Total 5 pathogenic variants reported for Pyle metaphyseal dysplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_003014.3(SFRP4):c.694C>T SNV
Germline		 Chr7:37912216 Pathogenic Pyle metaphyseal dysplasia No Assertion Criteria Provided
 CA4222757 rs_755007671

1 SubmittersRCV000234991
NM_003014.4(SFRP4):c.373T>A (p.Cys125Ser) SNV
Germline		 Chr7:37916165 Likely pathogenic Pyle metaphyseal dysplasia Criteria Provided
Single Submitter
 rs_1344808304

1 SubmittersRCV001271113
NM_003014.4(SFRP4):c.161C>A (p.Ala54Asp) SNV
Germline		 Chr7:37916377 Likely pathogenic Pyle metaphyseal dysplasia Criteria Provided
Single Submitter
 rs_758308395

1 SubmittersRCV001271112