Related gene-specific medical variations for Gene (Select 1917) - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248314	NC_000020.10:g.(?_62127189)_(62129116_?)dup	EEF1A2	Duplication	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 2992223	NM_001958.5(EEF1A2):c.532A>G (p.Ile178Val)	EEF1A2, LOC132090595 (I178V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 2991934	NM_001958.5(EEF1A2):c.468C>T (p.Asp156=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2918442	NM_001958.5(EEF1A2):c.522C>T (p.Val174=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2911666	NM_001958.5(EEF1A2):c.447C>A (p.Ile149=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2837636	NM_001958.5(EEF1A2):c.448G>A (p.Val150Met)	EEF1A2, LOC132090595 (V150M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 2780449	NM_001958.5(EEF1A2):c.496C>T (p.Arg166Cys)	EEF1A2, LOC132090595 (R166C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 2726782	NM_001958.5(EEF1A2):c.426G>T (p.Thr142=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2724413	NM_001958.5(EEF1A2):c.562G>A (p.Val188Met)	EEF1A2, LOC132090595 (V188M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 2723304	NM_001958.5(EEF1A2):c.401G>A (p.Arg134Gln)	EEF1A2, LOC132090595 (R134Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 2709538	NM_001958.5(EEF1A2):c.475G>T (p.Glu159Ter)	EEF1A2, LOC132090595 (E159*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 2663394	NM_001958.5(EEF1A2):c.431G>C (p.Gly144Ala)	EEF1A2, LOC132090595 (G144A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585500	NM_001958.5(EEF1A2):c.442C>A (p.Leu148Ile)	EEF1A2, LOC132090595 (L148I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 2571145	NM_001958.5(EEF1A2):c.400C>A (p.Arg134=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
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 2441176	NM_001958.5(EEF1A2):c.802G>A (p.Glu268Lys)	EEF1A2 (E268K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2429848	NM_001958.5(EEF1A2):c.335C>T (p.Ala112Val)	EEF1A2 (A112V)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2155958	NM_001958.5(EEF1A2):c.525C>T (p.Ser175=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2131434	NM_001958.5(EEF1A2):c.497G>A (p.Arg166His)	EEF1A2, LOC132090595 (R166H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 2073532	NM_001958.5(EEF1A2):c.444C>T (p.Leu148=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33 +1 more	GLikely benign
Select item 2038645	NM_001958.5(EEF1A2):c.511G>A (p.Val171Ile)	EEF1A2, LOC132090595 (V171I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 2001892	NM_001958.5(EEF1A2):c.524_525delinsAG (p.Ser175Lys)	EEF1A2, LOC132090595 (S175K)	Indel (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 1999658	NM_001958.5(EEF1A2):c.515A>G (p.Lys172Arg)	EEF1A2, LOC132090595 (K172R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 1940305	NM_001958.5(EEF1A2):c.555G>A (p.Pro185=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1803024	NM_001958.5(EEF1A2):c.43C>A (p.His15Asn)	EEF1A2 (H15N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GLikely pathogenic
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 1711936	NM_001958.5(EEF1A2):c.489C>G (p.Ser163Arg)	EEF1A2, LOC132090595 (S163R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33 +1 more	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 1657118	NM_001958.5(EEF1A2):c.510C>T (p.Ile170=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1593779	NM_001958.5(EEF1A2):c.549C>T (p.Tyr183=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1510997	NM_001958.5(EEF1A2):c.453C>T (p.Gly151=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 1415886	NM_001958.5(EEF1A2):c.502G>A (p.Asp168Asn)	EEF1A2, LOC132090595 (D168N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1363421	NM_001958.5(EEF1A2):c.403G>C (p.Glu135Gln)	EEF1A2, LOC132090595 (E135Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 1285456	NM_001958.5(EEF1A2):c.490G>A (p.Glu164Lys)	EEF1A2, LOC132090595 (E164K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 1202499	NM_001958.5(EEF1A2):c.524G>A (p.Ser175Asn)	EEF1A2, LOC132090595 (S175N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1161690	NM_001958.5(EEF1A2):c.504C>T (p.Asp168=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1158877	NM_001958.5(EEF1A2):c.426G>A (p.Thr142=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1145129	NM_001958.5(EEF1A2):c.501C>T (p.Tyr167=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1131311	NM_001958.5(EEF1A2):c.513C>T (p.Val171=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1093828	NM_001958.5(EEF1A2):c.459C>T (p.Asn153=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1022181	NM_001958.5(EEF1A2):c.543C>G (p.Ile181Met)	EEF1A2, LOC132090595 (I181M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1019022	NM_001958.5(EEF1A2):c.489C>T (p.Ser163=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 999458	NC_000020.10:g.(?_62119631)_62159505del	EEF1A2	Deletion	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 987402	NM_001958.5(EEF1A2):c.888C>A (p.His296Gln)	EEF1A2 (H296Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 982593	NM_001958.5(EEF1A2):c.465G>A (p.Met155Ile)	EEF1A2, LOC132090595 (M155I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 975543	NM_001958.5(EEF1A2):c.1138G>C (p.Asp380His)	EEF1A2 (D380H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GLikely pathogenic
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 967313	NM_001958.5(EEF1A2):c.505G>A (p.Glu169Lys)	EEF1A2, LOC132090595 (E169K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33 +1 more	GConflicting classifications of pathogenicity
Select item 958832	NM_001958.5(EEF1A2):c.398C>T (p.Thr133Met)	EEF1A2, LOC132090595 (T133M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 956154	NM_001958.5(EEF1A2):c.400C>T (p.Arg134Trp)	EEF1A2, LOC132090595 (R134W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 952533	NM_001958.5(EEF1A2):c.506A>G (p.Glu169Gly)	EEF1A2, LOC132090595 (E169G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 939782	NM_001958.5(EEF1A2):c.452G>A (p.Gly151Asp)	EEF1A2, LOC132090595 (G151D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 848460	NM_001958.5(EEF1A2):c.487A>G (p.Ser163Gly)	EEF1A2, LOC132090595 (S163G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 809273	NM_001958.5(EEF1A2):c.425C>T (p.Thr142Met)	EEF1A2, LOC132090595 (T142M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 764421	NM_001958.5(EEF1A2):c.399G>A (p.Thr133=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 754600	NM_001958.5(EEF1A2):c.540G>A (p.Lys180=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 707163	NM_001958.5(EEF1A2):c.513C>A (p.Val171=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 680009	NM_001958.5(EEF1A2):c.144+238A>G	EEF1A2, LOC132090596	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668277	NM_001958.5(EEF1A2):c.471C>G (p.Ser157=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33 +1 more	GLikely benign
Select item 657517	NM_001958.5(EEF1A2):c.480_481delinsAA (p.Ala161Thr)	EEF1A2, LOC132090595 (A161T)	Indel (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
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 588898	NM_001958.5(EEF1A2):c.424A>G (p.Thr142Ala)	EEF1A2, LOC132090595 (T142A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 542655	NM_001958.5(EEF1A2):c.412C>T (p.Leu138=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 512460	NM_001958.5(EEF1A2):c.543C>T (p.Ile181=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 506414	NM_001958.5(EEF1A2):c.561C>T (p.Thr187=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 476035	NM_001958.5(EEF1A2):c.447C>T (p.Ile149=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33 +1 more	GLikely benign
Select item 451415	NM_001958.5(EEF1A2):c.530A>C (p.Tyr177Ser)	EEF1A2, LOC132090595 (Y177S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 389234	NM_001958.5(EEF1A2):c.526G>A (p.Ala176Thr)	EEF1A2, LOC132090595 (A176T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 380779	NM_001958.5(EEF1A2):c.480G>A (p.Pro160=)	EEF1A2, LOC132090595	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign

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Items: 73