RUNX2 — 560 ClinVar variants
All ClinVar germline RUNX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 173 flagged for review →
100 Pathogenic · 8 Pathogenic/Likely pathogenic · 49 Likely pathogenic · 13 Conflicting · 47 Benign · 9 Benign/Likely benign · 95 Likely benign · 239 Uncertain significance
Full RUNX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 173
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.
- RUNX2 p.Ala362Val Pathogenic Multiple submitters
-
RUNX2 p.Gly363Val
Likely pathogenic
No assertion criteria
cleidocranial dysplasia 1
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RUNX2 p.Arg169Gln
Conflicting
Single submitter
cleidocranial dysplasia 1
-
RUNX2 p.Asn120Lys
Conflicting
Single submitter
cleidocranial dysplasia 1
-
RUNX2 p.Asn177Lys
Conflicting
Single submitter
Inborn genetic diseases
- RUNX2 p.Asn389Ser Conflicting Single submitter
-
RUNX2 p.Gly146Arg
Conflicting
Single submitter
RUNX2-related disorder
-
RUNX2 p.Met175Val
Conflicting
Single submitter
cleidocranial dysplasia 1
-
RUNX2 p.Ser124Trp
Conflicting
Single submitter
cleidocranial dysplasia 1
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.
-
RUNX2 p.Pro488fs
Conflicting
Single submitter
RUNX2-related disorder
Predictors lean, ClinVar uncertain 112
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RUNX2 p.Ala331Gly Uncertain significance Multiple submitters
-
RUNX2 p.Ala414Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RUNX2 p.Arg100Ser
Uncertain significance
Multiple submitters
cleidocranial dysplasia 1
-
RUNX2 p.Arg251His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RUNX2 p.Asp161Asn
Uncertain significance
Multiple submitters
cleidocranial dysplasia 1
-
RUNX2 p.Asp222Asn
Uncertain significance
Multiple submitters
RUNX2-related disorder
-
RUNX2 p.Gly479Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RUNX2 p.Leu168Phe Uncertain significance Multiple submitters
-
RUNX2 p.Leu367Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RUNX2 p.Lys195Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RUNX2 p.Met102Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RUNX2 p.Met175Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RUNX2 p.Pro21Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RUNX2 p.Pro288Leu
Uncertain significance
Multiple submitters
cleidocranial dysplasia 1
-
RUNX2 p.Pro296Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RUNX2 p.Pro457Ser
Uncertain significance
Multiple submitters
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
-
RUNX2 p.Pro460Leu
Uncertain significance
Multiple submitters
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
- RUNX2 p.Ser196Gly Uncertain significance Multiple submitters
-
RUNX2 p.Ser302Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RUNX2 p.Tyr303Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RUNX2 p.Ala171Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Ala211Pro Uncertain significance Single submitter
- RUNX2 p.Ala216Glu Uncertain significance Single submitter
- RUNX2 p.Ala273Pro Uncertain significance Single submitter
- RUNX2 p.Ala291Ser Uncertain significance Single submitter
- RUNX2 p.Ala331Thr Uncertain significance Single submitter
- RUNX2 p.Ala396Val Uncertain significance Single submitter
- RUNX2 p.Ala414Val Uncertain significance Single submitter
- RUNX2 p.Ala48Glu Uncertain significance Single submitter
- RUNX2 p.Arg115Gly Uncertain significance Single submitter
- RUNX2 p.Arg131Leu Uncertain significance Single submitter
- RUNX2 p.Arg131Pro Uncertain significance Single submitter
- RUNX2 p.Arg131Ser Uncertain significance Single submitter
- RUNX2 p.Arg193Leu Uncertain significance Single submitter
- RUNX2 p.Arg228Gly Uncertain significance Single submitter
- RUNX2 p.Arg267Gln Uncertain significance Single submitter
- RUNX2 p.Arg391Gln Uncertain significance Single submitter
-
RUNX2 p.Asn177His
Uncertain significance
Single submitter
cleidocranial dysplasia 1
- RUNX2 p.Asp222Val Uncertain significance Single submitter
- RUNX2 p.Asp495Asn Uncertain significance Single submitter
- RUNX2 p.Gln280Glu Uncertain significance Single submitter
- RUNX2 p.Gln35Leu Uncertain significance Single submitter
-
RUNX2 p.Glu147Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RUNX2 p.Gly151Glu
Uncertain significance
Single submitter
cleidocranial dysplasia 1
-
RUNX2 p.Gly189Arg
Uncertain significance
