Total 34 pathogenic variants reported for Metaphyseal chondrodysplasia, Jansen type 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000316.3(PTH1R):c.668A>G (p.His223Arg) SNV
Germline		 Chr3:46898691 Pathogenic Metaphyseal chondrodysplasia, Jansen type
Primary failure of tooth eruption
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123421 rs_121434597

5 SubmittersRCV000014749RCV002247338RCV003317036
NM_000316.3(PTH1R):c.1228A>C (p.Thr410Pro) SNV
Germline		 Chr3:46902542 Pathogenic Metaphyseal chondrodysplasia, Jansen type No Assertion Criteria Provided
 CA123422 rs_121434598

1 SubmittersRCV000014750
NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu) SNV
Germline		 Chr3:46897936 Pathogenic Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type
Eiken syndrome
Chondrodysplasia Blomstrand type
Primary failure of tooth eruption		 Criteria Provided
Single Submitter
 CA123425 rs_121434599

2 SubmittersRCV000014752RCV002482867
NM_000316.3(PTH1R):c.1373T>G (p.Ile458Arg) SNV
Germline		 Chr3:46902768 Pathogenic Metaphyseal chondrodysplasia, Jansen type
Condition: not provided		 Criteria Provided
Single Submitter
 CA123426 rs_121434600

2 SubmittersRCV000014754RCV006461163
NM_000316.3(PTH1R):c.1229C>G (p.Thr410Arg) SNV
Germline		 Chr3:46902543 Pathogenic Metaphyseal chondrodysplasia, Jansen type No Assertion Criteria Provided
 CA123427 rs_121434602

1 SubmittersRCV000014755
NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met) SNV
Germline		 Chr3:46902618 Conflicting classifications of pathogenicity Condition: not provided
Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type
Intellectual disability		 Criteria Provided
Conflicting Classifications
 CA216058 rs_387907460

5 SubmittersRCV000054585RCV001144124RCV001144123RCV005625255
NM_000316.3(PTH1R):c.876G>T (p.Leu292=) SNV
Germline		 Chr3:46899344 Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type		 Criteria Provided
Conflicting Classifications
 CA2359339 rs_200475872

1 SubmittersRCV000330133RCV000370539
NM_000316.3(PTH1R):c.128G>A (p.Arg43His) SNV
Germline		 Chr3:46893959 Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type
Condition: not provided
Primary failure of tooth eruption
Chondrodysplasia Blomstrand type
Eiken syndrome
Metaphyseal chondrodysplasia, Jansen type
PTH1R-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2359084 rs_141466964

7 SubmittersRCV000336084RCV000394373RCV000888059RCV002502324RCV003932398RCV005260036
NM_000316.3(PTH1R):c.313+4C>T SNV
Germline		 Chr3:46895873 Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2359137 rs_200207404

4 SubmittersRCV000272302RCV000327247RCV000595189
NM_000316.3(PTH1R):c.144C>T (p.Cys48=) SNV
Germline		 Chr3:46893975 Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10618761 rs_568635759

2 SubmittersRCV000301421RCV000356341RCV002057878
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) SNV
Germline		 Chr3:46895782 Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type
Condition: not provided
Connective tissue disorder
Inborn genetic diseases
Primary failure of tooth eruption
Chondrodysplasia Blomstrand type
Eiken syndrome
Metaphyseal chondrodysplasia, Jansen type		 Criteria Provided
Conflicting Classifications
 CA2359123 rs_148414587

9 SubmittersRCV000267353RCV000361854RCV001371142RCV002278546RCV002523261RCV005398471
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) SNV
Germline		 Chr3:46902569 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
Chondrodysplasia Blomstrand type
Condition: not provided
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2359473 rs_758673796

5 SubmittersRCV000318055RCV000377198RCV000714732RCV001001084RCV005462949
NM_000316.3(PTH1R):c.1644C>T (p.Leu548=) SNV
Germline		 Chr3:46903518 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
Chondrodysplasia Blomstrand type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2359595 rs_138646765

4 SubmittersRCV000297497RCV000357459RCV002057879
NM_000316.3(PTH1R):c.75+9C>T SNV
Germline		 Chr3:46883643 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
Chondrodysplasia Blomstrand type
Condition: not provided
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA2359058 rs_200710310

3 SubmittersRCV000294042RCV000348962RCV000906244RCV002278545
NM_000316.3(PTH1R):c.1152G>T (p.Val384=) SNV
Germline		 Chr3:46901801 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
Chondrodysplasia Blomstrand type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2359425 rs_763816214

2 SubmittersRCV000371856RCV000281643RCV000943525
NM_000316.3(PTH1R):c.1427G>A (p.Arg476His) SNV
Germline		 Chr3:46903301 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
Chondrodysplasia Blomstrand type
Condition: not provided
Chondrodysplasia Blomstrand type
Primary failure of tooth eruption
Metaphyseal chondrodysplasia, Jansen type
Eiken syndrome		 Criteria Provided
Conflicting Classifications
 CA2359562 rs_749111054

3 SubmittersRCV000309388RCV000350211RCV003765997RCV005027450
NM_000316.3(PTH1R):c.611T>A (p.Val204Glu) SNV
Germline		 Chr3:46898445 Likely pathogenic Primary failure of tooth eruption
Metaphyseal chondrodysplasia, Jansen type		 Criteria Provided
Single Submitter
 CA352495797 rs_769180471

