"Revvity Omics, Revvity"[submitter] AND "EEF1A2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 510868	NM_001958.5(EEF1A2):c.1029+3G>T	EEF1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 33 +2 more	GConflicting classifications of pathogenicity
Select item 2441175	NM_001958.5(EEF1A2):c.1005G>T (p.Gln335His)	EEF1A2 (Q335H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441176	NM_001958.5(EEF1A2):c.802G>A (p.Glu268Lys)	EEF1A2 (E268K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449242	NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)	EEF1A2 (R266W)	Single nucleotide variant (missense variant)	EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy +5 more	GPathogenic/Likely pathogenic
Select item 2441177	NM_001958.5(EEF1A2):c.733C>T (p.Pro245Ser)	EEF1A2 (P245S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441179	NM_001958.5(EEF1A2):c.358G>A (p.Val120Met)	EEF1A2 (V120M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441178	NM_001958.5(EEF1A2):c.270C>T (p.Ile90=)	EEF1A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

ClinVar