Sugi Variant

Sugi Variant/PLOD1

PLOD1 — 1354 ClinVar variants

All ClinVar germline PLOD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 474 flagged for review →

49 Pathogenic · 11 Pathogenic/Likely pathogenic · 46 Likely pathogenic · 83 Conflicting · 49 Benign · 23 Benign/Likely benign · 574 Likely benign · 519 Uncertain significance

Full PLOD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 474

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 29

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

Predictors lean, ClinVar uncertain 353

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 353

Predictors split 92

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

All PLOD1 variants

Pathogenic 49

  • p.Arg319Ter Multiple submitters Ehlers-Danlos syndrome
  • p.Gln327Ter Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gln56Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile599fs Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Thr624fs Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Tyr511Ter Multiple submitters Ehlers-Danlos syndrome
  • c.1756-1_1767dup Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.579+1G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Arg111fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Arg310fs Single submitter
  • p.Asn163fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Asn391fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Asn52fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Asn604fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Asp177fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Cys566Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gln195Ter Single submitter
  • p.Gln339Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gln399Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gln49Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gln605Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gln650Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu522fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu549fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu571Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu62fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu92Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gly591fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ile535fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Leu236fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Leu29Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Lys91fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Met1Ile Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Met1Val Single submitter
  • p.Met494fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Pro597fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Trp419Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Trp521Ter Single submitter hydrocephalus
  • p.Trp557Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Trp612Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Tyr252Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Tyr427Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Tyr434Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Tyr455fs Single submitter Ehlers-Danlos syndrome
  • p.Tyr455Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Tyr675Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1651-2del No assertion criteria Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1756_1902del No assertion criteria Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Trp612Cys No assertion criteria Ehlers-Danlos syndrome, kyphoscoliotic type 1

Pathogenic/Likely pathogenic 11

  • c.1097+1G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1470+2T>C Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1651-2A>G Multiple submitters PLOD1-related disorder
  • c.467-2del Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ala421fs Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Arg670Ter Multiple submitters PLOD1-related disorder
  • p.Asp135fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp234fs Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gln123Ter Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gln636Ter Multiple submitters Ehlers-Danlos syndrome
  • p.Gly678Arg Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1

Likely pathogenic 46

  • c.1202+2T>C Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-2A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.168+1G>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1903-2A>G Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.467-2A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala667Thr Multiple submitters PLOD1-related disorder
  • p.Trp530Ter Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1097+1G>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1202+1G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1202+2T>A Single submitter PLOD1-related disorder
  • c.1328+1G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1328+2_1328+3delTG Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1329-1G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-2A>T Single submitter PLOD1-related disorder
  • c.1584+1G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1585-2A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1839_1902+64del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1903-2A>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.302+1G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.303-2A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.580-2A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.644-2A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.76+1G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.76+2T>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.843+1del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.975+1G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.975+1G>C Single submitter
  • c.975+2_975+3insTT Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.976-2A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.976-2A>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Asp372fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gln327fs Single submitter Ehlers-Danlos syndrome
  • p.Gln489Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu139Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu432fs Single submitter PLOD1-related disorder
  • p.Glu528fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu594Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gly148fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gly695fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Leu28fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Leu581fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Leu85Pro Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ser346fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Tyr645Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Val95fs Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ile560fs No assertion criteria Ehlers-Danlos syndrome, kyphoscoliotic type 1

Conflicting classifications of pathogenicity 83

  • c.1098-3C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1098-5T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1202+3G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1202+7C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1203-3C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-17G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-8C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-9_1471-8delinsGT Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1584+10G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1584+1G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1651-2A>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.169-11T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1902+9G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1903-5T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.2029-3del Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.303-10C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.303-5C>T Single submitter Ehlers-Danlos syndrome
  • c.466+3G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.579+10A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.742-2A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.742-5G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.742-6C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.742-9C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.77-7T>C Single submitter Ehlers-Danlos syndrome
  • c.844-6G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ala18Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala366Val Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg111= Single submitter Ehlers-Danlos syndrome
  • p.Arg118= Single submitter Ehlers-Danlos syndrome
  • p.Arg193= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Arg203His Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg259His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg310Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg355Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg394= Single submitter Ehlers-Danlos syndrome
  • p.Arg441Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg463Gln Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg46His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg512Cys Single submitter Ehlers-Danlos syndrome ⚠
  • p.Asn391Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn391Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp234Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp271= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln315Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu170Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu194Asp Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Glu37Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu528Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu532del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu62Lys Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Glu67Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly291= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gly365= Single submitter PLOD1-related disorder
  • p.Gly607Ser Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.His225Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His325= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His474Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His700Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile280Thr Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Ile294= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile606= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ile720= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu188Phe Single submitter Ehlers-Danlos syndrome ⚠
  • p.Leu569Gln Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Lys278Gln Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys316= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Lys476= Single submitter Ehlers-Danlos syndrome
  • p.Lys476Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met1fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Phe724del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Pro190Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro692Leu Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser101= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser302Tyr Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Ser342= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser380= Single submitter Ehlers-Danlos syndrome
  • p.Thr262Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr268= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr550Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr562= Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Thr705Met Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Val292Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val643Ile Single submitter Cardiovascular phenotype

Benign 49

Benign/Likely benign 23

  • c.1328+17T>G Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1329-20G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1756-13C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1902+13G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1903-14dup Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.2028+8G>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.302+15G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.76+17C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.975+13C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.976-16C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ala120Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala84Thr Multiple submitters Ehlers-Danlos syndrome
  • p.Ala99Thr Multiple submitters Ehlers-Danlos syndrome
  • p.Arg499Trp Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Gln180= Multiple submitters Ehlers-Danlos syndrome
  • p.Glu170Val Multiple submitters Ehlers-Danlos syndrome
  • p.His312= Multiple submitters Ehlers-Danlos syndrome
  • p.Leu711= Multiple submitters Ehlers-Danlos syndrome
  • p.Lys185Asn Multiple submitters Ehlers-Danlos syndrome
  • p.Thr268Ala Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Thr388= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val381Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val596= Multiple submitters Ehlers-Danlos syndrome

