All variants in the EIF2AK3 gene

Information The variants shown are described using the NM_004836.5 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.58_63del r.(?) p.(Leu20_Leu21del) - VUS g.88926749_88926754del g.88627231_88627236del EIF2AK3(NM_004836.5):c.58_63del (p.(Leu20_Leu21del)), EIF2AK3(NM_004836.7):c.58_63delCTGCTG (p.L20_L21del) - EIF2AK3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.58_63del r.(?) p.(Leu20_Leu21del) - benign g.88926749_88926754del g.88627231_88627236del EIF2AK3(NM_004836.5):c.58_63del (p.(Leu20_Leu21del)), EIF2AK3(NM_004836.7):c.58_63delCTGCTG (p.L20_L21del) - EIF2AK3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.58_63dup r.(?) p.(Leu20_Leu21dup) - VUS g.88926749_88926754dup g.88627231_88627236dup EIF2AK3(NM_004836.6):c.52_57dupCTGCTG (p.L20_L21dup), EIF2AK3(NM_004836.6):c.58_63dupCTGCTG (p.L20_L21dup) - EIF2AK3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.61_62del r.(?) p.(Leu21GlyfsTer55) - benign g.88926731_88926732del g.88627213_88627214del EIF2AK3(NM_004836.7):c.61_62delCT (p.L21Gfs*55) - EIF2AK3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.61_63del r.(?) p.(Leu21del) - benign g.88926752_88926754del g.88627234_88627236del EIF2AK3(NM_004836.5):c.61_63del (p.(Leu21del)), EIF2AK3(NM_004836.6):c.61_63delCTG (p.L21del), EIF2AK3(NM_004836.7):c.61_63delCTG (p.L21del) - EIF2AK3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.61_63del r.(?) p.(Leu21del) - VUS g.88926752_88926754del g.88627234_88627236del EIF2AK3(NM_004836.5):c.61_63del (p.(Leu21del)), EIF2AK3(NM_004836.6):c.61_63delCTG (p.L21del), EIF2AK3(NM_004836.7):c.61_63delCTG (p.L21del) - EIF2AK3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.61_63del r.(?) p.(Leu21del) - benign g.88926752_88926754del g.88627234_88627236del EIF2AK3(NM_004836.5):c.61_63del (p.(Leu21del)), EIF2AK3(NM_004836.6):c.61_63delCTG (p.L21del), EIF2AK3(NM_004836.7):c.61_63delCTG (p.L21del) - EIF2AK3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.61_63del r.(?) p.(Leu21del) - benign g.88926752_88926754del g.88627234_88627236del EIF2AK3(NM_004836.5):c.61_63del (p.(Leu21del)), EIF2AK3(NM_004836.6):c.61_63delCTG (p.L21del), EIF2AK3(NM_004836.7):c.61_63delCTG (p.L21del) - EIF2AK3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.68T>G r.(?) p.(Leu23Arg) - VUS g.88926725A>C g.88627207A>C EIF2AK3(NM_004836.6):c.68T>G (p.L23R) - EIF2AK3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.112G>A r.(?) p.(Ala38Thr) - VUS g.88926681C>T g.88627163C>T EIF2AK3(NM_004836.5):c.112G>A (p.(Ala38Thr)) - EIF2AK3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.149C>T r.(?) p.(Ala50Val) - likely benign g.88926644G>A g.88627126G>A EIF2AK3(NM_004836.6):c.149C>T (p.A50V) - EIF2AK3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.154G>A r.(?) p.(Ala52Thr) - likely benign g.88926639C>T g.88627121C>T EIF2AK3(NM_004836.6):c.154G>A (p.A52T) - EIF2AK3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.213T>C r.(?) p.(Thr71=) - likely benign g.88926580A>G g.88627062A>G EIF2AK3(NM_004836.6):c.213T>C (p.T71=) - EIF2AK3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.423C>A r.(?) p.(Ser141Arg) - VUS g.88913257G>T g.88613739G>T EIF2AK3(NM_004836.5):c.423C>A (p.(Ser141Arg)) - EIF2AK3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.439-170A>G r.(=) p.(=) - benign g.88895351T>C g.88595833T>C EIF2AK3(NM_004836.7):c.439-170A>G - EIF2AK3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.439-170A>G r.(=) p.(=) - likely benign g.88895351T>C - EIF2AK3(NM_004836.7):c.439-170A>G - EIF2AK3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.493G>A r.(?) p.(Asp165Asn) - VUS g.88895127C>T g.88595609C>T EIF2AK3(NM_004836.6):c.493G>A (p.D165N) - EIF2AK3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.497A>G r.