EXT2 — 992 ClinVar variants

All ClinVar germline EXT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 397 flagged for review →

162 Pathogenic · 9 Pathogenic/Likely pathogenic · 49 Likely pathogenic · 54 Conflicting · 46 Benign · 22 Benign/Likely benign · 237 Likely benign · 413 Uncertain significance

Full EXT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 397

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.

EXT2 p.Thr219Ala Likely pathogenic Single submitter
ovarian cancer

Predictors agree, ClinVar conflicts 30

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

EXT2 p.Ala202Val Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Arg166His Conflicting Single submitter
ovarian cancer
EXT2 p.Arg250Trp Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Arg322His Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Arg393Gln Conflicting Single submitter
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Arg417Gln Conflicting Single submitter
Inborn genetic diseases
EXT2 p.Arg417Trp Conflicting Single submitter
Inborn genetic diseases
EXT2 p.Arg95Cys Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Asn148Ser Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Asn288Ser Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Asn415Ser Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Asp139Asn Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Asp307Asn Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Asp561His Conflicting Single submitter
Inborn genetic diseases
EXT2 p.Cys286Tyr Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Glu51Lys Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Glu576Lys Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.His48Leu Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Ile32Val Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Ile376Val Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Met174Leu Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Pro247Gln Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Pro341Leu Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Pro496Leu Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Ser375Gly Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Ser4Leu Conflicting Single submitter
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Thr587Met Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Thr639Met Conflicting Single submitter
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Val512Leu Conflicting Single submitter
Inborn genetic diseases
EXT2 p.Val638Ile Conflicting Single submitter
exostoses, multiple, type 2

Predicted LoF vs a conflicting call 4

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.

EXT2 c.1305+2T>C Conflicting Single submitter
exostoses, multiple, type 2
EXT2 c.1935+1G>T Conflicting Single submitter
exostoses, multiple, type 2
EXT2 c.743+1_743+2dup Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Arg465Ter Conflicting Single submitter
exostoses, multiple, type 2

Predictors lean, ClinVar uncertain 241

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 241

EXT2 p.Ala13Thr Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Ala175Pro Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Ala409Gly Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Ala458Thr Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Ala630Pro Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Arg10Gln Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Arg10Trp Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg17Lys Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg182Gln Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg223Trp Uncertain significance Multiple submitters
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Arg23Gln Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Arg299Cys Uncertain significance Multiple submitters
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Arg325Trp Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg465Gln Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Arg522Cys Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg557Trp Uncertain significance Multiple submitters
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Arg562Gly Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg562Trp Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg64His Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Arg695Gln Uncertain significance Multiple submitters
EXT2 p.Arg80Gln Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Asn495Ser Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Asn618Lys Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Asp333Asn Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Asp499Asn Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Asp74Asn Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Cys318Tyr Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Cys339Ser Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Gln382Arg Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Glu132Gln Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Glu278Lys Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Glu528Lys Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Glu79Gly Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Gly11Ser Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Gly327Arg Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Ile126Val Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Ile344Met Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Ile505Met Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Ile50Val Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Ile644Thr Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Leu212Phe Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Leu350Trp Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Leu709Gln Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Lys103Glu Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Lys302Asn Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Met631Thr Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Phe395Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Pro247Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Pro420Leu Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Ser234Ile Uncertain significance Multiple submitters
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Ser347Cys Uncertain significance Multiple submitters
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Ser591Pro Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Thr287Asn Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Thr89Met Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Trp396Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Trp396Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Trp429Gly Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Trp489Ser Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Tyr222Cys Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Tyr233Cys Uncertain significance Multiple submitters
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Tyr348Cys Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Tyr7Cys Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Val282Ile Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Val296Asp Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Val330Ile Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Val340Asp Uncertain significance Multiple submitters
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Val340Ile Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Val479Glu Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Val488Ile Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Val593Leu Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Val69Ile Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Ala150Asp Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Ala173Val Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ala337Pro Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Ala392Asp Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ala398Thr Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ala398Val Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ala409Val Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ala434Val Uncertain significance Single submitter
EXT2 p.Ala515Ser Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ala630Val Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Ala681Pro Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ala73Val Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg166Cys Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg209Lys Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg322Cys Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg417Pro Uncertain significance Single submitter
EXT2 p.Arg471Trp Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg513Lys Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg522His Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg569Cys Uncertain significance Single submitter
EXT2 p.Arg569His Uncertain significance Single submitter
EXT2 p.Arg61Leu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg70Thr Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Asn124Ile Uncertain significance Single submitter
EXT2 p.Asn124Ser Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asn185Ser Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Asn190Ile Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Asn200Ser Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asn605Ser Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Asn618Ser Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asn632Asp Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asn637Ser Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asn8Asp Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asn99Ile Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asp139Glu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asp158Gly Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asp198Asn Uncertain significance Single submitter
EXT2 p.Asp227Tyr Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asp284Asn Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asp357Val Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asp431Asn Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asp666Tyr Uncertain significance Single submitter
EXT2 p.Asp697Glu Uncertain significance Single submitter
EXT2 p.Asp74His Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asp92Gly Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Cys151Ser Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Cys286Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Cys626Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Cys626Tyr Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gln258Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gln313Glu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gln384Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gln452Glu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gln454Arg Uncertain significance Single submitter
EXT2 p.Glu354Asp Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Glu59Gly Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Gly214Cys Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gly260Val Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gly277Ala Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gly438Cys Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gly455Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gly685Ala Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gly685Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.His22Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.His301Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.His571Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.His571Pro Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.His575Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.His601Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ile137Thr Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ile424Val Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ile459Val Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ile473Thr Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Ile473Val Uncertain significance Single submitter
EXT2 p.Ile50Thr Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ile537Thr Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Leu212Ser Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Leu254His Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Leu255Pro Uncertain significance Single submitter

Predictors split 121

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

EXT2 p.Ala171Glu Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Ala171Thr Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg128Gln Likely benign Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg149Gln Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg149Trp Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg17Thr Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Arg223Gln Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg250Gln Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg325Gln Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg471Gln Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg61Cys Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Arg80Pro Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Asp141Val Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Asp158Asn Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Asp158Glu Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Asp307His Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Asp464Asn Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Gln310Leu Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Glu589Lys Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Gly214Ser Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Gly216Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Gly327Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Ile157Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Ile385Thr Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Leu242Phe Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Lys641Gln Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Met191Val Uncertain significance Multiple submitters
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Met370Thr Uncertain significance Multiple submitters
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Phe400Leu Benign Multiple submitters
ovarian cancer
EXT2 p.Pro508Ser Uncertain significance Multiple submitters
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Pro67Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Thr164Pro Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Thr89Ala Uncertain significance Multiple submitters
Inborn genetic diseases
EXT2 p.Tyr252Cys Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Val440Glu Uncertain significance Multiple submitters
exostoses, multiple, type 2
EXT2 p.Ala173Thr Uncertain significance Single submitter
EXT2 p.Ala324Val Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ala423Val Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg128Trp Conflicting Single submitter
hereditary multiple osteochondromas
EXT2 p.Arg182Leu Likely benign Single submitter
exostoses, multiple, type 2
EXT2 p.Arg297Cys Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Arg297Gly Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg299Leu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg393Trp Conflicting Single submitter
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Arg506Gln Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg506Trp Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg562Gln Conflicting Single submitter
EXT2-related disorder
EXT2 p.Arg64Cys Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Arg95His Conflicting Single submitter
seizures-scoliosis-macrocephaly syndrome
EXT2 p.Asn190Ser Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asp198Ala Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asp227Glu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asp307Gly Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asp416Glu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Asp82Ala Conflicting Single submitter
Inborn genetic diseases
EXT2 p.Cys96Tyr Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gln313His Uncertain significance Single submitter
EXT2 p.Gln389Glu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gln391Glu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Glu427Lys Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Glu530Lys Conflicting Single submitter
Inborn genetic diseases
EXT2 p.Glu554Asp Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Glu707Gly Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gly292Arg Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Gly662Ala Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Gly662Val Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.His262Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.His623Arg Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.His694Gln Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Ile126Ser Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ile418Thr Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ile459Thr Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Leu254Phe Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Leu272Phe Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Leu350Phe Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Leu408Gln Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Lys478Glu Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Lys510Thr Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Met191Leu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Met191Thr Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Met592Ile Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Met87Arg Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Met87Ile Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Phe253Tyr Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Phe684Leu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Phe98Leu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Pro196Leu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Pro235Leu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Pro351Ala Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Pro381Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Pro432Arg Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Pro432Ser Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Pro433Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Pro450Leu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Pro47His Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Pro47Leu Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Pro480Ser Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Pro496Ala Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ser127Pro Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Ser156Ala Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Ser237Leu Conflicting Single submitter
exostoses, multiple, type 2
EXT2 p.Ser500Cys Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Thr144Ala Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Thr170Ile Likely benign Single submitter
exostoses, multiple, type 2
EXT2 p.Thr219Met Conflicting Single submitter
Inborn genetic diseases
EXT2 p.Thr316Ala Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Trp220Arg Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Trp56Cys Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Tyr222His Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Tyr226Cys Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Tyr421Cys Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Val115Met Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Val205Asp Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Val232Gly Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Val305Phe Uncertain significance Single submitter
Inborn genetic diseases
EXT2 p.Val311Met Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Val319Ala Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Val363Met Conflicting Single submitter
EXT2-related disorder
EXT2 p.Val364Ala Uncertain significance Single submitter
exostoses, multiple, type 2
EXT2 p.Val692Leu Uncertain significance Single submitter
EXT2 p.Val93Ala Uncertain significance Single submitter
exostoses, multiple, type 2

