"Ambry Genetics"[submitter] AND "LOC132090595"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 506414	NM_001958.5(EEF1A2):c.561C>T (p.Thr187=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 968948	NM_001958.5(EEF1A2):c.536A>G (p.Lys179Arg)	EEF1A2, LOC132090595 (K179R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 1746613	NM_001958.5(EEF1A2):c.528C>T (p.Ala176=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 389234	NM_001958.5(EEF1A2):c.526G>A (p.Ala176Thr)	EEF1A2, LOC132090595 (A176T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 707163	NM_001958.5(EEF1A2):c.513C>A (p.Val171=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33 +1 more	GLikely benign
Select item 1415886	NM_001958.5(EEF1A2):c.502G>A (p.Asp168Asn)	EEF1A2, LOC132090595 (D168N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33 +1 more	GConflicting classifications of pathogenicity
Select item 380779	NM_001958.5(EEF1A2):c.480G>A (p.Pro160=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33 +3 more	GBenign
Select item 389704	NM_001958.5(EEF1A2):c.477G>A (p.Glu159=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 588898	NM_001958.5(EEF1A2):c.424A>G (p.Thr142Ala)	EEF1A2, LOC132090595 (T142A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic