"Ambry Genetics"[submitter] AND "EIF2AK3"[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1395881	NM_004836.7(EIF2AK3):c.3277C>T (p.Arg1093Cys)	EIF2AK3, LOC101928371 (R942C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3274945	NM_004836.7(EIF2AK3):c.3037A>T (p.Ile1013Phe)	EIF2AK3, LOC101928371 (I1013F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087869	NM_004836.7(EIF2AK3):c.2948G>C (p.Gly983Ala)	EIF2AK3, LOC101928371 (G832A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466565	NM_004836.7(EIF2AK3):c.2746C>T (p.His916Tyr)	EIF2AK3, LOC101928371 (H765Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294349	NM_004836.7(EIF2AK3):c.2710T>G (p.Cys904Gly)	EIF2AK3, LOC101928371 (C753G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275533	NM_004836.7(EIF2AK3):c.2575A>G (p.Arg859Gly)	EIF2AK3, LOC101928371 (R859G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231519	NM_004836.7(EIF2AK3):c.2534G>C (p.Ser845Thr)	EIF2AK3, LOC101928371 (S694T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490666	NM_004836.7(EIF2AK3):c.2480T>G (p.Leu827Trp)	EIF2AK3, LOC101928371 (L827W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087868	NM_004836.7(EIF2AK3):c.2477G>C (p.Arg826Pro)	EIF2AK3, LOC101928371 (R675P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2986037	NM_004836.7(EIF2AK3):c.2416A>G (p.Ile806Val)	EIF2AK3, LOC101928371 (I655V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2228368	NM_004836.7(EIF2AK3):c.2328G>A (p.Met776Ile)	EIF2AK3, LOC101928371 (M625I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 998661	NM_004836.7(EIF2AK3):c.2315A>T (p.Glu772Val)	EIF2AK3, LOC101928371 (E621V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 2489052	NM_004836.7(EIF2AK3):c.2256T>A (p.Ser752Arg)	EIF2AK3, LOC101928371 (S752R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 337404	NM_004836.7(EIF2AK3):c.2237T>C (p.Met746Thr)	EIF2AK3, LOC101928371 (M746T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1463386	NM_004836.7(EIF2AK3):c.2159G>A (p.Arg720Lys)	EIF2AK3, LOC101928371 (R569K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia +2 more	GUncertain significance
Select item 1477843	NM_004836.7(EIF2AK3):c.2120A>G (p.Glu707Gly)	EIF2AK3, LOC101928371 (E707G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2487080	NM_004836.7(EIF2AK3):c.2111C>T (p.Ala704Val)	EIF2AK3, LOC101928371 (A553V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 337409	NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg)	EIF2AK3, LOC101928371 (S688R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 3087867	NM_004836.7(EIF2AK3):c.2050C>T (p.Leu684Phe)	EIF2AK3, LOC101928371 (L684F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087866	NM_004836.7(EIF2AK3):c.2010G>A (p.Met670Ile)	EIF2AK3 (M519I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1460796	NM_004836.7(EIF2AK3):c.1946C>T (p.Pro649Leu)	EIF2AK3 (P498L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1924560	NM_004836.7(EIF2AK3):c.1697A>G (p.Asp566Gly)	EIF2AK3 (D566G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3087865	NM_004836.7(EIF2AK3):c.1603G>A (p.Ala535Thr)	EIF2AK3 (A384T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1916696	NM_004836.7(EIF2AK3):c.1546G>C (p.Val516Leu)	EIF2AK3 (V516L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 897491	NM_004836.7(EIF2AK3):c.1504G>A (p.Asp502Asn)	EIF2AK3 (D351N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2491931	NM_004836.7(EIF2AK3):c.1475G>A (p.Arg492Gln)	EIF2AK3 (R341Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1362681	NM_004836.7(EIF2AK3):c.1411A>G (p.Ile471Val)	EIF2AK3 (I320V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2189515	NM_004836.7(EIF2AK3):c.1182G>C (p.Gln394His)	EIF2AK3 (Q243H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3087864	