ClinVar for MedGen (Select 895359) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376277	NM_001958.5(EEF1A2):c.962G>A (p.Arg321Gln)	EEF1A2 (R321Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38	GUncertain significance
Select item 3254760	NM_001958.5(EEF1A2):c.1052G>A (p.Gly351Glu)	EEF1A2 (G351E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38	GUncertain significance
Select item 2500024	NM_001958.5(EEF1A2):c.1286T>G (p.Met429Arg)	EEF1A2 (M429R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38 +1 more	GUncertain significance
Select item 2431392	NM_001958.5(EEF1A2):c.958A>G (p.Ile320Val)	EEF1A2 (I320V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38 +1 more	GUncertain significance
Select item 1805716	NM_001958.5(EEF1A2):c.866T>C (p.Val289Ala)	EEF1A2 (V289A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38	GLikely benign
Select item 1709392	NM_001958.5(EEF1A2):c.1379A>G (p.Lys460Arg)	EEF1A2 (K460R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38	GUncertain significance
Select item 1679617	NM_001958.5(EEF1A2):c.653G>A (p.Arg218His)	EEF1A2 (R218H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38 +1 more	GUncertain significance
Select item 1661415	NM_001958.5(EEF1A2):c.332G>A (p.Cys111Tyr)	EEF1A2 (C111Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38 +2 more	GConflicting classifications of pathogenicity
Select item 1595477	NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr)	EEF1A2 (A223T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1333252	NM_001958.5(EEF1A2):c.47T>C (p.Val16Ala)	EEF1A2 (V16A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38	GLikely pathogenic
Select item 1015458	NM_001958.5(EEF1A2):c.1345G>A (p.Gly449Ser)	EEF1A2 (G449S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33 +2 more	GUncertain significance
Select item 941751	NM_001958.5(EEF1A2):c.1136T>C (p.Ile379Thr)	EEF1A2 (I379T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38 +1 more	GConflicting classifications of pathogenicity
Select item 830077	NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met)	EEF1A2 (T432M)	Single nucleotide variant (missense variant)	EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy +3 more	GPathogenic/Likely pathogenic
Select item 680013	NM_001958.5(EEF1A2):c.772+31C>A	EEF1A2	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 38 +2 more	GBenign
Select item 625937	NM_001958.5(EEF1A2):c.532A>T (p.Ile178Phe)	LOC132090595, EEF1A2 (I178F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38 +1 more	GUncertain significance
Select item 620070	NM_001958.5(EEF1A2):c.821C>T (p.Pro274Leu)	EEF1A2 (P274L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33 +1 more	GLikely pathogenic
Select item 449242	NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)	EEF1A2 (R266W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38 +5 more	GPathogenic/Likely pathogenic
Select item 422192	NM_001958.5(EEF1A2):c.71C>T (p.Thr24Met)	EEF1A2 (T24M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 386730	NM_001958.5(EEF1A2):c.1182G>T (p.Leu394=)	EEF1A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 386473	NM_001958.5(EEF1A2):c.183C>T (p.Asp61=)	EEF1A2	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 382763	NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33 +4 more	GBenign/Likely benign
Select item 379689	NM_001958.5(EEF1A2):c.594T>C (p.Gly198=)	EEF1A2	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 38 +4 more	GBenign
Select item 280924	NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)	EEF1A2 (E124K)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 279803	NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)	EEF1A2 (D91N)	Single nucleotide variant (missense variant)	EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy +3 more	GPathogenic
Select item 192252	NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)	EEF1A2 (E122K)	Single nucleotide variant (missense variant)	EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy +4 more	GPathogenic/Likely pathogenic
Select item 192251	NM_001958.5(EEF1A2):c.754G>C (p.Asp252His)	EEF1A2 (D252H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38 +1 more	GConflicting classifications of pathogenicity
Select item 100782	NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser)	EEF1A2 (G70S)	Single nucleotide variant (missense variant)	EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy +5 more	GPathogenic

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Items: 27