly422Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly48Arg Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Gly48Glu Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly562Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly580Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly637Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly701Ser Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Gly802Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly872Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly982Arg Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Gly994Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.His1113Tyr Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.His1168Arg Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.His1168Pro Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.His447Arg Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ile557Val Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ile57Val Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ile744Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile836Leu Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Leu1123Phe Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Leu20_Leu23dup Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu221Val Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Leu23_Pro24insLeuLeuLeuLeuLeu Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu27_Pro33del Multiple submitters
  • p.Leu27_Pro34dup Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Leu39Phe Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Leu39Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu775Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu841Pro Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Lys683Glu Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Lys786Glu Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Lys878Asn Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Met1073Ile Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Met137Ile Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Phe116Val Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro1027Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro1048Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1126Thr Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro1164Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro1177Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro14Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro150Arg Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro219Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro25_Pro26insLeuLeu Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro25Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Pro25Leu Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro26del Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro32Leu Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro33_Pro34dup Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Pro45His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro46Gln Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro4Gln Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro523Ser Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro593Leu Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro733Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro822Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro945Leu Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Pro98Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1033Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser154Asn Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ser238Arg Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ser601Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser853Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser899Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser927Asn Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Thr1127Ile Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Thr504Met Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Thr579Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr728Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr79Met Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Thr805Met Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Thr933Ala Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Tyr347His Multiple submitters Inborn genetic diseases ⚠
  • p.Val1041Leu Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Val1102Met Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Val1118Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val1161Ile Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Val581Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val714Met Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Val724Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Val765Ile Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Val793Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val940Met Multiple submitters Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • c.1132+5G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1132+6C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1383-3C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.139+3A>G Single submitter
  • c.139+4G>C Single submitter Ehlers-Danlos syndrome
  • c.139+6T>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1516-3C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.1951+3G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2086-7C>G Single submitter
  • c.2290+3G>A Single submitter
  • c.2457+16G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2750+3G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.2959-6C>T Single submitter Ehlers-Danlos syndrome
  • c.2959-7C>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.534+6T>A Single submitter
  • c.-12_-2del Single submitter
  • c.-33C>T Single submitter
  • c.-45T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.-6G>T Single submitter
  • c.*1077A>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*1361A>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*1411G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*1446dup Single submitter
  • c.*1589T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*1747A>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*174G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*1777T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*181C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*1837T>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*183T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*1919T>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2035G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2064A>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2147C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2169G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2180C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*222C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2270C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2302C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2440G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2511C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2589T>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2595C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2724A>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2820C>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2840T>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*2853G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*353C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*518G>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*524G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*550G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*615T>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*707A>G Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*813G>C Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*835C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*843G>A Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • c.*985C>T Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.234DSL[3] Single submitter Ehlers-Danlos syndrome, dermatosparaxis type
  • p.Ala15Val Single submitter ⚠
  • p.Ala167Val Single submitter Inborn genetic diseases ⚠
  • p.Ala199Glu Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala200Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala203Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala231Thr Single submitter ⚠
  • p.Ala242Gly Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala262Arg Single submitter
  • p.Ala309Val Single submitter Inborn genetic diseases ⚠
  • p.Ala35Thr Single submitter ⚠
  • p.Ala403Val Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala43Gly Single submitter ⚠
  • p.Ala442Asp Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala505Val Single submitter Inborn genetic diseases ⚠
  • p.Ala685Thr Single submitter ⚠
  • p.Ala685Val Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala746Val Single submitter ⚠
  • p.Ala748Thr Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala758Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala783Thr Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala897Ser Single submitter ⚠
  • p.Ala8Thr Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala962Thr Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala962Val Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Ala969Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg1003Cys Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg1016= Single submitter Ehlers-Danlos syndrome
  • p.Arg1024Ser Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg1047His Single submitter Ehlers-Danlos syndrome, dermatosparaxis type ⚠
  • p.Arg1078His Single submitter Inborn genetic diseases ⚠