(?) p.(Gln166Arg) - benign g.88895123T>C g.88595605T>C EIF2AK3(NM_004836.6):c.497A>G (p.Q166R), EIF2AK3(NM_004836.7):c.497A>G (p.Q166R) - EIF2AK3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.497A>G r.(?) p.(Gln166Arg) - benign g.88895123T>C g.88595605T>C EIF2AK3(NM_004836.6):c.497A>G (p.Q166R), EIF2AK3(NM_004836.7):c.497A>G (p.Q166R) - EIF2AK3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.497A>G r.(?) p.(Gln166Arg) - benign g.88895123T>C - EIF2AK3(NM_004836.6):c.497A>G (p.Q166R), EIF2AK3(NM_004836.7):c.497A>G (p.Q166R) - EIF2AK3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.530C>T r.(?) p.(Thr177Ile) - VUS g.88895090G>A g.88595572G>A EIF2AK3(NM_004836.6):c.530C>T (p.T177I) - EIF2AK3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.719G>A r.(?) p.(Arg240His) - VUS g.88892838C>T g.88593320C>T - - EIF2AK3_000043 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147458427 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. - c.744C>T r.(?) p.(Val248=) - likely benign g.88892813G>A g.88593295G>A EIF2AK3(NM_004836.6):c.744C>T (p.V248=) - EIF2AK3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.782T>C r.(?) p.(Val261Ala) - VUS g.88890556A>G g.88591038A>G EIF2AK3(NM_004836.6):c.782T>C (p.V261A) - EIF2AK3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.807T>C r.(?) p.(Ile269=) - likely benign g.88890531A>G g.88591013A>G EIF2AK3(NM_004836.6):c.807T>C (p.I269=) - EIF2AK3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.822G>A r.(?) p.(Thr274=) - likely benign g.88890516C>T g.88590998C>T EIF2AK3(NM_004836.7):c.822G>A (p.T274=) - EIF2AK3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.928A>T r.(?) p.(Ile310Leu) - VUS g.88890410T>A g.88590892T>A - - EIF2AK3_000042 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs191277311 Germline - 6/2794 individuals - 0 - Mohammed Faruq
-?/. - c.1002+5C>G r.spl? p.? - likely benign g.88890331G>C g.88590813G>C EIF2AK3(NM_004836.5):c.1002+5C>G (p.?) - EIF2AK3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1019C>T r.(?) p.(Ala340Val) - VUS g.88890107G>A g.88590589G>A EIF2AK3(NM_004836.6):c.1019C>T (p.A340V) - EIF2AK3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.1310C>A r.(?) p.(Ser437Tyr) - likely pathogenic g.88887619G>T g.88588101G>T - - EIF2AK3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1325C>G r.(?) p.(Pro442Arg) - likely benign g.88887604G>C g.88588086G>C EIF2AK3(NM_004836.5):c.1325C>G (p.(Pro442Arg)) - EIF2AK3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1337del r.(?) p.(Gly446AspfsTer80) - pathogenic g.88887593del g.88588075del EIF2AK3(NM_004836.7):c.1337delG (p.G446Dfs*80) - EIF2AK3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1504G>A r.(?) p.(Asp502Asn) - likely benign g.88885505C>T g.88585987C>T EIF2AK3(NM_004836.6):c.1504G>A (p.D502N) - EIF2AK3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1622_1623del r.(?) p.(Arg541GlnfsTer15) - pathogenic g.88885388_88885389del g.88585870_88585871del EIF2AK3(NM_004836.6):c.1622_1623delGC (p.R541Qfs*15) - EIF2AK3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1697A>T r.(?) p.(Asp566Val) - VUS g.88883014T>A g.88583496T>A EIF2AK3(NM_004836.6):c.1697A>T (p.D566V) - EIF2AK3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1763+6A>T r.(=) p.(=) - benign g.88882942T>A g.88583424T>A EIF2AK3(NM_004836.6):c.1763+6A>T, EIF2AK3(NM_004836.7):c.1763+6A>T - EIF2AK3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1763+6A>T r.(=) p.(=) - benign g.88882942T>A g.88583424T>A EIF2AK3(NM_004836.6):c.1763+6A>T, EIF2AK3(NM_004836.7):c.1763+6A>T - EIF2AK3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1763+6A>T r.(=) p.(=) - benign g.88882942T>A - EIF2AK3(NM_004836.6):c.1763+6A>T, EIF2AK3(NM_004836.7):c.1763+6A>T - EIF2AK3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1791A>G r.