ACAN — 1679 ClinVar variants

All ClinVar germline ACAN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 906 flagged for review →

125 Pathogenic · 8 Pathogenic/Likely pathogenic · 70 Likely pathogenic · 44 Conflicting · 118 Benign · 39 Benign/Likely benign · 369 Likely benign · 906 Uncertain significance

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

⚑ Evidence disagreements 906

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ACAN p.Gly756Arg Likely pathogenic Single submitter
ACAN p.Val1380Phe Pathogenic No assertion criteria
spondyloepimetaphyseal dysplasia, aggrecan type

Predictors agree, ClinVar conflicts 20

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

ACAN p.Ala1194Thr Conflicting Single submitter
Inborn genetic diseases
ACAN p.Ala67Thr Conflicting Single submitter
ACAN p.Arg173Gln Conflicting Single submitter
Inborn genetic diseases
ACAN p.Arg2384His Conflicting Single submitter
Inborn genetic diseases
ACAN p.Arg2387Gln Conflicting Single submitter
Inborn genetic diseases
ACAN p.Arg2511Trp Conflicting Single submitter
ACAN p.Arg305Cys Conflicting Single submitter
osteochondritis dissecans
ACAN p.Arg556Trp Conflicting Single submitter
Inborn genetic diseases
ACAN p.Arg675Gln Conflicting Single submitter
Inborn genetic diseases
ACAN p.Asp24Glu Conflicting Single submitter
Inborn genetic diseases
ACAN p.Asp304Asn Conflicting Single submitter
ACAN p.Glu1447Asp Conflicting Single submitter
ACAN p.His2533Arg Conflicting Single submitter
Inborn genetic diseases
ACAN p.Ile235Phe Conflicting Single submitter
Inborn genetic diseases
ACAN p.Leu1773Pro Conflicting Single submitter
ACAN p.Leu754Pro Conflicting Single submitter
Inborn genetic diseases
ACAN p.Pro185Thr Conflicting Single submitter
ACAN p.Tyr2370His Conflicting Single submitter
ACAN p.Val2397Ile Conflicting Single submitter
Inborn genetic diseases
ACAN p.Val372Ile Conflicting Single submitter
Inborn genetic diseases

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.

ACAN p.Tyr2504Ter Conflicting Single submitter
ACAN-related disorder

Predictors lean, ClinVar uncertain 445

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 445

ACAN p.Ala171Val Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, aggrecan type
ACAN p.Ala174Val Uncertain significance Multiple submitters
ACAN p.Ala2163Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ala2191Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ala2278Val Uncertain significance Multiple submitters
ACAN p.Ala248Thr Uncertain significance Multiple submitters
Growth failure in early childhood
ACAN p.Ala299Asp Uncertain significance Multiple submitters
ACAN p.Ala346Thr Uncertain significance Multiple submitters
Monogenic short statue
ACAN p.Ala455Thr Uncertain significance Multiple submitters
ACAN p.Ala455Val Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ala499Asp Uncertain significance Multiple submitters
ACAN p.Ala505Val Uncertain significance Multiple submitters
ACAN-related disorder
ACAN p.Ala728Thr Uncertain significance Multiple submitters
ACAN p.Arg236Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg2385Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg2427His Uncertain significance Multiple submitters
Growth failure in early childhood
ACAN p.Arg2549His Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg279Gln Uncertain significance Multiple submitters
spondyloepiphyseal dysplasia, Kimberley type
ACAN p.Arg305His Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg315Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg343Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg394Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg483Cys Uncertain significance Multiple submitters
osteochondritis dissecans
ACAN p.Arg556Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg561His Uncertain significance Multiple submitters
ACAN p.Asn271Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Asn27Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Asp1371Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Asp167Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Asp223Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Cys246Arg Uncertain significance Multiple submitters
ACAN p.Cys2470Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gln2355Glu Uncertain significance Multiple submitters
ACAN p.Gln2443Lys Uncertain significance Multiple submitters
osteochondritis dissecans
ACAN p.Gln471Lys Uncertain significance Multiple submitters
ACAN p.Glu134Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu1993Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu2461Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu249Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu250Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu252Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu431Val Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gly129Glu Uncertain significance Multiple submitters
short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
ACAN p.Gly138Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gly152Ser Uncertain significance Multiple submitters
short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
ACAN p.Gly2245Arg Uncertain significance Multiple submitters
ACAN-related disorder
ACAN p.Gly300Ser Uncertain significance Multiple submitters
ACAN p.Gly365Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gly451Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gly470Arg Uncertain significance Multiple submitters
ACAN p.Gly689Asp Uncertain significance Multiple submitters
ACAN p.His1978Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.His331Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.His670Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ile2217Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ile729Val Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ile73Val Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Leu399Phe Uncertain significance Multiple submitters
ACAN-related disorder
ACAN p.Leu529Pro Uncertain significance Multiple submitters
ACAN p.Leu817Pro Uncertain significance Multiple submitters
ACAN p.Lys2072Glu Uncertain significance Multiple submitters
Monogenic short statue
ACAN p.Lys80Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Met2434Val Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Pro2488Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Pro484Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Pro753Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ser540Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr165Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr1888Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr208Ile Uncertain significance Multiple submitters
ACAN p.Thr2255Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr2296Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr2398Pro Uncertain significance Multiple submitters
ACAN p.Thr335Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr376Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr503Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr543Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr740Ser Uncertain significance Multiple submitters
ACAN p.Thr985Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val120Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val209Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val2300Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val307Met Uncertain significance Multiple submitters
short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
ACAN p.Val401Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val462Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val462Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val468Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val650Met Uncertain significance Multiple submitters
Meniere disease
ACAN p.Val680Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val714Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val84Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val88Met Uncertain significance Multiple submitters
spondyloepiphyseal dysplasia, Kimberley type
ACAN p.Ala1118Thr Uncertain significance Single submitter
ACAN p.Ala116Pro Uncertain significance Single submitter
ACAN p.Ala1672Gly Uncertain significance Single submitter
osteochondritis dissecans
ACAN p.Ala16Val Uncertain significance Single submitter
ACAN p.Ala1719Val Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Ala171Thr Uncertain significance Single submitter
ACAN p.Ala17Val Uncertain significance Single submitter
ACAN p.Ala1921Val Uncertain significance Single submitter
ACAN p.Ala1967Val Uncertain significance Single submitter
ACAN p.Ala201Thr Uncertain significance Single submitter
ACAN p.Ala2028Thr Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Ala2105Thr Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Ala2230Ser Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Ala2264Pro Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Ala2276Thr Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Ala2280Thr Uncertain significance Single submitter
ACAN p.Ala2450Thr Uncertain significance Single submitter
ACAN p.Ala248Pro Uncertain significance Single submitter
ACAN p.Ala281Val Uncertain significance Single submitter
ACAN p.Ala314Asp Uncertain significance Single submitter
ACAN p.Ala430Pro Uncertain significance Single submitter
ACAN p.Ala430Ser Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Ala430Thr Uncertain significance Single submitter
ACAN p.Ala453Ser Uncertain significance Single submitter
ACAN p.Ala467Ser Uncertain significance Single submitter
ACAN p.Ala467Thr Uncertain significance Single submitter
ACAN p.Ala496Thr Uncertain significance Single submitter
ACAN p.Ala508Val Uncertain significance Single submitter
ACAN p.Ala526Thr Uncertain significance Single submitter
ACAN p.Ala594Thr Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Ala613Thr Uncertain significance Single submitter
ACAN p.Ala63Pro Uncertain significance Single submitter
ACAN p.Ala63Thr Uncertain significance Single submitter
ACAN p.Ala679Val Uncertain significance Single submitter
ACAN p.Ala67Val Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Ala711Pro Uncertain significance Single submitter
ACAN p.Ala837Pro Uncertain significance Single submitter
ACAN p.Arg124His Uncertain significance Single submitter
ACAN p.Arg132Leu Uncertain significance Single submitter
ACAN p.Arg163Cys Uncertain significance Single submitter
ACAN p.Arg210Gly Uncertain significance Single submitter
ACAN p.Arg217Gln Uncertain significance Single submitter
ACAN p.Arg217Trp Uncertain significance Single submitter
ACAN p.Arg2371Cys Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Arg2387Gly Uncertain significance Single submitter
ACAN p.Arg2440His Uncertain significance Single submitter
ACAN p.Arg2503Leu Uncertain significance Single submitter
ACAN p.Arg2521Cys Uncertain significance Single submitter
ACAN p.Arg2557Gln Uncertain significance Single submitter
ACAN p.Arg2557Pro Uncertain significance Single submitter
ACAN p.Arg2561Gly Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Arg2563His Uncertain significance Single submitter
ACAN p.Arg274Gln Uncertain significance Single submitter
ACAN p.Arg305Gly Uncertain significance Single submitter
ACAN p.Arg308His Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Arg326Ser Uncertain significance Single submitter
ACAN p.Arg386Gln Uncertain significance Single submitter
ACAN p.Arg40Lys Uncertain significance Single submitter

Predictors split 438

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 438

ACAN p.Ala1404Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ala190Thr Uncertain significance Multiple submitters
ACAN p.Ala191Val Uncertain significance Multiple submitters
ACAN p.Ala2278Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ala2409Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ala299Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ala583Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ala614Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ala628Thr Benign Multiple submitters
spondyloepiphyseal dysplasia, Kimberley type
ACAN p.Arg132His Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg2371His Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg2385Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg2427Cys Uncertain significance Multiple submitters
ACAN p.Arg2440Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg2503Gln Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, aggrecan type
ACAN p.Arg2503Trp Uncertain significance Multiple submitters
osteochondritis dissecans
ACAN p.Arg2511Gln Uncertain significance Multiple submitters
ACAN p.Arg2560Trp Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, aggrecan type
ACAN p.Arg2563Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg343His Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg502Cys Benign Multiple submitters
ACAN p.Arg530Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg585His Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg633His Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg668Gln Benign/Likely benign Multiple submitters
ACAN p.Arg668Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg77Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Arg95Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Asn108Lys Uncertain significance Multiple submitters
ACAN p.Asn2418Lys Uncertain significance Multiple submitters
ACAN p.Asp1390Glu Benign/Likely benign Multiple submitters
spondyloepiphyseal dysplasia, Kimberley type
ACAN p.Asp2411Glu Benign/Likely benign Multiple submitters
spondyloepimetaphyseal dysplasia, aggrecan type
ACAN p.Asp339Asn Uncertain significance Multiple submitters
osteochondritis dissecans
ACAN p.Asp55Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gln497Leu Benign Multiple submitters
ACAN p.Gln523Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gln659Arg Uncertain significance Multiple submitters
ACAN p.Glu1002Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu140Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu1446Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu2311Lys Uncertain significance Multiple submitters
ACAN p.Glu2423Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu2423Lys Uncertain significance Multiple submitters
short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
ACAN p.Glu416Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu433Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu495Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu587Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu735Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Glu828Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gly1547Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gly1582Glu Uncertain significance Multiple submitters
osteochondritis dissecans
ACAN p.Gly1615Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gly1990Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gly2151Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gly2289Val Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gly2451Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gly2498Arg Uncertain significance Multiple submitters
ACAN p.Gly477Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Gly504Trp Uncertain significance Multiple submitters
ACAN p.Gly520Ser Uncertain significance Multiple submitters
ACAN p.Gly994Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ile181Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Leu1509Phe Likely benign Multiple submitters
spondyloepiphyseal dysplasia, Kimberley type
ACAN p.Leu461Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Leu655Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Leu662Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Phe456Leu Benign/Likely benign Multiple submitters
short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
ACAN p.Phe732Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Pro1570Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Pro338Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Pro841Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ser161Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ser1716Ile Benign Multiple submitters
ACAN p.Ser1790Thr Likely benign Multiple submitters
ACAN p.Ser1856Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ser2005Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ser2029Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ser2120Arg Benign/Likely benign Multiple submitters
ACAN p.Ser509Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ser65Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ser930Ile Benign Multiple submitters
osteochondritis dissecans
ACAN p.Ser939Thr Benign Multiple submitters
osteochondritis dissecans
ACAN p.Thr1003Ser Uncertain significance Multiple submitters
Monogenic short statue
ACAN p.Thr184Met Uncertain significance Multiple submitters
ACAN p.Thr2038Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr2103Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr2232Met Uncertain significance Multiple submitters
ACAN p.Thr374Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr440Ile Uncertain significance Multiple submitters
ACAN p.Thr454Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr604Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr652Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Thr718Lys Uncertain significance Multiple submitters
osteochondritis dissecans
ACAN p.Tyr521Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val149Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val1934Leu Benign Multiple submitters
ACAN p.Val2042Met Likely benign Multiple submitters
skeletal dysplasia
ACAN p.Val328Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val397Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val465Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val478Phe Uncertain significance Multiple submitters
ACAN p.Val479Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val534Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Val94Met Uncertain significance Multiple submitters
ACAN p.Val9Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACAN p.Ala1213Ser Likely benign Single submitter
ACAN p.Ala1232Thr Conflicting Single submitter
Inborn genetic diseases
ACAN p.Ala1271Val Uncertain significance Single submitter
ACAN p.Ala1365Thr Uncertain significance Single submitter
ACAN p.Ala1366Ser Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Ala144Ser Uncertain significance Single submitter
ACAN p.Ala190Val Uncertain significance Single submitter
ACAN p.Ala1971Gly Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Ala2409Asp Uncertain significance Single submitter
ACAN p.Ala2409Val Uncertain significance Single submitter
ACAN p.Ala519Thr Uncertain significance Single submitter
ACAN p.Ala603Thr Uncertain significance Single submitter
ACAN p.Ala606Gly Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, aggrecan type
ACAN p.Ala63Asp Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, aggrecan type
ACAN p.Ala837Asp Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Ala948Pro Uncertain significance Single submitter
ACAN p.Ala948Val Likely benign Single submitter
ACAN p.Arg124Cys Uncertain significance Single submitter
ACAN p.Arg173Trp Uncertain significance Single submitter
ACAN p.Arg2228Cys Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Arg2270Cys Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Arg2376Cys Uncertain significance Single submitter
ACAN p.Arg2376His Uncertain significance Single submitter
ACAN p.Arg2387Trp Uncertain significance Single submitter
ACAN p.Arg2521His Uncertain significance Single submitter
ACAN p.Arg2527Gln Uncertain significance Single submitter
ACAN p.Arg2549Cys Uncertain significance Single submitter
ACAN p.Arg2554Gln Conflicting Single submitter
Inborn genetic diseases
ACAN p.Arg2554Trp Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Arg2557Trp Uncertain significance Single submitter
ACAN p.Arg274Trp Conflicting Single submitter
Inborn genetic diseases
ACAN p.Arg279Trp Uncertain significance Single submitter
ACAN p.Arg483His Conflicting Single submitter
ACAN p.Arg488His Uncertain significance Single submitter
ACAN p.Arg502Pro Uncertain significance Single submitter
ACAN p.Arg542Gln Uncertain significance Single submitter
ACAN p.Arg585Cys Uncertain significance Single submitter
ACAN p.Arg640Ser Uncertain significance Single submitter
ACAN p.Arg640Thr Uncertain significance Single submitter
ACAN p.Arg651Gly Uncertain significance Single submitter
ACAN p.Arg651Lys Uncertain significance Single submitter
Inborn genetic diseases
ACAN p.Arg668Leu Uncertain significance Single submitter
ACAN p.Arg675Leu Uncertain significance Single submitter
ACAN p.Arg77His Conflicting Single submitter
osteochondritis dissecans
ACAN p.Arg93Cys Conflicting Single submitter
Inborn genetic diseases