Single submitter
cleidocranial dysplasia 1
- RUNX2 p.Gly189Asp Uncertain significance Single submitter
- RUNX2 p.Gly37Cys Uncertain significance Single submitter
-
RUNX2 p.Gly428Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Gly448Ser Uncertain significance Single submitter
- RUNX2 p.Gly493Ala Uncertain significance Single submitter
- RUNX2 p.His97Gln Uncertain significance Single submitter
- RUNX2 p.Ile201Thr Uncertain significance Single submitter
- RUNX2 p.Leu126Gln Uncertain significance Single submitter
-
RUNX2 p.Leu145Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Leu34Val Uncertain significance Single submitter
-
RUNX2 p.Lys134Glu
Uncertain significance
Single submitter
cleidocranial dysplasia 1
- RUNX2 p.Lys176Gln Uncertain significance Single submitter
- RUNX2 p.Lys176Ile Uncertain significance Single submitter
- RUNX2 p.Lys218Thr Uncertain significance Single submitter
- RUNX2 p.Met408Val Uncertain significance Single submitter
- RUNX2 p.Pro119Arg Uncertain significance Single submitter
- RUNX2 p.Pro119Thr Uncertain significance Single submitter
- RUNX2 p.Pro127Arg Uncertain significance Single submitter
- RUNX2 p.Pro12Ser Uncertain significance Single submitter
-
RUNX2 p.Pro208Ser
Uncertain significance
Single submitter
cleidocranial dysplasia 1
- RUNX2 p.Pro227Arg Uncertain significance Single submitter
- RUNX2 p.Pro255Ser Uncertain significance Single submitter
-
RUNX2 p.Pro263His
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Pro263Leu Uncertain significance Single submitter
- RUNX2 p.Pro276Arg Uncertain significance Single submitter
-
RUNX2 p.Pro304Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Pro373Ser Uncertain significance Single submitter
-
RUNX2 p.Pro377Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RUNX2 p.Pro402Ser
Uncertain significance
Single submitter
cleidocranial dysplasia 1
- RUNX2 p.Pro424Gln Uncertain significance Single submitter
- RUNX2 p.Pro436Leu Uncertain significance Single submitter
- RUNX2 p.Pro460Ala Uncertain significance Single submitter
- RUNX2 p.Pro466Ser Uncertain significance Single submitter
- RUNX2 p.Pro471Leu Uncertain significance Single submitter
- RUNX2 p.Pro485Ser Uncertain significance Single submitter
- RUNX2 p.Pro485Thr Uncertain significance Single submitter
- RUNX2 p.Ser191Arg Uncertain significance Single submitter
- RUNX2 p.Ser256Thr Uncertain significance Single submitter
-
RUNX2 p.Ser312Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Ser33Cys Uncertain significance Single submitter
- RUNX2 p.Ser354Pro Uncertain significance Single submitter
- RUNX2 p.Ser380Leu Uncertain significance Single submitter
- RUNX2 p.Ser451Leu Uncertain significance Single submitter
- RUNX2 p.Ser516Thr Uncertain significance Single submitter
- RUNX2 p.Thr11Ala Uncertain significance Single submitter
- RUNX2 p.Thr135Ile Uncertain significance Single submitter
-
RUNX2 p.Thr152Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
RUNX2 p.Thr205Ala
Uncertain significance
Single submitter
cleidocranial dysplasia 1
- RUNX2 p.Thr311Met Uncertain significance Single submitter
-
RUNX2 p.Thr327Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Thr439Ala Uncertain significance Single submitter
-
RUNX2 p.Thr439Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Thr476Ile Uncertain significance Single submitter
- RUNX2 p.Thr481Met Uncertain significance Single submitter
- RUNX2 p.Trp130Gly Uncertain significance Single submitter
-
RUNX2 p.Tyr213Cys
Uncertain significance
Single submitter
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
- RUNX2 p.Tyr454Phe Uncertain significance Single submitter
-
RUNX2 p.Val114Ile
Uncertain significance
Single submitter
craniosynostosis
-
RUNX2 p.Val179Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Val219Leu Uncertain significance Single submitter
- RUNX2 p.Val259Ile Uncertain significance Single submitter
-
RUNX2 p.Val404Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Val42Leu Uncertain significance Single submitter
-
RUNX2 p.Val45Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Val517Phe Uncertain significance Single submitter
-
RUNX2 p.Asn170Thr
Uncertain significance
No assertion criteria
RUNX2-related disorder
-
RUNX2 p.Cys123Tyr
Uncertain significance
No assertion criteria
cleidocranial dysplasia 1
Predictors split 51
The independent predictors disagree with each other — read with care.
- RUNX2 p.Arg245His Uncertain significance Multiple submitters
- RUNX2 p.Arg386Cys Uncertain significance Multiple submitters
-
RUNX2 p.Arg92Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RUNX2 p.Asp463Tyr Uncertain significance Multiple submitters
-
RUNX2 p.Met102Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RUNX2 p.Pro30Arg Uncertain significance Multiple submitters
-
RUNX2 p.Pro313Gln
Uncertain significance
Multiple submitters
cleidocranial dysplasia 1
- RUNX2 p.Pro320Leu Uncertain significance Multiple submitters
-
RUNX2 p.Ser256Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RUNX2 p.Arg258Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Arg25Gln Uncertain significance Single submitter
- RUNX2 p.Arg26Pro Uncertain significance Single submitter
-
RUNX2 p.Arg338Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Arg464Trp Uncertain significance Single submitter
- RUNX2 p.Asn99Ile Conflicting Single submitter
-
RUNX2 p.Asp20Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Asp20Tyr Uncertain significance Single submitter
- RUNX2 p.Asp300His Uncertain significance Single submitter
- RUNX2 p.Asp334Asn Uncertain significance Single submitter
-
RUNX2 p.Gln15Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Gln35Lys Uncertain significance Single submitter
- RUNX2 p.Glu112Asp Uncertain significance Single submitter
- RUNX2 p.Gly250Arg Uncertain significance Single submitter
- RUNX2 p.Gly37Arg Uncertain significance Single submitter
- RUNX2 p.Gly448Cys Uncertain significance Single submitter
- RUNX2 p.Gly461Arg Likely benign Single submitter
- RUNX2 p.Gly493Asp Uncertain significance Single submitter
-
RUNX2 p.His214Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Leu367Pro Uncertain significance Single submitter
- RUNX2 p.Met412Thr Uncertain significance Single submitter
- RUNX2 p.Phe376Leu Uncertain significance Single submitter
- RUNX2 p.Phe387Leu Uncertain significance Single submitter
-
RUNX2 p.Phe398Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Pro12Thr Uncertain significance Single submitter
-
RUNX2 p.Pro21Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RUNX2 p.Pro296Leu
Conflicting
Single submitter
cleidocranial dysplasia 1
- RUNX2 p.Pro29Ser Likely benign Single submitter
- RUNX2 p.Pro29Thr Uncertain significance Single submitter
-
RUNX2 p.Pro30His
Uncertain significance
Single submitter
Inborn genetic diseases
-
RUNX2 p.Pro313Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RUNX2 p.Pro336Leu Uncertain significance Single submitter
- RUNX2 p.Ser237Cys Uncertain significance Single submitter
- RUNX2 p.Ser256Arg Uncertain significance Single submitter
- RUNX2 p.Ser441Ile Uncertain significance Single submitter
- RUNX2 p.Ser499Arg Uncertain significance Single submitter
- RUNX2 p.Ser5Thr Uncertain significance Single submitter
- RUNX2 p.Tyr299Cys Uncertain significance Single submitter
- RUNX2 p.Tyr454Cys Uncertain significance Single submitter
- RUNX2 p.Val203Ile Uncertain significance Single submitter
-
RUNX2 p.Val335Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
RUNX2 p.Ser312Phe
Uncertain significance
No assertion criteria
cleidocranial dysplasia 1
All RUNX2 variants
Pathogenic 100
- p.Ala362Val Multiple submitters ⚠
- p.Arg190Gln Multiple submitters cleidocranial dysplasia 1
- p.Arg190Trp Multiple submitters metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
- p.Arg193Ter Multiple submitters cleidocranial dysplasia 1
- p.Arg225Gln Multiple submitters metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
- p.Arg225Trp Multiple submitters RUNX2-related disorder
- p.Arg391Ter Multiple submitters RUNX2-related disorder
- p.Gln290Ter Multiple submitters metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
- p.Ser31fs Multiple submitters RUNX2-related disorder
- p.Thr202fs Multiple submitters
- c.423+1_423+5del Single submitter
- c.423+2T>G Single submitter
- c.424-1G>C Single submitter cleidocranial dysplasia 1
- c.580+1G>A Single submitter
- c.581-1G>A Single submitter cleidocranial dysplasia 1
- c.685+1G>A Single submitter cleidocranial dysplasia 1
- c.859_859+1insACTCT Single submitter cleidocranial dysplasia 1
- p.Ala173fs Single submitter
- p.Ala180Glu Single submitter cleidocranial dysplasia 1
- p.Arg131His Single submitter
- p.Arg186Gly Single submitter
- p.Arg190Leu Single submitter
- p.Arg215fs Single submitter
- p.Arg228fs Single submitter
- p.Arg92fs Single submitter
- p.Asn206fs Single submitter
- p.Gln209Ter Single submitter
- p.Gln280Ter Single submitter
- p.Gln284Ter Single submitter
- p.Gln292fs Single submitter
- p.Gln301Ter Single submitter cleidocranial dysplasia 1
- p.Gln309Ter Single submitter
- p.Gln361Ter Single submitter cleidocranial dysplasia 1
- p.Gln438fs Single submitter cleidocranial dysplasia 1
- p.Gln59fs Single submitter
- p.Gly146Ter Single submitter cleidocranial dysplasia 1
- p.Gly223Glu Single submitter
- p.Gly407fs Single submitter
- p.Gly462fs Single submitter cleidocranial dysplasia 1
- p.Gly462Ter Single submitter
- p.His214fs Single submitter
- p.His316fs Single submitter
- p.Ile252fs Single submitter RUNX2-related disorder
- p.Ile285fs Single submitter
- p.Leu122Pro Single submitter
- p.Leu136fs Single submitter cleidocranial dysplasia 1
- p.Leu136Pro Single submitter
- p.Leu185fs Single submitter
- p.Leu246= Single submitter cleidocranial dysplasia 1
- p.Leu329fs Single submitter
- p.Leu382fs Single submitter
- p.Leu93Ter Single submitter
- p.Lys218Glu Single submitter
- p.Lys359fs Single submitter
- p.Met1Ile Single submitter
- p.Phe187Ser Single submitter
- p.Phe197Ser Single submitter
- p.Phe398fs Single submitter cleidocranial dysplasia 1
- p.Pro110fs Single submitter
- p.Pro127Leu Single submitter
- p.Pro295fs Single submitter cleidocranial dysplasia 1
- p.Pro313fs Single submitter
- p.Pro320fs Single submitter cleidocranial dysplasia 1
- p.Ser124Ter Single submitter cleidocranial dysplasia 1
- p.Ser247fs Single submitter cleidocranial dysplasia 1
- p.Ser256fs Single submitter
- p.Ser275fs Single submitter Inborn genetic diseases
- p.Ser28fs Single submitter
- p.Ser305fs Single submitter
- p.Ser357fs Single submitter
- p.Ser451fs Single submitter
- p.Thr101fs Single submitter cleidocranial dysplasia 1
- p.Thr416fs Single submitter
- p.Trp130Arg Single submitter
- p.Trp130Ter Single submitter
- p.Trp518fs Single submitter
- p.Tyr299fs Single submitter
- p.Tyr303Ter Single submitter
- p.Tyr306fs Single submitter
- p.Tyr394Ter Single submitter RUNX2-related disorder
- p.Tyr400Ter Single submitter
- p.Tyr421Ter Single submitter
- p.Tyr426fs Single submitter
- p.Val138fs Single submitter
- p.Val142fs Single submitter
- p.Val153fs Single submitter cleidocranial dysplasia 1
- p.Val179fs Single submitter
- p.Val404fs Single submitter
- p.Val517fs Single submitter
- c.(58+1_59-269 No assertion criteria metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
- p.Arg169Pro No assertion criteria cleidocranial dysplasia 1
- p.Gly428fs No assertion criteria cleidocranial dysplasia 1
- p.Leu410fs No assertion criteria cleidocranial dysplasia 1
- p.Pro403fs No assertion criteria cleidocranial dysplasia 1
- p.Ter522Ser No assertion criteria cleidocranial dysplasia 1
- p.Thr11fs No assertion criteria cleidocranial dysplasia 1
- p.Thr198_Leu199insTer No assertion criteria cleidocranial dysplasia 1
- p.Trp297Ter No assertion criteria cleidocranial dysplasia 1
- p.Tyr213fs No assertion criteria cleidocranial dysplasia 1
- p.Val148fs No assertion criteria cleidocranial dysplasia 1
Pathogenic/Likely pathogenic 8
- c.860-1G>T Multiple submitters
- p.Arg169Trp Multiple submitters cleidocranial dysplasia 1
- p.Arg193Gln Multiple submitters cleidocranial dysplasia 1
- p.Asp463fs Multiple submitters RUNX2-related disorder
- p.Gln264Ter Multiple submitters RUNX2-related disorder
- p.Gly159Asp Multiple submitters cleidocranial dysplasia 1
- p.Thr200Ala Multiple submitters RUNX2-related disorder
- p.Thr220Ile Multiple submitters RUNX2-related disorder
Likely pathogenic 49
- c.860-1G>A Multiple submitters cleidocranial dysplasia 1
- c.1021+2T>C Single submitter cleidocranial dysplasia 1
- c.1088-1G>A Single submitter
- c.1088-2A>C Single submitter
- c.424-1G>A Single submitter
- c.424-1G>T Single submitter
- c.424-2A>G Single submitter
- c.581-2A>C Single submitter
- c.581-2del Single submitter
- c.59-2A>G Single submitter
- c.685+1G>C Single submitter
- c.686-1G>A Single submitter
- c.686-2A>G Single submitter
- c.859+1G>C Single submitter RUNX2-related disorder
- p.Ala166fs Single submitter
- p.Ala180Pro Single submitter RUNX2-related disorder
- p.Arg100fs Single submitter RUNX2-related disorder
- p.Arg131Cys Single submitter RUNX2-related disorder
- p.Arg131Gly Single submitter
- p.Asn120fs Single submitter cleidocranial dysplasia 1
- p.Asn160Lys Single submitter
- p.Asp222Gly Single submitter
- p.Asp222His Single submitter
- p.Asp348fs Single submitter
- p.Cys350fs Single submitter cleidocranial dysplasia 1
- p.Gln209fs Single submitter cleidocranial dysplasia 1
- p.Gly461fs Single submitter RUNX2-related disorder
- p.His129Arg Single submitter
- p.Ile217Ser Single submitter
- p.Leu122fs Single submitter RUNX2-related disorder
- p.Leu199Phe Single submitter
- p.Lys134Thr Single submitter
- p.Lys218Gln Single submitter RUNX2-related disorder
- p.Lys38fs Single submitter RUNX2-related disorder
- p.Met175Arg Single submitter cleidocranial dysplasia 1
- p.Phe187fs Single submitter cleidocranial dysplasia 1
- p.Phe376fs Single submitter cleidocranial dysplasia 1
- p.Pro127Ser Single submitter
- p.Ser118Arg Single submitter
- p.Ser191Asn Single submitter cleidocranial dysplasia 1
- p.Ser191Cys Single submitter RUNX2-related disorder
- p.Ser191Gly Single submitter cleidocranial dysplasia 1
- p.Ser365Ter Single submitter cleidocranial dysplasia 1
- p.Ser409fs Single submitter cleidocranial dysplasia 1
- p.Tyr454fs Single submitter RUNX2-related disorder
- p.Val156Asp Single submitter
- c.423+2del No assertion criteria cleidocranial dysplasia 1
- p.Gly363Val No assertion criteria cleidocranial dysplasia 1 ⚠
- p.Met257fs No assertion criteria nephrotic syndrome
Conflicting classifications of pathogenicity 13
- c.*2619A>G Single submitter cleidocranial dysplasia 1
- c.*2845A>C Single submitter cleidocranial dysplasia 1
- p.Arg169Gln Single submitter cleidocranial dysplasia 1 ⚠
- p.Asn120Lys Single submitter cleidocranial dysplasia 1 ⚠
- p.Asn177Lys Single submitter Inborn genetic diseases ⚠
- p.Asn389Ser Single submitter ⚠
- p.Asn99Ile Single submitter ⚠
- p.Gly146Arg Single submitter RUNX2-related disorder ⚠
- p.Met175Val Single submitter cleidocranial dysplasia 1 ⚠
- p.Pro296Leu Single submitter cleidocranial dysplasia 1 ⚠
- p.Pro488fs Single submitter RUNX2-related disorder ⚠
- p.Ser124Trp Single submitter cleidocranial dysplasia 1 ⚠
- p.Thr476= Single submitter
Benign 47
- c.423+17C>T Multiple submitters
- p.Asn183= Multiple submitters
- c.1021+13C>A Single submitter
- c.1021+46G>A Single submitter
- c.1022-299G>C Single submitter
- c.423+146_423+147dup Single submitter
- c.423+22dup Single submitter
- c.423+255G>C Single submitter
- c.423+268C>T Single submitter
- c.58+97T>C Single submitter
- c.580+12A>G Single submitter
- c.581-94A>T Single submitter
- c.59-1041T>C Single submitter
- c.59-672T>A Single submitter
- c.685+11C>T Single submitter
- c.686-264C>T Single submitter
- c.860-226T>G Single submitter
- c.-120T>C Single submitter cleidocranial dysplasia 1
- c.-64T>C Single submitter cleidocranial dysplasia 1
- c.*1084C>A Single submitter cleidocranial dysplasia 1
- c.*1133A>T Single submitter cleidocranial dysplasia 1
- c.*1448C>T Single submitter cleidocranial dysplasia 1
- c.*1534T>C Single submitter cleidocranial dysplasia 1
- c.*1762G>C Single submitter cleidocranial dysplasia 1
- c.*1859A>G Single submitter cleidocranial dysplasia 1
- c.*1919C>T Single submitter cleidocranial dysplasia 1
- c.*2001G>A Single submitter cleidocranial dysplasia 1
- c.*2199A>G Single submitter cleidocranial dysplasia 1
- c.*2274C>T Single submitter cleidocranial dysplasia 1
- c.*2612C>G Single submitter cleidocranial dysplasia 1
- c.*2657T>G Single submitter cleidocranial dysplasia 1
- c.*2826G>A Single submitter cleidocranial dysplasia 1
- c.*3030C>T Single submitter cleidocranial dysplasia 1
- c.*304G>A Single submitter cleidocranial dysplasia 1
- c.*3159C>T Single submitter cleidocranial dysplasia 1
- c.*3160G>T Single submitter cleidocranial dysplasia 1
- c.*318C>T Single submitter cleidocranial dysplasia 1
- c.*3345G>A Single submitter cleidocranial dysplasia 1
- c.*3426C>T Single submitter cleidocranial dysplasia 1
- c.*3592A>G Single submitter cleidocranial dysplasia 1
- c.*47C>T Single submitter cleidocranial dysplasia 1
- c.*599T>G Single submitter cleidocranial dysplasia 1
- c.*801G>A Single submitter cleidocranial dysplasia 1
- p.Glu112= Single submitter
- p.Thr116= Single submitter
- c.685+26426G>A No assertion criteria RUNX2-related disorder
- c.685+26477C>T No assertion criteria RUNX2-related disorder
Benign/Likely benign 9
- c.1087+17T>C Multiple submitters
- c.423+39G>C Multiple submitters cleidocranial dysplasia 1
- c.581-9T>C Multiple submitters cleidocranial dysplasia 1
- c.859+10A>T Multiple submitters cleidocranial dysplasia 1
- c.-11_-9del Multiple submitters
- c.*278G>A Multiple submitters cleidocranial dysplasia 1
- p.Gly511Ser Multiple submitters cleidocranial dysplasia 1
- p.Thr311= Multiple submitters cleidocranial dysplasia 1
- p.Val221= Multiple submitters cleidocranial dysplasia 1
Likely benign 95
- c.423+20C>A Multiple submitters
- c.59-242G>T Multiple submitters
- c.859+252G>A Multiple submitters
- p.Arg92= Multiple submitters
- p.Asn478= Multiple submitters
- p.Ser380= Multiple submitters
- c.1021+10G>A Single submitter
- c.1021+11T>C Single submitter
- c.1021+200C>T Single submitter
- c.1021+9C>T Single submitter
- c.1022-16C>T Single submitter
- c.1022-4A>G Single submitter
- c.1087+14C>A Single submitter
- c.1087+14C>T Single submitter
- c.1087+20C>T Single submitter
- c.1087+231C>T Single submitter
- c.1087+31_1087+50dup Single submitter
- c.423+18C>T Single submitter
- c.423+279C>T Single submitter
- c.58+18T>A Single submitter
- c.58+7G>A Single submitter
- c.58+9T>C Single submitter
- c.580+11G>C Single submitter
- c.581-15C>T Single submitter
- c.581-16C>A Single submitter
- c.581-5T>C Single submitter
- c.59-10A>T Single submitter
- c.59-12G>A Single submitter
- c.59-19G>T Single submitter
- c.59-489G>A Single submitter
- c.59-6C>T Single submitter
- c.685+17T>C Single submitter
- c.685+18T>C Single submitter
- c.686-310_686-309insGT Single submitter
- c.860-194C>T Single submitter
- c.-66T>C Single submitter
- c.*2479C>A Single submitter cleidocranial dysplasia 1
- p.Arg100= Single submitter
- p.Arg190= Single submitter
- p.Arg229= Single submitter
- p.Arg391= Single submitter
- p.Asn160= Single submitter
- p.Asn206= Single submitter
- p.Asn4= Single submitter
- p.Asp222= Single submitter
- p.Asp287= Single submitter
- p.Asp497= Single submitter
- p.Gln490= Single submitter
- p.Gly328= Single submitter
- p.Gly452= Single submitter
- p.Gly461Arg Single submitter ⚠
- p.Gly498= Single submitter
- p.His419= Single submitter
- p.Ile315= Single submitter
- p.Leu199= Single submitter
- p.Leu307= Single submitter
- p.Leu356= Single submitter
- p.Leu410= Single submitter
- p.Leu482= Single submitter
- p.Lys238= Single submitter
- p.Lys359= Single submitter
- p.Pro137= Single submitter
- p.Pro21= Single submitter
- p.Pro239= Single submitter
- p.Pro29= Single submitter
- p.Pro295= Single submitter
- p.Pro296= Single submitter
- p.Pro29Ser Single submitter ⚠
- p.Pro313= Single submitter
- p.Pro320= Single submitter
- p.Pro402= Single submitter
- p.Pro425= Single submitter
- p.Pro427= Single submitter
- p.Pro443= Single submitter
- p.Pro471= Single submitter
- p.Pro91= Single submitter
- p.Pro95= Single submitter
- p.Pro96= Single submitter
- p.Ser413= Single submitter
- p.Ser43= Single submitter
- p.Ser441= Single submitter
- p.Ser450= Single submitter
- p.Ser477= Single submitter
- p.Thr101= Single submitter
- p.Thr135= Single submitter
- p.Thr220= Single submitter
- p.Thr23= Single submitter
- p.Thr324= Single submitter
- p.Thr333= Single submitter
- p.Thr355Ile Single submitter
- p.Thr405= Single submitter
- p.Thr449= Single submitter
- p.Thr481= Single submitter
- p.Tyr521= Single submitter
- p.Val153= Single submitter
Uncertain significance 239
- c.1022-67T>A Multiple submitters Inborn genetic diseases
- c.*701C>G Multiple submitters cleidocranial dysplasia 1
- p.Ala331Gly Multiple submitters ⚠
- p.Ala414Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg100Ser Multiple submitters cleidocranial dysplasia 1 ⚠
- p.Arg245His Multiple submitters ⚠
- p.Arg251His Multiple submitters Inborn genetic diseases ⚠
- p.Arg338His Multiple submitters Inborn genetic diseases
- p.Arg386Cys Multiple submitters ⚠
- p.Arg92Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asp161Asn Multiple submitters cleidocranial dysplasia 1 ⚠
- p.Asp222Asn Multiple submitters RUNX2-related disorder ⚠
- p.Asp463Tyr Multiple submitters ⚠
- p.Gln301Arg Multiple submitters Inborn genetic diseases
- p.Gly479Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu168Phe Multiple submitters ⚠
- p.Leu367Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys195Met Multiple submitters Inborn genetic diseases ⚠
- p.Met102Leu Multiple submitters Inborn genetic diseases ⚠
- p.Met102Val Multiple submitters Inborn genetic diseases ⚠
- p.Met175Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro21Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro288Leu Multiple submitters cleidocranial dysplasia 1 ⚠
- p.Pro295Leu Multiple submitters Inborn genetic diseases
- p.Pro296Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro30Ala Multiple submitters
- p.Pro30Arg Multiple submitters ⚠
- p.Pro313Gln Multiple submitters cleidocranial dysplasia 1 ⚠
- p.Pro320Leu Multiple submitters ⚠
- p.Pro457Ser Multiple submitters metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ⚠
