GDF2 — 345 ClinVar variants
All ClinVar germline GDF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →
7 Pathogenic · 4 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 31 Conflicting · 6 Benign · 10 Benign/Likely benign · 176 Likely benign · 108 Uncertain significance
Full GDF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 108
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.
-
GDF2 p.Arg68Leu
Likely pathogenic
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
Predictors agree, ClinVar conflicts 19
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GDF2 p.Ala105Val
Conflicting
Single submitter
Cardiovascular phenotype
-
GDF2 p.Ala321Thr
Conflicting
Single submitter
Cardiovascular phenotype
-
GDF2 p.Arg216Trp
Conflicting
Single submitter
Cardiovascular phenotype
-
GDF2 p.Arg30Gln
Conflicting
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Asp238Asn
Conflicting
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Asp367Glu
Conflicting
Single submitter
Cardiovascular phenotype
-
GDF2 p.Gly291Ser
Conflicting
Single submitter
Cardiovascular phenotype
-
GDF2 p.Gly306Asp
Conflicting
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Gly322Arg
Conflicting
Single submitter
Cardiovascular phenotype
-
GDF2 p.Gly74Glu
Conflicting
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ile120Val
Conflicting
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Leu41Val
Conflicting
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Phe362Leu
Conflicting
Single submitter
Cardiovascular phenotype
-
GDF2 p.Pro162Thr
Conflicting
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ser113Asn
Conflicting
Single submitter
Cardiovascular phenotype
-
GDF2 p.Thr239Met
Conflicting
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Tyr351His
Conflicting
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Val283Met
Conflicting
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Val403Ile
Conflicting
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
Predictors lean, ClinVar uncertain 76
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GDF2 p.Ala105Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
GDF2 p.Arg30Pro
Uncertain significance
Multiple submitters
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Arg317Gln
Uncertain significance
Multiple submitters
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Arg333Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
GDF2 p.Cys356Tyr
Uncertain significance
Multiple submitters
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Glu267Asp
Uncertain significance
Multiple submitters
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Glu297Lys
Uncertain significance
Multiple submitters
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Gly22Arg
Uncertain significance
Multiple submitters
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Gly247Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
GDF2 p.Gly359Ser
Uncertain significance
Multiple submitters
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Leu152His
Uncertain significance
Multiple submitters
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Pro348Thr
Uncertain significance
Multiple submitters
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ala105Glu
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
- GDF2 p.Ala105Thr Uncertain significance Single submitter
-
GDF2 p.Ala181Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Ala185Asp
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ala323Thr
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ala323Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Ala33Thr
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ala347Val
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ala374Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Ala37Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
- GDF2 p.Arg216Gln Uncertain significance Single submitter
-
GDF2 p.Arg234Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Arg269Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Arg68His
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Asp177Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Asp366Tyr
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
- GDF2 p.Cys426Arg Uncertain significance Single submitter
-
GDF2 p.Cys426Ser
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Gln21Lys
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
- GDF2 p.Gln78Arg Uncertain significance Single submitter
- GDF2 p.Glu355Gln Uncertain significance Single submitter
- GDF2 p.Glu60Asp Uncertain significance Single submitter
-
GDF2 p.Glu84Val
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Gly18Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Gly247Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
- GDF2 p.Gly427Glu Uncertain significance Single submitter
-
GDF2 p.Gly427Val
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Gly42Trp
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Gly45Glu
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Gly4Arg
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ile132Thr
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ile139Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Ile145Asn
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ile172Val
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Leu12Val
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Met409Ile
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
- GDF2 p.Met421Thr Uncertain significance Single submitter
-
GDF2 p.Phe66Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Pro245Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Pro348Ser
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Pro395Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Pro49Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Ser14Cys
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ser14Phe
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ser155Phe
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ser184Asn
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ser184Gly
Uncertain significance
Single submitter
GDF2-related disorder
-
GDF2 p.Ser243Asn
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
- GDF2 p.Ser262Asn Uncertain significance Single submitter
-
GDF2 p.Ser277Asn
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
- GDF2 p.Ser292Phe Uncertain significance Single submitter
-
GDF2 p.Ser298Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Thr103Arg
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Thr103Met
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Thr313Ala
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Thr313Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Thr97Arg
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Thr97Met
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Trp341Cys
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Tyr93Cys
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Val154Ala
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Val170Met
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Val75Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
- GDF2 p.Ala148Gly Uncertain significance No assertion criteria
Predictors split 12
The independent predictors disagree with each other — read with care.
-
GDF2 p.Arg213Cys
Uncertain significance
Multiple submitters
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Arg213Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
GDF2 p.Arg317Trp
Conflicting
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Arg333Trp
Conflicting
Single submitter
Cardiovascular phenotype
-
GDF2 p.Gly420Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
- GDF2 p.Phe112Leu Uncertain significance Single submitter
-
GDF2 p.Phe361Cys
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Pro85Leu
Conflicting
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Ser111Gly
Likely benign
Single submitter
Cardiovascular phenotype
-
GDF2 p.Tyr153Cys
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Val211Met
Uncertain significance
Single submitter
telangiectasia, hereditary hemorrhagic, type 5
-
GDF2 p.Val376Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
All GDF2 variants
Pathogenic 7
- p.Gln26Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Gln21Ter Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Glu60Ter Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Leu251fs Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Leu414fs Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Ser73fs Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Thr396fs Single submitter telangiectasia, hereditary hemorrhagic, type 5
Pathogenic/Likely pathogenic 4
- p.Glu355Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Leu287fs Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Trp214Ter Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Val423Met Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
Likely pathogenic 3
- p.Arg110Gln Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Arg68Leu Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Cys428Arg Single submitter telangiectasia, hereditary hemorrhagic, type 5
Conflicting classifications of pathogenicity 31
- p.Ala105Val Single submitter Cardiovascular phenotype ⚠
- p.Ala321Thr Single submitter Cardiovascular phenotype ⚠
- p.Arg151Ter Single submitter Cardiovascular phenotype
- p.Arg216Trp Single submitter Cardiovascular phenotype ⚠
- p.Arg30Gln Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Arg30Ter Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Arg317Trp Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Arg333Trp Single submitter Cardiovascular phenotype ⚠
- p.Asp238Asn Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Asp367Glu Single submitter Cardiovascular phenotype ⚠
- p.Glu84= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Gly291Ser Single submitter Cardiovascular phenotype ⚠
- p.Gly306Asp Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Gly322Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly427= Single submitter Cardiovascular phenotype
- p.Gly74Glu Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ile120Val Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Leu379fs Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Leu41Val Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Lys415Ter Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Met275fs Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Phe362Leu Single submitter Cardiovascular phenotype ⚠
- p.Pro162Thr Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Pro85Leu Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ser113Asn Single submitter Cardiovascular phenotype ⚠
- p.Ter430= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Thr239Met Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Tyr351His Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Val283Met Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Val380Ala Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Val403Ile Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
Benign 6
- c.346+10C>T Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- c.346+74G>A Multiple submitters
- c.346+90G>A Multiple submitters
- c.347-28A>G Multiple submitters
- c.347-49T>C Multiple submitters
- c.346+18A>G Single submitter telangiectasia, hereditary hemorrhagic, type 5
Benign/Likely benign 10
- p.Asn250Lys Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Asn259Ser Multiple submitters Cardiovascular phenotype
- p.Asp218Asn Multiple submitters Cardiovascular phenotype
- p.Glu301Lys Multiple submitters Cardiovascular phenotype
- p.Ile118Phe Multiple submitters Cardiovascular phenotype
- p.Ile339= Multiple submitters Cardiovascular phenotype
- p.Leu205= Multiple submitters Cardiovascular phenotype
- p.Leu25= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Phe126Leu Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Thr304Met Multiple submitters Cardiovascular phenotype
Likely benign 176
- c.*305G>A Multiple submitters
- p.Ala105= Multiple submitters Cardiovascular phenotype
- p.Ala210= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Ala310= Multiple submitters Cardiovascular phenotype
- p.Ala365= Multiple submitters Cardiovascular phenotype
- p.Arg319= Multiple submitters Cardiovascular phenotype
- p.Arg333= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Asn36= Multiple submitters Cardiovascular phenotype
- p.Asp218= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Asp238= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Asp290= Multiple submitters Cardiovascular phenotype
- p.Asp366= Multiple submitters Cardiovascular phenotype
- p.Asp367= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Cys237= Multiple submitters Cardiovascular phenotype
- p.Cys356= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Gln328= Multiple submitters Cardiovascular phenotype
- p.Glu294= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Glu301= Multiple submitters Cardiovascular phenotype
- p.Gly201= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Gly247Ala Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Gly264= Multiple submitters Cardiovascular phenotype
- p.Gly311= Multiple submitters Cardiovascular phenotype
- p.Gly358= Multiple submitters Cardiovascular phenotype
- p.Gly410= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Gly42= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.His159= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.His164= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.His261= Multiple submitters Cardiovascular phenotype
- p.His300= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.His307= Multiple submitters Cardiovascular phenotype
- p.His373= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Ile375= Multiple submitters Cardiovascular phenotype
- p.Leu226= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Leu270= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Leu272= Multiple submitters Cardiovascular phenotype
- p.Leu284= Multiple submitters Cardiovascular phenotype
- p.Leu287= Multiple submitters Cardiovascular phenotype
- p.Lys225= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Lys23= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Phe112= Multiple submitters Cardiovascular phenotype
- p.Phe336= Multiple submitters Cardiovascular phenotype
- p.Phe384= Multiple submitters Cardiovascular phenotype
- p.Pro370= Multiple submitters Cardiovascular phenotype
- p.Pro385= Multiple submitters Cardiovascular phenotype
- p.Pro40= Multiple submitters Cardiovascular phenotype
- p.Pro44= Multiple submitters Cardiovascular phenotype
- p.Pro86= Multiple submitters Cardiovascular phenotype
- p.Ser101= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Ser14_Leu16dup Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Ser169= Multiple submitters Cardiovascular phenotype
- p.Ser209= Multiple submitters Cardiovascular phenotype
- p.Ser217= Multiple submitters Cardiovascular phenotype
- p.Ser243= Multiple submitters Cardiovascular phenotype
- p.Ser258= Multiple submitters Cardiovascular phenotype
- p.Ser288= Multiple submitters Cardiovascular phenotype
- p.Ser312= Multiple submitters Cardiovascular phenotype
- p.Ser320= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Ser422= Multiple submitters Cardiovascular phenotype
- p.Ser77= Multiple submitters Cardiovascular phenotype
- p.Ser98= Multiple submitters Cardiovascular phenotype
- p.Thr103= Multiple submitters Cardiovascular phenotype
- p.Thr229= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Thr239= Multiple submitters Cardiovascular phenotype
- p.Thr369= Multiple submitters Cardiovascular phenotype
- p.Thr97= Multiple submitters Cardiovascular phenotype
- p.Tyr418= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Tyr88= Multiple submitters Cardiovascular phenotype
- p.Val109Ala Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Val171= Multiple submitters Cardiovascular phenotype
- p.Val244= Multiple submitters Cardiovascular phenotype
- p.Val368= Multiple submitters Cardiovascular phenotype
- p.Val43= Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- c.346+11C>T Single submitter telangiectasia, hereditary hemorrhagic, type 5
- c.346+12G>T Single submitter telangiectasia, hereditary hemorrhagic, type 5
- c.346+17C>A Single submitter telangiectasia, hereditary hemorrhagic, type 5
- c.346+19C>A Single submitter telangiectasia, hereditary hemorrhagic, type 5
- c.346+20C>T Single submitter telangiectasia, hereditary hemorrhagic, type 5
- c.347-17G>A Single submitter telangiectasia, hereditary hemorrhagic, type 5
- c.347-18C>T Single submitter telangiectasia, hereditary hemorrhagic, type 5
- c.-12C>T Single submitter
- c.*18G>C Single submitter
- c.*216G>T Single submitter
- p.Ala122= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Ala148= Single submitter Cardiovascular phenotype
- p.Ala181= Single submitter Cardiovascular phenotype
- p.Ala309Val Single submitter Cardiovascular phenotype
- p.Ala315= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Ala321= Single submitter Cardiovascular phenotype
- p.Ala374= Single submitter Cardiovascular phenotype
- p.Arg151= Single submitter Cardiovascular phenotype
- p.Arg151Gln Single submitter Cardiovascular phenotype
- p.Arg213= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Arg82Gly Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Arg95= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Asn250= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Asn335= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Asn36Asp Single submitter Cardiovascular phenotype
- p.Asp180= Single submitter Cardiovascular phenotype
- p.Asp303= Single submitter Cardiovascular phenotype
- p.Asp91= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Gln198= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Gln377= Single submitter Cardiovascular phenotype
- p.Gln78= Single submitter Cardiovascular phenotype
- p.Glu124= Single submitter Cardiovascular phenotype
- p.Glu149= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Glu274= Single submitter Cardiovascular phenotype
- p.Glu279= Single submitter Cardiovascular phenotype
- p.Glu302= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Glu419= Single submitter Cardiovascular phenotype
- p.Gly236= Single submitter Cardiovascular phenotype
- p.Gly31= Single submitter Cardiovascular phenotype
- p.Gly420= Single submitter Cardiovascular phenotype
- p.Gly45= Single submitter Cardiovascular phenotype
- p.His278= Single submitter Cardiovascular phenotype
- p.His417= Single submitter Cardiovascular phenotype
- p.His51= Single submitter Cardiovascular phenotype
- p.Ile108= Single submitter Cardiovascular phenotype
- p.Ile137= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Ile139= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Leu12= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Leu13= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Leu15= Single submitter Cardiovascular phenotype
- p.Leu150= Single submitter Cardiovascular phenotype
- p.Leu332= Single submitter Cardiovascular phenotype
- p.Leu364= Single submitter Cardiovascular phenotype
- p.Leu382= Single submitter Cardiovascular phenotype
- p.Leu59= Single submitter Cardiovascular phenotype
- p.Leu6= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Lys221= Single submitter Cardiovascular phenotype
- p.Lys235= Single submitter Cardiovascular phenotype
- p.Lys23Asn Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Lys286= Single submitter Cardiovascular phenotype
- p.Lys329= Single submitter Cardiovascular phenotype
- p.Lys397Arg Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Lys406= Single submitter Cardiovascular phenotype
- p.Met114Val Single submitter Cardiovascular phenotype
- p.Phe191= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Phe253= Single submitter Cardiovascular phenotype
- p.Phe53= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Phe66= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Pro127= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Pro162= Single submitter Cardiovascular phenotype
- p.Pro24= Single submitter Cardiovascular phenotype
- p.Pro245= Single submitter Cardiovascular phenotype
- p.Pro246= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Pro348= Single submitter Cardiovascular phenotype
- p.Pro395= Single submitter Cardiovascular phenotype
- p.Pro412= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Pro85= Single submitter Cardiovascular phenotype
- p.Ser111Gly Single submitter Cardiovascular phenotype ⚠
- p.Ser163= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Ser219= Single submitter Cardiovascular phenotype
- p.Ser243Gly Single submitter Cardiovascular phenotype
- p.Ser282= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Ser298= Single submitter Cardiovascular phenotype
- p.Ser343= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Ser402= Single submitter Cardiovascular phenotype
- p.Ser69= Single submitter Cardiovascular phenotype
- p.Ser73= Single submitter Cardiovascular phenotype
- p.Thr179= Single submitter Cardiovascular phenotype
- p.Thr220= Single submitter Cardiovascular phenotype
- p.Thr268= Single submitter Cardiovascular phenotype
- p.Thr293= Single submitter Cardiovascular phenotype
- p.Thr304= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Thr330= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Thr371= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Thr371Met Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Thr386= Single submitter Cardiovascular phenotype
- p.Thr413= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Tyr354= Single submitter Cardiovascular phenotype
- p.Val160Met Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Val170= Single submitter Cardiovascular phenotype
- p.Val207= Single submitter Cardiovascular phenotype
- p.Val256= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Val380= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Val411= Single submitter telangiectasia, hereditary hemorrhagic, type 5
Uncertain significance 108
- p.Ala105Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Arg213Cys Multiple submitters telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Arg30Pro Multiple submitters telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Arg317Gln Multiple submitters telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Arg333Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Cys356Tyr Multiple submitters telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Glu267Asp Multiple submitters telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Glu297Lys Multiple submitters telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Gly22Arg Multiple submitters telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Gly236Ser Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Gly247Val Multiple submitters Cardiovascular phenotype ⚠
- p.Gly359Ser Multiple submitters telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Leu152His Multiple submitters telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Pro104Leu Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Pro140Leu Multiple submitters telangiectasia, hereditary hemorrhagic, type 5
- p.Pro348Thr Multiple submitters telangiectasia, hereditary hemorrhagic, type 5 ⚠
- c.347-5T>G Single submitter telangiectasia, hereditary hemorrhagic, type 5
- c.-19G>A Single submitter telangiectasia, hereditary hemorrhagic, type 5
- c.-3A>G Single submitter Cardiovascular phenotype
- p.Ala105Glu Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ala105Thr Single submitter ⚠
- p.Ala181Asp Single submitter Cardiovascular phenotype ⚠
- p.Ala185Asp Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ala323Thr Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ala323Val Single submitter Cardiovascular phenotype ⚠
- p.Ala33Thr Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ala347Val Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ala374Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala37Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala391Val Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Arg213Leu Single submitter Cardiovascular phenotype ⚠
- p.Arg216Gln Single submitter ⚠
- p.Arg234Lys Single submitter Cardiovascular phenotype ⚠
- p.Arg269Lys Single submitter Cardiovascular phenotype ⚠
- p.Arg68His Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Asp116= Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Asp174Val Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Asp177Asn Single submitter Cardiovascular phenotype ⚠
- p.Asp366Tyr Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Cys426Arg Single submitter ⚠
- p.Cys426Ser Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Gln21Lys Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Gln78Arg Single submitter ⚠
- p.Gln87His Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Glu115Asp Single submitter Cardiovascular phenotype
- p.Glu355Gln Single submitter ⚠
- p.Glu355Lys Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Glu419Lys Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Glu50fs Single submitter
- p.Glu60Asp Single submitter ⚠
- p.Glu84Val Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Gly18Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly247Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly29fs Single submitter Cardiovascular phenotype
- p.Gly340Ser Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Gly389Asp Single submitter
- p.Gly420Asp Single submitter Cardiovascular phenotype ⚠
- p.Gly427Glu Single submitter ⚠
- p.Gly427Val Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Gly42Trp Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Gly45Glu Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Gly4Arg Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.His278Asp Single submitter Cardiovascular phenotype
- p.His278Pro Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Ile132Thr Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ile139Thr Single submitter Cardiovascular phenotype ⚠
- p.Ile145Asn Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ile172Val Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Leu12Val Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Met409Ile Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Met421Thr Single submitter ⚠
- p.Met89Leu Single submitter
- p.Phe112Leu Single submitter ⚠
- p.Phe361Cys Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Phe66Val Single submitter Cardiovascular phenotype ⚠
- p.Pro245Ser Single submitter Cardiovascular phenotype ⚠
- p.Pro348Ser Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Pro395Leu Single submitter Cardiovascular phenotype ⚠
- p.Pro49Leu Single submitter Cardiovascular phenotype ⚠
- p.Ser14Cys Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ser14Phe Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ser155Phe Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ser184Asn Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ser184Gly Single submitter GDF2-related disorder ⚠
- p.Ser243Asn Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ser262Asn Single submitter ⚠
- p.Ser277Asn Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Ser292Phe Single submitter ⚠
- p.Ser298Ile Single submitter Cardiovascular phenotype ⚠
- p.Thr103Arg Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Thr103Met Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Thr313Ala Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Thr313Asn Single submitter Cardiovascular phenotype ⚠
- p.Thr97Arg Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Thr97Met Single submitter Cardiovascular phenotype ⚠
- p.Trp341Cys Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Tyr153Cys Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Tyr93Cys Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Tyr96His Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Val154Ala Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Val170Met Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Val207Leu Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Val211Met Single submitter telangiectasia, hereditary hemorrhagic, type 5 ⚠
- p.Val376Leu Single submitter Cardiovascular phenotype ⚠
- p.Val388Met Single submitter telangiectasia, hereditary hemorrhagic, type 5
- p.Val75Phe Single submitter Cardiovascular phenotype ⚠
- p.Ala148Gly No assertion criteria ⚠
- p.Trp341Ter No assertion criteria