ClinVar (all) for Orgtrack (Select 507292) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342150	NM_001967.4(EIF4A2):c.728C>T (p.Thr243Ile)	EIF4A2 (T243I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures +1 more	GPathogenic/Likely pathogenic
Select item 916130	NC_000007.13:g.73944168_74138459dup	GTF2IRD1, GTF2I	Duplication	Cognitive impairment	GPathogenic