"EIF4A2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034652	NM_001967.4(EIF4A2):c.-8T>C	EIF4A2	Single nucleotide variant (5 prime UTR variant)	EIF4A2-related disorder	GLikely benign
Select item 2636384	NM_001967.4(EIF4A2):c.-7_13del (p.Met1fs)	EIF4A2 (M1fs)	Deletion (frameshift variant +1 more)	EIF4A2-related disorder	GUncertain significance
Select item 3057523	NM_001967.4(EIF4A2):c.24T>C (p.Tyr8=)	EIF4A2	Single nucleotide variant (synonymous variant)	EIF4A2-related disorder	GLikely benign
Select item 3031625	NM_001967.4(EIF4A2):c.209-3dup	EIF4A2	Duplication (intron variant)	EIF4A2-related disorder	GLikely benign
Select item 3028940	NM_001967.4(EIF4A2):c.514del (p.Leu172fs)	EIF4A2 (L172fs)	Deletion (frameshift variant)	EIF4A2-related disorder	GUncertain significance
Select item 3048221	NM_001967.4(EIF4A2):c.518-7C>T	EIF4A2	Single nucleotide variant (intron variant)	EIF4A2-related disorder	GBenign
Select item 3042243	NM_001967.4(EIF4A2):c.744A>G (p.Lys248=)	EIF4A2	Single nucleotide variant (synonymous variant)	EIF4A2-related disorder	GBenign
Select item 3052628	NM_001967.4(EIF4A2):c.771+5C>T	EIF4A2	Single nucleotide variant (intron variant)	EIF4A2-related disorder	GLikely benign
Select item 3042089	NM_001967.4(EIF4A2):c.772-3C>T	EIF4A2	Single nucleotide variant (intron variant)	EIF4A2-related disorder	GBenign

ClinVar