Sugi Variant

Sugi Variant/COL5A2

COL5A2 — 2362 ClinVar variants

All ClinVar germline COL5A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 915 flagged for review →

27 Pathogenic · 1 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 213 Conflicting · 134 Benign · 117 Benign/Likely benign · 948 Likely benign · 881 Uncertain significance

Full COL5A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 915

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 144

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 577

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 577

Predictors split 191

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 191

All COL5A2 variants

Pathogenic 27

  • p.Pro659= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1159-60_2031+62dup Single submitter Ehlers-Danlos syndrome, classic type, 2
  • c.1402-2A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1924-4C>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2499+2_2499+4dup Single submitter Ehlers-Danlos syndrome, classic type, 2
  • c.2769+2dup Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.3147+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.3201+1G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.690+5G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.1219PPG[1] Single submitter
  • p.Arg1136Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Arg130fs Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Arg356Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Arg713Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Asn1407fs Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Asp185fs Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Asp974fs Single submitter Ehlers-Danlos syndrome, classic type
  • p.Gly1161Val Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly129fs Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Gly324Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Gly369Ser Single submitter Ehlers-Danlos syndrome, classic type, 2
  • c.1617+4A>G No assertion criteria Ehlers-Danlos syndrome, classic type
  • c.1924-2_1928del No assertion criteria Ehlers-Danlos syndrome, classic type
  • c.2031+1G>T No assertion criteria Ehlers-Danlos syndrome, classic type
  • c.2553+2del No assertion criteria Ehlers-Danlos syndrome, classic type
  • c.3148-2A>G No assertion criteria Ehlers-Danlos syndrome, classic type
  • p.Ile1433fs No assertion criteria Ehlers-Danlos syndrome, classic type

Pathogenic/Likely pathogenic 1

  • p.Gly252Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1

Likely pathogenic 41

  • c.1159-1G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.2391+5G>A Multiple submitters COL5A2-related disorders
  • c.369+1G>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1302+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1563+2T>G Single submitter COL5A2-related disorder
  • c.1617+4A>T Single submitter COL5A2-related disorders
  • c.1770+2T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1924-11T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1977+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2031+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 2
  • c.2130+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2553+1G>T Single submitter Ehlers-Danlos syndrome, classic type, 2
  • c.2662-2A>G Single submitter Ehlers-Danlos syndrome
  • c.3040-2A>G Single submitter
  • c.3309+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.3363+1G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.568-316_3525+41del Single submitter Ehlers-Danlos syndrome, classic type, 2
  • c.98-1G>T Single submitter Ehlers-Danlos syndrome, classic type, 2
  • p.Gly1149Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Gly1182Cys Single submitter
  • p.Gly228Arg Single submitter
  • p.Gly276Ser Single submitter Ehlers-Danlos syndrome, classic type, 2
  • p.Gly339Glu Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Gly372Trp Single submitter
  • p.Gly396Arg Single submitter Ehlers-Danlos syndrome, classic type
  • p.Gly501Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Gly636Ala Single submitter Ehlers-Danlos syndrome, classic type, 2
  • p.Gly645Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Gly702Arg Single submitter
  • p.Gly762Asp Single submitter Ehlers-Danlos syndrome, classic type, 2
  • p.Gly801Ser Single submitter
  • p.Gly945Arg Single submitter Ehlers-Danlos syndrome, classic type, 2
  • p.Pro1036_Ser1039del Single submitter Ehlers-Danlos syndrome, classic type, 2
  • p.Pro962fs Single submitter Ehlers-Danlos syndrome, classic type, 2
  • p.Gly1077fs No assertion criteria Ehlers-Danlos syndrome, classic type, 2
  • p.Gly1164Arg No assertion criteria Ehlers-Danlos syndrome, classic type, 2
  • p.Gly1455Glu No assertion criteria keratoconus ⚠
  • p.Gly408Trp No assertion criteria familial thoracic aortic aneurysm and aortic dissection
  • p.Gly573Cys No assertion criteria aortic aneurysm, familial thoracic 10
  • p.Gly978Ser No assertion criteria familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1324fs No assertion criteria COL5A2-related disorder

