ClinVar (all) for Orgtrack (Select 508228) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1326263	Single allele	OPHN1	Duplication	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 1251919	NC_000023.11:g.68119248_68212212dup	OPHN1	Duplication	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic