ARSL — 462 ClinVar variants

All ClinVar germline ARSL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →

19 Pathogenic · 2 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 29 Conflicting · 69 Benign · 14 Benign/Likely benign · 200 Likely benign · 109 Uncertain significance

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

⚑ Evidence disagreements 148

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 8

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

ARSL p.Ala463Thr Pathogenic Single submitter
ARSL p.Ala83Thr Likely pathogenic Single submitter
X-linked chondrodysplasia punctata 1
ARSL p.Arg111His Likely pathogenic Single submitter
ARSL p.Arg285Lys Likely pathogenic Single submitter
ARSL p.Thr306Ala Pathogenic Single submitter
X-linked chondrodysplasia punctata 1
ARSL p.Thr409Met Likely pathogenic Single submitter
ARSL p.Gly245Arg Pathogenic No assertion criteria
X-linked chondrodysplasia punctata 1
ARSL p.Pro578Ser Pathogenic No assertion criteria
X-linked chondrodysplasia punctata 1

Predictors agree, ClinVar conflicts 10

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

ARSL p.Ala20Thr Conflicting Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ala239Thr Conflicting Single submitter
Inborn genetic diseases
ARSL p.Gly391Arg Conflicting Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Gly490Ser Conflicting Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ile565Ser Conflicting Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Leu113Phe Conflicting Single submitter
X-linked chondrodysplasia punctata 1
ARSL p.Phe243Ser Conflicting Single submitter
Inborn genetic diseases
ARSL p.Val339Met Conflicting Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Val418Met Conflicting Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Val533Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 45

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

ARSL p.Ala182Thr Uncertain significance Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ala251Val Uncertain significance Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Arg12Ser Uncertain significance Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Asp413Glu Uncertain significance Multiple submitters
X-linked chondrodysplasia punctata 1
ARSL p.Cys8Ser Uncertain significance Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.His259Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ARSL p.Ile40Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ARSL p.Ala155Thr Uncertain significance Single submitter
ARSL p.Ala491Thr Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Arg332Gln Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Asn198Ser Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Asn59Ser Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Asp47Asn Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Asp47Tyr Uncertain significance Single submitter
ARSL p.Asp587Asn Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Cys10Ser Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Cys55Tyr Uncertain significance Single submitter
X-linked chondrodysplasia punctata 1
ARSL p.Cys86Tyr Uncertain significance Single submitter
ARSL-related disorder
ARSL p.Gln366His Uncertain significance Single submitter
ARSL p.Gln542Arg Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Glu487Asp Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Glu585Lys Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Gly109Ala Uncertain significance Single submitter
ARSL p.Gly320Arg Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Gly355Ser Uncertain significance Single submitter
X-linked chondrodysplasia punctata 1
ARSL p.Gly386Trp Uncertain significance Single submitter
ARSL p.Gly494Arg Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.His250Arg Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Leu15Val Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Leu232Val Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Leu247Val Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Met326Ile Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Met474Ile Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Pro576Leu Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ser187Pro Uncertain significance Single submitter
ARSL p.Ser31Arg Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Thr210Ile Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Thr262Met Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Thr409Arg Uncertain significance Single submitter
ARSL p.Thr523Ser Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Thr63Ile Uncertain significance Single submitter
X-linked chondrodysplasia punctata 1
ARSL p.Trp466Cys Uncertain significance Single submitter
ARSL p.Tyr138Cys Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Val426Leu Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ser345Asn Uncertain significance No assertion criteria

