Total 19 pathogenic variants reported for Osteofibrous dysplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000245.4(MET):c.103A>T (p.Met35Leu) SNV
Germline		 Chr7:116699187 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Osteofibrous dysplasia
Renal cell carcinoma
Condition: not provided
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA160424 rs_375353223

7 SubmittersRCV000121342RCV000567367RCV001292685RCV001391320RCV001548349RCV003492526
NM_000245.4(MET):c.406G>A (p.Val136Ile) SNV
Germline		 Chr7:116699490 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Condition: not provided
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Breast carcinoma
Renal cell carcinoma
MET-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA167281 rs_199701987

12 SubmittersRCV000130870RCV000199439RCV000484898RCV000515234RCV001262296RCV001328509RCV003415953RCV003320572
NM_000245.4(MET):c.1081G>T (p.Ala361Ser) SNV
Germline		 Chr7:116700165 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97		 Criteria Provided
Conflicting Classifications
 CA192400 rs_786202310

4 SubmittersRCV000165054RCV001218524RCV002498817RCV003468731
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) SNV
Germline		 Chr7:116740993 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Hepatocellular carcinoma
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Renal cell carcinoma
Condition: not provided
MET-related disorder
Autosomal recessive nonsyndromic hearing loss 97		 Criteria Provided
Conflicting Classifications
 CA188720 rs_374733251

8 SubmittersRCV000163595RCV000167933RCV000765920RCV001293448RCV001812140RCV003398834RCV003467280
NM_000245.4(MET):c.2555T>A (p.Met852Lys) SNV
Germline		 Chr7:116763240 Conflicting classifications of pathogenicity Renal cell carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Osteofibrous dysplasia
Autosomal recessive nonsyndromic hearing loss 97
not specified		 Criteria Provided
Conflicting Classifications
 CA349639 rs_369758288

5 SubmittersRCV000205486RCV001775668RCV002433900RCV002503800RCV003493494
NM_000245.4(MET):c.1336A>G (p.Ile446Val) SNV
Germline		 Chr7:116731803 Conflicting classifications of pathogenicity Renal cell carcinoma
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4448135 rs_779022887

4 SubmittersRCV000239364RCV002487111RCV000574879RCV003114412
NM_000245.4(MET):c.2971C>T (p.Pro991Ser) SNV
Germline		 Chr7:116771932 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Osteofibrous dysplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4448619 rs_768678989

5 SubmittersRCV000476062RCV001018130RCV001312218RCV001788226RCV001755706
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) SNV
Germline		 Chr7:116759444 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Osteofibrous dysplasia
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA4448450 rs_771333219

10 SubmittersRCV000572470RCV001293447RCV001292908RCV001566122RCV003470498RCV003492062
NM_000245.4(MET):c.143C>G (p.Ala48Gly) SNV
Germline		 Chr7:116699227 Conflicting classifications of pathogenicity Renal cell carcinoma
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
Autosomal recessive nonsyndromic hearing loss 97		 Criteria Provided
Conflicting Classifications
 CA4447947 rs_80256822

4 SubmittersRCV000458343RCV000765914RCV002393162RCV003463962
NM_000245.4(MET):c.142G>A (p.Ala48Thr) SNV
Germline		 Chr7:116699226 Conflicting classifications of pathogenicity Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97		 Criteria Provided
Conflicting Classifications
 CA4447946 rs_374050750

5 SubmittersRCV000532694RCV000569043RCV001547448RCV000764682RCV003470697
NM_000245.4(MET):c.2684C>T (p.Thr895Met) SNV
Germline		 Chr7:116769745 Conflicting classifications of pathogenicity Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
MET-related disorder		 Criteria Provided
Conflicting Classifications
 CA4448549 rs_199502137

6 SubmittersRCV000541456RCV001016448RCV001591188RCV002476079RCV003444568RCV003392361
NM_000245.4(MET):c.1643C>T (p.Ser548Leu) SNV
Germline		 Chr7:116740967 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Osteofibrous dysplasia		 Criteria Provided
Conflicting Classifications
 CA4448215 rs_767715328

4 SubmittersRCV000567437RCV000821666RCV001293997
NM_000245.4(MET):c.818C>A (p.Thr273Asn) SNV
Germline		 Chr7:116699902 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4448034 rs_368144654

5 SubmittersRCV000564380RCV000628765RCV002483539RCV003465263RCV003237941
NM_000245.4(MET):c.1862C>T (p.Thr621Ile) SNV
Germline		 Chr7:116755515 Conflicting classifications of pathogenicity Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Osteofibrous dysplasia
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1		 Criteria Provided
Conflicting Classifications
 CA4448286 rs_375951814

5 SubmittersRCV000628759RCV001013433RCV001756034RCV002483765
NM_000245.4(MET):c.2375A>G (p.His792Arg) SNV
Germline		 Chr7:116763060 Conflicting classifications of pathogenicity Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia		 Criteria Provided
Conflicting Classifications
 CA164897661 rs_980467681

3 SubmittersRCV000628747RCV001015499RCV002477372
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr) SNV
Germline		 Chr7:116795985 Conflicting classifications of pathogenicity Renal cell carcinoma
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Condition: not provided
Hereditary cancer-predisposing syndrome
Autosomal recessive nonsyndromic hearing loss 97
not specified		 Criteria Provided
Conflicting Classifications
 CA4448820 rs_768188910

6 SubmittersRCV000628769RCV000765921RCV001766335RCV001021839RCV003459489RCV002268220
NM_000245.4(MET):c.762A>C (p.Glu254Asp) SNV
Germline		 Chr7:116699846 Conflicting classifications of pathogenicity Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Condition: not provided
Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
MET-related disorder		 Criteria Provided
Conflicting Classifications
 rs_760278126

8 SubmittersRCV000765915RCV001797126RCV000688808RCV001026638RCV003465566RCV002291688RCV003953235
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys) SNV
Germline		 Chr7:116796073 Conflicting classifications of pathogenicity Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Osteofibrous dysplasia
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma		 Criteria Provided
Conflicting Classifications
 rs_370767911

4 SubmittersRCV001247842RCV002259098RCV002480850
NM_000245.4(MET):c.3842C>G (p.Ala1281Gly) SNV
Germline		 Chr7:116795698 Conflicting classifications of pathogenicity Osteofibrous dysplasia
Hereditary cancer-predisposing syndrome
Renal cell carcinoma		 Criteria Provided
Conflicting Classifications
 rs_750337451

3 SubmittersRCV001292882RCV002366112RCV001871741