Sugi Variant

Sugi Variant/EXT1

EXT1 — 1192 ClinVar variants

All ClinVar germline EXT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 361 flagged for review →

384 Pathogenic · 28 Pathogenic/Likely pathogenic · 72 Likely pathogenic · 40 Conflicting · 41 Benign · 8 Benign/Likely benign · 224 Likely benign · 395 Uncertain significance

Full EXT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 361

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 18

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

Predicted LoF vs a conflicting call 1

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

Predictors lean, ClinVar uncertain 260

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 260

Predictors split 82

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

All EXT1 variants

Pathogenic 384

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

  • c.1056+1G>A Multiple submitters hereditary multiple osteochondromas
  • c.1056+1G>T Multiple submitters hereditary multiple osteochondromas
  • c.1165-1G>A Multiple submitters hereditary multiple osteochondromas
  • c.1285-1G>C Multiple submitters hereditary multiple osteochondromas
  • c.1417+1G>A Multiple submitters hereditary multiple osteochondromas
  • c.1417+1G>T Multiple submitters hereditary multiple osteochondromas
  • c.1418-1G>A Multiple submitters exostoses, multiple, type 1
  • c.1418-2A>G Multiple submitters exostoses, multiple, type 1
  • c.1536+1G>A Multiple submitters hereditary multiple osteochondromas
  • c.1633-1G>A Multiple submitters hereditary multiple osteochondromas
  • c.1633-1G>T Multiple submitters hereditary multiple osteochondromas
  • c.1633-2A>G Multiple submitters EXT1-related disorders
  • c.1722+1G>A Multiple submitters EXT1-related disorders
  • c.1722+1G>T Multiple submitters hereditary multiple osteochondromas
  • c.1723-1G>A Multiple submitters hereditary multiple osteochondromas
  • c.1723-1G>C Multiple submitters EXT1-related disorders
  • c.1723-2A>C Multiple submitters hereditary multiple osteochondromas
  • c.1883+1G>A Multiple submitters hereditary multiple osteochondromas
  • c.1884-1G>C Multiple submitters exostoses, multiple, type 1
  • c.962+1G>A Multiple submitters hereditary multiple osteochondromas
  • c.962+1G>T Multiple submitters EXT1-related disorders
  • c.963-2A>G Multiple submitters hereditary multiple osteochondromas
  • p.Ala693fs Multiple submitters exostoses, multiple, type 1
  • p.Arg280Gly Multiple submitters exostoses, multiple, type 1
  • p.Arg340His Multiple submitters exostoses, multiple, type 1 ⚠
  • p.Arg340Leu Multiple submitters chondrosarcoma
  • p.Arg405fs Multiple submitters hereditary multiple osteochondromas
  • p.Arg595fs Multiple submitters EXT1-related disorders
  • p.Arg6fs Multiple submitters hereditary multiple osteochondromas
  • p.Arg83fs Multiple submitters hereditary multiple osteochondromas
  • p.Asn446_Lys447insHisValThrValTer Multiple submitters hereditary multiple osteochondromas
  • p.Asp164fs Multiple submitters EXT1-related disorders
  • p.Cys152Ter Multiple submitters hereditary multiple osteochondromas
  • p.Gln165Ter Multiple submitters hereditary multiple osteochondromas
  • p.Gln179Ter Multiple submitters hereditary multiple osteochondromas
  • p.Gln213Ter Multiple submitters hereditary multiple osteochondromas
  • p.Gln2Ter Multiple submitters exostoses, multiple, type 1
  • p.Gln305Ter Multiple submitters hereditary multiple osteochondromas
  • p.Gln409Ter Multiple submitters exostoses, multiple, type 1
  • p.Gln493Ter Multiple submitters exostoses, multiple, type 1
  • p.Gln508fs Multiple submitters hereditary multiple osteochondromas
  • p.Gln508Ter Multiple submitters hereditary multiple osteochondromas
  • p.Gln84Ter Multiple submitters hereditary multiple osteochondromas
  • p.Glu129Ter Multiple submitters hereditary multiple osteochondromas
  • p.Glu39fs Multiple submitters hereditary multiple osteochondromas
  • p.Glu604Ter Multiple submitters EXT1-related disorders
  • p.Gly339Asp Multiple submitters hereditary multiple osteochondromas
  • p.His285fs Multiple submitters hereditary multiple osteochondromas
  • p.Leu181fs Multiple submitters hereditary multiple osteochondromas
  • p.Leu490fs Multiple submitters exostoses, multiple, type 1
  • p.Leu667Ter Multiple submitters hereditary multiple osteochondromas
  • p.Phe250_Leu251insTer Multiple submitters hereditary multiple osteochondromas
  • p.Phe65fs Multiple submitters hereditary multiple osteochondromas
  • p.Pro390fs Multiple submitters hereditary multiple osteochondromas
  • p.Pro59fs Multiple submitters hereditary multiple osteochondromas
  • p.Pro669fs Multiple submitters Inborn genetic diseases
  • p.Ser238fs Multiple submitters EXT1-related disorder
  • p.Ser439Ter Multiple submitters hereditary multiple osteochondromas
  • p.Ser478fs Multiple submitters exostoses, multiple, type 1
  • p.Thr568fs Multiple submitters hereditary multiple osteochondromas
  • p.Trp200Ter Multiple submitters hereditary multiple osteochondromas
  • p.Trp304Ter Multiple submitters hereditary multiple osteochondromas
