Related gene-specific medical variations for Gene (Select 8890) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054385	NM_001034116.2(EIF2B4):c.905C>T (p.Ala302Val)	EIF2B4, GTF3C2-AS2 (A107V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3027101	NM_001034116.2(EIF2B4):c.1173C>T (p.Ala391=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021741	NM_001034116.2(EIF2B4):c.1013+13C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013560	NM_001034116.2(EIF2B4):c.1095A>G (p.Pro365=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012817	NM_001034116.2(EIF2B4):c.951G>A (p.Gln317=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012019	NM_001034116.2(EIF2B4):c.1021C>T (p.Leu341=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007705	NM_001034116.2(EIF2B4):c.1192-12C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007525	NM_001034116.2(EIF2B4):c.706-4A>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3004529	NM_001034116.2(EIF2B4):c.1372+12A>G	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003406	NM_001034116.2(EIF2B4):c.813G>A (p.Ala271=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3002641	NM_001034116.2(EIF2B4):c.1437C>T (p.His479=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998227	NM_001034116.2(EIF2B4):c.1372+10C>G	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997396	NM_001034116.2(EIF2B4):c.1188A>G (p.Pro396=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991722	NM_001034116.2(EIF2B4):c.1373-18G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984742	NM_001034116.2(EIF2B4):c.868del (p.Ser290fs)	EIF2B4, GTF3C2-AS2 (S275fs +7 more)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2982440	NM_001034116.2(EIF2B4):c.804C>G (p.Pro268=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2975948	NM_001034116.2(EIF2B4):c.947C>G (p.Ala316Gly)	EIF2B4, GTF3C2-AS2 (A110G +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2972417	NM_001034116.2(EIF2B4):c.1192-12_1192-10del	EIF2B4, GTF3C2-AS2	Deletion (intron variant)	not provided	GLikely benign
Select item 2968027	NM_001034116.2(EIF2B4):c.1013+16T>C	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963806	NM_001034116.2(EIF2B4):c.752dup (p.Asp251fs)	EIF2B4, GTF3C2-AS2 (D220fs +7 more)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2962787	NM_001034116.2(EIF2B4):c.1221A>G (p.Ala407=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956387	NM_001034116.2(EIF2B4):c.1275G>A (p.Leu425=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955859	NM_001034116.2(EIF2B4):c.1373-14G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911667	NM_001034116.2(EIF2B4):c.1398G>A (p.Lys466=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908838	NM_001034116.2(EIF2B4):c.825C>T (p.Asn275=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2899885	NM_001034116.2(EIF2B4):c.783-7A>G	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2888871	NM_001034116.2(EIF2B4):c.1422T>C (p.Ala474=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887876	NM_001034116.2(EIF2B4):c.1491G>A (p.Val497=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887044	NM_001034116.2(EIF2B4):c.1533T>C (p.Ser511=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883413	NM_001034116.2(EIF2B4):c.1060C>A (p.Arg354=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881253	NM_001034116.2(EIF2B4):c.1257G>A (p.Gly419=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878134	NM_001034116.2(EIF2B4):c.1373-7A>T	GTF3C2-AS2, EIF2B4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876675	NM_001034116.2(EIF2B4):c.1014-17dup	EIF2B4, GTF3C2-AS2	Duplication (intron variant)	not provided	GLikely benign
Select item 2875465	NM_001034116.2(EIF2B4):c.706-16C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2874879	NM_001034116.2(EIF2B4):c.706-8C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2874450	NM_001034116.2(EIF2B4):c.886-11A>G	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872603	NM_001034116.2(EIF2B4):c.927A>G (p.Gln309=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869920	NM_001034116.2(EIF2B4):c.1373-14G>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869618	NM_001034116.2(EIF2B4):c.1305G>A (p.Leu435=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869300	NM_001034116.2(EIF2B4):c.1143C>T (p.Val381=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865571	NM_001034116.2(EIF2B4):c.706-8C>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2862444	NM_001034116.2(EIF2B4):c.873G>A (p.Lys291=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2859693	NM_001034116.2(EIF2B4):c.1159C>T (p.Leu387=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854982	NM_001034116.2(EIF2B4):c.787C>T (p.Leu263=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2854647	NM_001034116.2(EIF2B4):c.782+12A>G	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2853688	NM_001034116.2(EIF2B4):c.1536A>G (p.Val512=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845638	NM_001034116.2(EIF2B4):c.1146A>G (p.Pro382=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842531	NM_001034116.2(EIF2B4):c.1566C>T (p.Asp522=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842426	NM_001034116.2(EIF2B4):c.1191+20A>G	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840719	NM_001034116.2(EIF2B4):c.1192-5A>C	