Related gene-specific medical variations for Gene (Select 9451) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3013643	NM_004836.7(EIF2AK3):c.3330T>C (p.His1110=)	LOC101928371, 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 3007858	NM_004836.7(EIF2AK3):c.3129T>C (p.Phe1043=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2986471	NM_004836.7(EIF2AK3):c.3088-20G>A	EIF2AK3, LOC101928371	Single nucleotide variant (intron 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 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 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 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 2971390	NM_004836.7(EIF2AK3):c.3034C>T (p.Leu1012=)	EIF2AK3, LOC101928371	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 2965530	NM_004836.7(EIF2AK3):c.2919C>G (p.Thr973=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous 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 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 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 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 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
Select item 2878338	NM_004836.7(EIF2AK3):c.2733G>A (p.Arg911=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2877471	NM_004836.7(EIF2AK3):c.3088-14T>G	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877177	NM_004836.7(EIF2AK3):c.2571T>C (p.Pro857=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2876061	NM_004836.7(EIF2AK3):c.2586T>G (p.Thr862=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2875841	NM_004836.7(EIF2AK3):c.3088-15T>G	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873904	NM_004836.7(EIF2AK3):c.2712T>C (p.Cys904=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2871224	NM_004836.7(EIF2AK3):c.2211G>A (p.Gln737=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2867478	NM_004836.7(EIF2AK3):c.3282C>T (p.Ser1094=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866575	NM_004836.7(EIF2AK3):c.3150+8T>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866083	NM_004836.7(EIF2AK3):c.2985+15C>G	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859177	NM_004836.7(EIF2AK3):c.3124T>C (p.Leu1042=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855818	NM_004836.7(EIF2AK3):c.3324C>T (p.Asn1108=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844723	NM_004836.7(EIF2AK3):c.3150+16A>T	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844450	NM_004836.7(EIF2AK3):c.2367T>C (p.Pro789=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2840498	NM_004836.7(EIF2AK3):c.2613C>A (p.Thr871=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2839407	NM_004836.7(EIF2AK3):c.3088-15T>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839225	NM_004836.7(EIF2AK3):c.3160G>A (p.Val1054Ile)	EIF2AK3, LOC101928371 (V1054I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838375	NM_004836.7(EIF2AK3):c.2986-18C>G	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836995	NM_004836.7(EIF2AK3):c.3087+6dup	EIF2AK3, LOC101928371	Duplication (intron variant)	not provided	GLikely benign
Select item 2836357	NM_004836.7(EIF2AK3):c.3279C>T (p.Arg1093=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835002	NM_004836.7(EIF2AK3):c.2699del (p.Met900fs)	EIF2AK3, LOC101928371 (M749fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2834584	NM_004836.7(EIF2AK3):c.3088-4T>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834170	NM_004836.7(EIF2AK3):c.2910G>T (p.Thr970=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830478	NM_004836.7(EIF2AK3):c.3096T>C (p.Thr1032=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827664	NM_004836.7(EIF2AK3):c.2259G>A (p.Glu753=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2826265	NM_004836.7(EIF2AK3):c.3108T>C (p.Asn1036=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825535	NM_004836.7(EIF2AK3):c.3339G>A (p.Leu1113=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824438	NM_004836.7(EIF2AK3):c.3265A>C (p.Arg1089=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822978	NM_004836.7(EIF2AK3):c.3054G>A (p.Leu1018=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818990	NM_004836.7(EIF2AK3):c.3087+16A>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814311	NM_004836.7(EIF2AK3):c.2295C>T (p.Cys765=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2813807	NM_004836.7(EIF2AK3):c.2598T>C (p.Asp866=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2808164	NM_004836.7(EIF2AK3):c.2037-15T>C	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2806640	NM_004836.7(EIF2AK3):c.3102A>G (p.Val1034=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806636	NM_004836.7(EIF2AK3):c.3285G>A (p.Leu1095=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806569	NM_004836.7(EIF2AK3):c.3279C>A (p.Arg1093=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806352	NM_004836.7(EIF2AK3):c.2106T>A (p.Pro702=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2803900	NM_004836.7(EIF2AK3):c.2994A>G (p.Gly998=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801886	NM_004836.7(EIF2AK3):c.2649T>C (p.Tyr883=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2801882	NM_004836.7(EIF2AK3):c.2840T>G (p.Met947Arg)	EIF2AK3, LOC101928371 (M796R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797487	NM_004836.7(EIF2AK3):c.2724G>A (p.Glu908=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2794963	NM_004836.7(EIF2AK3):c.3036G>A (p.Leu1012=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790163	NM_004836.7(EIF2AK3):c.3087+17C>A	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785322	NM_004836.7(EIF2AK3):c.3151-11T>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785148	NM_004836.7(EIF2AK3):c.2346G>A (p.Gly782=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2783934	NM_004836.7(EIF2AK3):c.3088-17A>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783933	NM_004836.7(EIF2AK3):c.3088-8del	EIF2AK3, LOC101928371	Deletion (intron variant)	not provided	GLikely benign
Select item 2779358	NM_004836.7(EIF2AK3):c.2817+9_2817+10del	EIF2AK3, LOC101928371	Deletion (intron variant +1 more)	not provided	GLikely benign
Select item 2778209	NM_004836.7(EIF2AK3):c.2352C>T (p.Ser784=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2778097	NM_004836.7(EIF2AK3):c.2986-8del	EIF2AK3, LOC101928371	Deletion (intron variant)	not provided	GLikely benign
Select item 2776532	NM_004836.7(EIF2AK3):c.2199A>T (p.Ser733=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2771906	NM_004836.7(EIF2AK3):c.2904G>A (p.Glu968=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767802	NM_004836.7(EIF2AK3):c.3141T>A (p.Tyr1047Ter)	EIF2AK3, LOC101928371 (Y1047* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2767058	NM_004836.7(EIF2AK3):c.2601C>T (p.Leu867=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2765217	NM_004836.7(EIF2AK3):c.2517T>C (p.Ala839=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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