Sugi Variant

Sugi Variant/SLC2A10

SLC2A10 — 715 ClinVar variants

All ClinVar germline SLC2A10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 316 flagged for review →

22 Pathogenic · 14 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 57 Conflicting · 32 Benign · 19 Benign/Likely benign · 220 Likely benign · 337 Uncertain significance

Full SLC2A10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 316

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 34

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

Predictors lean, ClinVar uncertain 237

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 237

Predictors split 45

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

All SLC2A10 variants

Pathogenic 22

  • p.Ala158fs Multiple submitters arterial tortuosity syndrome
  • p.Arg229Ter Multiple submitters Cardiovascular phenotype
  • p.Arg231Gln Multiple submitters Cardiovascular phenotype
  • p.Gly445fs Multiple submitters SLC2A10-related disorder
  • p.Leu244fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys252Ter Single submitter arterial tortuosity syndrome
  • p.Cys304Trp Single submitter arterial tortuosity syndrome
  • p.His377fs Single submitter arterial tortuosity syndrome
  • p.Leu353fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu475Ter Single submitter arterial tortuosity syndrome
  • p.Leu8fs Single submitter arterial tortuosity syndrome
  • p.Phe427fs Single submitter
  • p.Ser115_Ala278delinsPro Single submitter arterial tortuosity syndrome
  • p.Ser268fs Single submitter arterial tortuosity syndrome
  • p.Ser4fs Single submitter arterial tortuosity syndrome
  • p.Ser97fs Single submitter arterial tortuosity syndrome
  • p.Trp100fs Single submitter arterial tortuosity syndrome
  • p.Trp162Ter Single submitter arterial tortuosity syndrome
  • p.Trp170Ter Single submitter arterial tortuosity syndrome
  • p.Tyr151Ter Single submitter arterial tortuosity syndrome
  • p.Tyr482Ter Single submitter arterial tortuosity syndrome
  • p.Val321fs No assertion criteria arterial tortuosity syndrome

Pathogenic/Likely pathogenic 14

  • c.1411+2T>A Multiple submitters arterial tortuosity syndrome
  • p.Ala254fs Multiple submitters arterial tortuosity syndrome
  • p.Arg105Cys Multiple submitters Familial aortopathy
  • p.Arg132Trp Multiple submitters SLC2A10-related disorder
  • p.Arg231Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg444Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu437Lys Multiple submitters Thoracic aortic aneurysm or dissection
  • p.Gly426Trp Multiple submitters Paediatric disorders
  • p.Leu300Trp Multiple submitters Familial aortopathy
  • p.Met1Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser81Arg Multiple submitters Familial aortopathy
  • p.Trp162fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr139Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr216Ter Multiple submitters arterial tortuosity syndrome

Likely pathogenic 14

  • p.Gln243Lys Multiple submitters arterial tortuosity syndrome
  • c.1289-2A>G Single submitter arterial tortuosity syndrome
  • c.4+5G>A Single submitter arterial tortuosity syndrome
  • c.5-2A>G Single submitter arterial tortuosity syndrome
  • p.Arg132Leu Single submitter arterial tortuosity syndrome
  • p.Arg132Pro Single submitter
  • p.Arg213fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly23Asp Single submitter arterial tortuosity syndrome
  • p.Gly23Val Single submitter arterial tortuosity syndrome
  • p.Gly445Glu Single submitter arterial tortuosity syndrome
  • p.Leu20fs Single submitter arterial tortuosity syndrome
  • p.Leu63fs Single submitter arterial tortuosity syndrome
  • p.Ser465fs Single submitter arterial tortuosity syndrome
  • p.Trp100Ter Single submitter SLC2A10-related disorder

