Total 6 pathogenic variants reported for Osteosclerotic metaphyseal dysplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_024652.6(LRRK1):c.2785G>T (p.Glu929Ter) SNV
Germline		 Chr15:101029054 Pathogenic Osteosclerotic metaphyseal dysplasia Criteria Provided
Single Submitter
 CA393966307 rs_766875506

2 SubmittersRCV000625749
NM_024652.6(LRRK1):c.261G>A (p.Lys87=) SNV
Germline		 Chr15:100973967 Pathogenic Osteosclerotic metaphyseal dysplasia No Assertion Criteria Provided
 CA492406802 rs_2141653795

1 SubmittersRCV001794940
NM_024652.6(LRRK1):c.4480C>T (p.Arg1494Ter) SNV
Germline		 Chr15:101057003 Pathogenic Osteosclerotic metaphyseal dysplasia Criteria Provided
Single Submitter
 CA393954929 rs_1258583719

1 SubmittersRCV002227891