Likely benign 574

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

  • c.1097+10G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1097+17A>C Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1097+19T>C Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1098-89G>A Multiple submitters
  • c.1202+14G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1328+27T>G Multiple submitters
  • c.1470+14G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1470+18A>G Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-13C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-18C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-6C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-9C>G Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1584+17C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1650+31C>A Multiple submitters
  • c.1650+79G>A Multiple submitters
  • c.1651-10C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.169-12G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.169-6C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1756-12G>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1903-18C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.2028+17C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.303-16G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.303-6C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.466+73G>A Multiple submitters
  • c.467-35G>C Multiple submitters
  • c.579+16C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.579+17G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.580-4G>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.643+15C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.644-11C>T Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.644-17_644-16del Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.741+77G>A Multiple submitters
  • c.741+7G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.742-13G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.77-20A>C Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.843+11G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.843+17G>C Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.975+14G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.976-15C>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ala16= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala18= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala228= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ala228Val Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ala357= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala359= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala361= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala383= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala544= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ala57= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala621= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala659= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ala721= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala99= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg137= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg275= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Arg310= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Arg319= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg370= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg588= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Asn243= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn453= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn518= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Asn584= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn595= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Asp103= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp179Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp201= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp282= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Asp384= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Asp433= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp491= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln398= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln399= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln439= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln467= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu112= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu39= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu563= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu571= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu611= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Glu92= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly20= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly341= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gly545= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Gly677= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly695= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His225= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.His317= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His536= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.His656= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.His88= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ile397= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ile487= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ile535= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ile601= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile666= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu10= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu210= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Leu285= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Leu368= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Leu387= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Leu396= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Leu4= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu516= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Leu520= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu543= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Leu569= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu58= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu653= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu81= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Lys115= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys141= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Lys278= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys45= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Lys546= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Lys626= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Phe263= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Phe662= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe724= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro190= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro237= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro24= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro258= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro286= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Pro314= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Pro406= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro479= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro527= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Pro553= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro597= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Pro629= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro712= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro727= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser122= Multiple submitters
  • p.Ser146= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ser176= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ser178= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ser276= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ser431= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ser510= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Thr32= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr514= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Thr624= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr70= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Thr705= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Tyr313= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr427= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Tyr428= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr434= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Tyr53= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr593= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Tyr675= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Val217= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val226= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Val288= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val290= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val350= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Val403= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val435= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val564= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Val642= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Val671= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val673= Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Val725= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1097+11G>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1097+13C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1097+14C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1097+17A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1097+17A>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1097+17dup Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1097+18G>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1097+219T>C Single submitter
  • c.1097+326A>T Single submitter
  • c.1097+7T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1097+7T>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1098-11C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1098-13C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1098-13C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1098-18G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1098-19T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1098-20_1098-19del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1098-20C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1098-230G>A Single submitter
  • c.1098-4G>A Single submitter
  • c.1098-52C>A Single submitter
  • c.1098-8C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1202+11T>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1202+12C>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1202+13C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1202+14G>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1202+15T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1202+19C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1202+9G>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1203-10C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1203-13T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1203-16del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1203-18G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1203-237A>T Single submitter
  • c.1203-32C>T Single submitter
  • c.1203-7C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1328+16dup Single submitter
  • c.1328+16G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1328+8C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1329-13G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1329-5C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1329-6C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1470+11A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1470+12G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1470+13C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1470+196G>A Single submitter
  • c.1471-14C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-16G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-17G>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-17G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-18C>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-18del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-20A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-315del Single submitter
  • c.1471-4C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-80C>G Single submitter
  • c.1471-8C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1471-9C>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1584+11G>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1584+12G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1584+138G>C Single submitter
  • c.1584+16G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1584+20A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1584+21dup Single submitter
  • c.1585-11A>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1585-17C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1585-17C>T Single submitter
  • c.1585-17CTTCCCA[3] Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1585-19T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1585-19T>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1585-269C>T Single submitter
  • c.1585-5C>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1585-7C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1585-8T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1585-9T>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1650+11T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1650+12G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1650+13del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1650+15C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1650+16_1650+19del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1650+18C>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1650+19C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1650+20T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1650+226del Single submitter
  • c.1650+8C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1651-16T>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1651-16T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1651-19G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1651-8C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.168+13C>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.168+16G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.168+286C>T Single submitter
  • c.168+9T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.169-15G>A Single submitter
  • c.169-16G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.169-17G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.169-4C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1755+106G>A Single submitter
  • c.1755+15C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1755+17_1755+18dup Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1755+20G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1755+20G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1755+3_1755+6dup Single submitter
  • c.1755+311G>T Single submitter
  • c.1755+40G>A Single submitter
  • c.1755+57G>A Single submitter
  • c.1755+9C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1755+9C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1756-13C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1756-15C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1756-6C>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1756-75G>A Single submitter
  • c.1756-7C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1756-9C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1902+16G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1902+19T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1903-128T>G Single submitter
  • c.1903-12G>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1903-15C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1903-16C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1903-17C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1903-18C>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1903-20del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1903-335G>A Single submitter
  • c.2028+11G>C Single submitter
  • c.2028+12C>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.2028+12C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.2028+16C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.2028+17C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.2028+18G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.2028+7A>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.2029-179C>T Single submitter
  • c.2029-20T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.2029-20T>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.302+15G>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.302+6_302+7insCTTTGCA Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1

