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 Multiple Submitters No Conflicts	CA129828	rs_387907169	3 SubmittersRCV000024297 RCV003398567
NM_025237.3(SOST):c.61G>T (p.Val21Leu)	SNV Germline	Chr17:43758681	Pathogenic	Craniodiaphyseal dysplasia, autosomal dominant	No Assertion Criteria Provided	CA399703409	rs_387907169	1 SubmittersRCV000024298