ClinVar for Gene (Select 9451) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247530	NC_000002.11:g.(?_88868947)_(88879112_?)del	EIF2AK3	Deletion	not provided	GLikely pathogenic
Select item 3241392	NM_004836.7(EIF2AK3):c.1292G>A (p.Trp431Ter)	EIF2AK3 (W280* +1 more)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 3241391	NM_004836.7(EIF2AK3):c.2256_2286del (p.Ser752fs)	EIF2AK3, LOC101928371 (S601fs +1 more)	Deletion (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 3241389	NM_004836.7(EIF2AK3):c.768del	EIF2AK3	Deletion (splice acceptor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 3241388	NM_004836.7(EIF2AK3):c.2778dup (p.Phe927fs)	EIF2AK3, LOC101928371 (F776fs +1 more)	Duplication (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 3241387	NM_004836.7(EIF2AK3):c.3081_3082del (p.Arg1027fs)	EIF2AK3, LOC101928371 (R1027fs +1 more)	Microsatellite (frameshift variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 3241386	NM_004836.7(EIF2AK3):c.295C>T (p.Arg99Ter)	EIF2AK3 (R99*)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 3239099	NM_004836.7(EIF2AK3):c.2439T>C (p.Cys813=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 3087870	NM_004836.7(EIF2AK3):c.304G>A (p.Gly102Ser)	EIF2AK3 (G102S)	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 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 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 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 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 3068048	NM_004836.7(EIF2AK3):c.3071A>C (p.Gln1024Pro)	EIF2AK3, LOC101928371 (Q1024P +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 3062514	GRCh37/hg19 2p11.2(chr2:88134750-89126290)x1	EIF2AK3, FABP1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3038044	NM_004836.7(EIF2AK3):c.2580A>C (p.Pro860=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	EIF2AK3-related disorder	GLikely benign
Select item 3037443	NM_004836.7(EIF2AK3):c.40CTG[6] (p.Leu20_Leu21del)	EIF2AK3	Microsatellite (inframe deletion)	EIF2AK3-related disorder	GLikely benign
Select item 3026628	NM_004836.7(EIF2AK3):c.1197A>G (p.Ser399=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023929	NM_004836.7(EIF2AK3):c.2109C>T (p.Phe703=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3021447	NM_004836.7(EIF2AK3):c.1764-7T>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020557	NM_004836.7(EIF2AK3):c.2817+14G>A	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3016582	NM_004836.7(EIF2AK3):c.1944C>T (p.His648=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016532	NM_004836.7(EIF2AK3):c.1886+18C>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014569	NM_004836.7(EIF2AK3):c.1977C>T (p.Leu659=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013643	NM_004836.7(EIF2AK3):c.3330T>C (p.His1110=)	LOC101928371, EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012970	NM_004836.7(EIF2AK3):c.767+13A>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012680	NM_004836.7(EIF2AK3):c.2031T>C (p.Asp677=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010966	NM_004836.7(EIF2AK3):c.93G>A (p.Gly31=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009729	NM_004836.7(EIF2AK3):c.213T>C (p.Thr71=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009456	NM_004836.7(EIF2AK3):c.3246T>C (p.Phe1082=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009449	NM_004836.7(EIF2AK3):c.2496T>C (p.His832=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3008589	NM_004836.7(EIF2AK3):c.1233C>T (p.Pro411=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007858	NM_004836.7(EIF2AK3):c.3129T>C (p.Phe1043=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006229	NM_004836.7(EIF2AK3):c.634-11del	EIF2AK3	Deletion (intron variant)	not provided	GBenign
Select item 3005381	NM_004836.7(EIF2AK3):c.3150+16_3150+17del	EIF2AK3, LOC101928371	Deletion (intron variant)	not provided	GLikely benign
Select item 3004410	NM_004836.7(EIF2AK3):c.2823C>T (p.Ser941=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004328	NM_004836.7(EIF2AK3):c.1881C>T (p.Pro627=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004291	NM_004836.7(EIF2AK3):c.2037-17A>G	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3003704	NM_004836.7(EIF2AK3):c.201G>A (p.Ala67=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997672	NM_004836.7(EIF2AK3):c.3042A>G (p.Leu1014=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995059	NM_004836.7(EIF2AK3):c.2583C>T (p.Thr861=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2993280	NM_004836.7(EIF2AK3):c.439-12C>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992700	NM_004836.7(EIF2AK3):c.783T>C (p.Val261=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991105	NM_004836.7(EIF2AK3):c.1764-14A>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990963	NM_004836.7(EIF2AK3):c.1392T>C (p.Tyr464=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988642	NM_004836.7(EIF2AK3):c.2036+20A>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988239	NM_004836.7(EIF2AK3):c.308+9C>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986471	NM_004836.7(EIF2AK3):c.3088-20G>A	