All EXT2 variants

Pathogenic 162

c.1079+1G>A Multiple submitters exostoses, multiple, type 2
c.1079+1G>T Multiple submitters exostoses, multiple, type 2
c.1173+1G>A Multiple submitters EXT2-related disorders
c.536+1G>A Multiple submitters exostoses, multiple, type 2
c.626+1G>A Multiple submitters exostoses, multiple, type 2
c.626+1G>C Multiple submitters exostoses, multiple, type 2
c.626+2_626+5del Multiple submitters exostoses, multiple, type 2
c.627-2A>G Multiple submitters exostoses, multiple, type 2
c.743+1G>A Multiple submitters exostoses, multiple, type 2
c.744-2A>C Multiple submitters EXT2-related disorder
c.939+1G>T Multiple submitters exostoses, multiple, type 2
p.Ala422fs Multiple submitters exostoses, multiple, type 2
p.Arg182Ter Multiple submitters seizures-scoliosis-macrocephaly syndrome
p.Arg23Ter Multiple submitters exostoses, multiple, type 2
p.Asn161fs Multiple submitters exostoses, multiple, type 2
p.Asp227Asn Multiple submitters exostoses, multiple, type 2
p.Asp82fs Multiple submitters exostoses, multiple, type 2
p.Gln172Ter Multiple submitters EXT2-related disorders
p.Gln224Ter Multiple submitters exostoses, multiple, type 2
p.Gln273Ter Multiple submitters exostoses, multiple, type 2
p.Gln313Ter Multiple submitters exostoses, multiple, type 2
p.Gln336Ter Multiple submitters exostoses, multiple, type 2
p.Gln382fs Multiple submitters EXT2-related disorders
p.Gln382Ter Multiple submitters exostoses, multiple, type 2
p.Gln391Ter Multiple submitters exostoses, multiple, type 2
p.Gln401Ter Multiple submitters exostoses, multiple, type 2
p.Gln412Ter Multiple submitters exostoses, multiple, type 2
p.Glu291Ter Multiple submitters exostoses, multiple, type 2
p.Gly277Ter Multiple submitters Inborn genetic diseases
p.His303fs Multiple submitters exostoses, multiple, type 2
p.Met135fs Multiple submitters exostoses, multiple, type 2
p.Ser121fs Multiple submitters exostoses, multiple, type 2
p.Trp180Ter Multiple submitters exostoses, multiple, type 2
p.Trp220Ter Multiple submitters exostoses, multiple, type 2
p.Tyr107Ter Multiple submitters exostoses, multiple, type 2
p.Tyr222Ter Multiple submitters EXT2-related disorders
p.Tyr252Ter Multiple submitters exostoses, multiple, type 2
p.Val154fs Multiple submitters EXT2-related disorder
p.Val68fs Multiple submitters exostoses, multiple, type 2
c.1079+1G>C Single submitter exostoses, multiple, type 2
c.1080-1085_1173+5684delinsGC Single submitter exostoses, multiple, type 2
c.1080-1G>A Single submitter exostoses, multiple, type 2
c.1080-1G>T Single submitter exostoses, multiple, type 2
c.1080-2A>G Single submitter exostoses, multiple, type 2
c.1080-2del Single submitter exostoses, multiple, type 2
c.1173+2T>A Single submitter exostoses, multiple, type 2
c.1174-2A>G Single submitter exostoses, multiple, type 2
c.536+1G>C Single submitter exostoses, multiple, type 2
c.536+1G>T Single submitter exostoses, multiple, type 2
c.537-1G>C Single submitter exostoses, multiple, type 2
c.537-4_561del Single submitter exostoses, multiple, type 2
c.620_626+158del Single submitter exostoses, multiple, type 2
c.626+2T>G Single submitter exostoses, multiple, type 2
c.627-1G>A Single submitter exostoses, multiple, type 2
c.744-1_755del Single submitter exostoses, multiple, type 2
c.744-1G>A Single submitter exostoses, multiple, type 2
c.744-1G>T Single submitter exostoses, multiple, type 2
c.861_1173+5287del Single submitter exostoses, multiple, type 2
c.939+1del Single submitter exostoses, multiple, type 2
c.939+1G>A Single submitter EXT2-related disorders
c.940-2A>G Single submitter exostoses, multiple, type 2
p.Ala150fs Single submitter exostoses, multiple, type 2
p.Ala173fs Single submitter exostoses, multiple, type 2
p.Ala392fs Single submitter exostoses, multiple, type 2
p.Arg128fs Single submitter exostoses, multiple, type 2
p.Arg179fs Single submitter exostoses, multiple, type 2
p.Arg223Pro Single submitter exostoses, multiple, type 2
p.Arg390fs Single submitter exostoses, multiple, type 2
p.Arg86fs Single submitter exostoses, multiple, type 2
p.Asn148fs Single submitter exostoses, multiple, type 2
p.Asn415fs Single submitter exostoses, multiple, type 2
p.Asn495fs Single submitter exostoses, multiple, type 2
p.Asn578fs Single submitter exostoses, multiple, type 2
p.Asn637fs Single submitter exostoses, multiple, type 2
p.Asp116fs Single submitter exostoses, multiple, type 2
p.Asp204fs Single submitter exostoses, multiple, type 2
p.Asp227Gly Single submitter exostoses, multiple, type 2
p.Cys318Arg Single submitter exostoses, multiple, type 2
p.Cys318fs Single submitter exostoses, multiple, type 2
p.Gln162Ter Single submitter
p.Gln176Ter Single submitter exostoses, multiple, type 2
p.Gln251fs Single submitter exostoses, multiple, type 2
p.Gln258Ter Single submitter exostoses, multiple, type 2
p.Gln378Ter Single submitter exostoses, multiple, type 2
p.Gln384Ter Single submitter exostoses, multiple, type 2
p.Gln401fs Single submitter exostoses, multiple, type 2
p.Gln44Ter Single submitter EXT2-related disorder
p.Glu132Ter Single submitter exostoses, multiple, type 2
p.Glu244fs Single submitter exostoses, multiple, type 2
p.Glu291fs Single submitter exostoses, multiple, type 2
p.Glu368fs Single submitter exostoses, multiple, type 2
p.Glu368Ter Single submitter exostoses, multiple, type 2
p.Glu397fs Single submitter exostoses, multiple, type 2
p.Glu530Ter Single submitter EXT2-related disorders
p.Glu59fs Single submitter exostoses, multiple, type 2
p.Gly119fs Single submitter Inborn genetic diseases
p.Gly194Ter Single submitter
p.Gly225fs Single submitter exostoses, multiple, type 2
p.Gly246fs Single submitter exostoses, multiple, type 2
p.Gly260fs Single submitter exostoses, multiple, type 2
p.Gly338fs Single submitter exostoses, multiple, type 2
p.Gly596fs Single submitter exostoses, multiple, type 2
p.His22fs Single submitter exostoses, multiple, type 2
p.His262fs Single submitter exostoses, multiple, type 2
p.His88fs Single submitter exostoses, multiple, type 2
p.Ile157fs Single submitter exostoses, multiple, type 2
p.Ile344fs Single submitter exostoses, multiple, type 2
p.Ile644fs Single submitter exostoses, multiple, type 2
p.Leu133fs Single submitter exostoses, multiple, type 2
p.Leu160fs Single submitter exostoses, multiple, type 2
p.Leu236fs Single submitter exostoses, multiple, type 2
p.Leu261fs Single submitter exostoses, multiple, type 2
p.Leu281fs Single submitter exostoses, multiple, type 2
p.Leu289fs Single submitter exostoses, multiple, type 2
p.Leu321fs Single submitter exostoses, multiple, type 2
p.Leu335fs Single submitter exostoses, multiple, type 2
p.Leu71fs Single submitter exostoses, multiple, type 2
p.Leu83fs Single submitter exostoses, multiple, type 2
p.Lys105fs Single submitter exostoses, multiple, type 2
p.Lys19fs Single submitter
p.Lys298fs Single submitter exostoses, multiple, type 2
p.Met174fs Single submitter exostoses, multiple, type 2
p.Met543fs Single submitter exostoses, multiple, type 2
p.Phe306fs Single submitter exostoses, multiple, type 2
p.Phe30fs Single submitter exostoses, multiple, type 2
p.Phe43_Gln44delinsLeuTer Single submitter exostoses, multiple, type 2
p.Phe604fs Single submitter exostoses, multiple, type 2
p.Pro197fs Single submitter exostoses, multiple, type 2
p.Pro231fs Single submitter EXT2-related disorders
p.Pro351Leu Single submitter exostoses, multiple, type 2
p.Ser218fs Single submitter
p.Ser290Ter Single submitter exostoses, multiple, type 2
p.Ser375fs Single submitter exostoses, multiple, type 2
p.Ser402Ter Single submitter exostoses, multiple, type 2
p.Thr201fs Single submitter exostoses, multiple, type 2
p.Thr287fs Single submitter exostoses, multiple, type 2
p.Thr28fs Single submitter exostoses, multiple, type 2
p.Thr40fs Single submitter exostoses, multiple, type 2
p.Trp358Ter Single submitter exostoses, multiple, type 2
p.Trp394Ter Single submitter
p.Trp396fs Single submitter exostoses, multiple, type 2
p.Trp396Ter Single submitter exostoses, multiple, type 2
p.Trp429Ter Single submitter exostoses, multiple, type 2
p.Tyr114fs Single submitter exostoses, multiple, type 2
p.Tyr142Ter Single submitter exostoses, multiple, type 2
p.Tyr143Ter Single submitter exostoses, multiple, type 2
p.Tyr226Ter Single submitter
p.Tyr233Ter Single submitter exostoses, multiple, type 2
p.Tyr265Ter Single submitter
p.Tyr399Ter Single submitter exostoses, multiple, type 2
p.Tyr419Ter Single submitter exostoses, multiple, type 2
p.Tyr526Ter Single submitter exostoses, multiple, type 2
p.Tyr566Ter Single submitter exostoses, multiple, type 2
p.Tyr608Ter Single submitter exostoses, multiple, type 2
p.Tyr94Ter Single submitter exostoses, multiple, type 2
p.Val106fs Single submitter exostoses, multiple, type 2
p.Val305fs Single submitter exostoses, multiple, type 2
p.Val319fs Single submitter exostoses, multiple, type 2
p.Val342fs Single submitter exostoses, multiple, type 2
c.1305+1G>A No assertion criteria exostoses, multiple, type 2
p.Lys302fs No assertion criteria EXT2-related disorder
p.Pro243fs No assertion criteria exostoses, multiple, type 2