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840472	NM_001034116.2(EIF2B4):c.1030C>T (p.Arg344Ter)	EIF2B4, GTF3C2-AS2 (R313* +7 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2839462	NM_001034116.2(EIF2B4):c.783-20G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2834291	NM_001034116.2(EIF2B4):c.1035T>C (p.Ile345=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834142	NM_001034116.2(EIF2B4):c.706-10dup	EIF2B4, GTF3C2-AS2	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2829662	NM_001034116.2(EIF2B4):c.1192-14C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827153	NM_001034116.2(EIF2B4):c.1191+20A>C	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827149	NM_001034116.2(EIF2B4):c.1013+1G>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2825980	NM_001034116.2(EIF2B4):c.1510C>T (p.Leu504=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819823	NM_001034116.2(EIF2B4):c.1569G>A (p.Gln523=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818566	NM_001034116.2(EIF2B4):c.1459C>T (p.Leu487=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817571	NM_001034116.2(EIF2B4):c.783-15G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2813686	NM_001034116.2(EIF2B4):c.1014-17C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807631	NM_001034116.2(EIF2B4):c.782+7A>G	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2805539	NM_001034116.2(EIF2B4):c.1206A>G (p.Leu402=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805417	NM_001034116.2(EIF2B4):c.887C>T (p.Ala296Val)	EIF2B4, GTF3C2-AS2 (A296V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801339	NM_001034116.2(EIF2B4):c.1116A>G (p.Thr372=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800805	NM_001034116.2(EIF2B4):c.720C>T (p.Tyr240=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2800271	NM_001034116.2(EIF2B4):c.777C>T (p.Tyr259=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2798079	NM_001034116.2(EIF2B4):c.798C>T (p.Cys266=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2797461	NM_001034116.2(EIF2B4):c.1191+19del	EIF2B4, GTF3C2-AS2	Deletion (intron variant)	not provided	GLikely benign
Select item 2797409	NM_001034116.2(EIF2B4):c.885+14G>C	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2796259	NM_001034116.2(EIF2B4):c.782+19G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2796012	NM_001034116.2(EIF2B4):c.1014-12C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795299	NM_001034116.2(EIF2B4):c.1119A>G (p.Leu373=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794697	NM_001034116.2(EIF2B4):c.1207T>C (p.Leu403=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794679	NM_001034116.2(EIF2B4):c.1173C>G (p.Ala391=)	GTF3C2-AS2, EIF2B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794299	NM_001034116.2(EIF2B4):c.782+20T>C	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2792119	NM_001034116.2(EIF2B4):c.1248A>G (p.Ser416=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788963	NM_001034116.2(EIF2B4):c.1293T>C (p.Asn431=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788810	NM_001034116.2(EIF2B4):c.1192-20C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787945	NM_001034116.2(EIF2B4):c.782+15A>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2786809	NM_001034116.2(EIF2B4):c.879A>G (p.Glu293=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2783635	NM_001034116.2(EIF2B4):c.828C>T (p.Ala276=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2781166	NM_001034116.2(EIF2B4):c.1192-19C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779882	NM_001034116.2(EIF2B4):c.783-16T>C	EIF2B4, GTF3C2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2778088	NM_001034116.2(EIF2B4):c.1008T>C (p.Tyr336=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771759	NM_001034116.2(EIF2B4):c.1372+19A>G	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765375	NM_001034116.2(EIF2B4):c.1372+9G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762705	NM_001034116.2(EIF2B4):c.1374T>C (p.Asp458=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757460	NM_001034116.2(EIF2B4):c.782+16_782+17del	EIF2B4, GTF3C2-AS2	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2754906	NM_001034116.2(EIF2B4):c.1013+67_1169del	EIF2B4, GTF3C2-AS2	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 2752095	NM_001034116.2(EIF2B4):c.940C>T (p.Leu314=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749724	NM_001034116.2(EIF2B4):c.1302G>T (p.Val434=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748063	NM_001034116.2(EIF2B4):c.1476T>G (p.Thr492=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735818	NM_001034116.2(EIF2B4):c.782+18_782+30del	EIF2B4, GTF3C2-AS2	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2729483	NM_001034116.2(EIF2B4):c.1389G>A (p.Leu463=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719251	NM_001034116.2(EIF2B4):c.969T>C (p.Ala323=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718473	NM_001034116.2(EIF2B4):c.1152C>T (p.Ser384=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710295	NM_001034116.2(EIF2B4):c.1230C>T (p.Ala410=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702011	NM_001034116.2(EIF2B4):c.783-12G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign

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