  • p.Trp606Ter Multiple submitters hereditary multiple osteochondromas
  • p.Trp68Ter Multiple submitters Inborn genetic diseases
  • p.Tyr262Ter Multiple submitters exostoses, multiple, type 1
  • p.Tyr553fs Multiple submitters exostoses, multiple, type 1
  • p.Tyr592fs Multiple submitters hereditary multiple osteochondromas
  • p.Tyr616Ter Multiple submitters hereditary multiple osteochondromas
  • p.Tyr626Ter Multiple submitters hereditary multiple osteochondromas
  • p.Tyr637Ter Multiple submitters hereditary multiple osteochondromas
  • c.1049_1056+1del Single submitter exostoses, multiple, type 1
  • c.1053_1056+1del Single submitter hereditary multiple osteochondromas
  • c.1056+2T>A Single submitter hereditary multiple osteochondromas
  • c.1056+2T>C Single submitter exostoses, multiple, type 1
  • c.1056+3A>C Single submitter hereditary multiple osteochondromas
  • c.1057-1G>C Single submitter hereditary multiple osteochondromas
  • c.1057-2A>G Single submitter hereditary multiple osteochondromas
  • c.1057-2A>T Single submitter hereditary multiple osteochondromas
  • c.1164+1G>A Single submitter hereditary multiple osteochondromas
  • c.1164+1G>T Single submitter hereditary multiple osteochondromas
  • c.1165-1G>C Single submitter hereditary multiple osteochondromas
  • c.1165-2A>C Single submitter hereditary multiple osteochondromas
  • c.1165-2A>G Single submitter hereditary multiple osteochondromas
  • c.124_962+1815del Single submitter hereditary multiple osteochondromas
  • c.1284+2T>C Single submitter hereditary multiple osteochondromas
  • c.1285-1G>T Single submitter hereditary multiple osteochondromas
  • c.1285-2A>G Single submitter exostoses, multiple, type 1
  • c.1417+1del Single submitter hereditary multiple osteochondromas
  • c.1417+1G>C Single submitter hereditary multiple osteochondromas
  • c.1417+2T>A Single submitter hereditary multiple osteochondromas
  • c.1418-2A>C Single submitter hereditary multiple osteochondromas
  • c.1536+1G>C Single submitter hereditary multiple osteochondromas
  • c.1536+2T>G Single submitter
  • c.1537-1G>C Single submitter hereditary multiple osteochondromas
  • c.1537-2A>G Single submitter hereditary multiple osteochondromas
  • c.1632+1dup Single submitter hereditary multiple osteochondromas
  • c.1632+1G>A Single submitter hereditary multiple osteochondromas
  • c.1632+2T>G Single submitter hereditary multiple osteochondromas
  • c.1633-34_1670del Single submitter hereditary multiple osteochondromas
  • c.1722+1G>C Single submitter exostoses, multiple, type 1
  • c.1722+2dup Single submitter hereditary multiple osteochondromas
  • c.1722+2T>G Single submitter hereditary multiple osteochondromas
  • c.1883+1G>T Single submitter hereditary multiple osteochondromas
  • c.1883+2_1883+3del Single submitter hereditary multiple osteochondromas
  • c.1883+2T>C Single submitter hereditary multiple osteochondromas
  • c.1884-1G>A Single submitter hereditary multiple osteochondromas
  • c.1884-1G>T Single submitter hereditary multiple osteochondromas
  • c.1884-2A>G Single submitter
  • c.2055+52_*298del Single submitter exostoses, multiple, type 1
  • c.540_962+399del Single submitter hereditary multiple osteochondromas
  • c.962+1G>C Single submitter hereditary multiple osteochondromas
  • c.962+2T>A Single submitter hereditary multiple osteochondromas
  • c.962+2T>G Single submitter
  • c.963-1G>A Single submitter hereditary multiple osteochondromas
  • c.963-1G>C Single submitter
  • p.Ala137fs Single submitter hereditary multiple osteochondromas
  • p.Ala217fs Single submitter hereditary multiple osteochondromas
  • p.Ala219fs Single submitter hereditary multiple osteochondromas
  • p.Ala30fs Single submitter exostoses, multiple, type 1
  • p.Ala331Asp Single submitter hereditary multiple osteochondromas
  • p.Ala503fs Single submitter hereditary multiple osteochondromas
  • p.Ala560fs Single submitter hereditary multiple osteochondromas
  • p.Ala640fs Single submitter hereditary multiple osteochondromas
  • p.Ala689fs Single submitter hereditary multiple osteochondromas
  • p.Arg142fs Single submitter hereditary multiple osteochondromas
  • p.Arg163fs Single submitter hereditary multiple osteochondromas
  • p.Arg227Ter Single submitter hereditary multiple osteochondromas
  • p.Arg248fs Single submitter
  • p.Arg260fs Single submitter hereditary multiple osteochondromas
  • p.Arg270fs Single submitter hereditary multiple osteochondromas
  • p.Arg270Trp Single submitter hereditary multiple osteochondromas
  • p.Arg280fs Single submitter hereditary multiple osteochondromas
  • p.Arg280Ser Single submitter hereditary multiple osteochondromas
  • p.Arg280Trp Single submitter hereditary multiple osteochondromas
  • p.Arg346Ile Single submitter hereditary multiple osteochondromas
  • p.Arg384fs Single submitter hereditary multiple osteochondromas
  • p.Arg433fs Single submitter
  • p.Arg440fs Single submitter hereditary multiple osteochondromas
  • p.Arg588fs Single submitter hereditary multiple osteochondromas
  • p.Asn112fs Single submitter EXT1-related disorder
  • p.Asn173_Leu174insTer Single submitter exostoses, multiple, type 1
  • p.Asn173Ter Single submitter hereditary multiple osteochondromas
  • p.Asn186fs Single submitter hereditary multiple osteochondromas
  • p.Asn225fs Single submitter hereditary multiple osteochondromas
  • p.Asn229fs Single submitter hereditary multiple osteochondromas
  • p.Asn254fs Single submitter hereditary multiple osteochondromas
  • p.Asn330fs Single submitter hereditary multiple osteochondromas
  • p.Asn441fs Single submitter
  • p.Asn441Ter Single submitter hereditary multiple osteochondromas
  • p.Asn44fs Single submitter hereditary multiple osteochondromas
  • p.Asn601_Ser602insTer Single submitter hereditary multiple osteochondromas
  • p.Asn651fs Single submitter EXT1-related disorder
  • p.Asn89fs Single submitter hereditary multiple osteochondromas
  • p.Asp105fs Single submitter
  • p.Asp240fs Single submitter
  • p.Asp303fs Single submitter hereditary multiple osteochondromas
  • p.Asp315fs Single submitter EXT1-related disorders
  • p.Asp432fs Single submitter hereditary multiple osteochondromas
  • p.Asp565Ter Single submitter hereditary multiple osteochondromas
  • p.Asp576fs Single submitter
  • p.Asp615fs Single submitter hereditary multiple osteochondromas
  • p.Cys109Ter Single submitter hereditary multiple osteochondromas
  • p.Cys152fs Single submitter hereditary multiple osteochondromas
  • p.Cys16fs Single submitter
  • p.Cys334fs Single submitter hereditary multiple osteochondromas
  • p.Cys355Ter Single submitter hereditary multiple osteochondromas
  • p.Cys355Trp Single submitter hereditary multiple osteochondromas
  • p.Cys355Tyr Single submitter hereditary multiple osteochondromas
  • p.Cys519Ter Single submitter
  • p.Cys98fs Single submitter hereditary multiple osteochondromas
  • p.Gln121fs Single submitter
  • p.Gln121Ter Single submitter hereditary multiple osteochondromas
  • p.Gln122Ter Single submitter hereditary multiple osteochondromas
  • p.Gln150Ter Single submitter hereditary multiple osteochondromas
  • p.Gln179fs Single submitter hereditary multiple osteochondromas
  • p.Gln213fs Single submitter hereditary multiple osteochondromas
  • p.Gln27Ter Single submitter hereditary multiple osteochondromas
  • p.Gln376fs Single submitter hereditary multiple osteochondromas
  • p.Gln376Ter Single submitter hereditary multiple osteochondromas
  • p.Gln388Ter Single submitter hereditary multiple osteochondromas
  • p.Gln398fs Single submitter hereditary multiple osteochondromas
  • p.Gln398Ter Single submitter hereditary multiple osteochondromas
  • p.Gln406fs Single submitter hereditary multiple osteochondromas
  • p.Gln406Ter Single submitter hereditary multiple osteochondromas
  • p.Gln407fs Single submitter hereditary multiple osteochondromas
  • p.Gln407Ter Single submitter hereditary multiple osteochondromas
  • p.Gln512Ter Single submitter hereditary multiple osteochondromas
  • p.Gln648fs Single submitter hereditary multiple osteochondromas
  • p.Gln677Ter Single submitter hereditary multiple osteochondromas
  • p.Gln702Ter Single submitter hereditary multiple osteochondromas
  • p.Gln70Ter Single submitter hereditary multiple osteochondromas
  • p.Gln84fs Single submitter hereditary multiple osteochondromas
  • p.Glu125fs Single submitter hereditary multiple osteochondromas
  • p.Glu125Ter Single submitter hereditary multiple osteochondromas
  • p.Glu139fs Single submitter
  • p.Glu205Ter Single submitter hereditary multiple osteochondromas
  • p.Glu224Ter Single submitter hereditary multiple osteochondromas
  • p.Glu247Ter Single submitter hereditary multiple osteochondromas
  • p.Glu290Ter Single submitter hereditary multiple osteochondromas
  • p.Glu349fs Single submitter hereditary multiple osteochondromas
  • p.Glu370Ter Single submitter hereditary multiple osteochondromas
  • p.Glu383Ter Single submitter
  • p.Glu38fs Single submitter EXT1-related disorders
  • p.Glu38Ter Single submitter hereditary multiple osteochondromas
  • p.Glu39Ter Single submitter hereditary multiple osteochondromas
  • p.Glu413fs Single submitter
  • p.Glu540Ter Single submitter hereditary multiple osteochondromas
  • p.Glu542Ter Single submitter hereditary multiple osteochondromas
  • p.Glu566Ter Single submitter hereditary multiple osteochondromas
  • p.Glu574fs Single submitter hereditary multiple osteochondromas
  • p.Glu587Ter Single submitter hereditary multiple osteochondromas
  • p.Gly140fs Single submitter hereditary multiple osteochondromas
  • p.Gly268Val Single submitter hereditary multiple osteochondromas
  • p.Gly274_Ile275insTer Single submitter hereditary multiple osteochondromas
  • p.Gly274fs Single submitter
  • p.Gly339Ser Single submitter hereditary multiple osteochondromas
  • p.Gly339Val Single submitter hereditary multiple osteochondromas
  • p.Gly451fs Single submitter hereditary multiple osteochondromas
  • p.Gly591fs Single submitter hereditary multiple osteochondromas
  • p.Gly607fs Single submitter hereditary multiple osteochondromas
  • p.Gly607Ter Single submitter hereditary multiple osteochondromas
  • p.Gly95fs Single submitter hereditary multiple osteochondromas
  • p.His172fs Single submitter hereditary multiple osteochondromas
  • p.His307fs Single submitter
  • p.His329fs Single submitter hereditary multiple osteochondromas
  • p.His40fs Single submitter
  • p.His437fs Single submitter hereditary multiple osteochondromas
  • p.His48fs Single submitter exostoses, multiple, type 1
  • p.His527fs Single submitter hereditary multiple osteochondromas
  • p.His636fs Single submitter hereditary multiple osteochondromas
  • p.Ile127fs Single submitter hereditary multiple osteochondromas
  • p.Ile134_Leu135insTer Single submitter hereditary multiple osteochondromas
  • p.Ile138fs Single submitter exostoses, multiple, type 1
  • p.Ile234delinsPhePhePhePhePhePheXaaXaaXaaXaaSerTer Single submitter hereditary multiple osteochondromas
  • p.Ile401fs Single submitter hereditary multiple osteochondromas
  • p.Ile430fs Single submitter hereditary multiple osteochondromas
  • p.Ile556fs Single submitter hereditary multiple osteochondromas
  • p.Ile557_Leu562del Single submitter hereditary multiple osteochondromas
  • p.Leu17fs Single submitter hereditary multiple osteochondromas
  • p.Leu183_Trp184insTer Single submitter hereditary multiple osteochondromas
  • p.Leu191Ter Single submitter exostoses, multiple, type 1
  • p.Leu195Ter Single submitter hereditary multiple osteochondromas
  • p.Leu19fs Single submitter hereditary multiple osteochondromas
  • p.Leu259fs Single submitter hereditary multiple osteochondromas
  • p.Leu264Arg Single submitter hereditary multiple osteochondromas
  • p.Leu264fs Single submitter hereditary multiple osteochondromas
  • p.Leu283fs Single submitter hereditary multiple osteochondromas
  • p.Leu294fs Single submitter hereditary multiple osteochondromas
  • p.Leu342fs Single submitter hereditary multiple osteochondromas
  • p.Leu351fs Single submitter hereditary multiple osteochondromas
  • p.Leu385Ter Single submitter hereditary multiple osteochondromas
  • p.Leu386Ter Single submitter hereditary multiple osteochondromas
  • p.Leu411Ter Single submitter hereditary multiple osteochondromas
  • p.Leu424fs Single submitter hereditary multiple osteochondromas
  • p.Leu424Ter Single submitter hereditary multiple osteochondromas
  • p.Leu462fs Single submitter hereditary multiple osteochondromas
  • p.Leu472Ter Single submitter hereditary multiple osteochondromas
  • p.Leu523fs Single submitter hereditary multiple osteochondromas
  • p.Leu562Pro Single submitter hereditary multiple osteochondromas
  • p.Leu570fs Single submitter hereditary multiple osteochondromas
  • p.Leu642fs Single submitter hereditary multiple osteochondromas
  • p.Leu656fs Single submitter hereditary multiple osteochondromas
  • p.Leu667fs Single submitter hereditary multiple osteochondromas
  • p.Lys111fs Single submitter
  • p.Lys111Ter Single submitter hereditary multiple osteochondromas
  • p.Lys126fs Single submitter hereditary multiple osteochondromas
  • p.Lys218fs Single submitter exostoses, multiple, type 1
  • p.Lys239Ter Single submitter hereditary multiple osteochondromas
  • p.Lys252fs Single submitter hereditary multiple osteochondromas
  • p.Lys321Ter Single submitter hereditary multiple osteochondromas
  • p.Lys436fs Single submitter hereditary multiple osteochondromas
  • p.Lys475fs Single submitter hereditary multiple osteochondromas
  • p.Lys479fs Single submitter hereditary multiple osteochondromas
  • p.Lys526fs Single submitter
  • p.Lys526Ter Single submitter hereditary multiple osteochondromas
  • p.Lys603Ter Single submitter hereditary multiple osteochondromas
  • p.Lys628Ter Single submitter hereditary multiple osteochondromas
  • p.Lys666Ter Single submitter hereditary multiple osteochondromas
  • p.Lys676Ter Single submitter hereditary multiple osteochondromas
  • p.Lys96fs Single submitter hereditary multiple osteochondromas
  • p.Lys96Ter Single submitter hereditary multiple osteochondromas
  • p.Met1Leu Single submitter hereditary multiple osteochondromas
  • p.Met1Thr Single submitter hereditary multiple osteochondromas
  • p.Met215fs Single submitter hereditary multiple osteochondromas
  • p.Met263fs Single submitter hereditary multiple osteochondromas
  • p.Met359fs Single submitter hereditary multiple osteochondromas
  • p.Met657fs Single submitter hereditary multiple osteochondromas
  • p.Met682fs Single submitter hereditary multiple osteochondromas
  • p.Met705fs Single submitter hereditary multiple osteochondromas
  • p.Phe21Ter Single submitter
  • p.Phe237_Ser238insTer Single submitter hereditary multiple osteochondromas
  • p.Phe250fs Single submitter hereditary multiple osteochondromas
  • p.Phe266fs Single submitter hereditary multiple osteochondromas
  • p.Phe585fs Single submitter exostoses, multiple, type 1
  • p.Pro235Arg Single submitter exostoses, multiple, type 1
  • p.Pro257fs Single submitter hereditary multiple osteochondromas
  • p.Pro258fs Single submitter hereditary multiple osteochondromas
  • p.Pro337Arg Single submitter hereditary multiple osteochondromas
  • p.Pro357fs Single submitter hereditary multiple osteochondromas
  • p.Pro466fs Single submitter