(?) p.(Gln597=) - benign g.88879131T>C g.88579613T>C EIF2AK3(NM_004836.6):c.1791A>G (p.Q597=), EIF2AK3(NM_004836.7):c.1791A>G (p.Q597=) - EIF2AK3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1791A>G r.(?) p.(Gln597=) - benign g.88879131T>C g.88579613T>C EIF2AK3(NM_004836.6):c.1791A>G (p.Q597=), EIF2AK3(NM_004836.7):c.1791A>G (p.Q597=) - EIF2AK3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1791A>G r.(?) p.(Gln597=) - benign g.88879131T>C - EIF2AK3(NM_004836.6):c.1791A>G (p.Q597=), EIF2AK3(NM_004836.7):c.1791A>G (p.Q597=) - EIF2AK3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1843G>T r.(?) p.(Asp615Tyr) - NA g.88879079C>A g.88579561C>A [1843G>T];[1844A>C] - EIF2AK3_000040 correct is two flanking variants on one allele (c.1843_1844inv) Journal: Wakeling 2020 - - Artefact - - - 0 - Johan den Dunnen
?/. - c.1843_1844inv r.(?) p.(Asp615Ser) - VUS g.88879078_88879079inv g.88579560_88579561inv [1843G>T];[1844A>C], 1843_1844delinsTC - EIF2AK3_000039 variant called as c.1843G>T (Asp615Tyr) and c.1844A>C (Asp615Ala) Journal: Wakeling 2020 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1844A>C r.(?) p.(Asp615Ala) - NA g.88879078T>G g.88579560T>G [1843G>T];[1844A>C] - EIF2AK3_000041 correct is two flanking variants on one allele (c.1843_1844inv) Journal: Wakeling 2020 - - Artefact - - - 0 - Johan den Dunnen
-?/. - c.1886+7G>T r.(=) p.(=) - likely benign g.88879029C>A g.88579511C>A EIF2AK3(NM_004836.5):c.1886+7G>T (p.(=)) - EIF2AK3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1947G>A r.(?) p.(Pro649=) - likely benign g.88876161C>T g.88576643C>T EIF2AK3(NM_004836.6):c.1947G>A (p.P649=) - EIF2AK3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2110G>T r.(?) p.(Ala704Ser) - benign g.88874891C>A g.88575373C>A EIF2AK3(NM_004836.6):c.2110G>T (p.A704S), EIF2AK3(NM_004836.7):c.2110G>T (p.A704S) - EIF2AK3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2110G>T r.(?) p.(Ala704Ser) - benign g.88874891C>A g.88575373C>A EIF2AK3(NM_004836.6):c.2110G>T (p.A704S), EIF2AK3(NM_004836.7):c.2110G>T (p.A704S) - EIF2AK3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2110G>T r.(?) p.(Ala704Ser) - benign g.88874891C>A - EIF2AK3(NM_004836.6):c.2110G>T (p.A704S), EIF2AK3(NM_004836.7):c.2110G>T (p.A704S) - EIF2AK3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2147C>T r.(?) p.(Pro716Leu) - likely benign g.88874854G>A - EIF2AK3(NM_004836.5):c.2147C>T (p.(Pro716Leu)) - EIF2AK3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2265G>C r.(?) p.(Val755=) - likely benign g.88874736C>G - EIF2AK3(NM_004836.6):c.2265G>C (p.V755=) - EIF2AK3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2532T>C r.(?) p.(Ser844=) - likely benign g.88874469A>G g.88574951A>G EIF2AK3(NM_004836.6):c.2532T>C (p.S844=) - EIF2AK3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2818-73T>A r.(=) p.(=) - likely benign g.88870632A>T - EIF2AK3(NM_004836.7):c.2818-73T>A - EIF2AK3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.2985+1dup r.spl? p.? - pathogenic g.88870392dup g.88570874dup EIF2AK3(NM_004836.6):c.2985+1dupG - EIF2AK3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.3150+1G>A r.spl? p.? - likely pathogenic (recessive) g.88858434C>T - - - EIF2AK3_000049 - - - - Germline - - - - - Maria Dora Jazmin Lacarrubba-Flores
?/. - c.3214A>G r.(?) p.(Ile1072Val) - VUS g.88857391T>C g.88557873T>C EIF2AK3(NM_004836.5):c.3214A>G (p.(Ile1072Val)) - EIF2AK3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3291A>G r.(?) p.(Ser1097=) - likely benign g.88857314T>C g.88557796T>C EIF2AK3(NM_004836.6):c.3291A>G (p.S1097=) - EIF2AK3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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