Pathogenic/Likely pathogenic 9

c.626+1G>T Multiple submitters exostoses, multiple, type 2
c.940-2A>T Multiple submitters exostoses, multiple, type 2
p.Arg649Ter Multiple submitters seizures-scoliosis-macrocephaly syndrome
p.Cys339Tyr Multiple submitters exostoses, multiple, type 2
p.Gln310Ter Multiple submitters exostoses, multiple, type 2
p.Gln389Ter Multiple submitters exostoses, multiple, type 2
p.Ser138Ter Multiple submitters exostoses, multiple, type 2
p.Trp580Ter Multiple submitters exostoses, multiple, type 2
p.Tyr348Ter Multiple submitters EXT2-related disorders

Likely pathogenic 49

c.1662+1G>C Multiple submitters exostoses, multiple, type 2
p.Gln391Lys Multiple submitters ovarian cancer
p.Val593fs Multiple submitters exostoses, multiple, type 2
c.1489_1495+12del Single submitter exostoses, multiple, type 2
c.1495+1G>A Single submitter
c.1496-1G>C Single submitter exostoses, multiple, type 2
c.1663-1G>A Single submitter exostoses, multiple, type 2
c.1807-2A>G Single submitter exostoses, multiple, type 2
c.626+2T>C Single submitter exostoses, multiple, type 2
c.743+1del Single submitter EXT2-related disorders
c.744-2A>G Single submitter exostoses, multiple, type 2
c.939+2T>C Single submitter seizures-scoliosis-macrocephaly syndrome
p.Arg223fs Single submitter
p.Arg266Ter Single submitter EXT2-related disorders
p.Arg80fs Single submitter exostoses, multiple, type 2
p.Asp139fs Single submitter exostoses, multiple, type 2
p.Asp227Val Single submitter exostoses, multiple, type 2
p.Asp357_Trp358insTer Single submitter exostoses, multiple, type 2
p.Gln304fs Single submitter exostoses, multiple, type 2
p.Gln391= Single submitter seizures-scoliosis-macrocephaly syndrome
p.Glu129Ter Single submitter EXT2-related disorder
p.Glu278Ter Single submitter exostoses, multiple, type 2
p.Glu387fs Single submitter EXT2-related disorders
p.Gly215fs Single submitter EXT2-related disorders
p.His669Tyr Single submitter ovarian cancer
p.Ile32fs Single submitter
p.Leu133Arg Single submitter exostoses, multiple, type 2
p.Leu152Arg Single submitter EXT2-related disorders
p.Leu177_Ser178insTer Single submitter EXT2-related disorders
p.Leu203fs Single submitter EXT2-related disorders
p.Lys168Ter Single submitter EXT2-related disorders
p.Ser156fs Single submitter exostoses, multiple, type 2
p.Ser256Ter Single submitter EXT2-related disorder
p.Ser279Ter Single submitter EXT2-related disorders
p.Thr219Ala Single submitter ovarian cancer ⚠
p.Trp394fs Single submitter
p.Trp46Ter Single submitter
p.Trp502Ter Single submitter seizures-scoliosis-macrocephaly syndrome
p.Trp556Ter Single submitter exostoses, multiple, type 2
p.Trp56Ter Single submitter exostoses, multiple, type 2
p.Trp573Ter Single submitter EXT2-related disorder
p.Trp586Ter Single submitter exostoses, multiple, type 2
p.Tyr114Ter Single submitter exostoses, multiple, type 2
p.Tyr222del Single submitter exostoses, multiple, type 2
p.Tyr603Ter Single submitter exostoses, multiple, type 2
p.Tyr608Cys Single submitter exostoses, multiple, type 2
p.Val466fs Single submitter exostoses, multiple, type 2
p.Val511_Val512insTer Single submitter exostoses, multiple, type 2
p.Leu152Pro No assertion criteria exostoses, multiple, type 2