Pathogenic/Likely pathogenic 28

  • c.1723-2A>T Multiple submitters exostoses, multiple, type 1
  • c.962+3_962+6del Multiple submitters EXT1-related disorders
  • p.Ala594fs Multiple submitters EXT1-related disorders
  • p.Arg340Cys Multiple submitters chondrosarcoma
  • p.Arg340Gly Multiple submitters exostoses, multiple, type 1
  • p.Arg341Gly Multiple submitters exostoses, multiple, type 1
  • p.Arg346Gly Multiple submitters hereditary multiple osteochondromas
  • p.Arg701Ter Multiple submitters hereditary multiple osteochondromas
  • p.Arg86Ter Multiple submitters EXT1-related disorders
  • p.Cys355Arg Multiple submitters hereditary multiple osteochondromas
  • p.Gln352His Multiple submitters hereditary multiple osteochondromas
  • p.Gln431Ter Multiple submitters EXT1-related disorders
  • p.Gln674Ter Multiple submitters exostoses, multiple, type 1
  • p.Gln685Ter Multiple submitters exostoses, multiple, type 1
  • p.Gly198Val Multiple submitters EXT1-related disorders
  • p.Gly24Ter Multiple submitters exostoses, multiple, type 1
  • p.Gly268Arg Multiple submitters hereditary multiple osteochondromas
  • p.Gly268Glu Multiple submitters hereditary multiple osteochondromas
  • p.Gly343Arg Multiple submitters hereditary multiple osteochondromas
  • p.Leu191Ser Multiple submitters hereditary multiple osteochondromas
  • p.Leu474Ter Multiple submitters hereditary multiple osteochondromas
  • p.Leu660fs Multiple submitters exostoses, multiple, type 1
  • p.Phe154fs Multiple submitters EXT1-related disorders
  • p.Trp364Ter Multiple submitters exostoses, multiple, type 1
  • p.Tyr119fs Multiple submitters hereditary multiple osteochondromas
  • p.Tyr119Ter Multiple submitters EXT1-related disorders
  • p.Tyr203Cys Multiple submitters hereditary multiple osteochondromas
  • p.Tyr284Ter Multiple submitters hereditary multiple osteochondromas

Likely pathogenic 72

Conflicting classifications of pathogenicity 40

Benign 41

Benign/Likely benign 8

  • c.1536+7G>A Multiple submitters exostoses, multiple, type 1
  • c.1537-16G>A Multiple submitters hereditary multiple osteochondromas
  • p.Ala594= Multiple submitters exostoses, multiple, type 1
  • p.Glu653= Multiple submitters exostoses, multiple, type 1
  • p.Phe453= Multiple submitters hereditary multiple osteochondromas
  • p.Pro593= Multiple submitters exostoses, multiple, type 1
  • p.Pro726= Multiple submitters hereditary multiple osteochondromas
  • p.Ser33= Multiple submitters hereditary multiple osteochondromas

Likely benign 224

  • c.1284+25G>A Multiple submitters exostoses, multiple, type 1
  • c.1537-149C>G Multiple submitters
  • c.1537-201C>G Multiple submitters
  • c.1722+9C>T Multiple submitters hereditary multiple osteochondromas
  • c.1723-17T>A Multiple submitters hereditary multiple osteochondromas
  • c.1883+16A>G Multiple submitters hereditary multiple osteochondromas
  • c.962+7G>C Multiple submitters hereditary multiple osteochondromas
  • c.963-16C>T Multiple submitters hereditary multiple osteochondromas
  • c.963-45T>C Multiple submitters
  • p.Asn194= Multiple submitters hereditary multiple osteochondromas
  • p.Asn446= Multiple submitters hereditary multiple osteochondromas
  • p.Glu101= Multiple submitters hereditary multiple osteochondromas
  • p.Glu72Lys Multiple submitters hereditary multiple osteochondromas
  • p.His285= Multiple submitters hereditary multiple osteochondromas
  • p.Leu501= Multiple submitters Inborn genetic diseases
  • p.Leu724= Multiple submitters hereditary multiple osteochondromas
  • p.Pro456= Multiple submitters hereditary multiple osteochondromas
  • p.Ser197= Multiple submitters hereditary multiple osteochondromas
  • p.Thr613= Multiple submitters chondrosarcoma
  • p.Tyr22= Multiple submitters hereditary multiple osteochondromas
  • p.Tyr553= Multiple submitters hereditary multiple osteochondromas
  • p.Val454Ile Multiple submitters exostoses, multiple, type 1
  • p.Val536= Multiple submitters hereditary multiple osteochondromas
  • c.1056+11C>T Single submitter hereditary multiple osteochondromas
  • c.1056+16G>A Single submitter
  • c.1057-11T>C Single submitter hereditary multiple osteochondromas
  • c.1164+15G>A Single submitter hereditary multiple osteochondromas
  • c.1164+220A>G Single submitter
  • c.1164+8A>G Single submitter hereditary multiple osteochondromas
  • c.1165-121A>G Single submitter
  • c.1165-4A>G Single submitter hereditary multiple osteochondromas
  • c.1284+127T>C Single submitter
  • c.1284+12del Single submitter hereditary multiple osteochondromas
  • c.1284+19C>T Single submitter hereditary multiple osteochondromas
  • c.1284+20T>C Single submitter hereditary multiple osteochondromas
  • c.1284+7G>A Single submitter hereditary multiple osteochondromas
  • c.1285-6T>G Single submitter hereditary multiple osteochondromas
  • c.1285-9A>G Single submitter hereditary multiple osteochondromas
  • c.1417+16C>T Single submitter hereditary multiple osteochondromas
  • c.1417+19G>C Single submitter hereditary multiple osteochondromas
  • c.1418-13_1418-11del Single submitter hereditary multiple osteochondromas
  • c.1418-13C>T Single submitter hereditary multiple osteochondromas
  • c.1418-20T>C Single submitter hereditary multiple osteochondromas
  • c.1418-7A>G Single submitter hereditary multiple osteochondromas
  • c.1418-8T>C Single submitter hereditary multiple osteochondromas
  • c.1418-8T>G Single submitter hereditary multiple osteochondromas
  • c.1536+11A>G Single submitter hereditary multiple osteochondromas
  • c.1536+6C>T Single submitter hereditary multiple osteochondromas
  • c.1537-11del Single submitter hereditary multiple osteochondromas
  • c.1632+10G>A Single submitter hereditary multiple osteochondromas
  • c.1632+15G>C Single submitter hereditary multiple osteochondromas
  • c.1632+16G>A Single submitter hereditary multiple osteochondromas
  • c.1632+16G>C Single submitter hereditary multiple osteochondromas
  • c.1632+9C>A Single submitter hereditary multiple osteochondromas
  • c.1632+9C>T Single submitter
  • c.1633-14C>G Single submitter hereditary multiple osteochondromas
  • c.1633-15T>A Single submitter hereditary multiple osteochondromas
  • c.1633-15T>G Single submitter
  • c.1633-16T>C Single submitter hereditary multiple osteochondromas
  • c.1633-5C>T Single submitter hereditary multiple osteochondromas
  • c.1722+11A>G Single submitter hereditary multiple osteochondromas
  • c.1883+14A>G Single submitter hereditary multiple osteochondromas
  • c.1883+14A>T Single submitter hereditary multiple osteochondromas
  • c.1884-11G>A Single submitter hereditary multiple osteochondromas
  • c.1884-137CAT[6] Single submitter
  • c.1884-15C>G Single submitter hereditary multiple osteochondromas
  • c.2055+10G>A Single submitter hereditary multiple osteochondromas
  • c.2055+17C>T Single submitter hereditary multiple osteochondromas
  • c.2055+18C>T Single submitter hereditary multiple osteochondromas
  • c.2055+18dup Single submitter hereditary multiple osteochondromas
  • c.2055+20del Single submitter hereditary multiple osteochondromas
  • c.2055+7A>C Single submitter hereditary multiple osteochondromas
  • c.2056-14C>G Single submitter hereditary multiple osteochondromas
  • c.2056-14C>T Single submitter hereditary multiple osteochondromas
