Total 27 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
Condition: not provided
Primary failure of tooth eruption		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123421 rs_121434597

4 SubmittersRCV000014749RCV003317036RCV002247338
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
Primary failure of tooth eruption
Metaphyseal chondrodysplasia, Jansen type
Eiken syndrome
Chondrodysplasia Blomstrand type		 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 No Assertion Criteria Provided
 CA123426 rs_121434600

1 SubmittersRCV000014754
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
Metaphyseal chondrodysplasia, Jansen type
Chondrodysplasia Blomstrand type		 Criteria Provided
Conflicting Classifications
 CA216058 rs_387907460

4 SubmittersRCV000054585RCV001144123RCV001144124
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.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		 Criteria Provided
Conflicting Classifications
 CA2359123 rs_148414587

8 SubmittersRCV000267353RCV000361854RCV001371142RCV002278546RCV002523261
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		 Criteria Provided
Conflicting Classifications
 CA2359473 rs_758673796

4 SubmittersRCV000318055RCV000377198RCV000714732RCV001001084
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

3 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 Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2359425 rs_763816214

2 SubmittersRCV000281643RCV000371856RCV000943525
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		 Criteria Provided
Conflicting Classifications
 CA2359562 rs_749111054

2 SubmittersRCV000309388RCV000350211RCV003765997
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
 rs_769180471

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

2 SubmittersRCV000908550RCV001150254RCV001150253
NM_000316.3(PTH1R):c.137C>A (p.Ala46Asp) SNV
Germline		 Chr3:46893968 Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type		 Criteria Provided
Conflicting Classifications
 rs_199670451

1 SubmittersRCV001145804RCV001145805
NM_000316.3(PTH1R):c.449G>A (p.Arg150His) SNV
Germline		 Chr3:46898098 Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type		 Criteria Provided
Conflicting Classifications
 rs_73067029

1 SubmittersRCV001143998RCV001143997
NM_000316.3(PTH1R):c.1182C>T (p.Ala394=) SNV
Germline		 Chr3:46901831 Conflicting classifications of pathogenicity Condition: not provided
Chondrodysplasia Blomstrand type
Metaphyseal chondrodysplasia, Jansen type		 Criteria Provided
Conflicting Classifications
 rs_151330461

3 SubmittersRCV002070820RCV001150251RCV001150252
NM_000316.3(PTH1R):c.1695C>T (p.Asn565=) SNV
Germline		 Chr3:46903569 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
Chondrodysplasia Blomstrand type
PTH1R-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_771579145

3 SubmittersRCV001148794RCV001148793RCV004746254RCV002032381
NM_000316.3(PTH1R):c.1373T>A (p.Ile458Lys) SNV
Unknown		 Chr3:46902768 Pathogenic Metaphyseal chondrodysplasia, Jansen type Criteria Provided
Single Submitter
 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
 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
Metaphyseal chondrodysplasia, Jansen type
PTH1R-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1683106396

5 SubmittersRCV001901191RCV002276925RCV003447607RCV003407909
NM_000316.3(PTH1R):c.1047C>T (p.Thr349=) SNV
Germline		 Chr3:46901083 Likely pathogenic Metaphyseal chondrodysplasia, Jansen type Criteria Provided
Single Submitter

1 SubmittersRCV004764835
NM_000316.3(PTH1R):c.989-2A>G SNV
Germline		 Chr3:46901023 Likely pathogenic Metaphyseal chondrodysplasia, Jansen type Criteria Provided
Single Submitter

1 SubmittersRCV004821120