All ACAN variants

Pathogenic 125

c.630-13G>A Multiple submitters
p.Arg236Ter Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Arg394Ter Multiple submitters ACAN-related disorder
p.Gln291Ter Multiple submitters ACAN-related short stature spectrum
p.Gln659Ter Multiple submitters
p.Glu254Ter Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Glu518fs Multiple submitters osteochondritis dissecans
p.Gly366_Glu367insTer Multiple submitters spondyloepiphyseal dysplasia, Kimberley type
p.Gly391fs Multiple submitters
p.Ser410fs Multiple submitters Inborn genetic diseases
p.Ser509fs Multiple submitters Inborn genetic diseases
p.Trp290fs Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Trp6Ter Multiple submitters
p.Tyr164Ter Multiple submitters osteochondritis dissecans
c.1429+1G>C Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
c.1605-2A>C Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Ala2449fs Single submitter
p.Ala505fs Single submitter spondyloepiphyseal dysplasia
p.Arg315fs Single submitter
p.Arg535Ter Single submitter
p.Arg668fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Asn108fs Single submitter Monogenic short statue
p.Asp1585fs Single submitter Inborn genetic diseases
p.Asp865fs Single submitter ACAN-related disorder
p.Cys2470Ter Single submitter
p.Cys2485Ter Single submitter
p.Cys318Ter Single submitter
p.Cys545Ter Single submitter
p.Cys598Tyr Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Cys643Ter Single submitter
p.Gln101Ter Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Gln121Ter Single submitter Inborn genetic diseases
p.Gln1618fs Single submitter ACAN-related disorder
p.Gln189Ter Single submitter
p.Gln2366Ter Single submitter
p.Gln2390fs Single submitter
p.Gln2402Ter Single submitter ACAN-related disorder
p.Gln2435Ter Single submitter
p.Gln2443Ter Single submitter Inborn genetic diseases
p.Gln35fs Single submitter
p.Gln373Ter Single submitter
p.Gln471Ter Single submitter
p.Gln523Ter Single submitter
p.Gln704fs Single submitter Monogenic short statue
p.Glu1699fs Single submitter Inborn genetic diseases
p.Glu2017Ter Single submitter osteochondritis dissecans
p.Glu2043Ter Single submitter Inborn genetic diseases
p.Glu2297fs Single submitter Inborn genetic diseases
p.Glu2461Ter Single submitter
p.Glu352fs Single submitter
p.Glu415Ter Single submitter
p.Glu577fs Single submitter
p.Glu737Ter Single submitter
p.Glu915fs Single submitter Inborn genetic diseases
p.Gly1393fs Single submitter Inborn genetic diseases
p.Gly1615fs Single submitter osteochondritis dissecans
p.Gly1682fs Single submitter
p.Gly1955fs Single submitter
p.Gly1990_Leu1991insTer Single submitter
p.Gly2307fs Single submitter
p.Gly520fs Single submitter
p.Gly998fs Single submitter Monogenic short statue
p.His197fs Single submitter
p.Ile424fs Single submitter ACAN-related disorder
p.Leu118Ter Single submitter
p.Leu11fs Single submitter
p.Leu1606Ter Single submitter Inborn genetic diseases
p.Leu450fs Single submitter
p.Lys2462fs Single submitter
p.Lys74Ter Single submitter
p.Phe1780fs Single submitter Inborn genetic diseases
p.Phe1831fs Single submitter Inborn genetic diseases
p.Phe362fs Single submitter
p.Pro2306fs Single submitter
p.Pro639fs Single submitter
p.Pro748fs Single submitter
p.Ser1396fs Single submitter
p.Ser1492fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Ser1644fs Single submitter spondyloepiphyseal dysplasia, Kimberley type
p.Ser2391Ter Single submitter
p.Ser341Ter Single submitter
p.Ser693Ter Single submitter
p.Thr2179fs Single submitter
p.Thr2253fs Single submitter short stature-advanced bone age-early-onset osteoarthritis syndrome
p.Thr2398fs Single submitter
p.Thr487fs Single submitter
p.Thr543fs Single submitter
p.Trp2362Ter Single submitter
p.Trp2439Ter Single submitter
p.Trp301Ter Single submitter
p.Trp615Ter Single submitter
p.Trp626Ter Single submitter
p.Trp761fs Single submitter
p.Tyr131fs Single submitter
p.Tyr131Ter Single submitter
p.Tyr192Ter Single submitter Inborn genetic diseases
p.Tyr211Ter Single submitter
p.Tyr2365Ter Single submitter
p.Tyr329Ter Single submitter
p.Tyr344Ter Single submitter
p.Tyr521fs Single submitter
p.Tyr536Ter Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Val148fs Single submitter
p.Val230fs Single submitter
p.Val2405fs Single submitter
p.Val2455Met Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Val432fs Single submitter
p.Val478fs Single submitter
p.Val705fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Val749fs Single submitter
p.Val848fs Single submitter Inborn genetic diseases
c.2026+1G>A No assertion criteria Short stature and advanced bone age
p.Arg93fs No assertion criteria Short stature and advanced bone age
p.Asp629fs No assertion criteria osteochondritis dissecans
p.Gln1798fs No assertion criteria Short stature and advanced bone age
p.Gln2227Ter No assertion criteria short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Gln512Ter No assertion criteria short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Glu1553Ter No assertion criteria Short stature and advanced bone age, with early-onset osteoarthritis
p.Gly1254fs No assertion criteria spondyloepiphyseal dysplasia, Kimberley type
p.Leu2393Pro No assertion criteria short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Lys621Ter No assertion criteria osteochondritis dissecans
p.Phe582fs No assertion criteria Short stature and advanced bone age
p.Ser1687Arg No assertion criteria spondyloepimetaphyseal dysplasia, aggrecan type ⚠
p.Trp75Arg No assertion criteria Short stature and advanced bone age, with early-onset osteoarthritis
p.Val1380Phe No assertion criteria spondyloepimetaphyseal dysplasia, aggrecan type ⚠

Pathogenic/Likely pathogenic 8

c.7302+1G>A Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Arg386Ter Multiple submitters
p.Arg675Ter Multiple submitters spondyloepiphyseal dysplasia, Kimberley type
p.Cys2304Ter Multiple submitters ACAN-related disorder
p.Thr259fs Multiple submitters
p.Trp377Ter Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Tyr517Ter Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Glu1847Ter No assertion criteria

