ClinVar for MedGen (Select 816457) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244674	NC_000011.9:g.(?_118175668)_(118186257_?)dup	CD3E	Duplication	Immunodeficiency 18	GUncertain significance
Select item 3244672	NC_000011.9:g.(?_118175668)_(118178043_?)del	CD3E	Deletion	Immunodeficiency 18	GPathogenic
Select item 3064927	NM_000733.4(CD3E):c.521-1G>A	CD3E	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 18	GUncertain significance
Select item 3011383	NM_000733.4(CD3E):c.171A>C (p.Ile57=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 3009432	NM_000733.4(CD3E):c.39C>T (p.Cys13=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 3009131	NM_000733.4(CD3E):c.520+10T>C	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 3006536	NM_000733.4(CD3E):c.521-5C>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 3004598	NM_000733.4(CD3E):c.353-11_353-7del	CD3E	Microsatellite (intron variant)	Immunodeficiency 18	GLikely benign
Select item 3002893	NM_000733.4(CD3E):c.30G>T (p.Leu10=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 3001819	NM_000733.4(CD3E):c.521-13C>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2999914	NM_000733.4(CD3E):c.268T>C (p.Leu90=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2995886	NM_000733.4(CD3E):c.521-9C>G	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2991683	NM_000733.4(CD3E):c.592C>T (p.Leu198=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2983402	NM_000733.4(CD3E):c.15T>G (p.Thr5=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2980179	NM_000733.4(CD3E):c.70+11CTTT[3]	CD3E	Microsatellite (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2979335	NM_000733.4(CD3E):c.85+20A>C	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2978439	NM_000733.4(CD3E):c.353-6C>G	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2976594	NM_000733.4(CD3E):c.521-9C>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2974433	NM_000733.4(CD3E):c.360G>A (p.Glu120=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2973170	NM_000733.4(CD3E):c.210G>A (p.Glu70=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2967725	NM_000733.4(CD3E):c.417C>T (p.Cys139=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2963757	NM_000733.4(CD3E):c.285T>C (p.Tyr95=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2962946	NM_000733.4(CD3E):c.86-10dup	CD3E	Duplication (intron variant)	Immunodeficiency 18	GBenign
Select item 2917480	NM_000733.4(CD3E):c.49+14A>G	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2914630	NM_000733.4(CD3E):c.567+18T>A	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2909719	NM_000733.4(CD3E):c.435G>A (p.Leu145=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2908914	NM_000733.4(CD3E):c.104-6C>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2905509	NM_000733.4(CD3E):c.70+11C>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2902865	NM_000733.4(CD3E):c.517A>C (p.Arg173=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2901635	NM_000733.4(CD3E):c.201C>T (p.Gly67=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2899332	NM_000733.4(CD3E):c.15T>C (p.Thr5=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2877731	NM_000733.4(CD3E):c.103+8T>C	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2875694	NM_000733.4(CD3E):c.189T>C (p.Asp63=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2874211	NM_000733.4(CD3E):c.520+17C>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2872888	NM_000733.4(CD3E):c.85+16_85+24dup	CD3E	Duplication (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2870121	NM_000733.4(CD3E):c.353-6C>A	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2864291	NM_000733.4(CD3E):c.472A>T (p.Lys158Ter)	CD3E (K158*)	Single nucleotide variant (nonsense)	Immunodeficiency 18	GPathogenic
Select item 2862295	NM_000733.4(CD3E):c.50-10del	CD3E	Deletion (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2861545	NM_000733.4(CD3E):c.429C>A (p.Gly143=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2856311	NM_000733.4(CD3E):c.288T>C (p.Tyr96=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2849705	NM_000733.4(CD3E):c.568-17_568-14del	CD3E	Microsatellite (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2848574	NM_000733.4(CD3E):c.568-14T>C	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2845278	NM_000733.4(CD3E):c.282T>G (p.Gly94=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2840462	NM_000733.4(CD3E):c.520+20T>C	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2827500	NM_000733.4(CD3E):c.568-6C>G	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2827117	NM_000733.4(CD3E):c.42C>T (p.Leu14=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2826886	NM_000733.4(CD3E):c.353-12C>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2825452	NM_000733.4(CD3E):c.520+19G>C	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2822144	NM_000733.4(CD3E):c.353-9C>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2819194	NM_000733.4(CD3E):c.567+8G>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2817581	NM_000733.4(CD3E):c.504T>G (p.Ala168=)	CD3E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2814303	NM_000733.4(CD3E):c.50-4C>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2813201	NM_000733.4(CD3E):c.104-12C>A	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2806266	NM_000733.4(CD3E):c.324G>T (p.Ala108=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2804949	NM_000733.4(CD3E):c.567+7T>C	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2795747	NM_000733.4(CD3E):c.475G>T (p.Ala159Ser)	CD3E (A159S)	Single nucleotide variant (missense variant)	Immunodeficiency 18	GUncertain significance
Select item 2792883	NM_000733.4(CD3E):c.70+15C>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2791634	NM_000733.4(CD3E):c.353-5del	CD3E	Deletion (intron variant)	Immunodeficiency 18	GBenign
Select item 2788273	NM_000733.4(CD3E):c.353-15C>A	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2787892	NM_000733.4(CD3E):c.436C>T (p.Leu146=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2786487	NM_000733.4(CD3E):c.49+1G>A	CD3E	Single nucleotide variant (splice donor variant)	Immunodeficiency 18	GPathogenic
Select item 2779915	NM_000733.4(CD3E):c.521-4G>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2772675	NM_000733.4(CD3E):c.103+14T>A	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2772253	NM_000733.4(CD3E):c.86-15T>C	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2767567	NM_000733.4(CD3E):c.568-3dup	CD3E	Duplication (intron variant)	Immunodeficiency 18	GBenign
Select item 2764809	NM_000733.4(CD3E):c.568-9C>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2761719	NM_000733.4(CD3E):c.147C>T (p.Cys49=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2758738	NM_000733.4(CD3E):c.104-18T>C	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2756645	NM_000733.4(CD3E):c.49+8G>A	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2753427	NM_000733.4(CD3E):c.353-15C>T	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2752961	NM_000733.4(CD3E):c.71-10T>C	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2751785	NM_000733.4(CD3E):c.568-16T>G	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GBenign
Select item 2746790	NM_000733.4(CD3E):c.490C>A (p.Arg164=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2746183	NM_000733.4(CD3E):c.468G>A (p.Lys156=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2742449	NM_000733.4(CD3E):c.86-8A>G	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2741018	NM_000733.4(CD3E):c.586C>A (p.Arg196=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2740600	NM_000733.4(CD3E):c.498G>C (p.Ala166=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2738174	NM_000733.4(CD3E):c.342G>C (p.Leu114=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2735763	NM_000733.4(CD3E):c.428del (p.Gly143fs)	CD3E (G143fs)	Deletion (frameshift variant)	Immunodeficiency 18	GPathogenic
Select item 2735762	NM_000733.4(CD3E):c.49+1G>C	CD3E	Single nucleotide variant (splice donor variant)	Immunodeficiency 18	GPathogenic
Select item 2732572	NM_000733.4(CD3E):c.258A>G (p.Glu86=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2730318	NM_000733.4(CD3E):c.50-17T>C	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2725198	NM_000733.4(CD3E):c.585G>A (p.Gln195=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2708832	NM_000733.4(CD3E):c.520+1G>A	CD3E	Single nucleotide variant (splice donor variant)	Immunodeficiency 18	GLikely pathogenic
Select item 2708519	NM_000733.4(CD3E):c.70+10G>A	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2707619	NM_000733.4(CD3E):c.353-4A>G	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2704456	NM_000733.4(CD3E):c.190A>T (p.Lys64Ter)	CD3E (K64*)	Single nucleotide variant (nonsense)	Immunodeficiency 18	GPathogenic
Select item 2704450	NM_000733.4(CD3E):c.353-4dup	CD3E	Duplication (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2700001	NM_000733.4(CD3E):c.353-1G>A	CD3E	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 18	GLikely pathogenic
Select item 2695048	NM_000733.4(CD3E):c.131_132del (p.Thr44fs)	CD3E (T44fs)	Microsatellite (frameshift variant)	Immunodeficiency 18	GPathogenic
Select item 2694429	NM_000733.4(CD3E):c.70+14T>G	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2585418	NM_000733.4(CD3E):c.409G>A (p.Asp137Asn)	CD3E (D137N)	Single nucleotide variant (missense variant)	Immunodeficiency 18	GUncertain significance
Select item 2445836	NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)	CD3E (Y96*)	Single nucleotide variant (nonsense)	Immunodeficiency 18 +1 more	GPathogenic/Likely pathogenic
Select item 2423383	NC_000011.9:g.(?_118175668)_(118179176_?)del	CD3E	Deletion	Immunodeficiency 18	GPathogenic
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 2421112	NM_000733.4(CD3E):c.71-11T>C	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign
Select item 2196664	NM_000733.4(CD3E):c.490C>G (p.Arg164Gly)	CD3E (R164G)	Single nucleotide variant (missense variant)	Immunodeficiency 18	GUncertain significance
Select item 2194142	NM_000733.4(CD3E):c.481C>G (p.Pro161Ala)	CD3E (P161A)	Single nucleotide variant (missense variant)	Immunodeficiency 18 +1 more	GUncertain significance
Select item 2179376	NM_000733.4(CD3E):c.63G>A (p.Gly21=)	CD3E	Single nucleotide variant (synonymous variant)	Immunodeficiency 18	GLikely benign
Select item 2178334	NM_000733.4(CD3E):c.71-17T>A	CD3E	Single nucleotide variant (intron variant)	Immunodeficiency 18	GLikely benign

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