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986161	NM_004836.7(EIF2AK3):c.1056C>T (p.Pro352=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2985061	NM_004836.7(EIF2AK3):c.2414C>T (p.Ser805Leu)	EIF2AK3, LOC101928371 (S654L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2983855	NM_004836.7(EIF2AK3):c.2520C>T (p.Phe840=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2983344	NM_004836.7(EIF2AK3):c.2818-7T>G	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982562	NM_004836.7(EIF2AK3):c.1764-10C>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982049	NM_004836.7(EIF2AK3):c.2460A>G (p.Glu820=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2981763	NM_004836.7(EIF2AK3):c.2721G>A (p.Glu907=)	LOC101928371, EIF2AK3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2978994	NM_004836.7(EIF2AK3):c.81G>A (p.Thr27=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978313	NM_004836.7(EIF2AK3):c.189C>T (p.Gly63=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978142	NM_004836.7(EIF2AK3):c.1886+14C>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978116	NM_004836.7(EIF2AK3):c.1166-7G>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976940	NM_004836.7(EIF2AK3):c.1650+15_1650+16insTAA	EIF2AK3	Insertion (intron variant)	not provided	GLikely benign
Select item 2976932	NM_004836.7(EIF2AK3):c.654T>C (p.Ala218=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976507	NM_004836.7(EIF2AK3):c.2556A>G (p.Thr852=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2976018	NM_004836.7(EIF2AK3):c.1429+19_1429+22del	EIF2AK3	Deletion (intron variant)	not provided	GLikely benign
Select item 2975201	NM_004836.7(EIF2AK3):c.2546_2558del (p.Ser849fs)	EIF2AK3, LOC101928371 (S698fs +1 more)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2974629	NM_004836.7(EIF2AK3):c.1887-19A>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974556	NM_004836.7(EIF2AK3):c.39G>A (p.Ala13=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971921	NM_004836.7(EIF2AK3):c.1307-9T>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971851	NM_004836.7(EIF2AK3):c.1884T>C (p.Asn628=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971390	NM_004836.7(EIF2AK3):c.3034C>T (p.Leu1012=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970932	NM_004836.7(EIF2AK3):c.546T>G (p.Leu182=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969867	NM_004836.7(EIF2AK3):c.308+16C>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969846	NM_004836.7(EIF2AK3):c.66G>T (p.Gly22=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969277	NM_004836.7(EIF2AK3):c.3111C>G (p.Leu1037=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967011	NM_004836.7(EIF2AK3):c.2772A>C (p.Ala924=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2966686	NM_004836.7(EIF2AK3):c.1887-9_1887-6del	EIF2AK3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2965530	NM_004836.7(EIF2AK3):c.2919C>G (p.Thr973=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964319	NM_004836.7(EIF2AK3):c.549A>G (p.Glu183=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963921	NM_004836.7(EIF2AK3):c.1404A>G (p.Ala468=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963038	NM_004836.7(EIF2AK3):c.1887-11CT[2]	EIF2AK3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2961770	NM_004836.7(EIF2AK3):c.439-13G>A	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961673	NM_004836.7(EIF2AK3):c.369T>C (p.His123=)	EIF2AK3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2959626	NM_004836.7(EIF2AK3):c.1887-7C>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958589	NM_004836.7(EIF2AK3):c.2958G>A (p.Gly986=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957630	NM_004836.7(EIF2AK3):c.192C>G (p.Ala64=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955121	NM_004836.7(EIF2AK3):c.2541T>A (p.Ser847=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2955104	NM_004836.7(EIF2AK3):c.1002+1G>A	EIF2AK3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2954864	NM_004836.7(EIF2AK3):c.2463G>A (p.Glu821=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2954698	NM_004836.7(EIF2AK3):c.3278G>A (p.Arg1093His)	EIF2AK3, LOC101928371 (R1093H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954693	NM_004836.7(EIF2AK3):c.1166-17T>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918723	NM_004836.7(EIF2AK3):c.1560C>T (p.His520=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908063	NM_004836.7(EIF2AK3):c.3267A>G (p.Arg1089=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907928	NM_004836.7(EIF2AK3):c.2292T>C (p.Ser764=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897959	NM_004836.7(EIF2AK3):c.186G>A (p.Ala62=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892989	NM_004836.7(EIF2AK3):c.2445T>C (p.Asn815=)	LOC101928371, EIF2AK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885978	NM_004836.7(EIF2AK3):c.3088-9dup	LOC101928371, EIF2AK3	Duplication (intron variant)	not provided	GBenign
Select item 2881428	NM_004836.7(EIF2AK3):c.2037-19G>C	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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