Total 2 pathogenic variants reported for Craniodiaphyseal dysplasia, autosomal dominant 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_025237.3(SOST):c.61G>A (p.Val21Met) SNV
Germline		 Chr17:43758681 Likely pathogenic Craniodiaphyseal dysplasia, autosomal dominant
SOST-related disorder		 Criteria Provided
Single Submitter
 CA129828 rs_387907169

2 SubmittersRCV000024297RCV003398567
NM_025237.3(SOST):c.61G>T (p.Val21Leu) SNV
Germline		 Chr17:43758681 Pathogenic Craniodiaphyseal dysplasia, autosomal dominant No Assertion Criteria Provided
 rs_387907169

1 SubmittersRCV000024298