- p.Pro460Leu Multiple submitters metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ⚠
- p.Ser196Gly Multiple submitters ⚠
- p.Ser256Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser302Ala Multiple submitters Inborn genetic diseases ⚠
- p.Tyr303Phe Multiple submitters Inborn genetic diseases ⚠
- c.1021+3A>T Single submitter
- c.1022-3C>A Single submitter
- c.1087+1G>A Single submitter cleidocranial dysplasia 1
- c.1087+5G>A Single submitter
- c.423+16_423+17delinsCT Single submitter
- c.423+3A>G Single submitter
- c.580+5G>A Single submitter cleidocranial dysplasia 1
- c.685+3A>G Single submitter
- c.685+5G>C Single submitter
- c.686-7T>G Single submitter
- c.859+3A>G Single submitter
- c.859+4A>G Single submitter
- c.859+5G>A Single submitter
- c.-40C>T Single submitter cleidocranial dysplasia 1
- c.*1174A>C Single submitter cleidocranial dysplasia 1
- c.*1278T>C Single submitter cleidocranial dysplasia 1
- c.*1376C>T Single submitter cleidocranial dysplasia 1
- c.*1415G>T Single submitter cleidocranial dysplasia 1
- c.*1455C>T Single submitter cleidocranial dysplasia 1
- c.*1549T>A Single submitter cleidocranial dysplasia 1
- c.*155A>G Single submitter cleidocranial dysplasia 1
- c.*1648T>C Single submitter cleidocranial dysplasia 1
- c.*1673G>A Single submitter cleidocranial dysplasia 1
- c.*1684G>C Single submitter cleidocranial dysplasia 1
- c.*1696C>T Single submitter cleidocranial dysplasia 1
- c.*1708T>C Single submitter cleidocranial dysplasia 1
- c.*1816C>G Single submitter cleidocranial dysplasia 1
- c.*1876A>T Single submitter cleidocranial dysplasia 1
- c.*1917G>T Single submitter cleidocranial dysplasia 1
- c.*1948G>A Single submitter cleidocranial dysplasia 1
- c.*2236T>G Single submitter cleidocranial dysplasia 1
- c.*2263C>T Single submitter orofacial cleft 1
- c.*2318A>T Single submitter cleidocranial dysplasia 1
- c.*2381C>T Single submitter cleidocranial dysplasia 1
- c.*2382G>A Single submitter cleidocranial dysplasia 1
- c.*2435T>C Single submitter cleidocranial dysplasia 1
- c.*2520T>C Single submitter cleidocranial dysplasia 1
- c.*2622G>C Single submitter cleidocranial dysplasia 1
- c.*262A>G Single submitter cleidocranial dysplasia 1
- c.*2786A>G Single submitter cleidocranial dysplasia 1
- c.*2880C>A Single submitter cleidocranial dysplasia 1
- c.*2890A>G Single submitter cleidocranial dysplasia 1
- c.*3047A>C Single submitter cleidocranial dysplasia 1
- c.*3052C>A Single submitter cleidocranial dysplasia 1
- c.*3111T>C Single submitter cleidocranial dysplasia 1
- c.*3329T>C Single submitter cleidocranial dysplasia 1
- c.*3543T>A Single submitter cleidocranial dysplasia 1
- c.*3605C>T Single submitter cleidocranial dysplasia 1
- c.*3642C>T Single submitter cleidocranial dysplasia 1
- c.*3693A>G Single submitter cleidocranial dysplasia 1
- c.*549C>T Single submitter cleidocranial dysplasia 1
- c.*56A>G Single submitter cleidocranial dysplasia 1
- c.*608T>C Single submitter cleidocranial dysplasia 1
- c.*69G>T Single submitter cleidocranial dysplasia 1
- c.*794T>C Single submitter cleidocranial dysplasia 1
- c.*881A>G Single submitter cleidocranial dysplasia 1
- c.*967T>C Single submitter cleidocranial dysplasia 1
- p.Ala171Gly Single submitter Inborn genetic diseases ⚠
- p.Ala211Pro Single submitter ⚠
- p.Ala216Glu Single submitter ⚠
- p.Ala273Pro Single submitter ⚠
- p.Ala291Ser Single submitter ⚠
- p.Ala331Thr Single submitter ⚠
- p.Ala396Val Single submitter ⚠
- p.Ala414Val Single submitter ⚠
- p.Ala48Glu Single submitter ⚠
- p.Arg115Gly Single submitter ⚠
- p.Arg131Leu Single submitter ⚠
- p.Arg131Pro Single submitter ⚠
- p.Arg131Ser Single submitter ⚠
- p.Arg193Leu Single submitter ⚠
- p.Arg225Gly Single submitter
- p.Arg228Gly Single submitter ⚠
- p.Arg258Ser Single submitter Inborn genetic diseases ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg267Trp Single submitter
- p.Arg26Pro Single submitter ⚠
- p.Arg338Cys Single submitter Inborn genetic diseases ⚠
- p.Arg391Gln Single submitter ⚠
- p.Arg464Trp Single submitter ⚠
- p.Arg519Ter Single submitter
- p.Asn177His Single submitter cleidocranial dysplasia 1 ⚠
- p.Asp20Ala Single submitter Inborn genetic diseases ⚠
- p.Asp20Tyr Single submitter ⚠
- p.Asp222Val Single submitter ⚠
- p.Asp287Gly Single submitter
- p.Asp300His Single submitter ⚠
- p.Asp334Asn Single submitter ⚠
- p.Asp372Glu Single submitter Inborn genetic diseases
- p.Asp495Asn Single submitter ⚠
- p.Gln14Lys Single submitter
- p.Gln15Lys Single submitter Inborn genetic diseases ⚠