Conflicting classifications of pathogenicity 57

  • c.1288+2T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1412-3C>T Single submitter arterial tortuosity syndrome
  • c.5-18C>T Single submitter arterial tortuosity syndrome
  • c.-15C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.-22A>G Single submitter arterial tortuosity syndrome
  • c.*7C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.*8G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala106Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala106Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala272= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala283Asp Single submitter SLC2A10-related disorder ⚠
  • p.Ala402Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala457Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg105His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg132Gln Single submitter Familial aortopathy ⚠
  • p.Arg215Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg388Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg403Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg524Lys Single submitter SLC2A10-related disorder ⚠
  • p.Asn249Ser Single submitter arterial tortuosity syndrome ⚠
  • p.Asn360Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp226Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp292Glu Single submitter arterial tortuosity syndrome
  • p.Asp344= Single submitter arterial tortuosity syndrome
  • p.Glu365Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly204Ser Single submitter Cardiovascular phenotype ⚠
  • p.Gly23Ser Single submitter arterial tortuosity syndrome ⚠
  • p.Gly246Arg Single submitter arterial tortuosity syndrome ⚠
  • p.Gly266Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly337Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly489Arg Single submitter arterial tortuosity syndrome ⚠
  • p.Ile535= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu209= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu353Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu488= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu85Pro Single submitter Familial aortopathy ⚠
  • p.Met1Val Single submitter arterial tortuosity syndrome
  • p.Phe110= Single submitter arterial tortuosity syndrome
  • p.Phe168Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro200Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro211Leu Single submitter arterial tortuosity syndrome ⚠
  • p.Pro366Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro396Leu Single submitter arterial tortuosity syndrome ⚠
  • p.Ser255= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser260= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ser504= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr172Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr472Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr485Ala Single submitter arterial tortuosity syndrome ⚠
  • p.Tyr532= Single submitter arterial tortuosity syndrome
  • p.Val108Ile Single submitter arterial tortuosity syndrome ⚠
  • p.Val261Ile Single submitter SLC2A10-related disorder ⚠
  • p.Val270= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val270Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val311Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val321Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val51= Single submitter arterial tortuosity syndrome

Benign 32

Benign/Likely benign 19

  • c.1288+10G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1289-6C>T Multiple submitters arterial tortuosity syndrome
  • c.1548-19C>T Multiple submitters arterial tortuosity syndrome
  • c.*280C>T Multiple submitters arterial tortuosity syndrome
  • c.*32T>C Multiple submitters arterial tortuosity syndrome
  • p.Ala106Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala206Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala539= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg225His Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg516= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly210= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly404= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile537Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu79= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro531= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser520Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr336= Multiple submitters arterial tortuosity syndrome
  • p.Thr518Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr122= Multiple submitters familial thoracic aortic aneurysm and aortic dissection

Likely benign 220

  • c.1411+23C>T Multiple submitters
  • c.1412-13C>T Multiple submitters arterial tortuosity syndrome
  • c.1547+153T>G Multiple submitters
  • c.1547+17dup Multiple submitters arterial tortuosity syndrome
  • c.1547+19G>A Multiple submitters arterial tortuosity syndrome
  • c.1547+255G>A Multiple submitters
  • c.4+9C>G Multiple submitters arterial tortuosity syndrome
  • c.-273C>T Multiple submitters
  • c.-321C>A Multiple submitters
  • c.*29C>G Multiple submitters arterial tortuosity syndrome
  • p.Ala269= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala287= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala305= Multiple submitters arterial tortuosity syndrome
  • p.Ala308= Multiple submitters arterial tortuosity syndrome
  • p.Ala320= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala412Thr Multiple submitters arterial tortuosity syndrome
  • p.Ala457= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala506= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala61= Multiple submitters arterial tortuosity syndrome
  • p.Ala99= Multiple submitters arterial tortuosity syndrome
  • p.Arg105= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg215= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg225= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn227= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn249= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn459= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu48= Multiple submitters arterial tortuosity syndrome
  • p.Glu499= Multiple submitters arterial tortuosity syndrome
  • p.Gly203= Multiple submitters arterial tortuosity syndrome
  • p.Gly277= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly346Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly397= Multiple submitters arterial tortuosity syndrome
  • p.Gly65= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly88= Multiple submitters arterial tortuosity syndrome
  • p.His264= Multiple submitters arterial tortuosity syndrome
  • p.His3= Multiple submitters arterial tortuosity syndrome
  • p.Leu101= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu240= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu306= Multiple submitters arterial tortuosity syndrome
  • p.Leu316= Multiple submitters arterial tortuosity syndrome
  • p.Leu433= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu435= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu481= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu505= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu54= Multiple submitters arterial tortuosity syndrome
  • p.Leu56= Multiple submitters arterial tortuosity syndrome
  • p.Leu60= Multiple submitters arterial tortuosity syndrome
  • p.Leu63= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu86= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu98= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe168= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe222= Multiple submitters arterial tortuosity syndrome
  • p.Phe40= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe423= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe448= Multiple submitters arterial tortuosity syndrome
  • p.Phe479= Multiple submitters arterial tortuosity syndrome
  • p.Phe512= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro211= Multiple submitters arterial tortuosity syndrome
  • p.Ser310= Multiple submitters arterial tortuosity syndrome
  • p.Ser4= Multiple submitters arterial tortuosity syndrome
  • p.Ser520= Multiple submitters arterial tortuosity syndrome
  • p.Ser62= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr144= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr194Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr233= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr286= Multiple submitters arterial tortuosity syndrome
  • p.Thr370= Multiple submitters arterial tortuosity syndrome
  • p.Thr411= Multiple submitters arterial tortuosity syndrome
  • p.Thr485= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr91= Multiple submitters arterial tortuosity syndrome
  • p.Tyr482= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val102= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val291= Multiple submitters arterial tortuosity syndrome
  • p.Val84= Multiple submitters arterial tortuosity syndrome
  • c.1288+19C>T Single submitter arterial tortuosity syndrome
  • c.1288+20A>G Single submitter arterial tortuosity syndrome
  • c.1288+9A>C Single submitter arterial tortuosity syndrome
  • c.1289-10C>T Single submitter arterial tortuosity syndrome
  • c.1289-16T>C Single submitter arterial tortuosity syndrome
  • c.1289-18C>G Single submitter arterial tortuosity syndrome
  • c.1411+12C>T Single submitter arterial tortuosity syndrome
  • c.1411+16A>G Single submitter arterial tortuosity syndrome
  • c.1412-14C>T Single submitter arterial tortuosity syndrome
  • c.1412-17C>G Single submitter arterial tortuosity syndrome
  • c.1547+14del Single submitter arterial tortuosity syndrome
  • c.1547+152T>G Single submitter
  • c.1547+156T>G Single submitter
  • c.1547+16G>A Single submitter arterial tortuosity syndrome
  • c.1547+16G>C Single submitter arterial tortuosity syndrome
  • c.1547+16G>T Single submitter arterial tortuosity syndrome
  • c.1547+18del Single submitter
  • c.1548-10T>C Single submitter arterial tortuosity syndrome
  • c.1548-61C>G Single submitter
  • c.1548-9G>C Single submitter arterial tortuosity syndrome
  • c.4+10G>A Single submitter arterial tortuosity syndrome
  • c.4+14G>C Single submitter arterial tortuosity syndrome
  • c.4+14G>T Single submitter arterial tortuosity syndrome
  • c.4+17C>A Single submitter arterial tortuosity syndrome
  • c.4+228C>T Single submitter
  • c.5-116A>G Single submitter
  • c.5-121dup Single submitter
  • c.5-135_5-131del Single submitter
  • c.5-13T>C Single submitter arterial tortuosity syndrome
  • c.5-163_5-162insCGGATGGA Single submitter
  • c.5-7T>G Single submitter arterial tortuosity syndrome
  • c.5-8T>G Single submitter arterial tortuosity syndrome
  • c.5-9_5-6del Single submitter arterial tortuosity syndrome
  • c.5-9_5-7del Single submitter arterial tortuosity syndrome
  • c.-10C>G Single submitter
