Sugi Variant

Sugi Variant/SKI

SKI — 1360 ClinVar variants

All ClinVar germline SKI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 642 flagged for review →

17 Pathogenic · 7 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 97 Conflicting · 23 Benign · 33 Benign/Likely benign · 516 Likely benign · 658 Uncertain significance

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

⚑ Evidence disagreements 642

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 69

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

Predictors lean, ClinVar uncertain 403

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 403

Predictors split 169

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 169

All SKI variants

Pathogenic 17

Pathogenic/Likely pathogenic 7

  • p.Gly116Glu Multiple submitters Shprintzen-Goldberg syndrome
  • p.Gly117Arg Multiple submitters Shprintzen-Goldberg syndrome
  • p.Gly117Ser Multiple submitters Shprintzen-Goldberg syndrome
  • p.Gly34Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser27Arg Multiple submitters SKI-related disorder ⚠
  • p.Thr180Lys Multiple submitters Disproportionate tall stature
  • p.Thr180Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection

Likely pathogenic 9

Conflicting classifications of pathogenicity 97

  • c.1096-8C>G Single submitter Shprintzen-Goldberg syndrome
  • c.1212-8C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1474+1G>A Single submitter Shprintzen-Goldberg syndrome
  • c.1474+4C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1767+11C>T Single submitter Shprintzen-Goldberg syndrome
  • c.970-7A>G Single submitter Shprintzen-Goldberg syndrome
  • p.Ala155Gly Single submitter Cardiovascular phenotype ⚠
  • p.Ala188Thr Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala194Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala204Val Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala266= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala283Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala345Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala388Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala399Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala420Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala422Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala422Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala425Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala437Thr Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala442Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala447Thr Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala469Pro Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala469Val Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala482Val Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala510Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala510Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala540Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala55Pro Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala579Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala57Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala580Val Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala656Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala661Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala67Val Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala686Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala718Gly Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg357Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg380Gln Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg402Gln Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg441Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg519Cys Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg519His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg546Gln Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg546Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg690Gln Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg714His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp533Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys10Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln23Pro Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Glu118Lys Single submitter SKI-related disorder ⚠
  • p.Glu348Lys Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Glu725Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly552Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu300Phe Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Leu400Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu446Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu698= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu76Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys48Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys626Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys638Arg Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Met29Arg Single submitter Shprintzen-Goldberg syndrome
  • p.Pro329Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro329Ser Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Pro35Arg Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Pro423Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro424Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro433Arg Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Pro434Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro443= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro462Ala Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Pro502Leu Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Pro63Leu Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Pro70Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro728Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro81Ala Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Pro81Gln Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ser214Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser353Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser480Leu Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ser494Thr Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ser515Cys Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ser523Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr461Ile Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Thr467Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr505Ile Single submitter Shprintzen-Goldberg syndrome
  • p.Trp710Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val370Ala Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Val471Leu Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Val486Ile Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Val525Ile Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Val571Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val64_Pro65dup Single submitter Shprintzen-Goldberg syndrome
  • p.Val64Met Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Val672Met Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Val73= Single submitter familial thoracic aortic aneurysm and aortic dissection

Benign 23

Benign/Likely benign 33

  • c.1211+10C>T Multiple submitters Shprintzen-Goldberg syndrome
  • c.1211+19C>T Multiple submitters Shprintzen-Goldberg syndrome
  • c.1767+12G>A Multiple submitters Shprintzen-Goldberg syndrome
  • c.970-5C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala388Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala414= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ala437= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala482= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala62Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala630= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Arg152= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg299= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg658= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn418= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp669Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln157= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln671= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Glu617= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His544= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile332Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu267= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu446= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu612= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys316= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro168= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro172= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro433Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro531= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro61= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser135= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser480= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ser509= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser578= Multiple submitters familial thoracic aortic aneurysm and aortic dissection