Conflicting classifications of pathogenicity 213

  • c.1005+3A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1006-8G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1402-10T>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1455+6del Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1563+5A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1564-8A>T Single submitter Ehlers-Danlos syndrome
  • c.1923+3dup Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2392-4A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2499+1G>A Single submitter COL5A2-related disorders ⚠
  • c.2553+5A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.3201+14C>T Single submitter connective tissue disorder
  • c.322+1G>C Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • c.322+8T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.3310-4T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.3471+3A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.3471+8A>T Single submitter connective tissue disorder
  • c.403-3T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.4114-20_4114-19del Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.*904A>C Single submitter
  • p.Ala1013= Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Ala1013Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1024Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1024Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1115Pro Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Ala1232Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1305Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1470Val Single submitter Ehlers-Danlos syndrome, classic type ⚠
  • p.Ala233Thr Single submitter Ehlers-Danlos syndrome ⚠
  • p.Ala352= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala358Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala389Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala541Ser Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Ala592Val Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Ala6Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala6Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala872Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala881Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala914= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala914Val Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Ala929Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1001His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1060Trp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1067Cys Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Arg1070Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1070His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1106Trp Single submitter connective tissue disorder ⚠
  • p.Arg1114Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1127Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1136Leu Single submitter Ehlers-Danlos syndrome, classic type ⚠
  • p.Arg1283His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg128Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg128His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1294His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg130Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg130His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1391His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg143= Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Arg1440Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1442Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1442Trp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1453Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg146Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1471Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1471His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg155Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg155His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg254Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg356Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg545Trp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg598His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg665= Single submitter Ehlers-Danlos syndrome
  • p.Arg830Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg830Trp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg836Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg836Pro Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Arg944Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg944His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg952Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg952His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg956Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asn1189Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asn1329Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asn1454Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn1468Asp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asp1129Asn Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Asp1265Gly Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Asp1356Gly Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asp185Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asp78Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp78Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asp84Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asp84His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asp854Glu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gln1141Pro Single submitter Familial aortopathy
  • p.Gln1163Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gln1307Glu Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Gln668Lys Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Gln98Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Glu1066Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Glu1216Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu29Gly Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Glu565Gln Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Glu565Lys Single submitter connective tissue disorder ⚠
  • p.Gly1008Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly1083Asp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly1131Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly126Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly1484Ser Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Gly213Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly339= Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Gly471Ala Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Gly612Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly831Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly876Glu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly894Glu Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Gly936= Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Gly951Glu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly984Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly990= Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Gly990Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.His488Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ile1279Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ile1279Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ile1439Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ile1444Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile1475Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile605Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ile724Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ile994Thr Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Leu12Phe Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Leu295Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu803Ser Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Leu80Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Lys1028= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1406Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Lys201Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Lys25= Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Lys431Arg Single submitter COL5A2-related disorder ⚠
  • p.Lys743Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Met1006Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met1244Ile Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Met2Thr Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Met329Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Met361Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1007Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1021Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1031Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1103= Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Pro1103Leu Single submitter Ehlers-Danlos syndrome ⚠
  • p.Pro1195Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1213Leu Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Pro1213Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1220Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1223Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1226Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro133Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1359His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1380Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro238Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro250Leu Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Pro284= Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Pro284Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro290= Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Pro341Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro397Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro410Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro467= Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Pro493Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro497= Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Pro505Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro524Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro553Arg Single submitter connective tissue disorder ⚠
  • p.Pro56Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro589Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro599Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro638Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro658Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro659Leu Single submitter connective tissue disorder ⚠
  • p.Pro670Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro701= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro706Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro764Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro764Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro808Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro875Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro88His Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Pro904Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro961Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro961Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro962Ser Single submitter Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Ser1276Gly Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ser23Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ser883Tyr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Thr1057Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Thr1230Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr1382Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Thr434= Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Thr755Pro Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Thr87Met Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Thr988Met Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Tyr1362Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Val1181Gly Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Val1205Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Val1205Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val1445Ile Single submitter Ehlers-Danlos syndrome, classic type ⚠
  • p.Val1457Met Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Val1499Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Val22Ile Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Val704Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Val79Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val845Ile Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Val859Ala Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Val95Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠

Benign 134

Benign/Likely benign 117

  • c.1006-9C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1104+15T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1455+6G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1455+6G>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1456-20T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.1618-19C>G Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.1716+9A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1923+8T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1977+12T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.2032-7G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.2086-13_2086-12dup Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2086-23dup Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2230-16T>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2337+9dup Multiple submitters
  • c.2338-6T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2554-14A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.2661+13G>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2661+20G>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2715+11T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2716-4C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.2769+19A>T Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.2770-15del Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2770-5A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2931+11C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2931+18G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3039+15C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3039+7A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3201+17T>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.322+18C>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.323-6T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3309+16A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3364-17C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.370-16C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.403-16T>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.4114-11T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.567+17G>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.568-10G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.745-13G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.798+10C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.799-6A>G Multiple submitters genetic developmental and epileptic encephalopathy
  • c.852+14C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.906+10A>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.906+9A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.961-11dup Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.961-14T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.961-3del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.98-12T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.98-13T>A Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.-34C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.-50C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.*1165G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.*1402T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.*1669G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.*1852T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.*1904C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.*1960A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.*19G>A Multiple submitters
  • c.*2131T>A Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.*298G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.*392T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.*46C>A Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • p.Ala1256= Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • p.Ala394= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ala421Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ala83= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ala848= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ala907= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala929= Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • p.Arg1136Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Arg1294Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Arg1391= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Arg956Pro Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Asn66= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Asp1413= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Asp1414Asn Multiple submitters connective tissue disorder
  • p.Asp1432Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Asp854= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Cys62= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln1399= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gln878= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu1463= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly1483= Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • p.Gly1490= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly345= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly396= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly513= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly606= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly781= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly792= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly996= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ile1196= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ile1279= Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • p.Leu11= Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • p.Met361Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Phe1489= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro1007= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro1033Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro250= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro325= Multiple submitters Ehlers-Danlos syndrome
  • p.Pro460Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro467Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • p.Pro485Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Pro514= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro671Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • p.Pro833Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro904= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro931= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1230= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Thr1230Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Thr1295= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Thr1485= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr434Met Multiple submitters connective tissue disorder
  • p.Thr87= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Tyr1240= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Tyr1464= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Val1491Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val512Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1

Likely benign 948

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

  • c.1005+10C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1005+11G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1006-4A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1006-69G>C Multiple submitters
  • c.1059+15T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.1059+9A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1105-11T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1105-18T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1158+14G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1159-10A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1159-13T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1159-16C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1159-18C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1159-227A>C Multiple submitters
  • c.1159-246T>C Multiple submitters
  • c.1159-7C>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1257+12G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1258-91T>G Multiple submitters
  • c.1302+9T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1303-16T>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1456-11G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1456-17C>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1617+9G>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1618-17G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1618-8C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1716+12G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1716+13C>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1717-86A>G Multiple submitters
  • c.1869+17A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1869+19A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1923+11A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1924-16C>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1977+61G>A Multiple submitters
  • c.1977+9T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2085+7G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2130+125T>A Multiple submitters
  • c.2130+16T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2131-29G>C Multiple submitters
  • c.2229+10A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2229+59G>A Multiple submitters
  • c.2337+143A>G Multiple submitters
  • c.2337+62G>T Multiple submitters
  • c.2338-24A>G Multiple submitters
  • c.2392-18T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2392-41C>T Multiple submitters
  • c.2446-17T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2446-84A>G Multiple submitters
  • c.2553+18C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2553+88G>A Multiple submitters
  • c.2554-5T>C Multiple submitters connective tissue disorder
  • c.2715+16G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2715+18T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2715+42C>A Multiple submitters
  • c.2716-5T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2769+10C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2769+14G>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2770-14_2770-11del Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2770-34G>T Multiple submitters
  • c.2770-6T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2932-162G>A Multiple submitters
  • c.3039+13A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3039+16G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3040-190G>A Multiple submitters
  • c.3040-19A>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3040-40A>G Multiple submitters
  • c.3040-9C>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3148-15C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3148-9T>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3201+15A>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3202-62A>G Multiple submitters
  • c.323-15C>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3309+100C>T Multiple submitters
  • c.3309+107G>T Multiple submitters
  • c.3310-108T>C Multiple submitters
  • c.3364-18C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.337-9A>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.3525+9del Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • c.3526-45A>T Multiple submitters
  • c.3633+107C>T Multiple submitters
  • c.369+80T>A Multiple submitters
  • c.3925+37G>T Multiple submitters
  • c.3926-25G>C Multiple submitters
  • c.403-292C>A Multiple submitters
  • c.4113+16del Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.4114-14C>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.4114-17A>G Multiple submitters
  • c.4114-18_4114-17del Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.4114-20A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.4353+14G>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.4353+8C>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.456+18C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.457-59G>A Multiple submitters
  • c.457-6T>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.567+7T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.645+108C>T Multiple submitters
  • c.690+17T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.691-15T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.691-4G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.744+18A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.798+184C>T Multiple submitters
  • c.798+43C>T Multiple submitters
  • c.853-13G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.853-89T>C Multiple submitters
  • c.906+12C>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.906+14A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.906+20A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.906+28A>G Multiple submitters
  • c.907-5C>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.960+11A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.961-10T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ala1428= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ala1470Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala316= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala592= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ala592Gly Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Arg1060= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg287= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn1040Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Asn1054= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Asn1400= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Asn44= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1235= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1241= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1297= Multiple submitters
  • p.Asp1476= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Asp1481= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Asp778= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Asp980= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys76= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Cys96= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln229= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gln60= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gln761= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu163= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu31= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Glu631= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu865= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly1002= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly1065= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly1074= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly108= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly1083= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly1089= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1110= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly1116= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly113= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly1194= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1218= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly1363= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1369= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly183= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly205= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly372= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly393= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly480= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly537= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly603= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly615= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly681= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly717= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly723= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly726= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly774= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly777= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly798= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly837= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly90= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly999= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.His1144= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.His1239= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1384= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ile1444= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ile15Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu1301= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Leu1393= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Leu210= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu707= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1142= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1306= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1325= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1417= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys785= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Phe1372= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro1171= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro1223= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro1245Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro1249= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro1266= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro1285= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro133= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro1345= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro1380= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro1495= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro164= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro176= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro179= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro190= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro245= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro317Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro374= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro493= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro509= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro530= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro706= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro764= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro775= Multiple submitters
  • p.Pro808= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro850= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro866= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro935= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro962Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro965= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Pro983Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ser1243Asn Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ser1288= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ser1304= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser1379= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ser451Pro Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ser532= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser949Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ser97= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Thr1264= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1264Met Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • p.Thr1388= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr326= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Thr751= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr988= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Thr989= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val1461= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val953= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1005+15T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1005+17T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1005+200C>T Single submitter
  • c.1005+7G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1006-11A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1006-14T>C Single submitter
  • c.1006-16_1006-14del Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1006-19del Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1006-20T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1006-20T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1006-9C>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1059+11_1059+12del Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1059+13G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1059+13G>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1059+7A>G Single submitter
  • c.1059+8T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1059+8T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1060-14T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1060-17C>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1060-4T>A Single submitter
  • c.1060-6A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1060-7T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1104+115T>C Single submitter
  • c.1104+116T>C Single submitter
  • c.1104+12T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1104+15T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1105-13T>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1105-17C>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1105-19T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1105-3T>C Single submitter
  • c.1158+13T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1158+20A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1158+8G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1159-10A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1159-11C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1159-12G>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1159-13T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1159-8C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1257+11A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1257+13C>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1257+16A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1257+55C>T Single submitter
  • c.1257+75A>G Single submitter
  • c.1258-16T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1258-7C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1258-8C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1302+17T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1302+20C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1303-8T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1303-9G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1401+13G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1401+18A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1401+281T>G Single submitter
  • c.1401+9C>G Single submitter
  • c.1402-13A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1402-17C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1402-207T>A Single submitter
  • c.1402-20T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1402-5T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1455+20A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1456-10T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1456-16C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1563+11A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1563+19A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1563+217C>G Single submitter
  • c.1564-19A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1564-235C>A Single submitter
  • c.1564-37C>T Single submitter
  • c.1564-9C>T Single submitter
  • c.1617+11C>T Single submitter Ehlers-Danlos syndrome, classic type, 1

Uncertain significance 881

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

  • c.1005+4T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1618-7G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1716+5G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.1717-3C>T Multiple submitters connective tissue disorder
  • c.1770+4A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.2031+3A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.3309+5G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.568-11C>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • c.798+5G>A Multiple submitters Ehlers-Danlos syndrome, classic type
  • p.Ala1076Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1084Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1293Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1323Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala134Pro Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1373Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala196Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala286Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Ala292Val Multiple submitters Ehlers-Danlos syndrome, classic type ⚠
  • p.Ala394Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala592Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala643Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala734Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala770Ser Multiple submitters connective tissue disorder ⚠
  • p.Ala796Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala881Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1001Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1060Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1067His Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1114Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1118Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1202Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg128Pro Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1346Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Arg1346His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1391Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1391Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg1453Trp Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg287Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg302Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg302Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Arg302Pro Multiple submitters Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Arg395Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Arg521Gly Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg527Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg527His Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Arg545Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg572Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Arg598Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg821Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg836Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Arg944Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg952Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asn1340Lys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asn1418Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn526Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asn832His Multiple submitters Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Asn890Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn890Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asp1246Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp1286Asn Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asp1356Glu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asp1413Gly Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asp1414Gly Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asp1432Gly Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Asp559Glu Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Asp596Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp754Gly Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Asp955Asn Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gln1278Lys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gln1378Arg Multiple submitters ⚠
  • p.Gln140Pro Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Glu1396Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu322Lys Multiple submitters COL5A2-related disorder ⚠
  • p.Glu343Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu865Asp Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Glu934Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly1092Asp Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly1113Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly1128Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly1131Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly1143Asp Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly1164Glu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly1212Asp Multiple submitters Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Gly1238Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Gly1309Asp Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly1369Glu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly1484Asp Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly1490Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly159Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly183Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly197Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly270Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Gly339Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly345Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly375Asp Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly45Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly498Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly546Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly561Arg Multiple submitters Ehlers-Danlos syndrome, classic type ⚠
  • p.Gly567Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly603Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly603Asp Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly654Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly781Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly810Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly834Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly837Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly855Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly921Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly936Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Gly964Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.His1239Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.His488Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His887= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Ile1196Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ile127Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ile127Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile1474Met Multiple submitters ⚠
  • p.Ile1474Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile422Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ile53Asn Multiple submitters Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Ile605Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Leu1275Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu1364Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu1393Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu347His Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Leu70Phe Multiple submitters COL5A2-related disorder ⚠
  • p.Leu80Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu823Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Lys1395= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys1395Glu Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • p.Lys691Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Lys691Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Met1237Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Met1244Lys Multiple submitters ⚠
  • p.Met1366Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Met1Val Multiple submitters Ehlers-Danlos syndrome, classic type, 2
