"Gene Discovery Core-Manton Center, Boston Children's Hospital"[submit - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712514	NM_001967.4(EIF4A2):c.5C>G (p.Ser2Cys)	EIF4A2 (S2C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1712515	NM_001967.4(EIF4A2):c.106GAT[1] (p.Asp37del)	EIF4A2 (D37del)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1712516	NM_001967.4(EIF4A2):c.131_132del (p.Leu44fs)	EIF4A2 (L44fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1712517	NM_001967.4(EIF4A2):c.[1161_1166del;186_187del]	EIF4A2 (R62fs)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1712518	NM_001967.4(EIF4A2):c.641C>A (p.Ser214Tyr)	EIF4A2 (S214Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1712519	NM_001967.4(EIF4A2):c.646A>G (p.Thr216Ala)	EIF4A2 (T216A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1712520	NM_001967.4(EIF4A2):c.647C>T (p.Thr216Ile)	EIF4A2 (T216I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1712521	NM_001967.4(EIF4A2):c.945_947del (p.Ile315del)	EIF4A2 (I315del)	Deletion (inframe_deletion)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1712522	NM_001967.4(EIF4A2):c.1032G>C (p.Leu344Phe)	EIF4A2 (L344F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic