ClinVar for OMIM (Select 313700) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 547178	NM_001448.3(GPC4):c.316del (p.Asp106fs)	GPC4 (D106fs)	Deletion (frameshift variant)	Keipert syndrome	GPathogenic
Select item 11571	NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser)	PAK3 (W446S +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 30	GPathogenic