  • c.2056-19T>C Single submitter hereditary multiple osteochondromas
  • c.2056-5C>G Single submitter hereditary multiple osteochondromas
  • c.962+14C>T Single submitter hereditary multiple osteochondromas
  • c.962+17del Single submitter hereditary multiple osteochondromas
  • c.962+18C>T Single submitter hereditary multiple osteochondromas
  • c.962+68368CTTC[7] Single submitter
  • c.962+68368CTTC[9] Single submitter
  • c.962+7G>A Single submitter hereditary multiple osteochondromas
  • c.963-10C>T Single submitter hereditary multiple osteochondromas
  • c.963-13C>T Single submitter hereditary multiple osteochondromas
  • c.963-14T>G Single submitter hereditary multiple osteochondromas
  • c.963-15C>T Single submitter hereditary multiple osteochondromas
  • c.963-6T>C Single submitter hereditary multiple osteochondromas
  • c.963-7dup Single submitter hereditary multiple osteochondromas
  • c.-642G>A Single submitter hereditary multiple osteochondromas
  • c.*144dup Single submitter
  • c.*8G>A Single submitter
  • p.Ala128= Single submitter hereditary multiple osteochondromas
  • p.Ala151= Single submitter hereditary multiple osteochondromas
  • p.Ala18= Single submitter hereditary multiple osteochondromas
  • p.Ala217= Single submitter hereditary multiple osteochondromas
  • p.Ala282Thr Single submitter exostoses, multiple, type 1 ⚠
  • p.Ala350= Single submitter hereditary multiple osteochondromas
  • p.Ala378= Single submitter hereditary multiple osteochondromas
  • p.Ala503= Single submitter hereditary multiple osteochondromas
  • p.Ala505= Single submitter hereditary multiple osteochondromas
  • p.Ala531= Single submitter hereditary multiple osteochondromas
  • p.Ala533= Single submitter hereditary multiple osteochondromas
  • p.Ala624= Single submitter hereditary multiple osteochondromas
  • p.Ala640= Single submitter hereditary multiple osteochondromas
  • p.Ala689= Single submitter hereditary multiple osteochondromas
  • p.Ala693= Single submitter hereditary multiple osteochondromas
  • p.Arg32= Single submitter hereditary multiple osteochondromas
  • p.Arg338= Single submitter hereditary multiple osteochondromas
  • p.Arg346= Single submitter hereditary multiple osteochondromas
  • p.Arg37= Single submitter
  • p.Arg433= Single submitter hereditary multiple osteochondromas
  • p.Arg440His Single submitter hereditary multiple osteochondromas
  • p.Arg6= Single submitter hereditary multiple osteochondromas
  • p.Arg86= Single submitter
  • p.Asn186= Single submitter hereditary multiple osteochondromas
  • p.Asn614= Single submitter hereditary multiple osteochondromas
  • p.Asp105= Single submitter hereditary multiple osteochondromas
  • p.Asp147= Single submitter hereditary multiple osteochondromas
  • p.Asp206= Single submitter hereditary multiple osteochondromas
  • p.Asp323= Single submitter hereditary multiple osteochondromas
  • p.Asp559= Single submitter hereditary multiple osteochondromas
  • p.Asp565= Single submitter hereditary multiple osteochondromas
  • p.Asp615= Single submitter hereditary multiple osteochondromas
  • p.Asp694= Single submitter hereditary multiple osteochondromas
  • p.Gln122= Single submitter hereditary multiple osteochondromas
  • p.Gln431= Single submitter hereditary multiple osteochondromas
  • p.Gln648= Single submitter hereditary multiple osteochondromas
  • p.Gln702= Single submitter hereditary multiple osteochondromas
  • p.Glu205= Single submitter hereditary multiple osteochondromas
  • p.Glu326= Single submitter hereditary multiple osteochondromas
  • p.Glu413= Single submitter hereditary multiple osteochondromas
  • p.Gly113= Single submitter hereditary multiple osteochondromas
  • p.Gly249= Single submitter hereditary multiple osteochondromas
  • p.Gly381= Single submitter hereditary multiple osteochondromas
  • p.His190= Single submitter hereditary multiple osteochondromas
  • p.His329= Single submitter hereditary multiple osteochondromas
  • p.His34= Single submitter hereditary multiple osteochondromas
  • p.His47= Single submitter hereditary multiple osteochondromas
  • p.His485= Single submitter hereditary multiple osteochondromas
  • p.His631= Single submitter hereditary multiple osteochondromas
  • p.His79= Single submitter hereditary multiple osteochondromas
  • p.Ile138= Single submitter hereditary multiple osteochondromas
  • p.Ile221= Single submitter hereditary multiple osteochondromas
  • p.Ile256= Single submitter hereditary multiple osteochondromas
  • p.Ile670= Single submitter hereditary multiple osteochondromas
  • p.Ile80= Single submitter hereditary multiple osteochondromas
  • p.Leu135= Single submitter hereditary multiple osteochondromas
  • p.Leu156= Single submitter hereditary multiple osteochondromas
  • p.Leu17= Single submitter hereditary multiple osteochondromas