Conflicting classifications of pathogenicity 54

c.1305+2T>C Single submitter exostoses, multiple, type 2 ⚠
c.1306-7C>G Single submitter exostoses, multiple, type 2
c.1935+1G>T Single submitter exostoses, multiple, type 2 ⚠
c.743+1_743+2dup Single submitter exostoses, multiple, type 2 ⚠
p.Ala202Val Single submitter exostoses, multiple, type 2 ⚠
p.Arg128Trp Single submitter hereditary multiple osteochondromas ⚠
p.Arg166His Single submitter ovarian cancer ⚠
p.Arg179= Single submitter exostoses, multiple, type 2
p.Arg250Trp Single submitter exostoses, multiple, type 2 ⚠
p.Arg297Cys Single submitter exostoses, multiple, type 2 ⚠
p.Arg322His Single submitter exostoses, multiple, type 2 ⚠
p.Arg393Gln Single submitter seizures-scoliosis-macrocephaly syndrome ⚠
p.Arg393Trp Single submitter seizures-scoliosis-macrocephaly syndrome ⚠
p.Arg417Gln Single submitter Inborn genetic diseases ⚠
p.Arg417Trp Single submitter Inborn genetic diseases ⚠
p.Arg465Ter Single submitter exostoses, multiple, type 2 ⚠
p.Arg562Gln Single submitter EXT2-related disorder ⚠
p.Arg80Trp Single submitter exostoses, multiple, type 2
p.Arg95Cys Single submitter exostoses, multiple, type 2 ⚠
p.Arg95His Single submitter seizures-scoliosis-macrocephaly syndrome ⚠
p.Asn148Ser Single submitter exostoses, multiple, type 2 ⚠
p.Asn185_His186del Single submitter exostoses, multiple, type 2
p.Asn288Ser Single submitter exostoses, multiple, type 2 ⚠
p.Asn415Ser Single submitter exostoses, multiple, type 2 ⚠
p.Asn678del Single submitter exostoses, multiple, type 2
p.Asp139Asn Single submitter exostoses, multiple, type 2 ⚠
p.Asp307Asn Single submitter exostoses, multiple, type 2 ⚠
p.Asp561His Single submitter Inborn genetic diseases ⚠
p.Asp82Ala Single submitter Inborn genetic diseases ⚠
p.Cys286Tyr Single submitter exostoses, multiple, type 2 ⚠
p.Glu51Lys Single submitter exostoses, multiple, type 2 ⚠
p.Glu530Lys Single submitter Inborn genetic diseases ⚠
p.Glu576Lys Single submitter exostoses, multiple, type 2 ⚠
p.His48Leu Single submitter exostoses, multiple, type 2 ⚠
p.Ile32Val Single submitter exostoses, multiple, type 2 ⚠
p.Ile376Val Single submitter exostoses, multiple, type 2 ⚠
p.Leu254Phe Single submitter exostoses, multiple, type 2 ⚠
p.Leu486= Single submitter exostoses, multiple, type 2
p.Leu549= Single submitter exostoses, multiple, type 2
p.Met174Leu Single submitter exostoses, multiple, type 2 ⚠
p.Met87Arg Single submitter exostoses, multiple, type 2 ⚠
p.Pro247Gln Single submitter exostoses, multiple, type 2 ⚠
p.Pro341Leu Single submitter exostoses, multiple, type 2 ⚠
p.Pro496Leu Single submitter exostoses, multiple, type 2 ⚠
p.Ser237Leu Single submitter exostoses, multiple, type 2 ⚠
p.Ser375Gly Single submitter exostoses, multiple, type 2 ⚠
p.Ser4Leu Single submitter seizures-scoliosis-macrocephaly syndrome ⚠
p.Thr219Met Single submitter Inborn genetic diseases ⚠
p.Thr587Met Single submitter exostoses, multiple, type 2 ⚠
p.Thr639Met Single submitter seizures-scoliosis-macrocephaly syndrome ⚠
p.Val363Met Single submitter EXT2-related disorder ⚠
p.Val512Leu Single submitter Inborn genetic diseases ⚠
p.Val638Ile Single submitter exostoses, multiple, type 2 ⚠
p.Val66= Single submitter exostoses, multiple, type 2

Benign 46

c.1080-115G>T Multiple submitters
c.1080-138T>C Multiple submitters
c.1080-18T>A Multiple submitters exostoses, multiple, type 1
c.1174-18G>T Multiple submitters exostoses, multiple, type 1
c.1305+126T>C Multiple submitters
c.1306-93C>T Multiple submitters
c.1807-51T>C Multiple submitters exostoses, multiple, type 2
c.1936-41T>C Multiple submitters exostoses, multiple, type 2
c.1936-66G>C Multiple submitters
c.2019-14T>C Multiple submitters exostoses, multiple, type 2
c.537-79A>C Multiple submitters
c.743+143C>T Multiple submitters
c.744-82A>G Multiple submitters
c.744-82A>T Multiple submitters
c.-30-147A>T Multiple submitters
c.-31+22G>A Multiple submitters
c.-31+42A>G Multiple submitters
c.-31+496T>G Multiple submitters
c.-311G>A Multiple submitters exostoses, multiple, type 2
c.-331T>C Multiple submitters exostoses, multiple, type 2
c.-61C>G Multiple submitters exostoses, multiple, type 2
p.Arg10= Multiple submitters exostoses, multiple, type 1
p.Asp547= Multiple submitters exostoses, multiple, type 2
p.Met370Ile Multiple submitters exostoses, multiple, type 2
p.Phe400Leu Multiple submitters ovarian cancer ⚠
c.1174-270C>A Single submitter
c.1496-109G>A Single submitter
c.1496-195C>T Single submitter
c.1663-500G>C Single submitter
c.1663-566A>G Single submitter
c.1806+10C>T Single submitter exostoses, multiple, type 2
c.536+132G>C Single submitter
c.627-187T>A Single submitter
c.744-10dup Single submitter exostoses, multiple, type 2
c.744-83_744-82insG Single submitter
c.939+30G>A Single submitter
c.-148G>A Single submitter exostoses, multiple, type 2
c.-31+465A>G Single submitter ovarian cancer
c.*3C>T Single submitter exostoses, multiple, type 2
c.*472C>T Single submitter exostoses, multiple, type 2
c.*646C>T Single submitter exostoses, multiple, type 2
c.*795C>A Single submitter exostoses, multiple, type 2
c.*802A>G Single submitter exostoses, multiple, type 2
p.Arg297His Single submitter exostoses, multiple, type 2
p.Glu368Lys Single submitter
p.Lys518= Single submitter exostoses, multiple, type 2

Benign/Likely benign 22

c.1080-16T>G Multiple submitters exostoses, multiple, type 2
c.1663-16A>G Multiple submitters exostoses, multiple, type 2
c.1806+11G>A Multiple submitters exostoses, multiple, type 2
c.1806+9del Multiple submitters exostoses, multiple, type 2
c.744-10T>G Multiple submitters exostoses, multiple, type 2
c.940-18C>G Multiple submitters exostoses, multiple, type 2
c.-31+474G>A Multiple submitters
c.*56G>A Multiple submitters exostoses, multiple, type 2
p.Ala173= Multiple submitters exostoses, multiple, type 2
p.Arg299His Multiple submitters exostoses, multiple, type 2
p.Asp333= Multiple submitters exostoses, multiple, type 1
p.Cys339= Multiple submitters seizures-scoliosis-macrocephaly syndrome
p.Glu475= Multiple submitters exostoses, multiple, type 2
p.His88= Multiple submitters exostoses, multiple, type 1
p.Ile50= Multiple submitters exostoses, multiple, type 2
p.Met42Val Multiple submitters exostoses, multiple, type 1
p.Phe306= Multiple submitters exostoses, multiple, type 1
p.Pro341= Multiple submitters exostoses, multiple, type 2
p.Pro67= Multiple submitters exostoses, multiple, type 2
p.Ser332= Multiple submitters exostoses, multiple, type 2
p.Thr587= Multiple submitters exostoses, multiple, type 1
p.Val120Ile Multiple submitters exostoses, multiple, type 2

Likely benign 237

c.1080-6C>T Multiple submitters exostoses, multiple, type 2
c.1173+18G>A Multiple submitters exostoses, multiple, type 2
c.1305+12C>G Multiple submitters exostoses, multiple, type 2
c.1305+14A>G Multiple submitters exostoses, multiple, type 2
c.1305+254G>C Multiple submitters
c.1806+11G>T Multiple submitters exostoses, multiple, type 2
c.1935+11C>G Multiple submitters exostoses, multiple, type 2
c.743+10A>C Multiple submitters exostoses, multiple, type 2
c.*101G>C Multiple submitters exostoses, multiple, type 2
p.Ala3Val Multiple submitters exostoses, multiple, type 2
p.Arg128Gln Multiple submitters exostoses, multiple, type 2 ⚠
p.Asn148= Multiple submitters exostoses, multiple, type 2
p.Ile376= Multiple submitters exostoses, multiple, type 2
p.Ile403Thr Multiple submitters exostoses, multiple, type 1
p.Ile715Val Multiple submitters exostoses, multiple, type 2
p.Leu281= Multiple submitters exostoses, multiple, type 2
p.Leu283= Multiple submitters exostoses, multiple, type 2
p.Pro447= Multiple submitters exostoses, multiple, type 2
p.Val440Met Multiple submitters exostoses, multiple, type 2
p.Val671= Multiple submitters exostoses, multiple, type 2
c.1079+13T>C Single submitter exostoses, multiple, type 2
c.1079+17A>G Single submitter exostoses, multiple, type 2
c.1080-11G>A Single submitter exostoses, multiple, type 2
c.1080-13C>A Single submitter exostoses, multiple, type 2
c.1080-14G>A Single submitter exostoses, multiple, type 2
c.1173+17T>A Single submitter exostoses, multiple, type 2
c.1173+8G>A Single submitter exostoses, multiple, type 2
c.1173+9C>T Single submitter exostoses, multiple, type 2
c.1174-14T>A Single submitter exostoses, multiple, type 2
c.1174-19A>G Single submitter exostoses, multiple, type 2
c.1306-13T>C Single submitter exostoses, multiple, type 2
c.1306-14C>A Single submitter exostoses, multiple, type 2
c.1306-14C>T Single submitter exostoses, multiple, type 2
c.1306-8T>C Single submitter exostoses, multiple, type 2
c.1495+12T>C Single submitter exostoses, multiple, type 2
c.1495+137G>A Single submitter
c.1495+7dup Single submitter exostoses, multiple, type 2
c.1495+9C>G Single submitter exostoses, multiple, type 2
c.1496-10C>G Single submitter exostoses, multiple, type 2
c.1496-17C>A Single submitter exostoses, multiple, type 2
c.1496-204_1496-195del Single submitter
c.1496-209del Single submitter
c.1496-20T>C Single submitter exostoses, multiple, type 2
c.1496-7T>C Single submitter exostoses, multiple, type 2
c.1662+17_1662+18del Single submitter exostoses, multiple, type 2
c.1662+18A>G Single submitter exostoses, multiple, type 2
c.1662+20T>C Single submitter exostoses, multiple, type 2
c.1663-14G>A Single submitter exostoses, multiple, type 2
c.1806+13A>G Single submitter exostoses, multiple, type 2
c.1806+16C>A Single submitter exostoses, multiple, type 2
c.1806+9G>T Single submitter exostoses, multiple, type 2
c.1807-14G>A Single submitter exostoses, multiple, type 2
c.1935+19C>T Single submitter exostoses, multiple, type 2
c.1936-10C>T Single submitter exostoses, multiple, type 2
c.1936-12C>T Single submitter exostoses, multiple, type 2
c.1936-134GT[10] Single submitter
c.1936-14T>C Single submitter exostoses, multiple, type 2
c.1936-179C>T Single submitter
c.1936-20T>A Single submitter exostoses, multiple, type 2
c.2018+17C>A Single submitter exostoses, multiple, type 2
c.2018+17C>T Single submitter exostoses, multiple, type 2
c.2019-7C>T Single submitter exostoses, multiple, type 2
c.536+10A>T Single submitter exostoses, multiple, type 2
c.536+14A>G Single submitter exostoses, multiple, type 2
c.536+15T>A Single submitter exostoses, multiple, type 2
c.536+17C>A Single submitter exostoses, multiple, type 2
c.536+17C>T Single submitter exostoses, multiple, type 2
c.536+19G>C Single submitter exostoses, multiple, type 2
c.536+20C>G Single submitter exostoses, multiple, type 2
c.536+7C>G Single submitter exostoses, multiple, type 2
c.536+9C>T Single submitter
c.537-15T>G Single submitter exostoses, multiple, type 2
c.537-19A>G Single submitter exostoses, multiple, type 2
c.626+14T>C Single submitter exostoses, multiple, type 2
c.626+15T>C Single submitter exostoses, multiple, type 2
c.626+19G>A Single submitter exostoses, multiple, type 2
c.626+20C>T Single submitter exostoses, multiple, type 2
c.626+262C>G Single submitter
c.626+7G>A Single submitter exostoses, multiple, type 2
c.627-18A>G Single submitter exostoses, multiple, type 2
c.743+9C>T Single submitter exostoses, multiple, type 2
c.744-11T>A Single submitter exostoses, multiple, type 2
c.744-12T>C Single submitter exostoses, multiple, type 2
c.744-20C>T Single submitter exostoses, multiple, type 2
c.744-8C>T Single submitter exostoses, multiple, type 2
c.939+11T>C Single submitter exostoses, multiple, type 2
c.939+14A>C Single submitter exostoses, multiple, type 2
c.939+19C>G Single submitter exostoses, multiple, type 2
c.940-13del Single submitter exostoses, multiple, type 2
c.940-14T>G Single submitter exostoses, multiple, type 2
c.940-15T>C Single submitter exostoses, multiple, type 2
c.940-203A>G Single submitter
c.940-79A>C Single submitter
c.940-9T>C Single submitter exostoses, multiple, type 2
c.-30-80A>C Single submitter
c.-31+106C>T Single submitter
c.-31+383C>G Single submitter
c.-31+657G>A Single submitter
c.*10T>C Single submitter
c.*129C>G Single submitter exostoses, multiple, type 2
c.*139C>G Single submitter exostoses, multiple, type 2
c.*4G>A Single submitter
p.Ala136= Single submitter exostoses, multiple, type 2
p.Ala3= Single submitter exostoses, multiple, type 2
p.Ala361= Single submitter exostoses, multiple, type 2
p.Ala39= Single submitter exostoses, multiple, type 2
p.Ala398= Single submitter exostoses, multiple, type 2
p.Ala407= Single submitter exostoses, multiple, type 2
p.Ala536= Single submitter exostoses, multiple, type 2
p.Ala642= Single submitter
p.Ala73= Single submitter exostoses, multiple, type 2
p.Arg182Leu Single submitter exostoses, multiple, type 2 ⚠
p.Arg223= Single submitter exostoses, multiple, type 2
p.Arg23= Single submitter exostoses, multiple, type 2
p.Arg266= Single submitter exostoses, multiple, type 2
p.Arg383= Single submitter exostoses, multiple, type 2
p.Arg506= Single submitter exostoses, multiple, type 2
p.Arg557= Single submitter exostoses, multiple, type 2
p.Arg61His Single submitter exostoses, multiple, type 2
p.Arg64= Single submitter exostoses, multiple, type 2
p.Arg70= Single submitter exostoses, multiple, type 2
p.Asn102= Single submitter exostoses, multiple, type 2
p.Asn131= Single submitter exostoses, multiple, type 2
p.Asn190= Single submitter exostoses, multiple, type 2
p.Asn588= Single submitter exostoses, multiple, type 2
p.Asn637= Single submitter exostoses, multiple, type 2
p.Asp139= Single submitter exostoses, multiple, type 2
p.Asp141= Single submitter exostoses, multiple, type 2
p.Asp464= Single submitter exostoses, multiple, type 2
p.Asp540= Single submitter
p.Asp561= Single submitter exostoses, multiple, type 2
p.Asp621= Single submitter exostoses, multiple, type 2
p.Asp697= Single submitter exostoses, multiple, type 2
p.Asp82= Single submitter exostoses, multiple, type 2
p.Cys676= Single submitter exostoses, multiple, type 2
p.Gln172= Single submitter exostoses, multiple, type 2
p.Gln251= Single submitter exostoses, multiple, type 2
p.Gln336= Single submitter exostoses, multiple, type 2
p.Gln389= Single submitter exostoses, multiple, type 2
p.Glu239= Single submitter exostoses, multiple, type 2
p.Glu314= Single submitter exostoses, multiple, type 2
p.Glu548Lys Single submitter exostoses, multiple, type 2
p.Gly11= Single submitter exostoses, multiple, type 2
p.Gly119= Single submitter exostoses, multiple, type 2
p.Gly215= Single submitter exostoses, multiple, type 2
p.Gly225= Single submitter exostoses, multiple, type 2
p.Gly323= Single submitter exostoses, multiple, type 2
p.Gly568= Single submitter exostoses, multiple, type 2
p.Gly596= Single submitter
p.His262= Single submitter exostoses, multiple, type 2
p.His601= Single submitter exostoses, multiple, type 2
p.Ile24= Single submitter exostoses, multiple, type 2
p.Ile529= Single submitter exostoses, multiple, type 2
p.Ile542= Single submitter exostoses, multiple, type 2
p.Leu152= Single submitter exostoses, multiple, type 2
p.Leu165= Single submitter exostoses, multiple, type 2
p.Leu177= Single submitter
p.Leu187= Single submitter exostoses, multiple, type 2
p.Leu212= Single submitter exostoses, multiple, type 2
p.Leu312= Single submitter exostoses, multiple, type 2
p.Leu335= Single submitter exostoses, multiple, type 2
p.Leu37= Single submitter exostoses, multiple, type 2
p.Leu411= Single submitter exostoses, multiple, type 2
p.Leu446= Single submitter exostoses, multiple, type 2
p.Leu448= Single submitter exostoses, multiple, type 2
p.Leu469= Single submitter exostoses, multiple, type 2
p.Leu482= Single submitter exostoses, multiple, type 2
p.Leu509= Single submitter exostoses, multiple, type 2
p.Leu570= Single submitter exostoses, multiple, type 2
p.Leu572= Single submitter exostoses, multiple, type 2
p.Leu594= Single submitter exostoses, multiple, type 2
p.Leu634= Single submitter exostoses, multiple, type 2
p.Leu700= Single submitter exostoses, multiple, type 2
p.Leu71= Single submitter exostoses, multiple, type 2
p.Lys105= Single submitter exostoses, multiple, type 2
p.Lys359= Single submitter exostoses, multiple, type 2
p.Lys436= Single submitter exostoses, multiple, type 2
p.Lys581= Single submitter exostoses, multiple, type 2
p.Lys6= Single submitter exostoses, multiple, type 2
p.Lys60= Single submitter exostoses, multiple, type 2
p.Lys653= Single submitter exostoses, multiple, type 2
p.Lys710= Single submitter exostoses, multiple, type 2
p.Phe317= Single submitter exostoses, multiple, type 2
p.Phe352= Single submitter exostoses, multiple, type 2
p.Phe445= Single submitter exostoses, multiple, type 2
p.Phe684= Single submitter exostoses, multiple, type 2
p.Phe712= Single submitter exostoses, multiple, type 2
p.Pro196= Single submitter exostoses, multiple, type 2
p.Pro206= Single submitter exostoses, multiple, type 2
p.Pro235= Single submitter exostoses, multiple, type 2
p.Pro243Arg Single submitter exostoses, multiple, type 2
p.Pro381= Single submitter exostoses, multiple, type 2
p.Pro450= Single submitter exostoses, multiple, type 2
p.Pro480= Single submitter exostoses, multiple, type 2
p.Pro508= Single submitter exostoses, multiple, type 2
p.Pro525= Single submitter exostoses, multiple, type 2
p.Pro567= Single submitter exostoses, multiple, type 2
p.Ser178= Single submitter exostoses, multiple, type 2
p.Ser229= Single submitter exostoses, multiple, type 2
p.Ser31= Single submitter exostoses, multiple, type 2
p.Ser4= Single submitter exostoses, multiple, type 2
p.Ser483= Single submitter exostoses, multiple, type 2
p.Ser49= Single submitter exostoses, multiple, type 2
p.Ser52= Single submitter
p.Ser584= Single submitter exostoses, multiple, type 2
p.Ser591= Single submitter exostoses, multiple, type 2
p.Ser682= Single submitter exostoses, multiple, type 2
p.Ser717= Single submitter exostoses, multiple, type 2
p.Ser84= Single submitter exostoses, multiple, type 2
p.Thr170Ile Single submitter exostoses, multiple, type 2 ⚠
p.Thr184= Single submitter exostoses, multiple, type 2
p.Thr219= Single submitter exostoses, multiple, type 2
p.Thr28= Single submitter exostoses, multiple, type 2
p.Thr457= Single submitter exostoses, multiple, type 2
p.Thr639= Single submitter exostoses, multiple, type 2
p.Thr647= Single submitter exostoses, multiple, type 2
p.Thr658= Single submitter exostoses, multiple, type 2
p.Thr89= Single submitter exostoses, multiple, type 2
p.Trp394Gly Single submitter exostoses, multiple, type 2
p.Tyr107= Single submitter exostoses, multiple, type 2
p.Tyr114= Single submitter exostoses, multiple, type 2
p.Tyr226= Single submitter exostoses, multiple, type 2
p.Tyr233= Single submitter exostoses, multiple, type 2
p.Tyr348= Single submitter exostoses, multiple, type 2
p.Tyr426Cys Single submitter exostoses, multiple, type 2
p.Tyr463= Single submitter exostoses, multiple, type 2
p.Tyr701= Single submitter exostoses, multiple, type 2
p.Val240= Single submitter exostoses, multiple, type 2
p.Val334= Single submitter exostoses, multiple, type 2
p.Val342= Single submitter exostoses, multiple, type 2
p.Val487= Single submitter exostoses, multiple, type 2
p.Val507Ile Single submitter exostoses, multiple, type 2
p.Val620= Single submitter exostoses, multiple, type 2
c.1173+14171G>T No assertion criteria EXT2-related disorder
p.His186= No assertion criteria EXT2-related disorder
p.Met135Thr No assertion criteria
p.Thr474= No assertion criteria EXT2-related disorder

Uncertain significance 413

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

c.1079+5G>A Multiple submitters hereditary multiple osteochondromas
c.2019-2del Multiple submitters exostoses, multiple, type 2
c.626+3A>C Multiple submitters exostoses, multiple, type 2
c.-26G>T Multiple submitters exostoses, multiple, type 2
p.Ala13Thr Multiple submitters exostoses, multiple, type 2 ⚠
p.Ala171Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala171Thr Multiple submitters exostoses, multiple, type 2 ⚠
p.Ala175Pro Multiple submitters exostoses, multiple, type 2 ⚠
p.Ala409Gly Multiple submitters exostoses, multiple, type 2 ⚠
p.Ala458Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala630Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg10Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg10Trp Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg149Gln Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg149Trp Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg17Lys Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg17Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg182Gln Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg223Gln Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg223Trp Multiple submitters seizures-scoliosis-macrocephaly syndrome ⚠
p.Arg23Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg250Gln Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg299Cys Multiple submitters seizures-scoliosis-macrocephaly syndrome ⚠
p.Arg325Gln Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg325Trp Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg465Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg471Gln Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg522Cys Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg557Trp Multiple submitters seizures-scoliosis-macrocephaly syndrome ⚠
p.Arg562Gly Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg562Trp Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg61Cys Multiple submitters exostoses, multiple, type 2 ⚠
p.Arg64His Multiple submitters Inborn genetic diseases ⚠
p.Arg695Gln Multiple submitters ⚠
p.Arg695Ter Multiple submitters exostoses, multiple, type 2
p.Arg80Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg80Pro Multiple submitters Inborn genetic diseases ⚠
p.Asn163Tyr Multiple submitters Inborn genetic diseases
p.Asn495Ser Multiple submitters exostoses, multiple, type 2 ⚠
p.Asn618Lys Multiple submitters exostoses, multiple, type 2 ⚠
p.Asp141Val Multiple submitters exostoses, multiple, type 2 ⚠
p.Asp158Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp158Glu Multiple submitters exostoses, multiple, type 2 ⚠
p.Asp307His Multiple submitters exostoses, multiple, type 2 ⚠
p.Asp333Asn Multiple submitters exostoses, multiple, type 2 ⚠
p.Asp464Asn Multiple submitters exostoses, multiple, type 2 ⚠
p.Asp499Asn Multiple submitters exostoses, multiple, type 2 ⚠
p.Asp74Asn Multiple submitters exostoses, multiple, type 2 ⚠
p.Cys318Tyr Multiple submitters exostoses, multiple, type 2 ⚠
p.Cys339Ser Multiple submitters exostoses, multiple, type 2 ⚠
p.Gln310Leu Multiple submitters exostoses, multiple, type 2 ⚠
p.Gln382Arg Multiple submitters exostoses, multiple, type 2 ⚠
p.Glu132Gln Multiple submitters exostoses, multiple, type 2 ⚠
p.Glu278Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu528Lys Multiple submitters exostoses, multiple, type 2 ⚠
p.Glu589Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu79Gly Multiple submitters exostoses, multiple, type 2 ⚠
p.Gly11Ser Multiple submitters exostoses, multiple, type 2 ⚠
p.Gly214Ser Multiple submitters exostoses, multiple, type 2 ⚠
p.Gly216Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly327Arg Multiple submitters exostoses, multiple, type 2 ⚠
p.Gly327Ser Multiple submitters Inborn genetic diseases ⚠
p.His303_Gln304insArgHisLysHis Multiple submitters exostoses, multiple, type 2
p.Ile126Val Multiple submitters exostoses, multiple, type 2 ⚠
p.Ile157Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile344Met Multiple submitters exostoses, multiple, type 2 ⚠
p.Ile385Thr Multiple submitters exostoses, multiple, type 2 ⚠
p.Ile505Met Multiple submitters exostoses, multiple, type 2 ⚠
p.Ile50Val Multiple submitters exostoses, multiple, type 2 ⚠
p.Ile644Thr Multiple submitters exostoses, multiple, type 2 ⚠
p.Leu212Phe Multiple submitters exostoses, multiple, type 2 ⚠
p.Leu242Phe Multiple submitters exostoses, multiple, type 2 ⚠
p.Leu350Trp Multiple submitters exostoses, multiple, type 2 ⚠
p.Leu709Gln Multiple submitters exostoses, multiple, type 2 ⚠
p.Lys103Glu Multiple submitters exostoses, multiple, type 2 ⚠
p.Lys302Asn Multiple submitters exostoses, multiple, type 2 ⚠
p.Lys641Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys645= Multiple submitters seizures-scoliosis-macrocephaly syndrome
p.Met191Val Multiple submitters seizures-scoliosis-macrocephaly syndrome ⚠
p.Met370Thr Multiple submitters seizures-scoliosis-macrocephaly syndrome ⚠
p.Met631Thr Multiple submitters exostoses, multiple, type 2 ⚠
p.Phe253Leu Multiple submitters Inborn genetic diseases
p.Phe395Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe633Ser Multiple submitters exostoses, multiple, type 2
p.Pro247Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro420Leu Multiple submitters exostoses, multiple, type 2 ⚠
p.Pro508Ser Multiple submitters seizures-scoliosis-macrocephaly syndrome ⚠
p.Pro67Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser234Ile Multiple submitters seizures-scoliosis-macrocephaly syndrome ⚠
p.Ser347Cys Multiple submitters seizures-scoliosis-macrocephaly syndrome ⚠
p.Ser591Pro Multiple submitters exostoses, multiple, type 2 ⚠
p.Thr164Pro Multiple submitters exostoses, multiple, type 2 ⚠
p.Thr287Asn Multiple submitters exostoses, multiple, type 2 ⚠
p.Thr89Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr89Met Multiple submitters exostoses, multiple, type 2 ⚠
p.Trp396Leu Multiple submitters Inborn genetic diseases ⚠
p.Trp396Ser Multiple submitters Inborn genetic diseases ⚠
p.Trp429Gly Multiple submitters exostoses, multiple, type 2 ⚠
p.Trp489Ser Multiple submitters exostoses, multiple, type 2 ⚠
p.Tyr222Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr233Cys Multiple submitters seizures-scoliosis-macrocephaly syndrome ⚠
p.Tyr252Cys Multiple submitters exostoses, multiple, type 2 ⚠
p.Tyr348Cys Multiple submitters exostoses, multiple, type 2 ⚠
p.Tyr7Cys Multiple submitters exostoses, multiple, type 2 ⚠
p.Val282Ile Multiple submitters exostoses, multiple, type 2 ⚠
p.Val296Asp Multiple submitters exostoses, multiple, type 2 ⚠
p.Val330Ile Multiple submitters exostoses, multiple, type 2 ⚠
p.Val340Asp Multiple submitters seizures-scoliosis-macrocephaly syndrome ⚠
p.Val340Ile Multiple submitters exostoses, multiple, type 2 ⚠
p.Val440Glu Multiple submitters exostoses, multiple, type 2 ⚠
p.Val479Glu Multiple submitters exostoses, multiple, type 2 ⚠
p.Val488Ile Multiple submitters Inborn genetic diseases ⚠
p.Val593Leu Multiple submitters exostoses, multiple, type 2 ⚠
p.Val69Ile Multiple submitters exostoses, multiple, type 2 ⚠
c.1173+14154C>T Single submitter
c.1173+14175T>C Single submitter
c.1173+14177G>A Single submitter
c.1662+4A>C Single submitter exostoses, multiple, type 2
c.1806+3A>C Single submitter exostoses, multiple, type 2
c.1806+5G>C Single submitter exostoses, multiple, type 2
c.1935+3A>C Single submitter exostoses, multiple, type 2
c.2019-2A>G Single submitter exostoses, multiple, type 2
c.626+6_626+8del Single submitter exostoses, multiple, type 2
c.626+6A>T Single submitter exostoses, multiple, type 2
c.627-17A>G Single submitter exostoses, multiple, type 2
c.744-16T>G Single submitter exostoses, multiple, type 2
c.744-6T>A Single submitter exostoses, multiple, type 2
c.-242G>T Single submitter exostoses, multiple, type 2
c.-30-10T>A Single submitter hereditary multiple osteochondromas
c.-307G>T Single submitter exostoses, multiple, type 2
c.-31+446C>A Single submitter exostoses, multiple, type 2
c.-31+449T>C Single submitter exostoses, multiple, type 2
c.-31+453A>G Single submitter exostoses, multiple, type 2
c.-31+459C>A Single submitter exostoses, multiple, type 2
c.-45G>T Single submitter exostoses, multiple, type 2
c.*1153A>T Single submitter exostoses, multiple, type 2
c.*339C>T Single submitter exostoses, multiple, type 2
c.*368C>T Single submitter exostoses, multiple, type 2
c.*381T>C Single submitter exostoses, multiple, type 2
c.*440A>G Single submitter exostoses, multiple, type 2
c.*672G>C Single submitter exostoses, multiple, type 2
c.*731A>G Single submitter exostoses, multiple, type 2
c.*838T>G Single submitter exostoses, multiple, type 2
c.*862T>G Single submitter exostoses, multiple, type 2
c.*882G>T Single submitter exostoses, multiple, type 2
c.*93G>A Single submitter exostoses, multiple, type 2
c.*945G>A Single submitter exostoses, multiple, type 2
p.Ala150Asp Single submitter Inborn genetic diseases ⚠
p.Ala173Thr Single submitter ⚠
p.Ala173Val Single submitter exostoses, multiple, type 2 ⚠
p.Ala324Val Single submitter exostoses, multiple, type 2 ⚠
p.Ala337Pro Single submitter Inborn genetic diseases ⚠
p.Ala392Asp Single submitter exostoses, multiple, type 2 ⚠
p.Ala398Thr Single submitter exostoses, multiple, type 2 ⚠
p.Ala398Val Single submitter exostoses, multiple, type 2 ⚠
p.Ala409Val Single submitter exostoses, multiple, type 2 ⚠
p.Ala423Val Single submitter exostoses, multiple, type 2 ⚠
p.Ala434Val Single submitter ⚠
p.Ala515Ser Single submitter exostoses, multiple, type 2 ⚠
p.Ala630Val Single submitter Inborn genetic diseases ⚠
p.Ala642Thr Single submitter exostoses, multiple, type 2
p.Ala681Pro Single submitter exostoses, multiple, type 2 ⚠
p.Ala73Val Single submitter exostoses, multiple, type 2 ⚠
p.Arg166Cys Single submitter exostoses, multiple, type 2 ⚠
p.Arg209Lys Single submitter exostoses, multiple, type 2 ⚠
p.Arg297Gly Single submitter exostoses, multiple, type 2 ⚠
p.Arg299Leu Single submitter exostoses, multiple, type 2 ⚠
p.Arg322Cys Single submitter exostoses, multiple, type 2 ⚠
p.Arg417Pro Single submitter ⚠
p.Arg471Trp Single submitter exostoses, multiple, type 2 ⚠
p.Arg506Gln Single submitter exostoses, multiple, type 2 ⚠
p.Arg506Trp Single submitter exostoses, multiple, type 2 ⚠
p.Arg513Lys Single submitter exostoses, multiple, type 2 ⚠
p.Arg522His Single submitter exostoses, multiple, type 2 ⚠
p.Arg569Cys Single submitter ⚠
p.Arg569His Single submitter ⚠
p.Arg61Leu Single submitter exostoses, multiple, type 2 ⚠
p.Arg64Cys Single submitter exostoses, multiple, type 2 ⚠
p.Arg70Thr Single submitter Inborn genetic diseases ⚠
p.Asn124Ile Single submitter ⚠
p.Asn124Ser Single submitter exostoses, multiple, type 2 ⚠
p.Asn185Ser Single submitter Inborn genetic diseases ⚠
p.Asn190Ile Single submitter Inborn genetic diseases ⚠
p.Asn190Ser Single submitter exostoses, multiple, type 2 ⚠
p.Asn200Ser Single submitter exostoses, multiple, type 2 ⚠
p.Asn605Ser Single submitter Inborn genetic diseases ⚠
p.Asn618Ser Single submitter exostoses, multiple, type 2 ⚠
p.Asn632Asp Single submitter exostoses, multiple, type 2 ⚠
p.Asn637Ser Single submitter exostoses, multiple, type 2 ⚠
p.Asn8Asp Single submitter exostoses, multiple, type 2 ⚠
p.Asn99Ile Single submitter exostoses, multiple, type 2 ⚠
p.Asp139Glu Single submitter exostoses, multiple, type 2 ⚠
p.Asp158Gly Single submitter exostoses, multiple, type 2 ⚠
p.Asp198Ala Single submitter exostoses, multiple, type 2 ⚠
p.Asp198Asn Single submitter ⚠
p.Asp227Glu Single submitter exostoses, multiple, type 2 ⚠
p.Asp227Tyr Single submitter exostoses, multiple, type 2 ⚠
p.Asp284Asn Single submitter exostoses, multiple, type 2 ⚠
p.Asp307Gly Single submitter exostoses, multiple, type 2 ⚠
p.Asp357Val Single submitter exostoses, multiple, type 2 ⚠
p.Asp416Glu Single submitter exostoses, multiple, type 2 ⚠
p.Asp431Asn Single submitter exostoses, multiple, type 2 ⚠
p.Asp666Tyr Single submitter ⚠
p.Asp697Glu Single submitter ⚠
p.Asp74His Single submitter exostoses, multiple, type 2 ⚠
p.Asp92Gly Single submitter exostoses, multiple, type 2 ⚠
p.Cys151Ser Single submitter Inborn genetic diseases ⚠
p.Cys286Arg Single submitter exostoses, multiple, type 2 ⚠
p.Cys626Arg Single submitter exostoses, multiple, type 2 ⚠
p.Cys626Tyr Single submitter exostoses, multiple, type 2 ⚠
p.Cys96Tyr Single submitter exostoses, multiple, type 2 ⚠
p.Gln258Arg Single submitter exostoses, multiple, type 2 ⚠
p.Gln313Glu Single submitter exostoses, multiple, type 2 ⚠
p.Gln313His Single submitter ⚠
p.Gln384Arg Single submitter exostoses, multiple, type 2 ⚠
p.Gln389Glu Single submitter exostoses, multiple, type 2 ⚠
p.Gln391Glu Single submitter exostoses, multiple, type 2 ⚠
p.Gln452Glu Single submitter exostoses, multiple, type 2 ⚠
p.Gln454Arg Single submitter ⚠
p.Gln667Arg Single submitter exostoses, multiple, type 2
p.Glu354Asp Single submitter Inborn genetic diseases ⚠
p.Glu427Lys Single submitter exostoses, multiple, type 2 ⚠
p.Glu554Asp Single submitter exostoses, multiple, type 2 ⚠
p.Glu59Gly Single submitter Inborn genetic diseases ⚠
p.Glu707Gly Single submitter exostoses, multiple, type 2 ⚠
p.Gly214Cys Single submitter exostoses, multiple, type 2 ⚠
p.Gly260Val Single submitter exostoses, multiple, type 2 ⚠
p.Gly277Ala Single submitter exostoses, multiple, type 2 ⚠
p.Gly292Arg Single submitter Inborn genetic diseases ⚠
p.Gly36Cys Single submitter exostoses, multiple, type 2
p.Gly438Cys Single submitter exostoses, multiple, type 2 ⚠
p.Gly455Arg Single submitter exostoses, multiple, type 2 ⚠
p.Gly662Ala Single submitter exostoses, multiple, type 2 ⚠
p.Gly662Val Single submitter exostoses, multiple, type 2 ⚠
p.Gly685Ala Single submitter exostoses, multiple, type 2 ⚠
p.Gly685Arg Single submitter exostoses, multiple, type 2 ⚠
p.His22Arg Single submitter exostoses, multiple, type 2 ⚠
p.His262Arg Single submitter exostoses, multiple, type 2 ⚠
p.His301Arg Single submitter exostoses, multiple, type 2 ⚠
p.His571Arg Single submitter exostoses, multiple, type 2 ⚠
p.His571Pro Single submitter exostoses, multiple, type 2 ⚠
p.His575Arg Single submitter exostoses, multiple, type 2 ⚠
p.His601Arg Single submitter exostoses, multiple, type 2 ⚠
p.His601Pro Single submitter exostoses, multiple, type 2
p.His623Arg Single submitter Inborn genetic diseases ⚠
p.His694Gln Single submitter Inborn genetic diseases ⚠
p.Ile126Ser Single submitter exostoses, multiple, type 2 ⚠
p.Ile137Thr Single submitter exostoses, multiple, type 2 ⚠
p.Ile157= Single submitter exostoses, multiple, type 2
p.Ile414= Single submitter exostoses, multiple, type 2
p.Ile418Thr Single submitter exostoses, multiple, type 2 ⚠
p.Ile424Val Single submitter exostoses, multiple, type 2 ⚠
p.Ile459Thr Single submitter exostoses, multiple, type 2 ⚠
p.Ile459Val Single submitter exostoses, multiple, type 2 ⚠
p.Ile473Thr Single submitter Inborn genetic diseases ⚠
p.Ile473Val Single submitter ⚠
p.Ile50Thr Single submitter exostoses, multiple, type 2 ⚠
p.Ile537Thr Single submitter exostoses, multiple, type 2 ⚠
p.Ile660fs Single submitter exostoses, multiple, type 2
p.Leu177Ile Single submitter exostoses, multiple, type 2
p.Leu188del Single submitter exostoses, multiple, type 2
p.Leu212Ser Single submitter Inborn genetic diseases ⚠
p.Leu254His Single submitter exostoses, multiple, type 2 ⚠
p.Leu255Pro Single submitter ⚠
p.Leu269= Single submitter exostoses, multiple, type 2
p.Leu272Phe Single submitter exostoses, multiple, type 2 ⚠
p.Leu331Ser Single submitter Inborn genetic diseases ⚠
p.Leu335_Gln336insLeu Single submitter exostoses, multiple, type 2
p.Leu350Phe Single submitter exostoses, multiple, type 2 ⚠
p.Leu356Phe Single submitter exostoses, multiple, type 2 ⚠
p.Leu37Phe Single submitter ⚠
p.Leu408Gln Single submitter exostoses, multiple, type 2 ⚠
p.Leu408Pro Single submitter exostoses, multiple, type 2 ⚠
p.Leu411Arg Single submitter Inborn genetic diseases ⚠
p.Leu411del Single submitter exostoses, multiple, type 2
p.Leu444Phe Single submitter exostoses, multiple, type 2
p.Leu485Pro Single submitter exostoses, multiple, type 2 ⚠
p.Leu486His Single submitter ⚠
p.Leu549Pro Single submitter exostoses, multiple, type 2 ⚠
p.Lys101Asn Single submitter exostoses, multiple, type 2
p.Lys103Thr Single submitter exostoses, multiple, type 2 ⚠
p.Lys112Arg Single submitter exostoses, multiple, type 2 ⚠
p.Lys112Thr Single submitter exostoses, multiple, type 2 ⚠
p.Lys168Glu Single submitter exostoses, multiple, type 2 ⚠
p.Lys19Arg Single submitter Inborn genetic diseases ⚠
p.Lys21Glu Single submitter exostoses, multiple, type 2 ⚠
p.Lys404Ile Single submitter exostoses, multiple, type 2 ⚠
p.Lys436Arg Single submitter ⚠
p.Lys436Asn Single submitter exostoses, multiple, type 2 ⚠
p.Lys478Glu Single submitter Inborn genetic diseases ⚠
p.Lys494Glu Single submitter Inborn genetic diseases ⚠
p.Lys510Thr Single submitter Inborn genetic diseases ⚠
p.Lys653Arg Single submitter exostoses, multiple, type 2 ⚠
p.Met135Val Single submitter Inborn genetic diseases ⚠
p.Met174Lys Single submitter exostoses, multiple, type 2 ⚠
p.Met191Leu Single submitter exostoses, multiple, type 2 ⚠
p.Met191Thr Single submitter exostoses, multiple, type 2 ⚠
p.Met1del Single submitter exostoses, multiple, type 2
p.Met577Ile Single submitter exostoses, multiple, type 2 ⚠
p.Met592Ile Single submitter exostoses, multiple, type 2 ⚠