ClinVar for MedGen (Select 355454) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362603	NM_001374828.1(ARID1B):c.5979_5982del (p.Lys1994fs)	ARID1B (K1161fs +3 more)	Deletion (frameshift variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3362602	NM_001033855.3(DCLRE1C):c.1299_1306del (p.Gly434fs)	DCLRE1C (G314fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3362558	NM_001374828.1(ARID1B):c.6300del (p.Lys2100fs)	ARID1B (K1267fs +3 more)	Deletion (frameshift variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic
Select item 3244875	NC_000010.10:g.(?_14978517)_(14981888_?)dup	DCLRE1C	Duplication	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic
Select item 3244874	NC_000010.10:g.(?_14976359)_(14976794_?)del	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3244873	NC_000010.10:g.(?_14974833)_(14981888_?)del	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3244872	NC_000010.10:g.(?_14950407)_(14981888_?)del	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3244870	NC_000010.10:g.(?_14976359)_(14996009_?)del	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3244869	NC_000010.10:g.(?_14977442)_(14996009_?)del	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3244868	NC_000010.10:g.(?_14981789)_(14996009_?)del	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3244867	NC_000010.10:g.(?_14987084)_(14996009_?)del	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3244866	NC_000010.10:g.(?_14977442)_(14977583_?)del	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 3244865	NC_000010.10:g.(?_14964960)_(14966845_?)del	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3068164	NM_001033855.3(DCLRE1C):c.350C>A (p.Pro117Gln)	DCLRE1C (P117Q)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 3065246	NM_001033855.3(DCLRE1C):c.1087del (p.Gln363fs)	DCLRE1C (Q243fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic
Select item 3065152	NM_001033855.3(DCLRE1C):c.1299A>G (p.Pro433=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 3064768	NM_001033855.3(DCLRE1C):c.1061+1G>A	DCLRE1C	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic
Select item 3023609	NM_001033855.3(DCLRE1C):c.780+20C>T	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3023565	NM_001033855.3(DCLRE1C):c.972+13C>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3021130	NM_001033855.3(DCLRE1C):c.1869T>C (p.Thr623=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3019238	NM_001033855.3(DCLRE1C):c.1011A>G (p.Ala337=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3018752	NM_001033855.3(DCLRE1C):c.973-7T>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3017522	NM_001033855.3(DCLRE1C):c.918-18_918-17del	DCLRE1C	Microsatellite (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3016429	NM_001033855.3(DCLRE1C):c.1157-18_1157-16dup	DCLRE1C	Duplication (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3015010	NM_001033855.3(DCLRE1C):c.1536G>A (p.Val512=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3014788	NM_001033855.3(DCLRE1C):c.465-16T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3014069	NM_001033855.3(DCLRE1C):c.307-14T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3013795	NM_001033855.3(DCLRE1C):c.678+18T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3012483	NM_001033855.3(DCLRE1C):c.678+19C>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3007254	NM_001033855.3(DCLRE1C):c.1062-18T>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3005059	NM_001033855.3(DCLRE1C):c.1104G>A (p.Lys368=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3002797	NM_001033855.3(DCLRE1C):c.537+17G>T	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3000554	NM_001033855.3(DCLRE1C):c.464+20T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2999368	NM_001033855.3(DCLRE1C):c.973-18T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2998223	NM_001033855.3(DCLRE1C):c.678+2T>G	DCLRE1C	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GLikely pathogenic
Select item 2996868	NM_001033855.3(DCLRE1C):c.668T>G (p.Leu223Ter)	DCLRE1C (L103* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 2995194	NM_001033855.3(DCLRE1C):c.1596C>A (p.Ile532=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2992721	NM_001033855.3(DCLRE1C):c.189T>G (p.Pro63=)	DCLRE1C	Single nucleotide variant (synonymous variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2985572	NM_001033855.3(DCLRE1C):c.464+18G>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2981460	NM_001033855.3(DCLRE1C):c.1061+16T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2980738	NM_001033855.3(DCLRE1C):c.357A>C (p.Ser119=)	DCLRE1C	Single nucleotide variant (synonymous variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2979922	NM_001033855.3(DCLRE1C):c.1590T>C (p.Thr530=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2979757	NM_001033855.3(DCLRE1C):c.909A>G (p.Val303=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2979057	NM_001033855.3(DCLRE1C):c.109+20C>T	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2978807	NM_001033855.3(DCLRE1C):c.105C>T (p.His35=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2977885	NM_001033855.3(DCLRE1C):c.1440A>G (p.Gln480=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2977498	NM_001033855.3(DCLRE1C):c.60T>C (p.Asp20=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2970014	NM_001033855.3(DCLRE1C):c.2022G>A (p.Leu674=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2969476	NM_001033855.3(DCLRE1C):c.1978_1981dup (p.Leu661Ter)	DCLRE1C (L546* +2 more)	Duplication (nonsense +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +2 more	GUncertain significance
