C5830654[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691878	NM_001967.4(EIF4A2):c.517+1G>T	EIF4A2	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	GLikely pathogenic
Select item 3024524	NM_001967.4(EIF4A2):c.808dup (p.Thr270fs)	EIF4A2 (T270fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	GUncertain significance