  • p.Met763Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Phe107Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1030Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1037Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1048Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1088Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1090Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1111Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1112Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1169His Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1177Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro1195Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1198Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1214His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1217Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1247Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1359Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro136Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro164Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro164Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro190Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro220Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro223Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro310Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro328Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro337Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro380Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro416Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro449Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro517Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro553His Multiple submitters Ehlers-Danlos syndrome, classic type, 2 ⚠
  • p.Pro566Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro589Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro593Leu Multiple submitters Ehlers-Danlos syndrome, classic type ⚠
  • p.Pro611Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro683Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro692Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro701Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro709Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro752Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro758Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro841Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro850Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro853Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro857Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro866Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro922Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro931Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro947Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro977Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Pro998Leu Multiple submitters ⚠
  • p.Ser1165Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser1204Asn Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ser1277Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser436Phe Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ser451Phe Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ser829Phe Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Thr1057Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Thr1332Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr392Ile Multiple submitters Ehlers-Danlos syndrome, classic type, 1
  • p.Thr812Pro Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Trp54Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Val1043Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val1201Ile Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Val413Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Val824Ala Multiple submitters ⚠
  • p.Val95Asp Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
  • c.1005+5G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1059+6T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1105-4A>G Single submitter
  • c.1158+3A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1257+5G>C Single submitter
  • c.1402-15A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1402-3C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1455+3A>G Single submitter
  • c.1456-3C>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1456-4A>G Single submitter
  • c.1716+13C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1716+8T>C Single submitter
  • c.1717-31_1717-18del Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1770+6T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1869+3G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1869+7A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1924-17T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.1924-3T>A Single submitter
  • c.1977+4T>C Single submitter
  • c.1978-6A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2031+6C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2032-3T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2032-3T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2131-10T>G Single submitter
  • c.2391+12_2391+13insAAGAGTAAGTGAAAGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAGCACGAGGTCAGGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2392-2A>G Single submitter Ehlers-Danlos syndrome, classic type, 2
  • c.2446-13A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2446-35_2446-9del Single submitter Ehlers-Danlos syndrome
  • c.2499+6T>G Single submitter Ehlers-Danlos syndrome, classic type, 2
  • c.2553+30A>G Single submitter
  • c.2553+3A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2554-3T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2661+17_2661+20delinsCTTGAGTCAAGTTAA Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2715+4A>G Single submitter
  • c.2715+5G>A Single submitter
  • c.2769+5G>A Single submitter
  • c.2770-6T>A Single submitter
  • c.2931+5G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.2932-7A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.3039+3G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.3039+6T>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.3147+5_3147+16del Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.3309+6G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.3310-3T>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.336+3A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.336+4A>G Single submitter
  • c.336+5G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.3363+2T>C Single submitter Ehlers-Danlos syndrome, classic type, 2
  • c.3472-11T>G Single submitter
  • c.3472-3T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.3472-5C>G Single submitter
  • c.3526-1G>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.3634-3T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.369+2T>C Single submitter
  • c.3926-3T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.4113+3A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.456+3A>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.567+3G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.568-12T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.645+1G>A Single submitter
  • c.645+5G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.646-10T>A Single submitter
  • c.798+6C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.852+4A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.853-3C>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.906+3A>G Single submitter
  • c.907-15C>G Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.960+4A>G Single submitter
  • c.960+4A>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.961-2A>G Single submitter
  • c.98-22_98-18del Single submitter Ehlers-Danlos syndrome, classic type, 1
  • c.*126A>G Single submitter
  • c.*590dup Single submitter
  • c.*939G>T Single submitter
  • p.Ala1052Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1063Asp Single submitter ⚠
  • p.Ala1076Pro Single submitter ⚠
  • p.Ala1093Asp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1093Thr Single submitter ⚠
  • p.Ala1097Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1097Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1115Gly Single submitter ⚠
  • p.Ala1231Thr Single submitter ⚠
  • p.Ala1232Pro Single submitter Ehlers-Danlos syndrome, classic type, 1
  • p.Ala1256Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala134Ser Single submitter ⚠
  • p.Ala1397Gly Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1397Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1428Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1428Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala1435Thr Single submitter ⚠
  • p.Ala196Asp Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala233Val Single submitter ⚠
  • p.Ala323Pro Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala389Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
  • p.Ala40Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