Predictors split 85

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

ARSL p.Ala45Val Uncertain significance Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Arg190His Uncertain significance Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Asp470His Benign/Likely benign Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Gln558Lys Uncertain significance Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Glu451Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ARSL p.Gly424Ser Benign Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Gly73Ser Likely pathogenic Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Pro290Ser Uncertain significance Multiple submitters
ARSL p.Pro38Leu Uncertain significance Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ser517Leu Uncertain significance Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Tyr171Cys Uncertain significance Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Val300Ile Uncertain significance Multiple submitters
X-linked chondrodysplasia punctata 1
ARSL p.Val74Met Benign Multiple submitters
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ala422Thr Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ala422Val Conflicting Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ala45Thr Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ala544Val Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Arg101Gln Uncertain significance Single submitter
ARSL p.Arg332Trp Conflicting Single submitter
Inborn genetic diseases
ARSL p.Arg388His Conflicting Single submitter
Inborn genetic diseases
ARSL p.Arg394Cys Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Arg394His Benign Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Arg420Trp Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Arg465Thr Uncertain significance Single submitter
ARSL p.Arg469Gln Likely benign Single submitter
Inborn genetic diseases
ARSL p.Arg469Trp Conflicting Single submitter
Inborn genetic diseases
ARSL p.Arg518Gly Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Arg540Gly Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Arg62Met Uncertain significance Single submitter
ARSL p.Asp180Glu Likely pathogenic Single submitter
ARSL p.Asp429Tyr Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Asp509Asn Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Asp515Glu Uncertain significance Single submitter
ARSL p.Glu324Lys Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Glu359Asp Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Glu407Lys Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Glu451Lys Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Gly137Ala Conflicting Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Gly312Arg Conflicting Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Gly317Arg Conflicting Single submitter
X-linked chondrodysplasia punctata 1
ARSL p.Gly341Ala Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Gly341Val Uncertain significance Single submitter
X-linked chondrodysplasia punctata 1
ARSL p.Gly356Ser Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Gly397Arg Conflicting Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Gly402Ser Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Gly434Ser Pathogenic Single submitter
ARSL p.Gly488Arg Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Gly57Asp Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.His450Leu Uncertain significance Single submitter
ARSL p.His548Leu Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ile228Met Uncertain significance Single submitter
X-linked chondrodysplasia punctata 1
ARSL p.Ile348Thr Conflicting Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ile373Val Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Ile387Leu Benign Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ile50Thr Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Leu216Phe Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Leu232Phe Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Leu236Ile Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Leu276Gln Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Leu347Phe Benign Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Leu94Phe Conflicting Single submitter
connective tissue disorder
ARSL p.Lys134Asn Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Met329Ile Conflicting Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Met61Val Uncertain significance Single submitter
ARSL p.Phe254Leu Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Pro174Thr Uncertain significance Single submitter
ARSL p.Pro226Leu Conflicting Single submitter
Inborn genetic diseases
ARSL p.Pro390Leu Uncertain significance Single submitter
ARSL p.Pro396Leu Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Pro400Leu Conflicting Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Pro486Ser Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Pro499Leu Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ser119Tyr Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Ser223Leu Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Thr351Met Uncertain significance Single submitter
ARSL p.Thr481Met Conflicting Single submitter
X-linked chondrodysplasia punctata 1
ARSL p.Tyr242Cys Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Val227Phe Uncertain significance Single submitter
Inborn genetic diseases
ARSL p.Val279Leu Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Val323Ile Likely benign Single submitter
Inborn genetic diseases
ARSL p.Val330Ile Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Val398Met Likely benign Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Val545Met Uncertain significance Single submitter
chondrodysplasia punctata, brachytelephalangic, autosomal
ARSL p.Arg111Pro Pathogenic No assertion criteria
X-linked chondrodysplasia punctata 1
ARSL p.Gly137Val Pathogenic No assertion criteria
X-linked chondrodysplasia punctata 1

All ARSL variants

Pathogenic 19

p.Ala463Thr Single submitter ⚠
p.Arg540Ter Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Cys10Ter Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gln571Ter Single submitter
p.Gly434Ser Single submitter ⚠
p.Ile387fs Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu25fs Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu276fs Single submitter X-linked chondrodysplasia punctata 1
p.Leu337fs Single submitter
p.Leu43del Single submitter
p.Met44fs Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr306Ala Single submitter X-linked chondrodysplasia punctata 1 ⚠
p.Trp328Ter Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Tyr98Ter Single submitter X-linked chondrodysplasia punctata 1
p.Arg111Pro No assertion criteria X-linked chondrodysplasia punctata 1 ⚠
p.Cys492Tyr No assertion criteria X-linked chondrodysplasia punctata 1
p.Gly137Val No assertion criteria X-linked chondrodysplasia punctata 1 ⚠
p.Gly245Arg No assertion criteria X-linked chondrodysplasia punctata 1 ⚠
p.Pro578Ser No assertion criteria X-linked chondrodysplasia punctata 1 ⚠

Pathogenic/Likely pathogenic 2

c.1289+1G>A Multiple submitters X-linked chondrodysplasia punctata 1
p.Gly117Arg Multiple submitters X-linked chondrodysplasia punctata 1

Likely pathogenic 20

c.24-2A>G Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Arg111Cys Multiple submitters
p.Gly73Ser Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
c.185+1G>A Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.23+1G>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.991+2T>C Single submitter X-linked chondrodysplasia punctata 1
p.Ala83Thr Single submitter X-linked chondrodysplasia punctata 1 ⚠
p.Arg111His Single submitter ⚠
p.Arg285Lys Single submitter ⚠
p.Arg37Ter Single submitter
p.Asp180Glu Single submitter ⚠
p.Cys86Ter Single submitter X-linked chondrodysplasia punctata 1
p.Glu407Ter Single submitter X-linked chondrodysplasia punctata 1
p.Gly144Arg Single submitter X-linked chondrodysplasia punctata 1
p.Ile40Ser Single submitter X-linked chondrodysplasia punctata 1
p.Leu232fs Single submitter X-linked chondrodysplasia punctata 1
p.Met326Thr Single submitter
p.Thr409Met Single submitter ⚠
p.Tyr171Ter Single submitter
p.Trp370fs No assertion criteria X-linked chondrodysplasia punctata 1

Conflicting classifications of pathogenicity 29

c.23+5G>C Single submitter connective tissue disorder
c.24-1G>A Single submitter X-linked chondrodysplasia punctata 1
p.Ala20Thr Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Ala239Thr Single submitter Inborn genetic diseases ⚠
p.Ala422Val Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Arg332Trp Single submitter Inborn genetic diseases ⚠
p.Arg388His Single submitter Inborn genetic diseases ⚠
p.Arg469Trp Single submitter Inborn genetic diseases ⚠
p.Gln543= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gly137Ala Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Gly312Arg Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Gly317Arg Single submitter X-linked chondrodysplasia punctata 1 ⚠
p.Gly391Arg Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Gly397Arg Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Gly490Ser Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Ile348Thr Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Ile565Ser Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Leu113Phe Single submitter X-linked chondrodysplasia punctata 1 ⚠
p.Leu94Phe Single submitter connective tissue disorder ⚠
p.Met329Ile Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Phe243Ser Single submitter Inborn genetic diseases ⚠
p.Pro226Leu Single submitter Inborn genetic diseases ⚠
p.Pro400Leu Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Thr473= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr481Met Single submitter X-linked chondrodysplasia punctata 1 ⚠
p.Trp581Ter Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Val339Met Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Val418Met Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Val533Met Single submitter Inborn genetic diseases ⚠

Benign 69

c.1127-141GA[10] Multiple submitters X-linked chondrodysplasia punctata 1
c.1412-52C>T Multiple submitters
c.186-267G>T Multiple submitters
c.23+115G>A Multiple submitters
c.23+123A>G Multiple submitters
c.23+543A>G Multiple submitters
c.23+584C>T Multiple submitters
c.23+687G>A Multiple submitters X-linked chondrodysplasia punctata 1
c.24-26C>T Multiple submitters X-linked chondrodysplasia punctata 1
c.307+144T>G Multiple submitters
c.430+173C>G Multiple submitters
c.430+8C>T Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
c.855-15C>T Multiple submitters X-linked chondrodysplasia punctata 1
c.992-219C>G Multiple submitters X-linked chondrodysplasia punctata 1
c.-14GA[3] Multiple submitters connective tissue disorder
c.*167T>C Multiple submitters
c.*271G>A Multiple submitters
p.Ala26= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Arg183= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Asn564= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gly424Ser Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.His165= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.His299= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ile53Val Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Pro576= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr262= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Val74Met Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
c.1289+298A>C Single submitter
c.1289+9C>T Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1290-271C>G Single submitter
c.1290-295A>G Single submitter
c.185+125G>T Single submitter
c.23+103_23+109del Single submitter
c.23+163C>T Single submitter
c.23+185G>A Single submitter
c.23+229C>T Single submitter
c.23+237G>A Single submitter
c.23+239C>A Single submitter
c.23+240T>C Single submitter
c.23+243C>T Single submitter
c.23+38TTCT[6] Single submitter
c.23+38TTCT[7] Single submitter
c.23+413TTCT[4] Single submitter
c.23+413TTCT[5] Single submitter
c.23+413TTCT[7] Single submitter
c.23+84_23+85dup Single submitter
c.23+84dup Single submitter
c.24-14G>A Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.24-15C>T Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.24-207C>A Single submitter
c.308-168C>T Single submitter
c.308-225A>G Single submitter
c.430+138T>C Single submitter
c.854+303G>T Single submitter
c.855-189del Single submitter
c.855-195_855-189del Single submitter
c.855-196_855-189del Single submitter
c.855-197_855-189del Single submitter
c.992-224T>G Single submitter
c.-14GA[6] Single submitter
c.-20-284A>G Single submitter
c.*274G>C Single submitter
p.Arg394His Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Gly289= Single submitter
p.His165Gln Single submitter
p.Ile387Leu Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Leu347Phe Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Pro568= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Val235Ile Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal

Benign/Likely benign 14

c.23+17T>C Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
c.-14GA[4] Multiple submitters connective tissue disorder
p.Ala280= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ala35Thr Multiple submitters Inborn genetic diseases
p.Arg183His Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Arg420Gln Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Asp470His Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Asp72= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.His259Asp Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.His462= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu238= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ser156Asn Multiple submitters intellectual disability
p.Ser34= Multiple submitters connective tissue disorder
p.Val222Ile Multiple submitters Inborn genetic diseases

Likely benign 200

c.1290-45G>A Multiple submitters
c.185+101A>G Multiple submitters
c.307+209C>T Multiple submitters
c.854+166G>A Multiple submitters
c.854+18A>G Multiple submitters X-linked chondrodysplasia punctata 1
p.Gly355= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.His316= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu562= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Lys378= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ser296= Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal
c.1126+12A>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1126+12A>G Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1126+13T>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1126+14G>A Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1127-10T>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1127-13T>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1127-141GA[8] Single submitter
c.1127-15T>G Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1127-19T>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1127-4C>G Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1127-5C>T Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1127-9C>T Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1289+270A>G Single submitter
c.1289+6G>C Single submitter
c.1411+13G>A Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1411+14C>A Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1412-13_1412-12del Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.1412-16A>T Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.185+13G>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.185+18A>G Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.185+20T>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.185+266G>A Single submitter
c.186-10C>A Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.186-320A>G Single submitter
c.186-4A>G Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.186-6C>T Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.23+15T>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.23+17T>G Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.23+19C>T Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.23+241G>A Single submitter
c.23+247A>G Single submitter
c.23+248C>T Single submitter
c.23+257A>C Single submitter
c.23+343G>A Single submitter
c.23+353A>C Single submitter
c.23+84_23+86dup Single submitter
c.23+931G>T Single submitter
c.23+969C>T Single submitter
c.23+9C>A Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.24-12A>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.24-12A>G Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.24-206C>A Single submitter
c.307+101A>C Single submitter
c.307+18A>G Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.307+19C>G Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.307+9C>G Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.308-12_308-10del Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.308-146G>A Single submitter
c.430+19G>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.430+9G>A Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.430+9G>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.431-15C>T Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.431-16C>T Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.431-18A>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.431-7C>T Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.431-8C>T Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.431-9G>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.854+16T>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.854+7A>T Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.855-14G>A Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.855-15C>G Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.855-16T>C Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.855-212dup Single submitter
c.855-8A>G Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.991+10C>A Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.991+17G>A Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.991+193C>T Single submitter
c.991+312T>C Single submitter
c.992-13C>A Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.-10G>C Single submitter connective tissue disorder
c.-20-259T>C Single submitter
p.Ala17= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ala20= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ala213= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ala231= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ala234= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ala251= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ala401= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ala422= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ala45= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ala489= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ala544= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ala82= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Arg388= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Arg469Gln Single submitter Inborn genetic diseases ⚠
p.Arg540= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Arg540Gln Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Asn322= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Asn364= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Asn39= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Asp252= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Asp327= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Asp338= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Asp353= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Asp413= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Asp433= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Asp46= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Cys181= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Cys267= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gln366= Single submitter
p.Gln428= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gln446= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gln468= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gln542= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Glu359= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Glu487= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gly109= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gly312= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gly317= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gly320= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gly406= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gly423= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gly424= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gly49= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Gly73= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.His158= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.His161= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.His250= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.His354= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.His450= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.His478= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.His508= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.His79= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ile392= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu19= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu204= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu232= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu237= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu255= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu311= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu318= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu342= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu347= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu453= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu559= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu9= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Leu94= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Met454Ile Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Phe291Leu Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Phe350= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Phe479= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Pro221= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Pro226= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Pro273= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Pro303= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Pro38= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Pro390= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Pro400= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Pro486= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Pro499= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Pro532= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Pro64= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ser187= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ser223= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ser233= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ser233Leu Single submitter Inborn genetic diseases
p.Ser31= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ser345= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ser352= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ser357= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ser36= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Ser553= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr116= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr124= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr271= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr336= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr351= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr409= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr417= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr473Lys Single submitter Inborn genetic diseases
p.Thr481= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr527= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr551= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Thr95= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Tyr171= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Tyr349= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Tyr456= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Tyr493= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Tyr56= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Val227= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Val279= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Val323= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Val323Ile Single submitter Inborn genetic diseases ⚠
p.Val398Met Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Val477= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Val506= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Val537= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Val545= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Val555= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
p.Val74= Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal

Uncertain significance 109

p.Ala182Thr Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Ala251Val Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Ala45Val Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Arg12Ser Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Arg190His Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Asp413Glu Multiple submitters X-linked chondrodysplasia punctata 1 ⚠
p.Cys8Ser Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Gln558Lys Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Glu451Gln Multiple submitters Inborn genetic diseases ⚠
p.His259Gln Multiple submitters Inborn genetic diseases ⚠
p.Ile40Phe Multiple submitters Inborn genetic diseases ⚠
p.Pro290Ser Multiple submitters ⚠
p.Pro38Leu Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Ser517Leu Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Tyr171Cys Multiple submitters chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Val300Ile Multiple submitters X-linked chondrodysplasia punctata 1 ⚠
c.23+691T>G Single submitter
c.23+697G>A Single submitter
c.430+1G>T Single submitter X-linked chondrodysplasia punctata 1
c.854+13G>A Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal
c.-20-13T>G Single submitter
p.Ala155Thr Single submitter ⚠
p.Ala422Thr Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Ala45Thr Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Ala491Thr Single submitter Inborn genetic diseases ⚠
p.Ala544Val Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Arg101Gln Single submitter ⚠
p.Arg332Gln Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Arg394Cys Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Arg420Trp Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Arg465Thr Single submitter ⚠
p.Arg518Gly Single submitter Inborn genetic diseases ⚠
p.Arg540Gly Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Arg62Met Single submitter ⚠
p.Asn198Ser Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Asn59Ser Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Asp429Tyr Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Asp47Asn Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Asp47Tyr Single submitter ⚠
p.Asp509Asn Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Asp515Glu Single submitter ⚠
p.Asp587Asn Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Cys10Ser Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Cys55Tyr Single submitter X-linked chondrodysplasia punctata 1 ⚠
p.Cys86Tyr Single submitter ARSL-related disorder ⚠
p.Gln366His Single submitter ⚠
p.Gln542Arg Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Glu324Lys Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Glu359Asp Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Glu407Lys Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Glu451Lys Single submitter Inborn genetic diseases ⚠
p.Glu487Asp Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Glu503fs Single submitter X-linked chondrodysplasia punctata 1
p.Glu585Lys Single submitter Inborn genetic diseases ⚠
p.Gly109Ala Single submitter ⚠
p.Gly320Arg Single submitter Inborn genetic diseases ⚠
p.Gly341Ala Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Gly341Val Single submitter X-linked chondrodysplasia punctata 1 ⚠
p.Gly355Ser Single submitter X-linked chondrodysplasia punctata 1 ⚠
p.Gly356Ser Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Gly386Trp Single submitter ⚠
p.Gly402Ser Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Gly488Arg Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Gly494Arg Single submitter Inborn genetic diseases ⚠
p.Gly57Asp Single submitter Inborn genetic diseases ⚠
p.His250Arg Single submitter Inborn genetic diseases ⚠
p.His450Leu Single submitter ⚠
p.His548Leu Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Ile228Met Single submitter X-linked chondrodysplasia punctata 1 ⚠
p.Ile373Val Single submitter Inborn genetic diseases ⚠
p.Ile50Thr Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Leu15Val Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Leu216Phe Single submitter Inborn genetic diseases ⚠
p.Leu232Phe Single submitter Inborn genetic diseases ⚠
p.Leu232Val Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Leu236Ile Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Leu247Val Single submitter Inborn genetic diseases ⚠
p.Leu276Gln Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Leu304_Thr306del Single submitter X-linked chondrodysplasia punctata 1
p.Lys134Asn Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Met326Ile Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Met474Ile Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Met61Val Single submitter ⚠
p.Phe254Leu Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Pro174Thr Single submitter ⚠
p.Pro390Leu Single submitter ⚠
p.Pro396Leu Single submitter Inborn genetic diseases ⚠
p.Pro486Ser Single submitter Inborn genetic diseases ⚠
p.Pro499Leu Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Pro576Leu Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Ser119Tyr Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Ser187Pro Single submitter ⚠
p.Ser223Leu Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Ser31Arg Single submitter Inborn genetic diseases ⚠
p.Thr210Ile Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Thr262Met Single submitter Inborn genetic diseases ⚠
p.Thr351Met Single submitter ⚠
p.Thr409Arg Single submitter ⚠
p.Thr523Ser Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Thr63Ile Single submitter X-linked chondrodysplasia punctata 1 ⚠
p.Trp466Cys Single submitter ⚠
p.Tyr138Cys Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Tyr242Cys Single submitter Inborn genetic diseases ⚠
p.Val227Phe Single submitter Inborn genetic diseases ⚠
p.Val279Leu Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Val330Ile Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Val426Leu Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Val545Met Single submitter chondrodysplasia punctata, brachytelephalangic, autosomal ⚠
p.Ser345Asn No assertion criteria ⚠