Total 44 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.3281A>G (p.His1094Arg)
|
SNV Germline |
Chr7:116777410 |
Pathogenic/Likely pathogenic |
Papillary renal cell carcinoma type 1 Condition: not provided Renal cell carcinoma Hereditary cancer-predisposing syndrome MET-related disorder Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1 |
Criteria Provided Multiple Submitters No Conflicts |
CA221506 |
rs_121913243 |
8 SubmittersRCV000014901RCV000079490RCV001376564RCV002321481RCV003407332RCV005394153 |
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
SNV Germline |
Chr7:116771869 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma MET-related disorder Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1 |
Criteria Provided Conflicting Classifications |
CA160413 |
rs_34589476 |
26 SubmittersRCV000034528RCV000121339RCV000123119RCV000131706RCV001507128RCV003914903RCV005394192 |
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
SNV Germline/somatic |
Chr7:116771936 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Congenital diaphragmatic hernia Renal cell carcinoma Classic Hodgkin lymphoma MET-related disorder Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1 |
Criteria Provided Conflicting Classifications |
CA160417 |
rs_56391007 |
28 SubmittersRCV000034529RCV000121340RCV000123120RCV000163261RCV000203290RCV001507182RCV002227927RCV003891465RCV005394193 |
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
SNV Germline |
Chr7:116699588 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1 |
Criteria Provided Conflicting Classifications |
CA147098 |
rs_55985569 |
23 SubmittersRCV000034532RCV000079496RCV000119201RCV000129671RCV001507196RCV005394194 |
|
NM_000245.4(MET):c.967A>G (p.Ser323Gly)
|
SNV Germline |
Chr7:116700051 |
Conflicting classifications of pathogenicity |
Condition: not provided Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma not specified Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Arthrogryposis, distal, IIa 11 MET-related disorder |
Criteria Provided Conflicting Classifications |
CA215665 |
rs_201467281 |
13 SubmittersRCV000034535RCV000123136RCV000563453RCV001507142RCV000599960RCV005394196RCV003944878 |
|
NM_000245.4(MET):c.103A>T (p.Met35Leu)
|
SNV Germline |
Chr7:116699187 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Renal cell carcinoma Osteofibrous dysplasia Hereditary cancer Condition: not provided |
Criteria Provided Conflicting Classifications |
CA160424 |
rs_375353223 |
7 SubmittersRCV000121342RCV000567367RCV001391320RCV001292685RCV003492526RCV001548349 |
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
SNV Germline |
Chr7:116775070 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Renal cell carcinoma Papillary renal cell carcinoma type 1 not specified Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA189948 |
rs_370529693 |
11 SubmittersRCV000164064RCV001534185RCV001312227RCV005246658RCV002228447RCV005031633RCV003492548 |
|
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 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma Breast carcinoma Renal cell carcinoma MET-related disorder not specified Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Arthrogryposis, distal, IIa 11 Hepatocellular carcinoma Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA167281 |
rs_199701987 |
15 SubmittersRCV000130870RCV000199439RCV000484898RCV000515234RCV001262296RCV001328509RCV003415953RCV003320572RCV005394482RCV005235038 |
|
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 Condition: not provided Osteofibrous dysplasia Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 |
Criteria Provided Conflicting Classifications |
CA192400 |
rs_786202310 |
5 SubmittersRCV000165054RCV001218524RCV003468731RCV004777608RCV002498817 |
|
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 Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 Renal cell carcinoma Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 MET-related disorder Autosomal recessive nonsyndromic hearing loss 97 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA188720 |
rs_374733251 |
11 SubmittersRCV000163595RCV000167933RCV000765920RCV001293448RCV005031678RCV003398834RCV003467280RCV001812140 |
|
NM_000245.4(MET):c.2825C>T (p.Ser942Leu)
|
SNV Germline |
Chr7:116771592 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97 Renal cell carcinoma Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Condition: not provided not specified Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA195544 |
rs_375576430 |
7 SubmittersRCV000166311RCV003462209RCV001293426RCV005042337RCV001589036RCV004596092RCV005235073 |
|
NM_000245.4(MET):c.1132G>A (p.Val378Ile)
|
SNV Germline |
Chr7:116700216 |
Conflicting classifications of pathogenicity |
Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Renal cell carcinoma Condition: not provided Hereditary cancer-predisposing syndrome Hereditary papillary renal cell carcinoma Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia |
Criteria Provided Conflicting Classifications |
CA334728 |
rs_749738523 |
9 SubmittersRCV000168398RCV003468833RCV001293437RCV001562203RCV001009954RCV005600798RCV005396501 |
|
NM_000245.4(MET):c.632T>G (p.Leu211Trp)
|
SNV Germline |
Chr7:116699716 |
Conflicting classifications of pathogenicity |
Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided not specified Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma |
Criteria Provided Conflicting Classifications |
CA337368 |
rs_45483396 |
7 SubmittersRCV000197671RCV001025145RCV001450055RCV001706186RCV003320598RCV005396614 |
|
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 not specified Osteofibrous dysplasia Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 |
Criteria Provided Conflicting Classifications |
CA349639 |
rs_369758288 |
6 SubmittersRCV000205486RCV001775668RCV002433900RCV003493494RCV002503800 |
|
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln)
|
SNV Germline |
Chr7:116796096 |
Conflicting classifications of pathogenicity |
Renal cell carcinoma Condition: not provided not specified Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Arthrogryposis, distal, IIa 11 |
Criteria Provided Conflicting Classifications |
CA349710 |
rs_752694306 |
6 SubmittersRCV000205567RCV001775670RCV002267939RCV002256115RCV005396639 |
|
NM_000245.4(MET):c.1853C>T (p.Thr618Met)
|
SNV Germline |
Chr7:116755506 |
Conflicting classifications of pathogenicity |
Renal cell carcinoma Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA4448284 |
rs_753407699 |
5 SubmittersRCV000235673RCV000573538RCV005044500RCV003225052 |
|
NM_000245.4(MET):c.1336A>G (p.Ile446Val)
|
SNV Germline |
Chr7:116731803 |
Conflicting classifications of pathogenicity |
Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 |
Criteria Provided Conflicting Classifications |
CA4448135 |
rs_779022887 |
4 SubmittersRCV000239364RCV000574879RCV003114412RCV002487111 |
|
NM_000245.4(MET):c.1174C>A (p.Pro392Thr)
|
SNV Germline |
Chr7:116700258 |
Conflicting classifications of pathogenicity |
Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma Renal cell carcinoma Autosomal recessive nonsyndromic hearing loss 97 not specified |
Criteria Provided Conflicting Classifications |
CA10628009 |
rs_886061943 |
6 SubmittersRCV000335138RCV000570504RCV000765918RCV001312205RCV003470320RCV003320637 |
|
NM_000245.4(MET):c.2971C>T (p.Pro991Ser)
|
SNV Germline |
Chr7:116771932 |
Conflicting classifications of pathogenicity |
Papillary renal cell carcinoma type 1 Condition: not provided Osteofibrous dysplasia Hereditary cancer-predisposing syndrome Renal cell carcinoma |
Criteria Provided Conflicting Classifications |
CA4448619 |
rs_768678989 |
5 SubmittersRCV000476062RCV001755706RCV001788226RCV001018130RCV001312218 |
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
SNV Germline |
Chr7:116759444 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Renal cell carcinoma Condition: not provided Hereditary cancer Autosomal recessive nonsyndromic hearing loss 97 MET-related disorder |
Criteria Provided Conflicting Classifications |
CA4448450 |
rs_771333219 |
11 SubmittersRCV000572470RCV001292908RCV001293447RCV001566122RCV003492062RCV003470498RCV004745408 |
|
NM_000245.4(MET):c.143C>G (p.Ala48Gly)
|
SNV Germline |
Chr7:116699227 |
Conflicting classifications of pathogenicity |
Renal cell carcinoma Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97 |
Criteria Provided Conflicting Classifications |
CA4447947 |
rs_80256822 |
4 SubmittersRCV000458343RCV000765914RCV002393162RCV003463962 |
|
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr)
|
SNV Germline |
Chr7:116796101 |
Conflicting classifications of pathogenicity |
Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 |
Criteria Provided Conflicting Classifications |
CA4448838 |
rs_758486336 |
6 SubmittersRCV000472109RCV001022049RCV003223643RCV005034001RCV003463961 |
|
NM_000245.4(MET):c.142G>A (p.Ala48Thr)
|
SNV Germline |
Chr7:116699226 |
Conflicting classifications of pathogenicity |
Renal cell carcinoma Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Condition: not provided Autosomal recessive nonsyndromic hearing loss 97 MET-related disorder Papillary renal cell carcinoma type 1 |
Criteria Provided Conflicting Classifications |
CA4447946 |
rs_374050750 |
8 SubmittersRCV000532694RCV000569043RCV000764682RCV001547448RCV003470697RCV004745439RCV005248095 |
|
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 Osteofibrous dysplasia Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 MET-related disorder Papillary renal cell carcinoma type 1 |
Criteria Provided Conflicting Classifications |
CA4448549 |
rs_199502137 |
7 SubmittersRCV000541456RCV001016448RCV001591188RCV002476079RCV003392361RCV003444568 |
|
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 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA4448215 |
rs_767715328 |
5 SubmittersRCV000567437RCV000821666RCV001293997RCV004773023 |
|
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser)
|
SNV Germline |
Chr7:116796041 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma Osteofibrous dysplasia |
Criteria Provided Conflicting Classifications |
CA4448826 |
rs_765332671 |
4 SubmittersRCV000572542RCV000704365RCV001775899RCV002491137 |
|
NM_000245.4(MET):c.803C>T (p.Thr268Ile)
|
SNV Germline |
Chr7:116699887 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Renal cell carcinoma Osteofibrous dysplasia Hepatocellular carcinoma Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 |
Criteria Provided Conflicting Classifications |
CA4448031 |
rs_757427533 |
4 SubmittersRCV000572749RCV000628723RCV001293446RCV005034131 |
|
NM_000245.4(MET):c.818C>A (p.Thr273Asn)
|
SNV Germline |
Chr7:116699902 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Renal cell carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma Osteofibrous dysplasia Condition: not provided Autosomal recessive nonsyndromic hearing loss 97 |
Criteria Provided Conflicting Classifications |
CA4448034 |
rs_368144654 |
5 SubmittersRCV000564380RCV000628765RCV002483539RCV003237941RCV003465263 |
|
NM_000245.4(MET):c.306C>G (p.Ser102Arg)
|
SNV Germline |
Chr7:116699390 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Renal cell carcinoma Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma |
Criteria Provided Conflicting Classifications |
CA4447973 |
rs_749383450 |
3 SubmittersRCV001018441RCV002233914RCV005034203 |
|
NM_000245.4(MET):c.850A>G (p.Ile284Val)
|
SNV Germline |
Chr7:116699934 |
Conflicting classifications of pathogenicity |
Papillary renal cell carcinoma type 1 Renal cell carcinoma Condition: not provided Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma |
Criteria Provided Conflicting Classifications |
CA4448040 |
rs_776014448 |
5 SubmittersRCV000628763RCV001312226RCV005000399RCV002448925RCV005034202 |
|
NM_000245.4(MET):c.1862C>T (p.Thr621Ile)
|
SNV Germline |
Chr7:116755515 |
Conflicting classifications of pathogenicity |
Condition: not provided Renal cell carcinoma Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma not specified |
Criteria Provided Conflicting Classifications |
CA4448286 |
rs_375951814 |
7 SubmittersRCV001756034RCV000628759RCV001013433RCV002483765RCV004596305 |
|
NM_000245.4(MET):c.2375A>G (p.His792Arg)
|
SNV Germline |
Chr7:116763060 |
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 |
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 Condition: not provided Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Hereditary cancer-predisposing syndrome not specified Autosomal recessive nonsyndromic hearing loss 97 MET-related disorder |
Criteria Provided Conflicting Classifications |
CA4448820 |
rs_768188910 |
7 SubmittersRCV000628769RCV001766335RCV000765921RCV001021839RCV002268220RCV003459489RCV004745512 |
|
NM_000245.4(MET):c.762A>C (p.Glu254Asp)
|
SNV Germline |
Chr7:116699846 |
Conflicting classifications of pathogenicity |
Renal cell carcinoma Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Condition: not provided Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 MET-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA4448024 |
rs_760278126 |
10 SubmittersRCV000688808RCV000765915RCV001026638RCV001797126RCV003465566RCV002291688RCV003953235RCV005231270 |
|
NM_000245.4(MET):c.569A>G (p.Asp190Gly)
|
SNV Germline |
Chr7:116699653 |
Conflicting classifications of pathogenicity |
Papillary renal cell carcinoma type 1 Renal cell carcinoma Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Arthrogryposis, distal, IIa 11 Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA164888564 |
rs_1028165414 |
4 SubmittersRCV000709028RCV001339744RCV005034330RCV002343581 |
|
NM_000245.4(MET):c.1640G>A (p.Arg547Gln)
|
SNV Germline |
Chr7:116740964 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Renal cell carcinoma Hereditary cancer Condition: not provided Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Arthrogryposis, distal, IIa 11 Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 |
Criteria Provided Conflicting Classifications |
CA4448214 |
rs_761951444 |
8 SubmittersRCV001012533RCV001328501RCV003492139RCV003238200RCV005034331 |
|
NM_000245.4(MET):c.800A>G (p.Glu267Gly)
|
SNV Germline |
Chr7:116699884 |
Conflicting classifications of pathogenicity |
Renal cell carcinoma Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia |
Criteria Provided Conflicting Classifications |
CA4448030 |
rs_751564290 |
3 SubmittersRCV002234741RCV002422742RCV005036166 |
|
NM_000245.4(MET):c.1414C>T (p.Pro472Ser)
|
SNV Germline |
Chr7:116739971 |
Conflicting classifications of pathogenicity |
Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Papillary renal cell carcinoma type 1 Arthrogryposis, distal, IIa 11 Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia |
Criteria Provided Conflicting Classifications |
CA4448162 |
rs_376589619 |
4 SubmittersRCV000823670RCV002390710RCV004792541RCV005036229 |
|
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly)
|
SNV Germline |
Chr7:116796069 |
Conflicting classifications of pathogenicity |
Renal cell carcinoma Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Condition: not provided Papillary renal cell carcinoma type 1 Arthrogryposis, distal, IIa 11 Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia |
Criteria Provided Conflicting Classifications |
CA4448832 |
rs_773898036 |
5 SubmittersRCV000823281RCV002254714RCV002332721RCV002464330RCV005036228 |
|
NM_000245.4(MET):c.1450C>T (p.His484Tyr)
|
SNV Germline |
Chr7:116740007 |
Conflicting classifications of pathogenicity |
Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma |
Criteria Provided Conflicting Classifications |
CA4448163 |
rs_771272439 |
4 SubmittersRCV001052826RCV001358788RCV002393269RCV003462554RCV005036345 |
|
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys)
|
SNV Germline |
Chr7:116796073 |
Conflicting classifications of pathogenicity |
Renal cell carcinoma Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Osteofibrous dysplasia Condition: not provided |
Criteria Provided Conflicting Classifications |
CA369118437 |
rs_370767911 |
5 SubmittersRCV001247842RCV002259098RCV002480850RCV004720817 |
|
NM_000245.4(MET):c.3842C>G (p.Ala1281Gly)
|
SNV Germline |
Chr7:116795698 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Renal cell carcinoma Condition: not provided |
Criteria Provided Conflicting Classifications |
CA4448789 |
rs_750337451 |
4 SubmittersRCV002366112RCV001292882RCV001871741RCV005432655 |
|
NM_000245.4(MET):c.3403A>T (p.Ser1135Cys)
|
SNV Germline |
Chr7:116778838 |
Conflicting classifications of pathogenicity |
Renal cell carcinoma Hereditary cancer-predisposing syndrome Arthrogryposis, distal, IIa 11 Hepatocellular carcinoma Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 |
Criteria Provided Conflicting Classifications |
CA368990081 |
rs_1394199299 |
3 SubmittersRCV001321691RCV002341660RCV005040180 |
|
NM_000245.4(MET):c.617T>C (p.Phe206Ser)
|
SNV Germline |
Chr7:116699701 |
Conflicting classifications of pathogenicity |
Condition: not provided Renal cell carcinoma Hereditary cancer-predisposing syndrome Ovarian cancer Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma |
Criteria Provided Conflicting Classifications |
CA4448009 |
rs_746295363 |
6 SubmittersRCV001776321RCV001885127RCV002359250RCV003154195RCV005397014 |