Uncertain significance 519

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

  • c.302+5G>A Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.741+4G>C Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.976-3C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala357Val Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Ala366Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala405Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala421Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala621Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala721Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala721Thr Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Ala721Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala89Ser Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg111Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg111Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg118Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg118Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg118Trp Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg121Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg136Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg136His Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg137Thr Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg150Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg203Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg205Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg205Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg205His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg259Cys Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Arg275Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg275His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg2Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg307Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg307Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg310Trp Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg355Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg370Trp Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg373Cys Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg394Gln Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg410Gln Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg42Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg42His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg430Cys Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg43Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg441Gln Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg442Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg442His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg463Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg46Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg488Gln Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg512His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg588Cys Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg588His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg588Leu Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg610Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg610Trp Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg644Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg681Gln Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg684Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg684His Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg684Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg690Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg690Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg703Ter Multiple submitters
  • p.Arg718Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn197Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn255Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn324Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn324Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn498Lys Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Asn526Lys Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Asn587Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn587Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn595Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn65Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn686Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp103Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp175Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp179Asn Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Asp179His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp189_Pro190del Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Asp372Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp382Gly Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Asp491Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp491Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp519Asn Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Asp726Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys484Ser Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Cys566Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys566Tyr Multiple submitters ⚠
  • p.Gln119Lys Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Gln180Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln398Pro Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Gln490Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu216Asp Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Glu25Ala Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Glu272Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu335Asp Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Glu343Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu389Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu594Gly Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Glu594Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly159Ser Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Gly266Asp Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Gly281Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly545Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly591Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly59Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly61Glu Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Gly630Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly75Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His317Asn Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.His504Arg Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.His517Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His602Gln Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.His613Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile158Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile535Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile560Val Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Ile664Val Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Leu131Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu219Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu28Ile Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Leu303Val Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Leu311Phe Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Leu506Phe Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Leu569Pro Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Lys247Arg Multiple submitters ⚠
  • p.Lys316Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys646Arg Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Lys694Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met223Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met481Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met494Ile Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Met573Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met654Leu Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Met699Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe106del Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Phe126Val Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Phe304Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe493Ile Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Pro143Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro190Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro24Arg Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Pro258Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro286Ser Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Pro299Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro406Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro406Leu Multiple submitters Ehlers-Danlos syndrome ⚠
  • p.Pro406Ser Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Pro479Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro553Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro597Leu Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Pro597Ser Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Pro622Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro622Ser Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Pro629Ala Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Ser108Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser122Cys Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Ser178Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr246Ser Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Thr287Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr298Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr32Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr550= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr562Met Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Thr624Met Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Thr70Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr714Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Trp419Arg Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Tyr344Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr377Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr378Phe Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Tyr450Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr539His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr556Cys Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Val104Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val218Met Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Val226Ala Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Val238Phe Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Val269Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val30Ala Multiple submitters Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Val381Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val385Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val403Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val435Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val596Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val725Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val725Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.1097+3G>C Single submitter
  • c.1097+4A>G Single submitter
  • c.1328+7A>C Single submitter
  • c.1470+5G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1755+2T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1756-13C>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1756-20T>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.1756-6C>T Single submitter
  • c.1902+3G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.2028+3G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.302+3_302+6del Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.302+5G>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.466+65C>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.579+3A>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.643+3G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.644-3C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.(76+1_77-1 Single submitter Cardiovascular phenotype
  • c.844-3C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.976-7_976-2dup Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.-19C>T Single submitter
  • c.-39G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.-58G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.-61C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.*117A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.*128A>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.*148C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.*16C>G Single submitter
  • c.*19C>G Single submitter
  • c.*20T>C Single submitter
  • c.*276T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.*308C>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.*419C>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.*461G>T Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.*4G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.*4G>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.*528G>A Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.*61T>C Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • c.*721T>G Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ala120Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala161Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala161Thr Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Ala213Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala22Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala366Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala386Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala405Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala421Ser Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Ala424Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala424Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala482Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala544Gly Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala57Thr Single submitter ⚠
  • p.Ala57Val Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Ala640Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala691Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala691Val Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Ala72Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala72Val Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Ala8Thr Single submitter ⚠
  • p.Arg121Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg137Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg150Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg193Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg193Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg275Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg2Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg319Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg319Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg370Gln Single submitter ⚠
  • p.Arg373His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg394Trp Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg410Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg430His Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg43Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg43His Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg499Gln Single submitter ⚠
  • p.Arg512Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg634= Single submitter
  • p.Arg644His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg670Gln Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg681Trp Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Arg690Ter Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Arg703Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg718His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg718Pro Single submitter ⚠
  • p.Arg79Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg79Trp Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Asn209Asp Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Asn230Thr Single submitter ⚠
  • p.Asn27Ser Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Asn363Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn402Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn417Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn453Asp Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Asn52Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn583Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn584Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn584Lys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn587Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn665Ser Single submitter ⚠
  • p.Asn686Lys Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • p.Asp147Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp177Asn Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Asp21Glu Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Asp21Gly Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Asp234Asn Single submitter ⚠
  • p.Asp234His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp26Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp282Asn Single submitter ⚠
  • p.Asp282Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp367Tyr Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Asp382Ala Single submitter Ehlers-Danlos syndrome, kyphoscoliotic type 1 ⚠
  • p.Asp480Asn Single submitter ⚠