Likely benign 516

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

  • c.1096-5G>A Multiple submitters Shprintzen-Goldberg syndrome
  • c.1096-6C>T Multiple submitters Shprintzen-Goldberg syndrome
  • c.1211+17C>T Multiple submitters Shprintzen-Goldberg syndrome
  • c.1212-19C>T Multiple submitters Shprintzen-Goldberg syndrome
  • c.1212-6C>T Multiple submitters Shprintzen-Goldberg syndrome
  • c.1474+7del Multiple submitters Shprintzen-Goldberg syndrome
  • c.1474+8T>A Multiple submitters Shprintzen-Goldberg syndrome
  • c.1767+37C>T Multiple submitters
  • c.1767+7G>A Multiple submitters Shprintzen-Goldberg syndrome
  • c.1768-8G>T Multiple submitters Shprintzen-Goldberg syndrome
  • c.1998+63T>C Multiple submitters
  • c.1998+9G>A Multiple submitters Shprintzen-Goldberg syndrome
  • c.1999-11C>T Multiple submitters Shprintzen-Goldberg syndrome
  • c.1999-14C>G Multiple submitters Shprintzen-Goldberg syndrome
  • c.1999-16C>T Multiple submitters
  • c.969+10C>T Multiple submitters Shprintzen-Goldberg syndrome
  • c.969+53C>T Multiple submitters
  • c.970-10T>C Multiple submitters Shprintzen-Goldberg syndrome
  • c.*39G>A Multiple submitters
  • p.Ala205= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala242= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ala3= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala345= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala345Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala360= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala37= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ala399= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala469= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala473= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala510= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala518= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ala518Val Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ala524= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ala529= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala540= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala644= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ala656= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala661= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ala679= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala718= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ala724= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg219= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg282= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Arg302= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Arg41= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Arg570= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg595= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Arg620= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Arg648= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg692= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Asn140= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn280= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn611= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp133= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp156= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Asp181= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp290= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp305= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp306= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Asp512= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp533= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Asp669= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Asp687= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp95= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys150= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys224= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Cys228= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys650= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Gln289= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Gln342Leu Multiple submitters Shprintzen-Goldberg syndrome
  • p.Gln646= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Glu106= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu108= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu475= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu483= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu622= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Glu629= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu69= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Glu704= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu725= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly16= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly165= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Gly175= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly301= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly361Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly551= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly657= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly722Asp Multiple submitters Shprintzen-Goldberg syndrome
  • p.Gly9= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His14= Multiple submitters Shprintzen-Goldberg syndrome
  • p.His25= Multiple submitters Shprintzen-Goldberg syndrome
  • p.His396= Multiple submitters Shprintzen-Goldberg syndrome
  • p.His396Arg Multiple submitters Shprintzen-Goldberg syndrome
  • p.His75= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile110= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile126= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile160= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile166= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu105= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Leu127= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu131= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu146= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu176= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu185= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu211= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu26= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Leu32= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu421= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu637= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Leu641= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Leu684= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Leu709= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu76= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu86= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys310= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Lys335= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Lys48= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys49= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys576= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys599= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Lys609= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Lys626= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Lys703= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Phe276= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe492= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe562= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Phe593= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Pro197= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Pro234= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Pro344= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Pro35= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Pro352= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro384= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Pro398= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro423= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Pro474= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro502= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro516= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Pro63= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro715= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Pro83= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Pro89= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ser151= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser238= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser239= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser263= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ser27= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser325= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ser326= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser353= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser383= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ser394= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser494= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ser495= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ser503= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser507= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ser523= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser536= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser664= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Thr103= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr467= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Thr555= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr606= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr191= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Tyr221= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr254= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Tyr317= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val104= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val163= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val233= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val321= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val439= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Val439Ile Multiple submitters Shprintzen-Goldberg syndrome
  • p.Val672= Multiple submitters Shprintzen-Goldberg syndrome
  • p.Val701= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1095+10G>A Single submitter Shprintzen-Goldberg syndrome
  • c.1095+11G>A Single submitter Shprintzen-Goldberg syndrome
  • c.1095+17C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1095+19G>A Single submitter Shprintzen-Goldberg syndrome
  • c.1095+20G>T Single submitter Shprintzen-Goldberg syndrome
  • c.1096-10T>G Single submitter
  • c.1096-15A>G Single submitter Shprintzen-Goldberg syndrome
  • c.1096-18A>C Single submitter Shprintzen-Goldberg syndrome
  • c.1096-39T>C Single submitter
  • c.1096-4A>G Single submitter Shprintzen-Goldberg syndrome
  • c.1211+173C>T Single submitter
  • c.1211+7G>A Single submitter Shprintzen-Goldberg syndrome
  • c.1211+7G>C Single submitter Shprintzen-Goldberg syndrome
  • c.1211+8G>C Single submitter Shprintzen-Goldberg syndrome
  • c.1211+9dup Single submitter Shprintzen-Goldberg syndrome
  • c.1211+9G>T Single submitter Shprintzen-Goldberg syndrome
  • c.1212-11T>C Single submitter Shprintzen-Goldberg syndrome
  • c.1212-13C>G Single submitter Shprintzen-Goldberg syndrome
  • c.1212-15C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1212-16C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1212-21G>C Single submitter
  • c.1212-4C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1212-7C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1474+14G>A Single submitter Shprintzen-Goldberg syndrome
  • c.1474+19C>G Single submitter Shprintzen-Goldberg syndrome
  • c.1474+4C>A Single submitter
  • c.1475-13G>C Single submitter Shprintzen-Goldberg syndrome
  • c.1475-17C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1475-5C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1767+19G>A Single submitter Shprintzen-Goldberg syndrome
  • c.1767+19G>T Single submitter Shprintzen-Goldberg syndrome
  • c.1767+7G>T Single submitter Shprintzen-Goldberg syndrome
  • c.1767+8G>A Single submitter Shprintzen-Goldberg syndrome
  • c.1767+9G>T Single submitter
  • c.1768-10C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1768-11C>A Single submitter Shprintzen-Goldberg syndrome
  • c.1768-20G>T Single submitter Shprintzen-Goldberg syndrome
  • c.1768-4C>G Single submitter Shprintzen-Goldberg syndrome
  • c.1768-4C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1998+10T>C Single submitter Shprintzen-Goldberg syndrome
  • c.1999-12G>T Single submitter Shprintzen-Goldberg syndrome
  • c.1999-14C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1999-17A>T Single submitter Shprintzen-Goldberg syndrome
  • c.1999-18C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1999-19C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1999-43A>G Single submitter
  • c.1999-70G>T Single submitter
  • c.1999-7C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1999-9C>G Single submitter Shprintzen-Goldberg syndrome
  • c.1999-9C>T Single submitter Shprintzen-Goldberg syndrome
  • c.969+13A>G Single submitter
  • c.969+16C>T Single submitter Shprintzen-Goldberg syndrome
  • c.969+18166C>T Single submitter
  • c.969+18324C>T Single submitter
  • c.969+323C>T Single submitter
  • c.970-11A>G Single submitter Shprintzen-Goldberg syndrome
  • c.970-13dup Single submitter Shprintzen-Goldberg syndrome
  • c.970-19A>G Single submitter Shprintzen-Goldberg syndrome
  • c.970-4G>A Single submitter Shprintzen-Goldberg syndrome
  • c.-11C>G Single submitter
  • c.-19G>A Single submitter
  • c.-26_-21dup Single submitter
  • c.-28G>T Single submitter
  • c.-42G>A Single submitter
  • c.-46C>T Single submitter
  • c.-49G>T Single submitter
  • c.*14C>T Single submitter
  • c.*17_*36del Single submitter
  • c.*17C>A Single submitter
  • c.*17C>T Single submitter
  • c.*4C>T Single submitter
  • c.*9C>A Single submitter
  • p.Ala141= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala141Ser Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala155= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala171= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala182= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala204= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala208= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala243= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala283= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala330= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala36= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala378= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala385= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala385Thr Single submitter Shprintzen-Goldberg syndrome
  • p.Ala388= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala4= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala40= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala416= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala425= Single submitter
  • p.Ala43= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala436= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala438= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala442= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala447= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala46= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala464= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala5= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala52= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala520= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala528Pro Single submitter Shprintzen-Goldberg syndrome
  • p.Ala529Val Single submitter Shprintzen-Goldberg syndrome
  • p.Ala532= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala534= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala534Val Single submitter Shprintzen-Goldberg syndrome
  • p.Ala55= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala579Val Single submitter Shprintzen-Goldberg syndrome
  • p.Ala580= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala59= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala597= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala621= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala66= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala665= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala677= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala686= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala694= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala713= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala713Val Single submitter Shprintzen-Goldberg syndrome
  • p.Ala717= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala718Val Single submitter Shprintzen-Goldberg syndrome
  • p.Ala723= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala724Thr Single submitter Shprintzen-Goldberg syndrome
  • p.Arg100= Single submitter Shprintzen-Goldberg syndrome
  • p.Arg120= Single submitter familial thoracic aortic aneurysm and aortic dissection