NM_004836.7(EIF2AK3):c.1177G>C (p.Gly393Arg)	EIF2AK3 (G242R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532536	NM_004836.7(EIF2AK3):c.1060A>C (p.Ser354Arg)	EIF2AK3 (S203R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324214	NM_004836.7(EIF2AK3):c.1032A>C (p.Leu344Phe)	EIF2AK3 (L193F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1925881	NM_004836.7(EIF2AK3):c.1022C>T (p.Ser341Phe)	EIF2AK3 (S190F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1906535	NM_004836.7(EIF2AK3):c.1015A>G (p.Ile339Val)	EIF2AK3 (I188V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1922316	NM_004836.7(EIF2AK3):c.962C>A (p.Ala321Glu)	EIF2AK3 (A170E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1931167	NM_004836.7(EIF2AK3):c.907G>A (p.Ala303Thr)	EIF2AK3 (A152T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2560110	NM_004836.7(EIF2AK3):c.869A>G (p.Glu290Gly)	EIF2AK3 (E139G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1044324	NM_004836.7(EIF2AK3):c.845C>T (p.Thr282Ile)	EIF2AK3 (T131I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1010682	NM_004836.7(EIF2AK3):c.821C>T (p.Thr274Met)	EIF2AK3 (T123M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2328196	NM_004836.7(EIF2AK3):c.800G>A (p.Arg267Gln)	EIF2AK3 (R116Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087871	NM_004836.7(EIF2AK3):c.751C>T (p.Arg251Cys)	EIF2AK3 (R251C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 337419	NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His)	EIF2AK3 (R240H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2328195	NM_004836.7(EIF2AK3):c.680A>G (p.Asp227Gly)	EIF2AK3 (D227G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274943	NM_004836.7(EIF2AK3):c.670T>C (p.Trp224Arg)	EIF2AK3 (W73R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1518515	NM_004836.7(EIF2AK3):c.530C>T (p.Thr177Ile)	EIF2AK3 (T177I +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +2 more	GUncertain significance
Select item 3274944	NM_004836.7(EIF2AK3):c.398G>C (p.Gly133Ala)	EIF2AK3 (G133A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401710	NM_004836.7(EIF2AK3):c.311C>T (p.Ser104Leu)	EIF2AK3 (S104L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3087870	NM_004836.7(EIF2AK3):c.304G>A (p.Gly102Ser)	EIF2AK3 (G102S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1336281	NM_004836.7(EIF2AK3):c.265G>A (p.Gly89Ser)	EIF2AK3 (G89S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2000131	NM_004836.7(EIF2AK3):c.245C>G (p.Ala82Gly)	EIF2AK3 (A82G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1411096	NM_004836.7(EIF2AK3):c.170C>T (p.Thr57Met)	EIF2AK3 (T57M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2293446	NM_004836.7(EIF2AK3):c.157C>G (p.Pro53Ala)	EIF2AK3 (P53A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 917440	NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val)	EIF2AK3 (A50V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 284272	NM_004836.7(EIF2AK3):c.112G>A (p.Ala38Thr)	EIF2AK3 (A38T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1427977	NM_004836.7(EIF2AK3):c.70G>C (p.Ala24Pro)	EIF2AK3 (A24P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 337420	NM_004836.7(EIF2AK3):c.68T>G (p.Leu23Arg)	EIF2AK3 (L23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1622925	NM_004836.7(EIF2AK3):c.35G>C (p.Arg12Pro)	EIF2AK3 (R12P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2530945	NM_004836.7(EIF2AK3):c.17G>A (p.Ser6Asn)	EIF2AK3 (S6N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530944	NM_004836.7(EIF2AK3):c.16A>C (p.Ser6Arg)	EIF2AK3 (S6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 337421	NM_004836.7(EIF2AK3):c.13A>G (p.Ile5Val)	EIF2AK3 (I5V)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +2 more	GUncertain significance

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Items: 59