2 SubmittersRCV000723315RCV003992376
NM_000316.3(PTH1R):c.1212-10G>A SNV
Germline		 Chr3:46902516 Conflicting classifications of pathogenicity Condition: not provided
Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type		 Criteria Provided
Conflicting Classifications
 CA2359463 rs_202090342

2 SubmittersRCV000908550RCV001150253RCV001150254
NM_000316.3(PTH1R):c.137C>A (p.Ala46Asp) SNV
Germline		 Chr3:46893968 Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type
Metaphyseal chondrodysplasia, Jansen type
Primary failure of tooth eruption
Chondrodysplasia Blomstrand type
Eiken syndrome		 Criteria Provided
Conflicting Classifications
 CA2359088 rs_199670451

2 SubmittersRCV001145804RCV001145805RCV005029724
NM_000316.3(PTH1R):c.449G>A (p.Arg150His) SNV
Germline		 Chr3:46898098 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type
Eiken syndrome
Primary failure of tooth eruption
Chondrodysplasia Blomstrand type		 Criteria Provided
Conflicting Classifications
 CA2359187 rs_73067029

2 SubmittersRCV001143997RCV001143998RCV005036412
NM_000316.3(PTH1R):c.1182C>T (p.Ala394=) SNV
Germline		 Chr3:46901831 Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2359432 rs_151330461

3 SubmittersRCV001150251RCV001150252RCV002070820
NM_000316.3(PTH1R):c.1695C>T (p.Asn565=) SNV
Germline		 Chr3:46903569 Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type
Condition: not provided
PTH1R-related disorder		 Criteria Provided
Conflicting Classifications
 CA2359606 rs_771579145

3 SubmittersRCV001148793RCV001148794RCV002032381RCV004746254
NM_000316.3(PTH1R):c.638+11C>A SNV
Germline		 Chr3:46898483 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
Chondrodysplasia Blomstrand type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1139658037 rs_1172297627

2 SubmittersRCV001145904RCV001145905RCV006557051
NM_000316.3(PTH1R):c.1373T>A (p.Ile458Lys) SNV
Unknown		 Chr3:46902768 Pathogenic Metaphyseal chondrodysplasia, Jansen type Criteria Provided
Single Submitter
 CA352503277 rs_121434600

1 SubmittersRCV001332362
NM_000316.3(PTH1R):c.1645G>A (p.Glu549Lys) SNV
Germline		 Chr3:46903519 Conflicting classifications of pathogenicity Condition: not provided
Primary failure of tooth eruption
Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type
Eiken syndrome
Chondrodysplasia Blomstrand type
Eiken syndrome		 Criteria Provided
Conflicting Classifications
 CA2359596 rs_200667470

3 SubmittersRCV001358958RCV002504587RCV004731135
NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys) SNV
Germline		 Chr3:46902788 Conflicting classifications of pathogenicity Condition: not provided
Connective tissue disorder
PTH1R-related disorder
Metaphyseal chondrodysplasia, Jansen type
Brachydactyly type E1		 Criteria Provided
Conflicting Classifications
 CA352503325 rs_1683106396

6 SubmittersRCV001901191RCV002276925RCV003407909RCV003447607RCV005213617
NM_000316.3(PTH1R):c.311G>A (p.Arg104Gln) SNV
Germline		 Chr3:46895867 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Eiken syndrome
Primary failure of tooth eruption
Metaphyseal chondrodysplasia, Jansen type
Chondrodysplasia Blomstrand type		 Criteria Provided
Conflicting Classifications
 CA2359136 rs_199875878

3 SubmittersRCV001928139RCV005465598RCV005038497
NM_000316.3(PTH1R):c.1144G>A (p.Val382Ile) SNV
Germline		 Chr3:46901793 Conflicting classifications of pathogenicity Condition: not provided
Primary failure of tooth eruption
Eiken syndrome
Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2359423 rs_148778122

3 SubmittersRCV003552368RCV005030075RCV006368275
NM_000316.3(PTH1R):c.1047C>T (p.Thr349=) SNV
Germline		 Chr3:46901083 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004764835RCV006479251
NM_000316.3(PTH1R):c.989-2A>G SNV
Germline		 Chr3:46901023 Likely pathogenic Metaphyseal chondrodysplasia, Jansen type Criteria Provided
Single Submitter

1 SubmittersRCV004821120
NM_000316.3(PTH1R):c.735C>G (p.Tyr245Ter) SNV
Germline		 Chr3:46898758 Likely pathogenic Primary failure of tooth eruption
Metaphyseal chondrodysplasia, Jansen type
Eiken syndrome
Chondrodysplasia Blomstrand type		 Criteria Provided
Single Submitter

1 SubmittersRCV005024638
NM_000316.3(PTH1R):c.892T>G (p.Trp298Gly) SNV
Germline		 Chr3:46899360 Likely pathogenic Primary failure of tooth eruption
Metaphyseal chondrodysplasia, Jansen type
Eiken syndrome
Chondrodysplasia Blomstrand type		 Criteria Provided
Single Submitter

1 SubmittersRCV005024640