  • c.-26dup Single submitter
  • c.*1141G>A Single submitter arterial tortuosity syndrome
  • c.*1272G>C Single submitter arterial tortuosity syndrome
  • c.*1340G>A Single submitter arterial tortuosity syndrome
  • c.*1449T>C Single submitter arterial tortuosity syndrome
  • c.*194G>T Single submitter arterial tortuosity syndrome
  • c.*2150C>A Single submitter arterial tortuosity syndrome
  • c.*269del Single submitter
  • c.*410A>C Single submitter arterial tortuosity syndrome
  • p.Ala111= Single submitter arterial tortuosity syndrome
  • p.Ala118= Single submitter arterial tortuosity syndrome
  • p.Ala173= Single submitter
  • p.Ala193= Single submitter arterial tortuosity syndrome
  • p.Ala294Val Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala371= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala371Val Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala402= Single submitter
  • p.Ala486= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala77= Single submitter arterial tortuosity syndrome
  • p.Ala95= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg213= Single submitter arterial tortuosity syndrome
  • p.Arg364Gly Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg403= Single submitter arterial tortuosity syndrome
  • p.Arg446= Single submitter arterial tortuosity syndrome
  • p.Asn82= Single submitter arterial tortuosity syndrome
  • p.Cys415= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys71= Single submitter arterial tortuosity syndrome
  • p.Gln247= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln47= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu205= Single submitter arterial tortuosity syndrome
  • p.Glu442= Single submitter arterial tortuosity syndrome
  • p.Gly18= Single submitter arterial tortuosity syndrome
  • p.Gly19= Single submitter
  • p.Gly212Ala Single submitter
  • p.Gly265Ala Single submitter
  • p.Gly295= Single submitter arterial tortuosity syndrome
  • p.Gly313= Single submitter
  • p.Gly522= Single submitter arterial tortuosity syndrome
  • p.Gly73= Single submitter arterial tortuosity syndrome
  • p.His195= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.His405Gln Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile121= Single submitter arterial tortuosity syndrome
  • p.Ile147= Single submitter arterial tortuosity syndrome
  • p.Ile199= Single submitter arterial tortuosity syndrome
  • p.Ile356Thr Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile367Val Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile473= Single submitter arterial tortuosity syndrome
  • p.Ile537= Single submitter arterial tortuosity syndrome
  • p.Leu10= Single submitter arterial tortuosity syndrome
  • p.Leu103= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu149= Single submitter arterial tortuosity syndrome
  • p.Leu16= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu17= Single submitter arterial tortuosity syndrome
  • p.Leu177= Single submitter
  • p.Leu182= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu20= Single submitter arterial tortuosity syndrome
  • p.Leu201= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu221= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu238= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu299= Single submitter arterial tortuosity syndrome
  • p.Leu300= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu301= Single submitter arterial tortuosity syndrome
  • p.Leu341= Single submitter arterial tortuosity syndrome
  • p.Leu38= Single submitter arterial tortuosity syndrome
  • p.Leu389= Single submitter arterial tortuosity syndrome
  • p.Leu38Phe Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu395= Single submitter arterial tortuosity syndrome
  • p.Leu407= Single submitter arterial tortuosity syndrome
  • p.Leu413= Single submitter arterial tortuosity syndrome
  • p.Leu416= Single submitter arterial tortuosity syndrome
  • p.Leu464= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu467= Single submitter arterial tortuosity syndrome
  • p.Leu480= Single submitter arterial tortuosity syndrome
  • p.Leu68= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys196Met Single submitter
  • p.Lys208= Single submitter
  • p.Lys514= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Phe258= Single submitter arterial tortuosity syndrome
  • p.Phe319= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Phe454= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Phe517= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro200= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro207= Single submitter arterial tortuosity syndrome
  • p.Pro214Leu Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro322= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro378= Single submitter arterial tortuosity syndrome
  • p.Pro401= Single submitter arterial tortuosity syndrome
  • p.Pro440= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro531Leu Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro6= Single submitter arterial tortuosity syndrome
  • p.Ser115= Single submitter arterial tortuosity syndrome
  • p.Ser137= Single submitter arterial tortuosity syndrome
  • p.Ser267= Single submitter arterial tortuosity syndrome
  • p.Ser325= Single submitter arterial tortuosity syndrome
  • p.Ser89= Single submitter arterial tortuosity syndrome
  • p.Ser97= Single submitter arterial tortuosity syndrome
  • p.Thr172= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr232= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr518= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr494= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val108= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val123= Single submitter
  • p.Val145= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val176Leu Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val321= Single submitter arterial tortuosity syndrome
  • p.Val332= Single submitter arterial tortuosity syndrome
  • p.Val420= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val487= Single submitter
  • p.Val497= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val64= Single submitter arterial tortuosity syndrome
  • p.Ser318= No assertion criteria SLC2A10-related disorder

Uncertain significance 337

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

  • c.*389C>G Multiple submitters arterial tortuosity syndrome
  • p.Ala152Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala224Gly Multiple submitters arterial tortuosity syndrome ⚠
  • p.Ala272Val Multiple submitters ⚠
  • p.Ala287Thr Multiple submitters arterial tortuosity syndrome ⚠
  • p.Ala308Val Multiple submitters arterial tortuosity syndrome ⚠
  • p.Ala390Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala486Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala486Thr Multiple submitters arterial tortuosity syndrome ⚠
  • p.Ala539Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala58Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala87Thr Multiple submitters arterial tortuosity syndrome ⚠
  • p.Ala87Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg130Gln Multiple submitters arterial tortuosity syndrome ⚠
  • p.Arg130Trp Multiple submitters arterial tortuosity syndrome ⚠
  • p.Arg215Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg225Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg293Cys Multiple submitters arterial tortuosity syndrome ⚠
  • p.Arg293His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg296Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg296His Multiple submitters arterial tortuosity syndrome ⚠
  • p.Arg297Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg388Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg409Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg409Gly Multiple submitters arterial tortuosity syndrome ⚠
  • p.Arg516Pro Multiple submitters arterial tortuosity syndrome ⚠
  • p.Arg534Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg534His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn154Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn227Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn334Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn455Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn459Asp Multiple submitters arterial tortuosity syndrome ⚠
  • p.Asp39Asn Multiple submitters arterial tortuosity syndrome ⚠
  • p.Asp468Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp468Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys451Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys71Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln338His Multiple submitters arterial tortuosity syndrome ⚠
  • p.Gln338Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln363Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln37_Gly41delinsArg Multiple submitters arterial tortuosity syndrome
  • p.Glu442Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu442Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu46Gly Multiple submitters arterial tortuosity syndrome ⚠
  • p.Glu48Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu536Lys Multiple submitters arterial tortuosity syndrome ⚠
  • p.Gly159Ala Multiple submitters arterial tortuosity syndrome ⚠
  • p.Gly159Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly169Ser Multiple submitters arterial tortuosity syndrome ⚠
  • p.Gly188Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly266Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly337Arg Multiple submitters arterial tortuosity syndrome ⚠
  • p.Gly445Arg Multiple submitters arterial tortuosity syndrome ⚠
  • p.Gly57Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly80Arg Multiple submitters SLC2A10-related disorder
  • p.Ile470Phe Multiple submitters arterial tortuosity syndrome ⚠
  • p.Ile69Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu148Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu16Ser Multiple submitters arterial tortuosity syndrome ⚠
  • p.Leu201Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu475Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu55Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met167Ile Multiple submitters arterial tortuosity syndrome ⚠
  • p.Met307Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe40Ser Multiple submitters arterial tortuosity syndrome
  • p.Phe425Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe454Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro211Arg Multiple submitters arterial tortuosity syndrome ⚠
  • p.Ser124Leu Multiple submitters ⚠
  • p.Ser310Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser463Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr144Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr284Asn Multiple submitters arterial tortuosity syndrome ⚠
  • p.Trp100Cys Multiple submitters arterial tortuosity syndrome ⚠
  • p.Trp162Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr139Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr155Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr216Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr494Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val123Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val145Met Multiple submitters arterial tortuosity syndrome ⚠
  • p.Val332Ala Multiple submitters arterial tortuosity syndrome ⚠
  • p.Val497Ile Multiple submitters arterial tortuosity syndrome ⚠
  • p.Val51Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val84Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • c.1289-3T>G Single submitter arterial tortuosity syndrome
  • c.1411+4_1411+5del Single submitter
  • c.1411+5G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1548-2A>T Single submitter arterial tortuosity syndrome
  • c.4+6T>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.-2C>T Single submitter
  • c.-3G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.-55G>T Single submitter arterial tortuosity syndrome
  • c.-60G>T Single submitter arterial tortuosity syndrome
  • c.*1000C>T Single submitter arterial tortuosity syndrome
  • c.*1064G>A Single submitter arterial tortuosity syndrome
  • c.*1162C>T Single submitter arterial tortuosity syndrome
  • c.*116C>T Single submitter arterial tortuosity syndrome
  • c.*1230C>T Single submitter arterial tortuosity syndrome
  • c.*1249G>A Single submitter arterial tortuosity syndrome
  • c.*1394G>A Single submitter arterial tortuosity syndrome
  • c.*1502C>T Single submitter arterial tortuosity syndrome
  • c.*1628T>A Single submitter arterial tortuosity syndrome
  • c.*1715G>A Single submitter arterial tortuosity syndrome
  • c.*171C>T Single submitter arterial tortuosity syndrome
  • c.*1731C>T Single submitter arterial tortuosity syndrome
  • c.*1758A>C Single submitter arterial tortuosity syndrome
  • c.*180A>G Single submitter arterial tortuosity syndrome
  • c.*182T>G Single submitter arterial tortuosity syndrome
  • c.*191C>T Single submitter arterial tortuosity syndrome
  • c.*194G>A Single submitter arterial tortuosity syndrome
  • c.*2018C>T Single submitter arterial tortuosity syndrome
  • c.*2098A>G Single submitter arterial tortuosity syndrome
  • c.*2137C>G Single submitter arterial tortuosity syndrome
  • c.*214T>G Single submitter arterial tortuosity syndrome
  • c.*2203C>A Single submitter arterial tortuosity syndrome
  • c.*2316C>T Single submitter arterial tortuosity syndrome
  • c.*2409A>G Single submitter arterial tortuosity syndrome
  • c.*2482T>A Single submitter arterial tortuosity syndrome
  • c.*401C>A Single submitter arterial tortuosity syndrome
  • c.*414G>T Single submitter arterial tortuosity syndrome
  • c.*472dup Single submitter
  • c.*579G>C Single submitter arterial tortuosity syndrome
  • c.*608C>A Single submitter arterial tortuosity syndrome
  • c.*659G>A Single submitter arterial tortuosity syndrome
  • c.*712A>G Single submitter arterial tortuosity syndrome
  • c.*852T>C Single submitter arterial tortuosity syndrome
  • c.*898A>C Single submitter arterial tortuosity syndrome
  • c.*926C>T Single submitter arterial tortuosity syndrome
  • p.Ala111Thr Single submitter arterial tortuosity syndrome ⚠
  • p.Ala118Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala118Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala12Val Single submitter ⚠
  • p.Ala141Thr Single submitter arterial tortuosity syndrome ⚠
  • p.Ala156Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala171Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala173Thr Single submitter arterial tortuosity syndrome ⚠
  • p.Ala187Val Single submitter arterial tortuosity syndrome ⚠
  • p.Ala193Thr Single submitter arterial tortuosity syndrome ⚠
  • p.Ala206Val Single submitter arterial tortuosity syndrome ⚠
  • p.Ala283Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala287Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala298Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala302Gly Single submitter arterial tortuosity syndrome ⚠
  • p.Ala308Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala32Gly Single submitter arterial tortuosity syndrome ⚠
  • p.Ala331Ser Single submitter arterial tortuosity syndrome ⚠
  • p.Ala385Val Single submitter arterial tortuosity syndrome ⚠
  • p.Ala394Gly Single submitter ⚠
  • p.Ala394Ser Single submitter ⚠
  • p.Ala406Glu Single submitter arterial tortuosity syndrome ⚠
  • p.Ala406Thr Single submitter arterial tortuosity syndrome ⚠
  • p.Ala422Gly Single submitter arterial tortuosity syndrome ⚠
  • p.Ala447Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala449Thr Single submitter arterial tortuosity syndrome ⚠
  • p.Ala61Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala61Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala99Val Single submitter arterial tortuosity syndrome ⚠
  • p.Arg225Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg229Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg297Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg388Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg444Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg446Thr Single submitter arterial tortuosity syndrome
  • p.Arg515Lys Single submitter arterial tortuosity syndrome ⚠
  • p.Arg516Gln Single submitter arterial tortuosity syndrome ⚠
  • p.Arg516Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg74Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn334Ile Single submitter ⚠
  • p.Asn334Ser Single submitter arterial tortuosity syndrome ⚠
  • p.Asn360Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn360Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn455Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn459His Single submitter arterial tortuosity syndrome ⚠
  • p.Asn526Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp197Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp197Tyr Single submitter arterial tortuosity syndrome ⚠
  • p.Asp220Tyr Single submitter ⚠
  • p.Asp220Val Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp292Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp350His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp382Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp39His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp70Gly Single submitter arterial tortuosity syndrome ⚠
  • p.Cys119Tyr Single submitter arterial tortuosity syndrome ⚠
  • p.Gln178Arg Single submitter arterial tortuosity syndrome ⚠
  • p.Gln202Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln247Lys Single submitter arterial tortuosity syndrome ⚠
  • p.Gln349Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln510Arg Single submitter ⚠
  • p.Gln511Arg Single submitter arterial tortuosity syndrome ⚠
  • p.Gln511His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln513His Single submitter arterial tortuosity syndrome ⚠
  • p.Gln525fs Single submitter arterial tortuosity syndrome
  • p.Glu191Lys Single submitter ⚠
  • p.Glu205Lys Single submitter arterial tortuosity syndrome ⚠
  • p.Glu437Val Single submitter ⚠
  • p.Glu442Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly104Asp Single submitter arterial tortuosity syndrome ⚠
  • p.Gly109Asp Single submitter ⚠
  • p.Gly109Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly128Glu Single submitter ⚠
  • p.Gly133Arg Single submitter arterial tortuosity syndrome ⚠
  • p.Gly159Val Single submitter ⚠
  • p.Gly169Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly204Asp Single submitter arterial tortuosity syndrome ⚠
  • p.Gly210Cys Single submitter arterial tortuosity syndrome ⚠
  • p.Gly230Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly262Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly266Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly277Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly295Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly2Ala Single submitter arterial tortuosity syndrome ⚠
  • p.Gly2Ser Single submitter arterial tortuosity syndrome ⚠
  • p.Gly303Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly315Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly326Arg Single submitter arterial tortuosity syndrome ⚠
  • p.Gly326Asp Single submitter arterial tortuosity syndrome ⚠
  • p.Gly340Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly343Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly397Val Single submitter arterial tortuosity syndrome ⚠
  • p.Gly404Arg Single submitter ⚠
  • p.Gly471Asp Single submitter arterial tortuosity syndrome ⚠
  • p.Gly474Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly483Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly483Glu Single submitter arterial tortuosity syndrome ⚠
  • p.Gly489Asp Single submitter ⚠
  • p.Gly489Cys Single submitter arterial tortuosity syndrome ⚠
  • p.Gly522Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly529Ala Single submitter arterial tortuosity syndrome ⚠
  • p.Gly529Asp Single submitter arterial tortuosity syndrome ⚠
  • p.Gly65Cys Single submitter arterial tortuosity syndrome ⚠
  • p.Gly65Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly73Asp Single submitter arterial tortuosity syndrome ⚠
  • p.Gly88Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly93Val Single submitter arterial tortuosity syndrome ⚠
  • p.His264Pro Single submitter ⚠
  • p.His377Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His3Pro Single submitter arterial tortuosity syndrome ⚠
  • p.His405Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile199Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile257Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile462Met Single submitter arterial tortuosity syndrome ⚠
  • p.Ile462Val Single submitter arterial tortuosity syndrome ⚠
  • p.Ile493Ser Single submitter arterial tortuosity syndrome ⚠
  • p.Ile530Val Single submitter arterial tortuosity syndrome ⚠
  • p.Ile535Ser Single submitter arterial tortuosity syndrome ⚠
  • p.Ile537Met Single submitter arterial tortuosity syndrome ⚠
  • p.Ile78Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu114Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu126Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu177Pro Single submitter arterial tortuosity syndrome ⚠
  • p.Leu183Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu221Phe Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu238Val Single submitter ⚠
  • p.Leu276Ile Single submitter arterial tortuosity syndrome ⚠
  • p.Leu309Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu316Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu395Phe Single submitter arterial tortuosity syndrome ⚠
  • p.Leu45Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu480Gln Single submitter arterial tortuosity syndrome ⚠
  • p.Leu480Pro Single submitter ⚠
  • p.Leu490Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu505Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu519Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu55Ile Single submitter arterial tortuosity syndrome ⚠
  • p.Leu55Pro Single submitter arterial tortuosity syndrome ⚠
  • p.Lys208Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys373Glu Single submitter arterial tortuosity syndrome ⚠
  • p.Lys75Arg Single submitter arterial tortuosity syndrome ⚠
  • p.Met167Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met228Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe22Cys Single submitter arterial tortuosity syndrome ⚠
  • p.Phe461Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe49Ile Single submitter ⚠
  • p.Phe49Leu Single submitter arterial tortuosity syndrome ⚠
  • p.Phe517Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro174Ala Single submitter arterial tortuosity syndrome ⚠
  • p.Pro186Leu Single submitter arterial tortuosity syndrome ⚠
  • p.Pro200Ser Single submitter ⚠
  • p.Pro207Leu Single submitter ⚠
  • p.Pro322Leu Single submitter arterial tortuosity syndrome ⚠
  • p.Pro322Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro327Thr Single submitter arterial tortuosity syndrome ⚠
  • p.Pro35Leu Single submitter arterial tortuosity syndrome ⚠
  • p.Pro378Ala Single submitter arterial tortuosity syndrome ⚠
  • p.Pro398Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro398Ser Single submitter arterial tortuosity syndrome ⚠
  • p.Pro9Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser115Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser115Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser116Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser124Pro Single submitter arterial tortuosity syndrome ⚠
  • p.Ser217Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser30Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser318Gly Single submitter ⚠
  • p.Ser325Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser345Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser380Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