Total 33 pathogenic variants reported for Fibrous dysplasia of jaw 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu) SNV
Germline
Chr4:2831582 Pathogenic/Likely pathogenic Fibrous dysplasia of jaw Criteria Provided
Multiple Submitters
No Conflicts
CA254206 rs_121909146

4 SubmittersRCV000007983

NM_001122681.2(SH3BP2):c.1253C>G (p.Pro418Arg) SNV
Germline
Chr4:2831582 Pathogenic Fibrous dysplasia of jaw
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA254207 rs_121909146

5 SubmittersRCV000007984RCV000486508

NM_001122681.2(SH3BP2):c.1253C>A (p.Pro418His) SNV
Germline
Chr4:2831582 Pathogenic Fibrous dysplasia of jaw Criteria Provided
Single Submitter
CA254208 rs_121909146

2 SubmittersRCV000007985

NM_001122681.2(SH3BP2):c.1244G>C (p.Arg415Pro) SNV
Germline
Chr4:2831573 Pathogenic Fibrous dysplasia of jaw No Assertion Criteria Provided
CA254209 rs_121909149

1 SubmittersRCV000007986

NM_001122681.2(SH3BP2):c.1244G>A (p.Arg415Gln) SNV
Germline
Chr4:2831573 Pathogenic Fibrous dysplasia of jaw
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA254210 rs_121909149

3 SubmittersRCV000007987RCV003886359

NM_001122681.2(SH3BP2):c.1258G>C (p.Gly420Arg) SNV
Germline
Chr4:2831587 Pathogenic Fibrous dysplasia of jaw No Assertion Criteria Provided
CA254211 rs_28938170

1 SubmittersRCV000007988

NM_001122681.2(SH3BP2):c.1252C>T (p.Pro418Ser) SNV
Germline
Chr4:2831581 Pathogenic Condition: not provided
Fibrous dysplasia of jaw
Criteria Provided
Single Submitter
CA10602925 rs_757336022

2 SubmittersRCV000293867RCV001261155

NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu) SNV
Germline
Chr4:2827241 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw Criteria Provided
Conflicting Classifications
CA2819177 rs_150461713

2 SubmittersRCV000261336

NM_001122681.2(SH3BP2):c.497C>T (p.Pro166Leu) SNV
Germline
Chr4:2827298 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw Criteria Provided
Conflicting Classifications
CA2819192 rs_567769591

2 SubmittersRCV000320509

NM_001122681.2(SH3BP2):c.1150C>T (p.Arg384Trp) SNV
Germline
Chr4:2830056 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw Criteria Provided
Conflicting Classifications
CA2819399 rs_529543434

2 SubmittersRCV000298519

NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp) SNV
Germline
Chr4:2827273 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2819186 rs_200463050

3 SubmittersRCV000265353RCV002520235

NM_001122681.2(SH3BP2):c.517+5G>A SNV
Germline
Chr4:2827323 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw
SH3BP2-related disorder
Criteria Provided
Conflicting Classifications
CA2819199 rs_367984149

3 SubmittersRCV000379691RCV003392216

NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=) SNV
Germline
Chr4:2827673 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw Criteria Provided
Conflicting Classifications
CA2819248 rs_200156713

2 SubmittersRCV000380701

NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg) SNV
Germline
Chr4:2830029 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw Criteria Provided
Conflicting Classifications
CA2819390 rs_375094936

2 SubmittersRCV000352048

NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu) SNV
Germline
Chr4:2831939 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2819496 rs_199818232

4 SubmittersRCV000264563RCV002520237RCV003480615

NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val) SNV
Germline
Chr4:2829562 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw
SH3BP2-related disorder
Criteria Provided
Conflicting Classifications
CA2819290 rs_150572069

3 SubmittersRCV000346025RCV003950228

NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) SNV
Germline
Chr4:2829843 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2819361 rs_141518457

6 SubmittersRCV000292514RCV004021961RCV003238756

NM_001122681.2(SH3BP2):c.1141G>A (p.Val381Met) SNV
Germline
Chr4:2830047 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2819397 rs_201966956

3 SubmittersRCV000400486RCV002520236

NM_001122681.2(SH3BP2):c.1351-13C>T SNV
Germline
Chr4:2831910 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw Criteria Provided
Conflicting Classifications
CA10620911 rs_367963191

2 SubmittersRCV000359285

NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) SNV
Germline
Chr4:2833015 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw Criteria Provided
Conflicting Classifications
CA2819599 rs_144577122

3 SubmittersRCV000269056

NM_001122681.2(SH3BP2):c.1258G>A (p.Gly420Arg) SNV
Germline
Chr4:2831587 Pathogenic Condition: not provided
Fibrous dysplasia of jaw
Criteria Provided
Multiple Submitters
No Conflicts
CA16042561 rs_28938170

2 SubmittersRCV000414728RCV002523913

NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val) SNV
Germline
Chr4:2820651 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw Criteria Provided
Conflicting Classifications
CA2818886 rs_148117486

3 SubmittersRCV000629249

NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp) SNV
Germline
Chr4:2832386 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw Criteria Provided
Conflicting Classifications
rs_373554386

2 SubmittersRCV000693032

NM_001122681.2(SH3BP2):c.1481C>T (p.Ser494Leu) SNV
Germline
Chr4:2832405 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_377411211

2 SubmittersRCV000688436RCV004026295

NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter) SNV
Germline
Chr4:2831572 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_141262371

3 SubmittersRCV000817519RCV001509230

NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln) SNV
Germline
Chr4:2833803 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw
Inborn genetic diseases
SH3BP2-related disorder
Criteria Provided
Conflicting Classifications
rs_374608155

4 SubmittersRCV000820362RCV002537465RCV003396442

NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=) SNV
Germline
Chr4:2829656 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw Criteria Provided
Conflicting Classifications
rs_231399

2 SubmittersRCV001052147

NM_001122681.2(SH3BP2):c.868G>A (p.Gly290Ser) SNV
Germline
Chr4:2829774 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_757550176

2 SubmittersRCV001038582RCV002551427

NM_001122681.2(SH3BP2):c.1252C>A (p.Pro418Thr) SNV
Germline
Chr4:2831581 Pathogenic/Likely pathogenic Fibrous dysplasia of jaw Criteria Provided
Multiple Submitters
No Conflicts
rs_757336022

2 SubmittersRCV001070686

NM_001122681.2(SH3BP2):c.166C>T (p.Arg56Cys) SNV
Germline
Chr4:2822964 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw Criteria Provided
Conflicting Classifications
rs_758096402

2 SubmittersRCV001149632

NM_001122681.2(SH3BP2):c.1259G>C (p.Gly420Ala) SNV
Germline
Chr4:2831588 Likely pathogenic Fibrous dysplasia of jaw No Assertion Criteria Provided
rs_28938171

1 SubmittersRCV002052435

NM_001122681.2(SH3BP2):c.172G>A (p.Val58Ile) SNV
Germline
Chr4:2822970 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003088189RCV003358090

NM_001122681.2(SH3BP2):c.694G>A (p.Gly232Ser) SNV
Germline
Chr4:2829600 Conflicting classifications of pathogenicity Fibrous dysplasia of jaw
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002939069RCV003269340