- p.Gln280Glu Single submitter ⚠
- p.Gln35Leu Single submitter ⚠
- p.Gln35Lys Single submitter ⚠
- p.Gln375Lys Single submitter Inborn genetic diseases
- p.Gln63_Gln71dup Single submitter
- p.Glu112Asp Single submitter ⚠
- p.Glu147Lys Single submitter Inborn genetic diseases ⚠
- p.Gly151Glu Single submitter cleidocranial dysplasia 1 ⚠
- p.Gly189Arg Single submitter cleidocranial dysplasia 1 ⚠
- p.Gly189Asp Single submitter ⚠
- p.Gly250Arg Single submitter ⚠
- p.Gly326Val Single submitter
- p.Gly37Arg Single submitter ⚠
- p.Gly37Cys Single submitter ⚠
- p.Gly428Ser Single submitter Inborn genetic diseases ⚠
- p.Gly448Cys Single submitter ⚠
- p.Gly448Ser Single submitter ⚠
- p.Gly493Ala Single submitter ⚠
- p.Gly493Asp Single submitter ⚠
- p.His214Gln Single submitter Inborn genetic diseases ⚠
- p.His97Gln Single submitter ⚠
- p.Ile201Thr Single submitter ⚠
- p.Leu126del Single submitter
- p.Leu126Gln Single submitter ⚠
- p.Leu145Phe Single submitter Inborn genetic diseases ⚠
- p.Leu34Val Single submitter ⚠
- p.Leu367Pro Single submitter ⚠
- p.Lys134Glu Single submitter cleidocranial dysplasia 1 ⚠
- p.Lys176Gln Single submitter ⚠
- p.Lys176Ile Single submitter ⚠
- p.Lys218Thr Single submitter ⚠
- p.Met157_Ala158delinsAsnPro Single submitter
- p.Met408Val Single submitter ⚠
- p.Met412Thr Single submitter ⚠
- p.Phe18= Single submitter cleidocranial dysplasia 1
- p.Phe376Leu Single submitter ⚠
- p.Phe387Leu Single submitter ⚠
- p.Phe398Leu Single submitter Inborn genetic diseases ⚠
- p.Pro119Arg Single submitter ⚠
- p.Pro119Thr Single submitter ⚠
- p.Pro127Arg Single submitter ⚠
- p.Pro12Ser Single submitter ⚠
- p.Pro12Thr Single submitter ⚠
- p.Pro208Ser Single submitter cleidocranial dysplasia 1 ⚠
- p.Pro21Leu Single submitter Inborn genetic diseases ⚠
- p.Pro227Arg Single submitter ⚠
- p.Pro255Ser Single submitter ⚠
- p.Pro263His Single submitter Inborn genetic diseases ⚠
- p.Pro263Leu Single submitter ⚠
- p.Pro276Arg Single submitter ⚠
- p.Pro29Thr Single submitter ⚠
- p.Pro304Ser Single submitter Inborn genetic diseases ⚠
- p.Pro30His Single submitter Inborn genetic diseases ⚠
- p.Pro313Arg Single submitter Inborn genetic diseases ⚠
- p.Pro336Leu Single submitter ⚠
- p.Pro373Ser Single submitter ⚠
- p.Pro377Thr Single submitter Inborn genetic diseases ⚠
- p.Pro402Leu Single submitter
- p.Pro402Ser Single submitter cleidocranial dysplasia 1 ⚠
- p.Pro424Gln Single submitter ⚠
- p.Pro436Leu Single submitter ⚠
- p.Pro460Ala Single submitter ⚠
- p.Pro466Ser Single submitter ⚠
- p.Pro471Leu Single submitter ⚠
- p.Pro485Ser Single submitter ⚠
- p.Pro485Thr Single submitter ⚠
- p.Ser191Arg Single submitter ⚠
- p.Ser237Cys Single submitter ⚠
- p.Ser256Arg Single submitter ⚠
- p.Ser256Thr Single submitter ⚠
- p.Ser269Tyr Single submitter
- p.Ser312Thr Single submitter Inborn genetic diseases ⚠
- p.Ser33Cys Single submitter ⚠
- p.Ser354Pro Single submitter ⚠
- p.Ser380Leu Single submitter ⚠
- p.Ser441Ile Single submitter ⚠
- p.Ser451Leu Single submitter ⚠
- p.Ser499Arg Single submitter ⚠
- p.Ser516Thr Single submitter ⚠
- p.Ser5Thr Single submitter ⚠
- p.Thr11Ala Single submitter ⚠
- p.Thr135Ile Single submitter ⚠
- p.Thr152Ile Single submitter Inborn genetic diseases ⚠
- p.Thr205Ala Single submitter cleidocranial dysplasia 1 ⚠
- p.Thr311Met Single submitter ⚠
- p.Thr327Ser Single submitter Inborn genetic diseases ⚠
- p.Thr439Ala Single submitter ⚠
- p.Thr439Pro Single submitter Inborn genetic diseases ⚠
- p.Thr476Ile Single submitter ⚠
- p.Thr481Met Single submitter ⚠
- p.Thr505Ala Single submitter
- p.Trp130Gly Single submitter ⚠
- p.Tyr213Cys Single submitter metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ⚠
- p.Tyr299Cys Single submitter ⚠
- p.Tyr454Cys Single submitter ⚠
- p.Tyr454Phe Single submitter ⚠
- p.Val114Ile Single submitter craniosynostosis ⚠
- p.Val179Leu Single submitter Inborn genetic diseases ⚠
- p.Val203Ile Single submitter ⚠
- p.Val219Leu Single submitter ⚠
- p.Val259Ile Single submitter ⚠
- p.Val335Ala Single submitter Inborn genetic diseases ⚠
- p.Val404Ile Single submitter Inborn genetic diseases ⚠
- p.Val42Leu Single submitter ⚠
- p.Val45Gly Single submitter Inborn genetic diseases ⚠
- p.Val517Phe Single submitter ⚠
- c.685+26444A>G No assertion criteria RUNX2-related disorder
- c.685+5G>A No assertion criteria cleidocranial dysplasia 1
- p.Asn170Thr No assertion criteria RUNX2-related disorder ⚠
- p.Cys123Tyr No assertion criteria cleidocranial dysplasia 1 ⚠
- p.Ser312Phe No assertion criteria cleidocranial dysplasia 1 ⚠