ClinVar for MedGen (Select 336581) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 101503	NM_014740.4(EIF4A3):c.809A>G (p.Asp270Gly)	EIF4A3 (D270G)	Single nucleotide variant (missense variant)	Richieri Costa-Pereira syndrome	GPathogenic
Select item 101502	NM_014740.4(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[10]	EIF4A3	Indel	Richieri Costa-Pereira syndrome	GPathogenic
Select item 101501	NG_046916.1:g.5125_5142delinsTCGGCAGCGGCACAGCGAGG[12]	EIF4A3	Microsatellite	Richieri Costa-Pereira syndrome	GPathogenic
Select item 101500	NM_014740.4(EIF4A3):c.-98_-81delinsTCGGCAGCGGCACAGCGAGG[13]	EIF4A3	Microsatellite	Richieri Costa-Pereira syndrome	GPathogenic

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