Likely pathogenic 70

c.1733-2A>G Multiple submitters spondyloepiphyseal dysplasia, Kimberley type
p.Asp2419Asn Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
c.1051+1G>A Single submitter
c.1429+1G>T Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
c.1732+1G>T Single submitter
c.1733-1G>C Single submitter
c.2266+1G>T Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
c.455-3_457del Single submitter
c.630-2A>C Single submitter
c.6946+1G>T Single submitter spondyloepiphyseal dysplasia
c.757+1G>A Single submitter ACAN-related disorder
c.757+2T>C Single submitter
c.758-1G>A Single submitter
p.Ala2277fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Ala863fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Arg173fs Single submitter ACAN-related disorder
p.Asp206delinsGlyTer Single submitter osteochondritis dissecans
p.Asp953fs Single submitter spondyloepiphyseal dysplasia, Kimberley type
p.Cys2331Ter Single submitter spondyloepiphyseal dysplasia, Kimberley type
p.Gln1778Ter Single submitter
p.Gln514Ter Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Glu1447Ter Single submitter ACAN-related short stature spectrum
p.Glu1953fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Glu2221Ter Single submitter
p.Glu2383Ter Single submitter
p.Glu406fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Glu83Ter Single submitter spondyloepimetaphyseal dysplasia, aggrecan type
p.Gly554fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Gly578Arg Single submitter
p.Gly625fs Single submitter
p.Gly756Arg Single submitter ⚠
p.Gly921_Asp922insTer Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.His2460fs Single submitter
p.Ile398fs Single submitter
p.Ile701fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Ile729_Leu730insTer Single submitter
p.Leu302Pro Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Leu513fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Pro846fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Ser1611fs Single submitter
p.Ser1740Ter Single submitter Autosomal dominant ACAN-related disorders
p.Ser540fs Single submitter Autosomal dominant ACAN-related disorders
p.Ser776fs Single submitter
p.Ser802fs Single submitter
p.Ser845Ter Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Ser883fs Single submitter
p.Ser98fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Thr45fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Trp443Ter Single submitter
p.Trp75fs Single submitter osteochondritis dissecans
p.Trp928Ter Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Tyr109Asn Single submitter
p.Tyr1922Ter Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Val1476fs Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
c.6833-1G>A No assertion criteria short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
c.-7-2A>T No assertion criteria osteochondritis dissecans
p.Ala2280fs No assertion criteria ACAN-related disorder
p.Ala583fs No assertion criteria spondyloepiphyseal dysplasia, Kimberley type
p.Asp2078fs No assertion criteria short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Gln373_Thr374insTer No assertion criteria osteochondritis dissecans
p.Gln464Ter No assertion criteria short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Glu2267Ter No assertion criteria Short stature
p.Gly2416Asp No assertion criteria ACAN-related disorder
p.Lys2479fs No assertion criteria short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Lys313fs No assertion criteria ACAN-related disorder
p.Met1Thr No assertion criteria short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Phe1629fs No assertion criteria short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Phe2448fs No assertion criteria short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Pro1610fs No assertion criteria osteochondritis dissecans
p.Pro2064fs No assertion criteria short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

Conflicting classifications of pathogenicity 44

c.7447+7T>C Single submitter
p.Ala1194Thr Single submitter Inborn genetic diseases ⚠
p.Ala1232Thr Single submitter Inborn genetic diseases ⚠
p.Ala67Thr Single submitter ⚠
p.Arg173Gln Single submitter Inborn genetic diseases ⚠
p.Arg2384His Single submitter Inborn genetic diseases ⚠
p.Arg2387Gln Single submitter Inborn genetic diseases ⚠
p.Arg2511Trp Single submitter ⚠
p.Arg2554Gln Single submitter Inborn genetic diseases ⚠
p.Arg274Trp Single submitter Inborn genetic diseases ⚠
p.Arg305Cys Single submitter osteochondritis dissecans ⚠
p.Arg483His Single submitter ⚠
p.Arg556Trp Single submitter Inborn genetic diseases ⚠
p.Arg675Gln Single submitter Inborn genetic diseases ⚠
p.Arg77His Single submitter osteochondritis dissecans ⚠
p.Arg93Cys Single submitter Inborn genetic diseases ⚠
p.Asp2375His Single submitter Inborn genetic diseases ⚠
p.Asp24Glu Single submitter Inborn genetic diseases ⚠
p.Asp304Asn Single submitter ⚠
p.Asp525Glu Single submitter spondyloepimetaphyseal dysplasia, aggrecan type ⚠
p.Glu1447Asp Single submitter ⚠
p.Glu249Lys Single submitter Inborn genetic diseases ⚠
p.Gly1374Arg Single submitter Inborn genetic diseases ⚠
p.Gly1741Arg Single submitter osteochondritis dissecans ⚠
p.His2533Arg Single submitter Inborn genetic diseases ⚠
p.Ile235Phe Single submitter Inborn genetic diseases ⚠
p.Leu1773Pro Single submitter ⚠
p.Leu4Ser Single submitter ⚠
p.Leu754Pro Single submitter Inborn genetic diseases ⚠
p.Lys2364= Single submitter
p.Phe2373Leu Single submitter spondyloepiphyseal dysplasia, Kimberley type ⚠
p.Pro185Thr Single submitter ⚠
p.Pro38Leu Single submitter Inborn genetic diseases ⚠
p.Ser298= Single submitter
p.Ser509= Single submitter
p.Thr487Ile Single submitter ⚠
p.Thr62Asn Single submitter Inborn genetic diseases ⚠
p.Tyr2370His Single submitter ⚠
p.Tyr2504Ter Single submitter ACAN-related disorder ⚠
p.Val2397Ile Single submitter Inborn genetic diseases ⚠
p.Val372Ile Single submitter Inborn genetic diseases ⚠
p.Val465= Single submitter
p.Val560Met Single submitter Inborn genetic diseases ⚠
p.Val94_Ile112del Single submitter

Benign 118

c.1051+9C>T Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
c.1052-90G>A Multiple submitters
c.1430-40G>A Multiple submitters osteochondritis dissecans
c.1430-40G>T Multiple submitters
c.1430-41C>A Multiple submitters
c.1430-50G>A Multiple submitters
c.1430-52A>G Multiple submitters
c.1605-128G>A Multiple submitters
c.1605-160A>G Multiple submitters
c.1605-90C>A Multiple submitters
c.1732+109T>C Multiple submitters
c.2026+8G>C Multiple submitters
c.2267-140G>C Multiple submitters
c.454+107G>T Multiple submitters
c.455-199T>C Multiple submitters
c.455-237T>G Multiple submitters
c.455-70C>T Multiple submitters
c.629+77G>A Multiple submitters
c.630-130T>G Multiple submitters
c.630-23C>T Multiple submitters
c.6833-153G>A Multiple submitters
c.6946+34G>A Multiple submitters
c.6946+90A>G Multiple submitters
c.7061-237C>T Multiple submitters
c.7303-110T>G Multiple submitters osteochondritis dissecans
c.7448-100A>G Multiple submitters
c.7448-223T>A Multiple submitters
c.757+53T>G Multiple submitters spondyloepimetaphyseal dysplasia, aggrecan type
c.758-37del Multiple submitters osteochondritis dissecans
c.7630+55G>A Multiple submitters
c.7630+96A>G Multiple submitters
c.7631-7G>A Multiple submitters osteochondritis dissecans
p.Ala2260= Multiple submitters osteochondritis dissecans
p.Ala248= Multiple submitters
p.Ala505= Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Ala603= Multiple submitters osteochondritis dissecans
p.Ala628Thr Multiple submitters spondyloepiphyseal dysplasia, Kimberley type ⚠
p.Ala679= Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Arg132Cys Multiple submitters
p.Arg502Cys Multiple submitters ⚠
p.Arg585Ser Multiple submitters spondyloepiphyseal dysplasia, Kimberley type
p.Asp1585= Multiple submitters
p.Cys622= Multiple submitters spondyloepimetaphyseal dysplasia, aggrecan type
p.Gln497Leu Multiple submitters ⚠
p.Glu1508Ala Multiple submitters osteochondritis dissecans
p.Gly708Ser Multiple submitters
p.Ile1765Val Multiple submitters osteochondritis dissecans
p.Ile2079Val Multiple submitters osteochondritis dissecans
p.Ile404Val Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Leu2141= Multiple submitters osteochondritis dissecans
p.Leu412= Multiple submitters
p.Pro2399= Multiple submitters
p.Pro38= Multiple submitters
p.Pro510= Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Pro541= Multiple submitters osteochondritis dissecans
p.Pro68= Multiple submitters spondyloepiphyseal dysplasia, Kimberley type
p.Pro763= Multiple submitters spondyloepimetaphyseal dysplasia, aggrecan type
p.Ser1716Ile Multiple submitters ⚠
p.Ser838= Multiple submitters osteochondritis dissecans
p.Ser930Ile Multiple submitters osteochondritis dissecans ⚠
p.Ser939Thr Multiple submitters osteochondritis dissecans ⚠
p.Thr1003= Multiple submitters osteochondritis dissecans
p.Thr1004Ala Multiple submitters
p.Thr1060= Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Thr1098= Multiple submitters osteochondritis dissecans
p.Thr1117= Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Thr184= Multiple submitters
p.Thr1933= Multiple submitters osteochondritis dissecans
p.Thr466= Multiple submitters spondyloepimetaphyseal dysplasia, aggrecan type
p.Thr492= Multiple submitters spondyloepimetaphyseal dysplasia, aggrecan type
p.Tyr656= Multiple submitters
p.Val1934Leu Multiple submitters ⚠
p.Val407= Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Val573= Multiple submitters spondyloepiphyseal dysplasia, Kimberley type
c.1051+219C>T Single submitter
c.1052-228C>G Single submitter
c.1052-336A>G Single submitter
c.1429+286G>A Single submitter
c.1430-231G>A Single submitter
c.1732+209T>C Single submitter
c.1732+278A>G Single submitter
c.1732+312C>A Single submitter
c.1733-267A>G Single submitter
c.1733-271A>G Single submitter
c.1733-296C>T Single submitter
c.2267-256A>G Single submitter
c.2267-257C>T Single submitter
c.454+206C>T Single submitter
c.454+257G>A Single submitter
c.629+246C>T Single submitter
c.630-237del Single submitter
c.630-237T>A Single submitter
c.630-238dup Single submitter
c.6832+248G>A Single submitter
c.6832+277T>C Single submitter
c.6833-13dup Single submitter
c.6833-233dup Single submitter
c.6833-236_6833-233del Single submitter
c.6833-236_6833-233dup Single submitter
c.6833-282C>T Single submitter
c.6946+114_6946+115insTCTCAGGCT Single submitter
c.6946+252A>G Single submitter
c.7061-318G>T Single submitter
c.71-187G>A Single submitter
c.71-189del Single submitter
c.7219+15del Single submitter
c.757+17A>G Single submitter
c.758-7T>C Single submitter
c.-7-136G>A Single submitter
c.-7-300G>A Single submitter
p.Ala174= Single submitter
p.Ala2449= Single submitter
p.Arg308= Single submitter
p.Asp991Gly Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans ⚠
p.His2137= Single submitter
p.Lys2500Arg Single submitter short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Pro36= Single submitter
p.Ser396= Single submitter

Benign/Likely benign 39

c.1051+10G>A Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
c.1430-5C>T Multiple submitters
c.70+9A>T Multiple submitters
p.Ala1213Thr Multiple submitters spondyloepimetaphyseal dysplasia, aggrecan type
p.Ala613= Multiple submitters
p.Arg2376= Multiple submitters
p.Arg530Gln Multiple submitters Inborn genetic diseases
p.Arg617His Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Arg668Gln Multiple submitters ⚠
p.Asn2408= Multiple submitters
p.Asp102Glu Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Asp1390Glu Multiple submitters spondyloepiphyseal dysplasia, Kimberley type ⚠
p.Asp194= Multiple submitters
p.Asp2411Glu Multiple submitters spondyloepimetaphyseal dysplasia, aggrecan type ⚠
p.Cys2485= Multiple submitters
p.Cys643= Multiple submitters
p.Gln2538Arg Multiple submitters osteochondritis dissecans
p.Gly1849Val Multiple submitters
p.Gly2000Ser Multiple submitters
p.Gly395Ser Multiple submitters
p.Leu146= Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Leu1855Phe Multiple submitters
p.Phe456Leu Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans ⚠
p.Pro2058Leu Multiple submitters
p.Pro414= Multiple submitters
p.Pro56= Multiple submitters
p.Pro864Leu Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Pro913Thr Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Ser1449= Multiple submitters
p.Ser2120Arg Multiple submitters ⚠
p.Ser2508= Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Ser490Leu Multiple submitters spondyloepimetaphyseal dysplasia, aggrecan type
p.Ser850Gly Multiple submitters
p.Thr1403Ala Multiple submitters osteochondritis dissecans
p.Thr1622Ala Multiple submitters
p.Thr371= Multiple submitters
p.Thr62= Multiple submitters spondyloepiphyseal dysplasia, Kimberley type
p.Tyr2003= Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Val749= Multiple submitters spondyloepimetaphyseal dysplasia, aggrecan type