Select item 2965609	NM_001033855.3(DCLRE1C):c.414A>G (p.Arg138=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2961133	NM_001033855.3(DCLRE1C):c.966C>T (p.Tyr322=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2960107	NM_001033855.3(DCLRE1C):c.765A>G (p.Ala255=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2958048	NM_001033855.3(DCLRE1C):c.110-12T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2956882	NM_001033855.3(DCLRE1C):c.307-18T>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2919201	NM_001033855.3(DCLRE1C):c.1149A>G (p.Arg383=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2916399	NM_001033855.3(DCLRE1C):c.973-14T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2916071	NM_001033855.3(DCLRE1C):c.537+12T>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2915331	NM_001033855.3(DCLRE1C):c.972+12C>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2915210	NM_001033855.3(DCLRE1C):c.464+17A>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2912778	NM_001033855.3(DCLRE1C):c.307-13A>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2912393	NM_001033855.3(DCLRE1C):c.679-14A>T	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2911453	NM_001033855.3(DCLRE1C):c.917+20G>T	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2908831	NM_001033855.3(DCLRE1C):c.1061+9T>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2906903	NM_001033855.3(DCLRE1C):c.465-13T>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2905601	NM_001033855.3(DCLRE1C):c.891G>A (p.Arg297=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2905254	NM_001033855.3(DCLRE1C):c.901A>C (p.Thr301Pro)	DCLRE1C (T301P +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 2904942	NM_001033855.3(DCLRE1C):c.110-16G>T	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2901366	NM_001033855.3(DCLRE1C):c.1362A>G (p.Glu454=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2899088	NM_001033855.3(DCLRE1C):c.781-7T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2899042	NM_001033855.3(DCLRE1C):c.1824A>G (p.Arg608=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2898936	NM_001033855.3(DCLRE1C):c.362+14T>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2898621	NM_001033855.3(DCLRE1C):c.328del (p.Leu110fs)	DCLRE1C (L110fs)	Deletion (frameshift variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 2896151	NM_001033855.3(DCLRE1C):c.846C>A (p.Leu282=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2895547	NM_001033855.3(DCLRE1C):c.307-17C>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2894466	NM_001033855.3(DCLRE1C):c.1363_1383del (p.Ser455_Glu461del)	DCLRE1C	Deletion (inframe_deletion +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 2893525	NM_001033855.3(DCLRE1C):c.306+19T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2893524	NM_001033855.3(DCLRE1C):c.973-19G>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2892192	NM_001033855.3(DCLRE1C):c.109+17C>T	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2891870	NM_001033855.3(DCLRE1C):c.307-18T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2886247	NM_001033855.3(DCLRE1C):c.247-5T>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2881688	NM_001033855.3(DCLRE1C):c.840T>A (p.Ile280=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2881614	NM_001033855.3(DCLRE1C):c.726T>G (p.Leu242=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2877044	NM_001033855.3(DCLRE1C):c.1107T>C (p.Tyr369=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2875809	NM_001033855.3(DCLRE1C):c.1170C>T (p.Asp390=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2871604	NM_001033855.3(DCLRE1C):c.363-5T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2870631	NM_001033855.3(DCLRE1C):c.1061+15G>T	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2866609	NM_001033855.3(DCLRE1C):c.1157-4A>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2866572	NM_001033855.3(DCLRE1C):c.306+18A>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2866052	NM_001033855.3(DCLRE1C):c.2061C>T (p.Cys687=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2860102	NM_001033855.3(DCLRE1C):c.972+14A>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2859930	NM_001033855.3(DCLRE1C):c.1270A>T (p.Lys424Ter)	DCLRE1C (K304* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 2859251	NM_001033855.3(DCLRE1C):c.1650C>T (p.Gly550=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2858507	NM_001033855.3(DCLRE1C):c.537+1G>T	DCLRE1C	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic
Select item 2857872	NM_001033855.3(DCLRE1C):c.780+16_780+30del	DCLRE1C	Deletion (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2856903	NM_001033855.3(DCLRE1C):c.972+18_972+19insCATATAAT	DCLRE1C	Microsatellite (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2856039	NM_001033855.3(DCLRE1C):c.567G>C (p.Leu189=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2855343	NM_001033855.3(DCLRE1C):c.109+19T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2853134	NM_001033855.3(DCLRE1C):c.774T>C (p.His258=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2852460	NM_001033855.3(DCLRE1C):c.240A>G (p.Lys80=)	DCLRE1C	Single nucleotide variant (synonymous variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 2852350	NM_001033855.3(DCLRE1C):c.109+13T>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign

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