ClinVar for MedGen (Select 382678) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31593	NM_025237.3(SOST):c.61G>T (p.Val21Leu)	SOST (V21L)	Single nucleotide variant (missense variant)	Craniodiaphyseal dysplasia, autosomal dominant	GPathogenic
Select item 31592	NM_025237.3(SOST):c.61G>A (p.Val21Met)	SOST (V21M)	Single nucleotide variant (missense variant)	SOST-related disorder	GLikely pathogenic