Uncertain significance 658

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

  • c.1211+2T>G Multiple submitters Shprintzen-Goldberg syndrome
  • c.1999-3C>T Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ala155Ser Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala171Thr Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala208Pro Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala208Val Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala298Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala3Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala416Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala436Val Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala438Thr Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala464Val Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala46Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala472Val Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala473Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala473Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala482_Glu483del Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ala4Val Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala530del Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ala530Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala548Ser Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala55Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala580Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala58Gly Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala621Thr Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala62Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala665Val Multiple submitters ⚠
  • p.Ala66Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala686Asp Multiple submitters Shprintzen-Goldberg syndrome
  • p.Ala686Gly Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala686Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala723Asp Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala724Val Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ala78Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg216His Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Arg219Cys Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Arg320Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg323Leu Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Arg357Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg373Cys Multiple submitters Isolated thoracic aortic aneurysm ⚠
  • p.Arg373His Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Arg375Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg441Gln Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Arg453Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg455Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg570Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg570His Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg585His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg636Cys Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Arg636His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg645Gln Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Arg648Gly Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Arg695Gln Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Arg712Leu Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Arg714Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn280Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn364Ile Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Asn364Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp305Glu Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Asp680Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp687Glu Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Cys303Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln12His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln708His Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Glu102Lys Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Glu145Asp Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Glu183Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu202Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu309Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu444Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu476Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu483fs Multiple submitters
  • p.Glu50Val Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Glu575del Multiple submitters
  • p.Glu622Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu624Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu655Lys Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Glu707Gly Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Glu725Asp Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Gly107Asp Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Gly16Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly192Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly210Cys Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Gly293Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly301Arg Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Gly551Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly722Val Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.His14Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His676Tyr Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ile148Val Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ile285Val Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ile616Met Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ile79Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu190Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu209Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu213Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu359Ser Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Leu496del Multiple submitters Shprintzen-Goldberg syndrome
  • p.Leu538Arg Multiple submitters Shprintzen-Goldberg syndrome
  • p.Leu581Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu670Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu74Val Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Lys229Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys265Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys335Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys478Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys625Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys626del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Met569Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met569Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe276Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe405Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe492Ser Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro196Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro198Leu Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro256Leu Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro322Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro322Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro328Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro328Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro328Ser Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro334Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro344Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro352Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro352Thr Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro395Ser Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro398Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro398Ser Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro433Leu Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro443Ala Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro462Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro474Ala Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro502Arg Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro516Leu Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro61Leu Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro715Ser Multiple submitters SKI-related disorder ⚠
  • p.Pro728Ala Multiple submitters SKI-related disorder ⚠
