ClinVar for PubMed (Select 12483303) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1699251	NM_006579.3(EBP):c.338+1G>C	EBP	Single nucleotide variant (splice donor variant)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 11492	NM_006579.3(EBP):c.440G>A (p.Arg147His)	EBP (R147H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic