ClinVar for MedGen (Select 355454) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3893089	NM_001033855.3(DCLRE1C):c.869C>T (p.Ser290Phe)	DCLRE1C (S290F +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 3730673	NM_001033855.3(DCLRE1C):c.1061+15G>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3730323	NM_001033855.3(DCLRE1C):c.81C>T (p.Arg27=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3730211	NM_001033855.3(DCLRE1C):c.29A>G (p.Glu10Gly)	DCLRE1C (E10G)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 3730178	NM_001033855.3(DCLRE1C):c.48A>G (p.Ile16Met)	DCLRE1C (I16M)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 3730009	NM_001033855.3(DCLRE1C):c.492G>A (p.Leu164=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3728241	NM_001033855.3(DCLRE1C):c.700del (p.Met234fs)	DCLRE1C (M114fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3724436	NM_001033855.3(DCLRE1C):c.669A>G (p.Leu223=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3724414	NM_001033855.3(DCLRE1C):c.973-7T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3720924	NM_001033855.3(DCLRE1C):c.1A>G (p.Met1Val)	DCLRE1C (M1V)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic
Select item 3717351	NM_001033855.3(DCLRE1C):c.464+6G>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 3715287	NM_001033855.3(DCLRE1C):c.132C>T (p.Ala44=)	DCLRE1C	Single nucleotide variant (synonymous variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3714245	NM_001033855.3(DCLRE1C):c.957C>A (p.His319Gln)	DCLRE1C (H199Q +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 3709738	NM_001033855.3(DCLRE1C):c.1825G>T (p.Asp609Tyr)	DCLRE1C (D609Y +2 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 3708340	NM_001033855.3(DCLRE1C):c.780+14T>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3705457	NM_001033855.3(DCLRE1C):c.678+15C>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3695556	NM_001033855.3(DCLRE1C):c.1907del (p.Leu636fs)	DCLRE1C (L521fs +2 more)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3693403	NM_001033855.3(DCLRE1C):c.109+11G>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3679402	NM_001033855.3(DCLRE1C):c.1269A>G (p.Glu423=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3674200	NM_001033855.3(DCLRE1C):c.175C>G (p.Leu59Val)	DCLRE1C (L59V)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 3670270	NM_001033855.3(DCLRE1C):c.1293A>G (p.Gln431=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3665185	NM_001033855.3(DCLRE1C):c.363-12T>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3659299	NM_001033855.3(DCLRE1C):c.362+2T>C	DCLRE1C	Single nucleotide variant (intron variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3658345	NM_001033855.3(DCLRE1C):c.1164A>C (p.Glu388Asp)	DCLRE1C (E273D +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 3657828	NM_001033855.3(DCLRE1C):c.109+16G>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3655555	NM_001033855.3(DCLRE1C):c.1274dup (p.Pro426fs)	DCLRE1C (P306fs +2 more)	Duplication (frameshift variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3649212	NM_001033855.3(DCLRE1C):c.476del (p.Ile159fs)	DCLRE1C (I159fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3648746	NM_001033855.3(DCLRE1C):c.464+16T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3647875	NM_001033855.3(DCLRE1C):c.1989A>G (p.Lys663=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3646374	NM_001033855.3(DCLRE1C):c.1986T>C (p.Pro662=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3645911	NM_001033855.3(DCLRE1C):c.464+10C>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3645069	NM_001033855.3(DCLRE1C):c.161+9T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3641201	NM_001033855.3(DCLRE1C):c.1156+18G>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3640480	NM_001033855.3(DCLRE1C):c.1233T>C (p.Phe411=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3640171	NM_001033855.3(DCLRE1C):c.109+7G>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3639723	NM_001033855.3(DCLRE1C):c.109+14G>T	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3639710	NM_001033855.3(DCLRE1C):c.162-14T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3639040	NM_001033855.3(DCLRE1C):c.813C>G (p.Pro271=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3633294	NM_001033855.3(DCLRE1C):c.781-11A>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3625873	NM_001033855.3(DCLRE1C):c.1156+11T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3620461	NM_001033855.3(DCLRE1C):c.973-18T>G	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3620361	NM_001033855.3(DCLRE1C):c.246+11T>C	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 3591533	NM_001033855.3(DCLRE1C):c.329T>G (p.Leu110Arg)	DCLRE1C (L110R)	Single nucleotide variant (missense variant +3 more)	Histiocytic medullary reticulosis +1 more	GLikely pathogenic
Select item 3591517	NM_001033855.3(DCLRE1C):c.368T>A (p.Leu123Ter)	DCLRE1C (L3* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis +1 more	GLikely pathogenic
Select item 3591501	NM_001033855.3(DCLRE1C):c.640dup (p.Tyr214fs)	DCLRE1C (Y99fs +2 more)	Duplication (frameshift variant +1 more)	Histiocytic medullary reticulosis +1 more	GLikely pathogenic
Select item 3591493	NM_001033855.3(DCLRE1C):c.1774del (p.Glu592fs)	DCLRE1C (E592fs +2 more)	Deletion (frameshift variant +1 more)	Histiocytic medullary reticulosis +1 more	GLikely pathogenic
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 3251745	NM_001033855.3(DCLRE1C):c.353G>T (p.Gly118Val)	DCLRE1C (G118V)	Single nucleotide variant (intron variant +3 more)	Severe combined immunodeficiency disease +2 more	GPathogenic/Likely 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)	not provided +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

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