Likely benign 369

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

c.1429+15G>A Multiple submitters
c.1733-87G>C Multiple submitters
c.455-17G>A Multiple submitters
c.7219+8C>T Multiple submitters
p.Ala1005= Multiple submitters
p.Ala1384Thr Multiple submitters
p.Ala2484Val Multiple submitters spondyloepiphyseal dysplasia, Kimberley type
p.Ala515= Multiple submitters Inborn genetic diseases
p.Ala516Thr Multiple submitters
p.Asp525= Multiple submitters
p.Gln659Glu Multiple submitters
p.Glu423= Multiple submitters
p.Leu1509Phe Multiple submitters spondyloepiphyseal dysplasia, Kimberley type ⚠
p.Pro2279= Multiple submitters
p.Pro2524= Multiple submitters
p.Pro472= Multiple submitters
p.Pro681= Multiple submitters
p.Ser1790Thr Multiple submitters ⚠
p.Ser974= Multiple submitters
p.Thr1422Ala Multiple submitters
p.Tyr623= Multiple submitters
p.Val148= Multiple submitters
p.Val2042Met Multiple submitters skeletal dysplasia ⚠
p.Val637Ile Multiple submitters
c.1051+8A>G Single submitter
c.1052-6C>T Single submitter
c.1429+14C>T Single submitter
c.1429+19G>A Single submitter
c.1430-10C>T Single submitter
c.1430-123T>C Single submitter
c.1430-13C>T Single submitter
c.1430-16C>A Single submitter
c.1430-20G>A Single submitter
c.1604+12C>T Single submitter
c.1604+17C>T Single submitter
c.1604+18G>A Single submitter
c.1604+19C>T Single submitter
c.1605-11C>T Single submitter
c.1605-12T>C Single submitter
c.1605-14A>G Single submitter
c.1605-20C>G Single submitter
c.1605-4G>T Single submitter
c.1605-9C>T Single submitter
c.1732+10A>G Single submitter
c.1732+19C>T Single submitter
c.1732+9C>T Single submitter
c.2026+105A>T Single submitter
c.2026+118C>G Single submitter
c.2026+122G>A Single submitter
c.2026+17C>T Single submitter
c.2026+18G>A Single submitter
c.2026+18G>T Single submitter
c.2026+51C>A Single submitter
c.2026+9C>G Single submitter
c.2027-10T>A Single submitter
c.2027-12C>T Single submitter
c.2027-13A>T Single submitter
c.2027-16C>T Single submitter
c.2027-19C>T Single submitter
c.2027-36_2027-17del Single submitter
c.2027-7_2027-6insGG Single submitter
c.2266+13T>G Single submitter
c.2266+16G>T Single submitter
c.454+11C>T Single submitter
c.454+12C>G Single submitter
c.454+18G>A Single submitter
c.454+23_454+40del Single submitter
c.454+9C>T Single submitter
c.455-17G>T Single submitter
c.455-19G>A Single submitter
c.455-8T>C Single submitter
c.630-12G>A Single submitter
c.630-20C>T Single submitter
c.630-4G>A Single submitter
c.630-8C>T Single submitter
c.6833-231C>T Single submitter
c.6833-7G>C Single submitter
c.6946+13T>C Single submitter
c.6946+14T>C Single submitter
c.6946+16G>T Single submitter
c.6946+18C>T Single submitter
c.6946+19G>A Single submitter
c.70+10T>C Single submitter
c.70+12C>A Single submitter
c.70+13C>T Single submitter
c.70+15A>G Single submitter
c.70+8C>A Single submitter
c.7061-11C>G Single submitter
c.7061-19C>G Single submitter
c.71-10T>C Single submitter
c.7219+12G>A Single submitter
c.7219+12G>T Single submitter
c.7219+18T>A Single submitter
c.7219+8C>G Single submitter
c.7220-11C>A Single submitter
c.7220-11C>G Single submitter
c.7220-4C>T Single submitter
c.7302+10G>A Single submitter
c.7302+15A>C Single submitter
c.7302+7dup Single submitter
c.7303-14A>G Single submitter
c.7303-15C>T Single submitter
c.7303-6C>T Single submitter
c.7303-8A>G Single submitter
c.7447+10C>T Single submitter
c.7447+11G>A Single submitter
c.7447+16G>A Single submitter
c.7448-14T>C Single submitter
c.7448-7C>T Single submitter
c.757+127C>T Single submitter
c.757+13del Single submitter
c.757+8G>T Single submitter
c.758-19C>A Single submitter
c.758-20G>T Single submitter
c.758-6T>A Single submitter
c.7630+11C>G Single submitter
c.7630+14C>G Single submitter
c.7630+14C>T Single submitter
c.7630+14del Single submitter
c.7630+15G>A Single submitter
c.7630+17C>T Single submitter
c.7630+19A>G Single submitter
c.7630+23C>T Single submitter
c.7630+7A>G Single submitter
c.7631-14C>T Single submitter
c.7631-17T>A Single submitter
c.7631-8C>T Single submitter
c.7631-9T>G Single submitter
p.Ala1024= Single submitter
p.Ala1043= Single submitter
p.Ala1062= Single submitter
p.Ala111= Single submitter
p.Ala1213Ser Single submitter ⚠
p.Ala1251Thr Single submitter Inborn genetic diseases
p.Ala144= Single submitter
p.Ala1463Gly Single submitter Inborn genetic diseases
p.Ala16= Single submitter
p.Ala171= Single submitter
p.Ala183= Single submitter
p.Ala190= Single submitter
p.Ala191Thr Single submitter
p.Ala201= Single submitter
p.Ala2264Thr Single submitter Inborn genetic diseases
p.Ala2280= Single submitter
p.Ala299= Single submitter
p.Ala303= Single submitter
p.Ala314= Single submitter
p.Ala426= Single submitter
p.Ala430= Single submitter
p.Ala499Val Single submitter
p.Ala516= Single submitter
p.Ala526= Single submitter
p.Ala614= Single submitter
p.Ala624= Single submitter
p.Ala628= Single submitter
p.Ala948Val Single submitter ⚠
p.Arg173= Single submitter
p.Arg236= Single submitter
p.Arg2371= Single submitter
p.Arg2387= Single submitter
p.Arg2549= Single submitter
p.Arg2550= Single submitter
p.Arg483= Single submitter
p.Arg561= Single submitter
p.Arg585= Single submitter
p.Arg617= Single submitter
p.Arg668= Single submitter
p.Arg675= Single submitter
p.Arg93= Single submitter
p.Asn239= Single submitter
p.Asn2418= Single submitter
p.Asn27= Single submitter
p.Asn434= Single submitter
p.Asp115= Single submitter
p.Asp200= Single submitter
p.Asp243= Single submitter
p.Asp55= Single submitter
p.Asp574= Single submitter
p.Asp629= Single submitter
p.Cys133= Single submitter
p.Cys2288= Single submitter
p.Cys2331= Single submitter
p.Cys2386= Single submitter
p.Cys2514= Single submitter
p.Cys524= Single submitter
p.Cys545= Single submitter
p.Gln101= Single submitter
p.Gln172= Single submitter
p.Glu1409Asp Single submitter
p.Glu1508_Leu1509delinsAlaPhe Single submitter
p.Glu1977Asp Single submitter Inborn genetic diseases ⚠
p.Glu2033= Single submitter
p.Glu226= Single submitter
p.Glu2295= Single submitter
p.Glu2347Lys Single submitter
p.Glu2360= Single submitter
p.Glu2461= Single submitter
p.Glu2464Lys Single submitter
p.Glu254= Single submitter
p.Glu367= Single submitter
p.Glu368= Single submitter
p.Glu406Asp Single submitter Inborn genetic diseases
p.Glu406Lys Single submitter ⚠
p.Glu435= Single submitter
p.Glu495= Single submitter
p.Glu687= Single submitter
p.Glu725= Single submitter
p.Glu731= Single submitter
p.Glu797Gly Single submitter ⚠
p.Glu990= Single submitter
p.Gly129= Single submitter
p.Gly152= Single submitter
p.Gly2159= Single submitter Inborn genetic diseases
p.Gly2169Glu Single submitter ⚠
p.Gly2298= Single submitter
p.Gly2361= Single submitter
p.Gly2416= Single submitter
p.Gly2481= Single submitter
p.Gly2498= Single submitter
p.Gly336= Single submitter
p.Gly363= Single submitter
p.Gly425= Single submitter
p.Gly451= Single submitter
p.Gly520= Single submitter
p.Gly661= Single submitter
p.His2299= Single submitter
p.His2460= Single submitter
p.His2522= Single submitter
p.His2533= Single submitter
p.Ile139= Single submitter
p.Ile153= Single submitter
p.Ile2050Val Single submitter Inborn genetic diseases
p.Ile2396= Single submitter
p.Ile2415= Single submitter
p.Ile2422= Single submitter
p.Ile370= Single submitter
p.Ile388= Single submitter
p.Ile54= Single submitter
p.Ile636= Single submitter
p.Ile701= Single submitter
p.Ile992Leu Single submitter Inborn genetic diseases ⚠
p.Leu1001Pro Single submitter Inborn genetic diseases ⚠
p.Leu106= Single submitter
p.Leu123= Single submitter
p.Leu2154Ser Single submitter Inborn genetic diseases
p.Leu2241= Single submitter
p.Leu2303= Single submitter
p.Leu2474= Single submitter
p.Leu2509= Single submitter
p.Leu276= Single submitter
p.Leu288= Single submitter
p.Leu29= Single submitter
p.Leu323= Single submitter
p.Leu5= Single submitter
p.Leu513= Single submitter
p.Leu576= Single submitter
p.Leu619= Single submitter
p.Leu69= Single submitter
p.Leu754= Single submitter
p.Leu86= Single submitter
p.Lys827= Single submitter
p.Met1974Thr Single submitter
p.Phe2447= Single submitter
p.Phe247= Single submitter
p.Phe2497= Single submitter
p.Phe264= Single submitter
p.Phe405= Single submitter
p.Phe429= Single submitter
p.Phe582= Single submitter
p.Pro110= Single submitter
p.Pro2002= Single submitter
p.Pro212= Single submitter
p.Pro2287= Single submitter
p.Pro2374= Single submitter
p.Pro338= Single submitter
p.Pro442= Single submitter
p.Pro446= Single submitter
p.Pro544= Single submitter
p.Pro641= Single submitter
p.Pro648= Single submitter
p.Pro657= Single submitter
p.Pro663= Single submitter
p.Pro665= Single submitter
p.Pro683= Single submitter
p.Pro691= Single submitter
p.Pro707= Single submitter
p.Pro713= Single submitter
p.Pro722= Single submitter
p.Pro753= Single submitter
p.Pro847= Single submitter
p.Pro929Ser Single submitter Inborn genetic diseases
p.Ser1221= Single submitter
p.Ser1411= Single submitter
p.Ser142= Single submitter
p.Ser1430= Single submitter
p.Ser1989= Single submitter
p.Ser2150= Single submitter
p.Ser2282= Single submitter
p.Ser2394= Single submitter
p.Ser28= Single submitter

Uncertain significance 906

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

c.630-3C>A Multiple submitters
c.7630+1G>A Multiple submitters
p.Ala1404Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala171Val Multiple submitters spondyloepimetaphyseal dysplasia, aggrecan type ⚠
p.Ala174Val Multiple submitters ⚠
p.Ala190Thr Multiple submitters ⚠
p.Ala191Val Multiple submitters ⚠
p.Ala2163Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala2191Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala2278Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala2278Val Multiple submitters ⚠
p.Ala2409Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala248Thr Multiple submitters Growth failure in early childhood ⚠
p.Ala299Asp Multiple submitters ⚠
p.Ala299Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala346Thr Multiple submitters Monogenic short statue ⚠
p.Ala455Thr Multiple submitters ⚠
p.Ala455Val Multiple submitters Inborn genetic diseases ⚠
p.Ala499Asp Multiple submitters ⚠
p.Ala505Val Multiple submitters ACAN-related disorder ⚠
p.Ala583Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala614Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala728Thr Multiple submitters ⚠
p.Arg132His Multiple submitters Inborn genetic diseases ⚠
p.Arg236Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg2371His Multiple submitters Inborn genetic diseases ⚠
p.Arg2385Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg2385Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg2427Cys Multiple submitters ⚠
p.Arg2427His Multiple submitters Growth failure in early childhood ⚠
p.Arg2440Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg2503Gln Multiple submitters spondyloepimetaphyseal dysplasia, aggrecan type ⚠
p.Arg2503Trp Multiple submitters osteochondritis dissecans ⚠
p.Arg2511Gln Multiple submitters ⚠
p.Arg2549His Multiple submitters Inborn genetic diseases ⚠
p.Arg2560Trp Multiple submitters spondyloepimetaphyseal dysplasia, aggrecan type ⚠
p.Arg2563Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg279Gln Multiple submitters spondyloepiphyseal dysplasia, Kimberley type ⚠
p.Arg305His Multiple submitters Inborn genetic diseases ⚠
p.Arg315Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg343Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg343His Multiple submitters Inborn genetic diseases ⚠
p.Arg394Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg483Cys Multiple submitters osteochondritis dissecans ⚠
p.Arg530Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg556Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg561His Multiple submitters ⚠
p.Arg585His Multiple submitters Inborn genetic diseases ⚠
p.Arg633His Multiple submitters Inborn genetic diseases ⚠
p.Arg668Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg77Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg95Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn108Lys Multiple submitters ⚠
p.Asn2418Lys Multiple submitters ⚠
p.Asn271Ile Multiple submitters Inborn genetic diseases ⚠
p.Asn27Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp1371Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp167Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp223Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp339Asn Multiple submitters osteochondritis dissecans ⚠
p.Asp55Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys246Arg Multiple submitters ⚠
p.Cys2470Ser Multiple submitters Inborn genetic diseases ⚠
p.Gln2355Glu Multiple submitters ⚠
p.Gln2443Lys Multiple submitters osteochondritis dissecans ⚠
p.Gln471Lys Multiple submitters ⚠
p.Gln523Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln659Arg Multiple submitters ⚠
p.Glu1002Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu134Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu140Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1446Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1993Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu2311Lys Multiple submitters ⚠
p.Glu2423Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu2423Lys Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans ⚠
p.Glu2461Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu249Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu250Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu252Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu416Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu431Val Multiple submitters Inborn genetic diseases ⚠
p.Glu433Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu495Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu587Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu735Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu828Gly Multiple submitters Inborn genetic diseases ⚠
p.Gly129Glu Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans ⚠
p.Gly138Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly152Ser Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans ⚠
p.Gly1547Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly1582Glu Multiple submitters osteochondritis dissecans ⚠
p.Gly1615Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly1990Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly2151Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly2245Arg Multiple submitters ACAN-related disorder ⚠
p.Gly2289Val Multiple submitters Inborn genetic diseases ⚠
p.Gly2451Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly2463= Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Gly2498Arg Multiple submitters ⚠
p.Gly300Ser Multiple submitters ⚠
p.Gly365Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly451Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly470Arg Multiple submitters ⚠
p.Gly477Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly504Trp Multiple submitters ⚠
p.Gly520Ser Multiple submitters ⚠
p.Gly649= Multiple submitters
p.Gly689Asp Multiple submitters ⚠
p.Gly946_Glu964del Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
p.Gly994Arg Multiple submitters Inborn genetic diseases ⚠
p.His1978Pro Multiple submitters Inborn genetic diseases ⚠
p.His331Asn Multiple submitters Inborn genetic diseases ⚠
p.His670Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile181Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile2217Phe Multiple submitters Inborn genetic diseases ⚠
p.Ile2315= Multiple submitters spondyloepiphyseal dysplasia, Kimberley type
p.Ile729Val Multiple submitters Inborn genetic diseases ⚠
p.Ile73Val Multiple submitters Inborn genetic diseases ⚠
p.Leu399Phe Multiple submitters ACAN-related disorder ⚠
p.Leu461Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu529Pro Multiple submitters ⚠
p.Leu655Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu662Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu817Pro Multiple submitters ⚠
p.Lys2072Glu Multiple submitters Monogenic short statue ⚠
p.Lys80Arg Multiple submitters Inborn genetic diseases ⚠
p.Met2434Val Multiple submitters Inborn genetic diseases ⚠
p.Phe732Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1570Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro2488Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro338Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro484Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro753Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro841Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser161Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ser1856Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser2005Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser2029Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser509Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser540Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser65Tyr Multiple submitters Inborn genetic diseases ⚠
p.Thr1003Ser Multiple submitters Monogenic short statue ⚠
p.Thr165Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr184Met Multiple submitters ⚠
p.Thr1888Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr2038Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr208Ile Multiple submitters ⚠
p.Thr2103Met Multiple submitters Inborn genetic diseases ⚠
p.Thr2232Met Multiple submitters ⚠
p.Thr2255Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr2296Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr2398Pro Multiple submitters ⚠
p.Thr335Met Multiple submitters Inborn genetic diseases ⚠
p.Thr374Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr376Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr440Ile Multiple submitters ⚠
p.Thr454Met Multiple submitters Inborn genetic diseases ⚠
p.Thr503Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr543Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr604Met Multiple submitters Inborn genetic diseases ⚠
p.Thr652Met Multiple submitters Inborn genetic diseases ⚠
p.Thr718Lys Multiple submitters osteochondritis dissecans ⚠
p.Thr740Ser Multiple submitters ⚠
p.Thr985Ala Multiple submitters Inborn genetic diseases ⚠
p.Tyr521Cys Multiple submitters Inborn genetic diseases ⚠
p.Val120Phe Multiple submitters Inborn genetic diseases ⚠
p.Val149Met Multiple submitters Inborn genetic diseases ⚠
p.Val209Gly Multiple submitters Inborn genetic diseases ⚠
p.Val2300Ile Multiple submitters Inborn genetic diseases ⚠
p.Val307Met Multiple submitters short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans ⚠
p.Val328Ile Multiple submitters Inborn genetic diseases ⚠
p.Val397Met Multiple submitters Inborn genetic diseases ⚠
p.Val401Ile Multiple submitters Inborn genetic diseases ⚠
p.Val462Ile Multiple submitters Inborn genetic diseases ⚠
p.Val462Phe Multiple submitters Inborn genetic diseases ⚠
p.Val465Met Multiple submitters Inborn genetic diseases ⚠
p.Val468Leu Multiple submitters Inborn genetic diseases ⚠
p.Val478Phe Multiple submitters ⚠
p.Val479Ile Multiple submitters Inborn genetic diseases ⚠
p.Val534Ile Multiple submitters Inborn genetic diseases ⚠
p.Val650Met Multiple submitters Meniere disease ⚠
p.Val680Phe Multiple submitters Inborn genetic diseases ⚠
p.Val714Ile Multiple submitters Inborn genetic diseases ⚠
p.Val84Leu Multiple submitters Inborn genetic diseases ⚠
p.Val88Met Multiple submitters spondyloepiphyseal dysplasia, Kimberley type ⚠
p.Val94Met Multiple submitters ⚠
p.Val9Met Multiple submitters Inborn genetic diseases ⚠
c.1051+3G>T Single submitter
c.1052-14T>A Single submitter
c.1052-3T>C Single submitter
c.1052-3T>G Single submitter
c.1430-3C>T Single submitter
c.1604+48G>C Single submitter spondyloepiphyseal dysplasia, Kimberley type
c.1604+9A>G Single submitter
c.1732+5A>G Single submitter
c.2026+4T>C Single submitter
c.2027-16_2027-15delinsGT Single submitter
c.2266+4G>A Single submitter
c.455-3C>T Single submitter
c.455-4_455-3delinsAA Single submitter
c.629+5G>A Single submitter
c.630-3C>T Single submitter
c.6833-19T>A Single submitter
c.6946+3A>C Single submitter
c.70+3G>A Single submitter
c.7061-14_7061-13delinsTG Single submitter
c.7220-3C>A Single submitter
c.7302+3G>A Single submitter
c.7448-12T>C Single submitter
c.7448-5C>G Single submitter
c.758-3C>T Single submitter
c.7630+1G>T Single submitter
c.-7-2A>G Single submitter
p.Ala1118Thr Single submitter ⚠
p.Ala116Pro Single submitter ⚠
p.Ala1271Val Single submitter ⚠
p.Ala1365Thr Single submitter ⚠
p.Ala1366Ser Single submitter Inborn genetic diseases ⚠
p.Ala144Ser Single submitter ⚠
p.Ala1672Gly Single submitter osteochondritis dissecans ⚠
p.Ala16Val Single submitter ⚠
p.Ala1719Val Single submitter Inborn genetic diseases ⚠
p.Ala171Thr Single submitter ⚠
p.Ala17Val Single submitter ⚠
p.Ala190Val Single submitter ⚠
p.Ala1921Val Single submitter ⚠
p.Ala1967Val Single submitter ⚠
p.Ala1971Gly Single submitter Inborn genetic diseases ⚠
p.Ala201Thr Single submitter ⚠
p.Ala2028Thr Single submitter Inborn genetic diseases ⚠
p.Ala2105Thr Single submitter Inborn genetic diseases ⚠
p.Ala2230Ser Single submitter Inborn genetic diseases ⚠
p.Ala2264Pro Single submitter Inborn genetic diseases ⚠
p.Ala2276Thr Single submitter Inborn genetic diseases ⚠
p.Ala2280Thr Single submitter ⚠
p.Ala2409Asp Single submitter ⚠
p.Ala2409Val Single submitter ⚠
p.Ala2450Thr Single submitter ⚠
p.Ala248Pro Single submitter ⚠
p.Ala281Val Single submitter ⚠
p.Ala314Asp Single submitter ⚠
p.Ala430Pro Single submitter ⚠
p.Ala430Ser Single submitter Inborn genetic diseases ⚠
p.Ala430Thr Single submitter ⚠
p.Ala453Ser Single submitter ⚠
p.Ala467Ser Single submitter ⚠
p.Ala467Thr Single submitter ⚠
p.Ala496Thr Single submitter ⚠
p.Ala508Val Single submitter ⚠
p.Ala519Thr Single submitter ⚠
p.Ala526Thr Single submitter ⚠
p.Ala594Thr Single submitter Inborn genetic diseases ⚠
p.Ala603Thr Single submitter ⚠
p.Ala606Gly Single submitter spondyloepimetaphyseal dysplasia, aggrecan type ⚠
p.Ala613Thr Single submitter ⚠
p.Ala63Asp Single submitter spondyloepimetaphyseal dysplasia, aggrecan type ⚠
p.Ala63Pro Single submitter ⚠
p.Ala63Thr Single submitter ⚠
p.Ala679Val Single submitter ⚠
p.Ala67Val Single submitter Inborn genetic diseases ⚠
p.Ala711Pro Single submitter ⚠
p.Ala837Asp Single submitter Inborn genetic diseases ⚠
p.Ala837Pro Single submitter ⚠
p.Ala948Pro Single submitter ⚠
p.Arg124Cys Single submitter ⚠
p.Arg124His Single submitter ⚠
p.Arg132Leu Single submitter ⚠
p.Arg163Cys Single submitter ⚠
p.Arg1705_Gly1708del Single submitter
p.Arg173Trp Single submitter ⚠
p.Arg210Gly Single submitter ⚠
p.Arg217Gln Single submitter ⚠
p.Arg217Trp Single submitter ⚠
p.Arg2228Cys Single submitter Inborn genetic diseases ⚠
p.Arg2270Cys Single submitter Inborn genetic diseases ⚠
p.Arg2371Cys Single submitter Inborn genetic diseases ⚠
p.Arg2376Cys Single submitter ⚠
p.Arg2376His Single submitter ⚠
p.Arg2387_Glu2388del Single submitter
p.Arg2387_Glu2388insCysArg Single submitter
p.Arg2387Gly Single submitter ⚠
p.Arg2387Trp Single submitter ⚠
p.Arg2440His Single submitter ⚠
p.Arg2503Leu Single submitter ⚠
p.Arg2521Cys Single submitter ⚠
p.Arg2521His Single submitter ⚠
p.Arg2527Gln Single submitter ⚠
p.Arg2549Cys Single submitter ⚠
p.Arg2554Trp Single submitter Inborn genetic diseases ⚠
p.Arg2557Gln Single submitter ⚠
p.Arg2557Pro Single submitter ⚠
p.Arg2557Trp Single submitter ⚠
p.Arg2561Gly Single submitter Inborn genetic diseases ⚠
p.Arg2563His Single submitter ⚠
p.Arg274Gln Single submitter ⚠
p.Arg275Gln Single submitter
p.Arg279Trp Single submitter ⚠
p.Arg305Gly Single submitter ⚠
p.Arg308His Single submitter Inborn genetic diseases ⚠