ClinVar for MedGen (Select 400703) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1255464	NM_023935.3(DDRGK1):c.511-10A>G	DDRGK1	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Shohat type +1 more	GBenign
Select item 487527	NM_023935.3(DDRGK1):c.408+1G>A	DDRGK1	Single nucleotide variant (splice donor variant)	Spondyloepimetaphyseal dysplasia, Shohat type	GPathogenic