  • p.Pro72Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro83Ser Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Pro84dup Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro93Leu Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ser239Asn Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ser278Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser28Phe Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ser30Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser325Phe Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ser354Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser363Thr Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ser366Arg Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ser387Leu Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ser389Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser39Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser407Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser432Gly Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Ser498Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ter729ArgextTer? Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr154Met Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Thr292Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr336Ala Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Thr606Met Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Thr98Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr313Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val104Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val114Met Multiple submitters Shprintzen-Goldberg syndrome
  • p.Val163Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val307Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val370Leu Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Val415Met Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Val419Met Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Val471Met Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Val567Ala Multiple submitters Shprintzen-Goldberg syndrome ⚠
  • p.Val60Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val73Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.1095+4C>T Single submitter
  • c.1095+5T>C Single submitter Shprintzen-Goldberg syndrome
  • c.1095+6G>A Single submitter Shprintzen-Goldberg syndrome
  • c.1096-6C>G Single submitter Shprintzen-Goldberg syndrome
  • c.1096-7T>G Single submitter
  • c.1212-3C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1474+5G>A Single submitter Shprintzen-Goldberg syndrome
  • c.1474+8_1474+9del Single submitter Shprintzen-Goldberg syndrome
  • c.1767+1G>C Single submitter Shprintzen-Goldberg syndrome
  • c.1767+6C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1768-3C>T Single submitter Shprintzen-Goldberg syndrome
  • c.1998+1G>T Single submitter Shprintzen-Goldberg syndrome
  • c.1998+6C>A Single submitter Shprintzen-Goldberg syndrome
  • c.1998+6C>T Single submitter Shprintzen-Goldberg syndrome
  • c.969+2T>A Single submitter
  • c.969+7G>A Single submitter
  • c.970-3C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala141Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala141Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala194Val Single submitter ⚠
  • p.Ala205Thr Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala242Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala243Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala243Thr Single submitter ⚠
  • p.Ala266fs Single submitter
  • p.Ala283Thr Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala298Gly Single submitter ⚠
  • p.Ala345fs Single submitter
  • p.Ala345Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala36Asp Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala36Val Single submitter ⚠
  • p.Ala3Glu Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala3Gly Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala40Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala414Ser Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala436Thr Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala437Pro Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala437Ser Single submitter ⚠
  • p.Ala43Thr Single submitter ⚠
  • p.Ala442Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala46Asp Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala46Ser Single submitter ⚠
  • p.Ala46Thr Single submitter ⚠
  • p.Ala46Val Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala473Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala4Gly Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala4Pro Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala4Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala520Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala528Ser Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala52Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala52Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala52Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala530Pro Single submitter ⚠
  • p.Ala534Thr Single submitter ⚠
  • p.Ala548Thr Single submitter ⚠
  • p.Ala55Val Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala58Val Single submitter ⚠
  • p.Ala59_Val60insAlaAla Single submitter Shprintzen-Goldberg syndrome
  • p.Ala597Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala5dup Single submitter Shprintzen-Goldberg syndrome
  • p.Ala5Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala5Thr Single submitter ⚠
  • p.Ala621Pro Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala630Val Single submitter Shprintzen-Goldberg syndrome
  • p.Ala656delinsValProAlaGlyLysAlaLeuGluGlnLysProGlyProGlyProArgSerValArgAlaProProThr Single submitter Shprintzen-Goldberg syndrome
  • p.Ala665Thr Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala66Pro Single submitter Shprintzen-Goldberg syndrome
  • p.Ala677Thr Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala679Val Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala67Asn Single submitter Shprintzen-Goldberg syndrome
  • p.Ala67Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala67Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala67Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala686Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala694Val Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Ala717_Ter729= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala718_Ter729= Single submitter Shprintzen-Goldberg syndrome
  • p.Ala723Pro Single submitter ⚠
  • p.Ala724_Glu725insGlySerGluGlyAlaAla Single submitter Shprintzen-Goldberg syndrome
  • p.Arg120Cys Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg216Leu Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg216Pro Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg219His Single submitter ⚠
  • p.Arg251His Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg282Gln Single submitter ⚠
  • p.Arg299Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg299Leu Single submitter ⚠
  • p.Arg299Pro Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg319Gly Single submitter Isolated thoracic aortic aneurysm ⚠
  • p.Arg323= Single submitter Shprintzen-Goldberg syndrome
  • p.Arg323Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg323Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg357Gly Single submitter ⚠
  • p.Arg373Gly Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg375His Single submitter ⚠
  • p.Arg380Ter Single submitter neurodevelopmental disorder
  • p.Arg402Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg41Cys Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg441Gly Single submitter ⚠
  • p.Arg453Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg455Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg489Ser Single submitter ⚠
  • p.Arg519Leu Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg546Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg546Leu Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg585Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg595Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg595Leu Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg603Trp Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg610Cys Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg613Trp Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg634Gln Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg639Gln Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg645Leu Single submitter ⚠
  • p.Arg645Pro Single submitter ⚠
  • p.Arg648Gln Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg648Pro Single submitter ⚠
  • p.Arg658_Leu659insGluAlaGlyArg Single submitter
  • p.Arg658Cys Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg658Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg658His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg685Trp Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg690_Glu691insAlaAspLeuLeuArg Single submitter Shprintzen-Goldberg syndrome
  • p.Arg690Trp Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg692Cys Single submitter Shprintzen-Goldberg syndrome ⚠
  • p.Arg695Leu Single submitter Shprintzen-Goldberg syndrome ⚠