Full data view for gene EEF1A2

Information The variants shown are described using the NM_001958.3 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-130G>A r.(?) p.(=) Unknown - benign g.62130469C>T g.63499116C>T - - EEF1A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-72+8C>A r.(=) p.(=) Unknown - benign g.62130403G>T g.63499050G>T - - EEF1A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.39C>T r.(?) p.(Ile13=) Unknown - likely benign g.62129078G>A - EEF1A2(NM_001958.3):c.39C>T (p.I13=) - EEF1A2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.54C>G r.(?) p.(Ser18=) Unknown - likely benign g.62129063G>C - EEF1A2(NM_001958.3):c.54C>G (p.S18=) - EEF1A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.93C>T r.(?) p.(Cys31=) Unknown - likely benign g.62129024G>A - EEF1A2(NM_001958.3):c.93C>T (p.C31=) - EEF1A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.207C>T r.(?) p.(Arg69=) Unknown - benign g.62127326G>A g.63495973G>A - - EEF1A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.208G>A r.(?) p.(Gly70Ser) Unknown - likely pathogenic g.62127325C>T g.63495972C>T NM_001958.2:c.208G>A (Gly70Ser) - EEF1A2_000013 candidate variant PubMed: de Ligt 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 23033978-Trio91 PubMed: de Ligt 2012 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.208G>A r.(?) p.(Gly70Ser) Unknown ACMG pathogenic (dominant) g.62127325C>T g.63495972C>T - - EEF1A2_000013 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat34 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.208G>A r.(?) p.(Gly70Ser) Unknown - pathogenic g.62127325C>T - EEF1A2(NM_001958.3):c.208G>A (p.(Gly70Ser)), EEF1A2(NM_001958.5):c.208G>A (p.G70S) - EEF1A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.208G>A r.(?) p.(Gly70Ser) Unknown - pathogenic (dominant) g.62127325C>T - G208A - EEF1A2_000013 - PubMed: Veeramah 2013 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES EE PatB PubMed: Veeramah 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.208G>A r.(?) p.(Gly70Ser) Unknown - pathogenic g.62127325C>T - EEF1A2(NM_001958.3):c.208G>A (p.(Gly70Ser)), EEF1A2(NM_001958.5):c.208G>A (p.G70S) - EEF1A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.208G>A r.(?) p.(Gly70Ser) Unknown - pathogenic g.62127325C>T - EEF1A2(NM_001958.3):c.208G>A (p.(Gly70Ser)), EEF1A2(NM_001958.5):c.208G>A (p.G70S) - EEF1A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271G>A r.(?) p.(Asp91Asn) Unknown - pathogenic g.62127262C>T - EEF1A2(NM_001958.5):c.271G>A (p.D91N) - EEF1A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.271G>A r.(?) p.(Asp91Asn) Unknown - likely pathogenic g.62127262C>T - EEF1A2(NM_001958.5):c.271G>A (p.D91N) - EEF1A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.286C>T r.(?) p.(Arg96Cys) Unknown ACMG likely pathogenic g.62127247G>A g.63495894G>A - - EEF1A2_000044 - - ClinVar-2664000 rs865888375 Germline - - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+?/. - c.292T>C r.(?) p.(Phe98Leu) Unknown - pathogenic g.62127241A>G g.63495888A>G - - EEF1A2_000014 - - - - De novo yes - - - - DNA SEQ-NG-I Peripheral blood - DEE33 XYHF4P1 - - M no China - 03y - - - 1 Yin Xiaomeng
-?/. - c.324+340del r.(=) p.(=) Unknown - likely benign g.62126870del - EEF1A2(NM_001958.5):c.324+340del - EEF1A2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.325-8C>T r.(=) p.(=) Unknown - likely benign g.62126462G>A g.63495109G>A EEF1A2(NM_001958.3):c.325-8C>T - EEF1A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.358G>A r.(?) p.(Val120Met) Unknown - VUS g.62126421C>T g.63495068C>T - - EEF1A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.362G>A r.(?) p.(Gly121Asp) Unknown - VUS g.62126417C>T - - - EEF1A2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.364G>A r.(?) p.(Glu122Lys) Unknown - pathogenic g.62126415C>T - EEF1A2(NM_001958.5):c.364G>A (p.E122K) - EEF1A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.364G>A r.(?) p.(Glu122Lys) Unknown - pathogenic g.62126415C>T - EEF1A2(NM_001958.5):c.364G>A (p.E122K) - EEF1A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.370G>A r.(?) p.(Glu124Lys) Unknown - VUS g.62126409C>T g.63495056C>T - - EEF1A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.370G>A r.(?) p.(Glu124Lys) Unknown - likely pathogenic (dominant) g.62126409C>T g.63495056C>T - - EEF1A2_000009 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED0047.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
-/. - c.480G>A r.(?) p.(Pro160=) Unknown - benign g.62126299C>T g.63494946C>T EEF1A2(NM_001958.5):c.480G>A (p.P160=) - EEF1A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.480G>A r.(?) p.(Pro160=) Unknown - benign g.62126299C>T g.63494946C>T EEF1A2(NM_001958.5):c.480G>A (p.P160=) - EEF1A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.487A>G r.(?) p.(Ser163Gly) Unknown - likely benign g.62126292T>C - EEF1A2(NM_001958.5):c.487A>G (p.(Ser163Gly)) - EEF1A2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496C>T r.(?) p.(Arg166Cys) Unknown - VUS g.62126283G>A g.63494930G>A - - EEF1A2_000018 mother and brother wild type, father unavailable PubMed: Minardi 2020 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - EE - PubMed: Minardi 2020 - M - Italy - - - - - 1 Francesca Bisulli
?/. - c.496C>T r.(?) p.(Arg166Cys) Unknown - VUS g.62126283G>A g.63494930G>A - - EEF1A2_000018 mother and brother wt PubMed: Minardi 2020 - - Germline - - - - - DNA SEQ-NG-I - - EIEE - PubMed: Minardi 2020 - M - Italy - - - - - 1 Francesca Bisulli
+?/. - c.497G>A r.(?) p.(Arg166His) Unknown - likely pathogenic g.62126282C>T - - - EEF1A2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.594T>C r.(?) p.(Gly198=) Unknown - benign g.62126185A>G g.63494832A>G EEF1A2(NM_001958.5):c.594T>C (p.G198=) - EEF1A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.594T>C r.(?) p.(Gly198=) Unknown - benign g.62126185A>G g.63494832A>G EEF1A2(NM_001958.5):c.594T>C (p.G198=) - EEF1A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.714C>G r.(?) p.(Pro238=) Unknown - likely benign g.62124548G>C g.63493195G>C EEF1A2(NM_001958.3):c.714C>G (p.P238=) - EEF1A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716C>T r.(?) p.(Thr239Met) Unknown - VUS g.62124546G>A - EEF1A2(NM_001958.5):c.716C>T (p.T239M) - EEF1A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.772G>A r.(?) p.(Gly258Ser) Unknown - VUS g.62124490C>T g.63493137C>T - - EEF1A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.772+321_772+322insCTCC r.(=) p.(=) Unknown - VUS g.62124171_62124172insGGGA - EEF1A2(NM_001958.5):c.772+321_772+322insCTCC - EEF1A2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.796C>T r.(?) p.(Arg266Trp) Unknown ACMG pathogenic (dominant) g.62122065G>A g.63490712G>A - - EEF1A2_000023 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat35 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.807C>T r.(?) p.(Thr269=) Unknown - likely benign g.62122054G>A - EEF1A2(NM_001958.3):c.807C>T (p.T269=) - EEF1A2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.888C>A r.(?) p.(His296Gln) Unknown - likely pathogenic g.62121973G>T g.63490620G>T - - EEF1A2_000022 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
?/. - c.889G>A r.(?) p.(Glu297Lys) Unknown - VUS g.62121972C>T g.63490619C>T EEF1A2(NM_001958.3):c.889G>A (p.E297K) - EEF1A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.942C>A r.(?) p.(Asn314Lys) Unknown - likely pathogenic g.62121919G>T - - - EEF1A2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1029+12C>T r.(=) p.(=) Unknown - benign g.62121820G>A g.63490467G>A - - EEF1A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1045C>T r.(?) p.(His349Tyr) Unknown - VUS g.62120490G>A - - - EEF1A2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1063G>T r.(?) p.(Ala355Ser) Unknown - VUS g.62120472C>A - EEF1A2(NM_001958.3):c.1063G>T (p.(Ala355Ser)) - EEF1A2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1068C>T r.(?) p.(Gly356=) Unknown - likely benign g.62120467G>A g.63489114G>A EEF1A2(NM_001958.3):c.1068C>T (p.G356=) - EEF1A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1084G>C r.(?) p.(Asp362His) Unknown - VUS g.62120451C>G g.63489098C>G - - EEF1A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1263C>T r.(?) p.(Leu421=) Unknown - benign g.62120272G>A g.63488919G>A EEF1A2(NM_001958.3):c.1263C>T (p.L421=) - EEF1A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1264+7C>T r.(=) p.(=) Unknown - likely benign g.62120264G>A - EEF1A2(NM_001958.5):c.1264+7C>T - EEF1A2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1266C>A r.(?) p.(Gly422=) Unknown - likely benign g.62119777G>T g.63488424G>T EEF1A2(NM_001958.3):c.1266C>A (p.G422=), EEF1A2(NM_001958.5):c.1266C>A (p.G422=) - EEF1A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1266C>A r.(?) p.(Gly422=) Unknown - benign g.62119777G>T g.63488424G>T EEF1A2(NM_001958.3):c.1266C>A (p.G422=), EEF1A2(NM_001958.5):c.1266C>A (p.G422=) - EEF1A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1267C>G r.(?) p.(Arg423Gly) Unknown - VUS g.62119776G>C - - - EEF1A2_000046 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1267C>T r.(?) p.(Arg423Cys) Unknown ACMG pathogenic (dominant) g.62119776G>A g.63488423G>A - - EEF1A2_000032 ACMG PS1, PS2, PM2, PP3 PubMed: Ostrander 2018 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - WGS EIEE Pat6 PubMed: Ostrander 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+?/. - c.1267C>T r.(?) p.(Arg423Cys) Unknown - likely pathogenic g.62119776G>A g.63488423G>A - - EEF1A2_000032 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
-/. - c.1296G>A r.(?) p.(Thr432=) Unknown - benign g.62119747C>T g.63488394C>T - - EEF1A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1304T>C r.(?) p.(Val435Ala) Unknown - VUS g.62119739A>G - - - EEF1A2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4714G>A r.(=) p.(=) Unknown - likely benign g.62114937C>T - EEF1A2(NM_001958.5):c.*4714G>A - EEF1A2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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