  • p.Leu181= Single submitter hereditary multiple osteochondromas
  • p.Leu216= Single submitter hereditary multiple osteochondromas
  • p.Leu236= Single submitter hereditary multiple osteochondromas
  • p.Leu264= Single submitter hereditary multiple osteochondromas
  • p.Leu294= Single submitter hereditary multiple osteochondromas
  • p.Leu342= Single submitter hereditary multiple osteochondromas
  • p.Leu366= Single submitter hereditary multiple osteochondromas
  • p.Leu402= Single submitter hereditary multiple osteochondromas
  • p.Leu411= Single submitter hereditary multiple osteochondromas
  • p.Leu452= Single submitter hereditary multiple osteochondromas
  • p.Leu498= Single submitter hereditary multiple osteochondromas
  • p.Leu633= Single submitter hereditary multiple osteochondromas
  • p.Leu649= Single submitter hereditary multiple osteochondromas
  • p.Leu660= Single submitter hereditary multiple osteochondromas
  • p.Leu71= Single submitter hereditary multiple osteochondromas
  • p.Lys177Glu Single submitter
  • p.Lys261= Single submitter hereditary multiple osteochondromas
  • p.Lys299= Single submitter
  • p.Lys421= Single submitter hereditary multiple osteochondromas
  • p.Lys475= Single submitter hereditary multiple osteochondromas
  • p.Lys666= Single submitter hereditary multiple osteochondromas
  • p.Lys675= Single submitter
  • p.Phe106= Single submitter
  • p.Phe226= Single submitter hereditary multiple osteochondromas
  • p.Phe23= Single submitter hereditary multiple osteochondromas
  • p.Phe577= Single submitter hereditary multiple osteochondromas
  • p.Phe65= Single submitter hereditary multiple osteochondromas
  • p.Pro242= Single submitter hereditary multiple osteochondromas
  • p.Pro257= Single submitter hereditary multiple osteochondromas
  • p.Pro258= Single submitter hereditary multiple osteochondromas
  • p.Pro367= Single submitter hereditary multiple osteochondromas
  • p.Pro476= Single submitter
  • p.Pro489= Single submitter hereditary multiple osteochondromas
  • p.Pro49= Single submitter hereditary multiple osteochondromas
  • p.Pro51= Single submitter hereditary multiple osteochondromas
  • p.Pro56= Single submitter
  • p.Pro56Ala Single submitter hereditary multiple osteochondromas
  • p.Pro586= Single submitter hereditary multiple osteochondromas
  • p.Ser141= Single submitter hereditary multiple osteochondromas
  • p.Ser176= Single submitter hereditary multiple osteochondromas
  • p.Ser233= Single submitter hereditary multiple osteochondromas
  • p.Ser41= Single submitter hereditary multiple osteochondromas
  • p.Ser459= Single submitter hereditary multiple osteochondromas
  • p.Ser50Gly Single submitter hereditary multiple osteochondromas
  • p.Ser703= Single submitter hereditary multiple osteochondromas
  • p.Ser77Gly Single submitter
  • p.Ser81= Single submitter hereditary multiple osteochondromas
  • p.Thr107= Single submitter hereditary multiple osteochondromas
  • p.Thr204= Single submitter hereditary multiple osteochondromas
  • p.Thr255= Single submitter hereditary multiple osteochondromas
  • p.Thr317= Single submitter hereditary multiple osteochondromas
  • p.Thr488= Single submitter hereditary multiple osteochondromas
  • p.Thr568= Single submitter hereditary multiple osteochondromas
  • p.Thr580= Single submitter hereditary multiple osteochondromas
  • p.Thr681= Single submitter hereditary multiple osteochondromas
  • p.Thr707= Single submitter hereditary multiple osteochondromas
  • p.Tyr262= Single submitter hereditary multiple osteochondromas
  • p.Tyr322= Single submitter hereditary multiple osteochondromas
  • p.Tyr461= Single submitter hereditary multiple osteochondromas
  • p.Tyr616= Single submitter hereditary multiple osteochondromas
  • p.Tyr629= Single submitter hereditary multiple osteochondromas
  • p.Val155= Single submitter hereditary multiple osteochondromas
  • p.Val207= Single submitter hereditary multiple osteochondromas
  • p.Val379= Single submitter hereditary multiple osteochondromas
  • p.Val423= Single submitter hereditary multiple osteochondromas
  • p.Val487= Single submitter hereditary multiple osteochondromas
  • p.Val515= Single submitter hereditary multiple osteochondromas
  • p.Val537= Single submitter hereditary multiple osteochondromas
  • p.Val538Ile Single submitter hereditary multiple osteochondromas
  • p.Val545= Single submitter hereditary multiple osteochondromas
  • p.Val561= Single submitter
  • p.Val661= Single submitter hereditary multiple osteochondromas
  • p.Val672= Single submitter hereditary multiple osteochondromas
  • p.Val733= Single submitter hereditary multiple osteochondromas
  • p.Leu348= No assertion criteria EXT1-related disorder

Uncertain significance 395

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