Related gene-specific medical variations for Gene (Select 64421) - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3323702	NM_001193424.2(SUV39H2):c.1139T>C (p.Ile380Thr)	DCLRE1C, SUV39H2 (I200T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323701	NM_001193424.2(SUV39H2):c.719C>G (p.Pro240Arg)	DCLRE1C, SUV39H2 (P180R +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
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 3241292	NM_001033855.3(DCLRE1C):c.1156+1G>A	DCLRE1C	Single nucleotide variant (splice donor variant)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241291	NM_001033855.3(DCLRE1C):c.538-1G>A	DCLRE1C	Single nucleotide variant (splice acceptor variant)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241290	NM_001033855.3(DCLRE1C):c.1159_1184dup (p.Asp395fs)	DCLRE1C (D275fs +2 more)	Duplication (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241289	NM_001033855.3(DCLRE1C):c.879G>A (p.Trp293Ter)	DCLRE1C (W173* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GPathogenic
Select item 3241288	NM_001033855.3(DCLRE1C):c.1176_1179del (p.Phe393fs)	DCLRE1C (F273fs +2 more)	Deletion (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241287	NM_001033855.3(DCLRE1C):c.973-1G>A	DCLRE1C	Single nucleotide variant (splice acceptor variant)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241286	NM_001033855.3(DCLRE1C):c.306+1G>A	DCLRE1C	Single nucleotide variant (splice donor variant)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241285	NM_001033855.3(DCLRE1C):c.1513G>T (p.Glu505Ter)	DCLRE1C (E385* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241284	NM_001033855.3(DCLRE1C):c.1706dup (p.Asp569fs)	DCLRE1C (D449fs +2 more)	Duplication (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241283	NM_001033855.3(DCLRE1C):c.1808_1809del (p.Tyr602_Ser603insTer)	DCLRE1C	Microsatellite (nonsense +2 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241282	NM_001033855.3(DCLRE1C):c.595_596dup (p.His200fs)	DCLRE1C (H200fs +2 more)	Duplication (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241281	NM_001033855.3(DCLRE1C):c.1106dup (p.Tyr369Ter)	DCLRE1C (Y249* +2 more)	Duplication (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241280	NM_001033855.3(DCLRE1C):c.928_929dup (p.Ser310fs)	DCLRE1C (S190fs +2 more)	Microsatellite (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241279	NM_001033855.3(DCLRE1C):c.1774G>T (p.Glu592Ter)	DCLRE1C (E472* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3233381	NM_001033855.3(DCLRE1C):c.99C>G (p.His33Gln)	DCLRE1C (H33Q)	Single nucleotide variant (missense variant +2 more)	Athabaskan severe combined immunodeficiency	GUncertain significance
Select item 3220925	NM_001033855.3(DCLRE1C):c.1307delinsAGGATGCT (p.Cys436Ter)	DCLRE1C (C316* +2 more)	Indel (nonsense +1 more)	Athabaskan severe combined immunodeficiency	GLikely pathogenic
Select item 3172315	NM_001193424.2(SUV39H2):c.1159C>G (p.His387Asp)	DCLRE1C, SUV39H2 (H387D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 3061743	NM_001033855.3(DCLRE1C):c.1085C>N (p.Ser362Xaa)	DCLRE1C (S242* +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3043912	NM_001193424.2(SUV39H2):c.850-295C>G	DCLRE1C, SUV39H2	Single nucleotide variant (3 prime UTR variant +2 more)	SUV39H2-related disorder	GLikely benign
Select item 3042857	NM_001350965.2(DCLRE1C):c.1812C>T (p.Cys604=)	DCLRE1C, SUV39H2	Single nucleotide variant (synonymous variant +2 more)	DCLRE1C-related disorder	GLikely benign
Select item 2688318	NM_001193424.2(SUV39H2):c.850-483T>G	DCLRE1C, SUV39H2	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GBenign
Select item 2687839	NM_001033855.3(DCLRE1C):c.1679dup (p.Leu560fs)	DCLRE1C (L440fs +2 more)	Duplication (frameshift variant +1 more)	not specified	GLikely pathogenic
Select item 2674765	NM_001033855.3(DCLRE1C):c.246+2T>G	DCLRE1C	Single nucleotide variant (splice donor variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674763	NM_001033855.3(DCLRE1C):c.678+1G>A	DCLRE1C	Single nucleotide variant (splice donor variant)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674762	NM_001033855.3(DCLRE1C):c.1777C>T (p.Gln593Ter)	DCLRE1C (Q473* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674761	NM_001033855.3(DCLRE1C):c.274dup (p.Gln92fs)	DCLRE1C (Q92fs)	Duplication (frameshift variant +2 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674758	NM_001033855.3(DCLRE1C):c.1442dup (p.Ala482fs)	DCLRE1C (A362fs +2 more)	Duplication (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674757	NM_001033855.3(DCLRE1C):c.716del (p.Pro239fs)	DCLRE1C (P119fs +2 more)	Deletion (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674756	NM_001033855.3(DCLRE1C):c.1749dup (p.Glu584fs)	DCLRE1C (E464fs +2 more)	Duplication (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674755	NM_001033855.3(DCLRE1C):c.1319_1320del (p.Cys440fs)	DCLRE1C (C320fs +2 more)	Microsatellite (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674754	NM_001033855.3(DCLRE1C):c.1830del (p.Asp611fs)	DCLRE1C (D491fs +2 more)	Deletion (frameshift variant +2 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674752	NM_001033855.3(DCLRE1C):c.464+2T>C	DCLRE1C	Single nucleotide variant (splice donor variant)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674750	NM_001033855.3(DCLRE1C):c.676C>T (p.Gln226Ter)	DCLRE1C (Q106* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674749	NM_001033855.3(DCLRE1C):c.1797_1818dup (p.Ser607delinsGlyTyrLeuLeuTer)	DCLRE1C	Duplication (nonsense +2 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674748	NM_001033855.3(DCLRE1C):c.488_491del (p.Tyr163fs)	DCLRE1C (Y163fs +2 more)	Deletion (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674747	NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter)	DCLRE1C (L139* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674746	NM_001033855.3(DCLRE1C):c.1539_1540del (p.Gly515fs)	DCLRE1C (G395fs +2 more)	Deletion (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674745	NM_001033855.3(DCLRE1C):c.1324C>T (p.Gln442Ter)	DCLRE1C (Q322* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2640323	NM_022487.3(DCLRE1C):c.-563T>C	DCLRE1C, LOC130003418 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 2622610	NM_001193424.2(SUV39H2):c.899A>G (p.Lys300Arg)	DCLRE1C, SUV39H2 (K240R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570766	NM_001350965.2(DCLRE1C):c.*44C>G	DCLRE1C, SUV39H2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2403926	NM_001193424.2(SUV39H2):c.781C>T (p.Arg261Cys)	DCLRE1C, SUV39H2 (R261C +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 1694558	NM_001193424.2(SUV39H2):c.850-352G>A	DCLRE1C, SUV39H2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1255460	NM_001193424.2(SUV39H2):c.850-305C>T	DCLRE1C, SUV39H2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +3 more	GBenign
Select item 989767	NM_001033855.3(DCLRE1C):c.363-5T>A	DCLRE1C	Single nucleotide variant (intron variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 989760	NM_001033855.3(DCLRE1C):c.1165G>T (p.Asp389Tyr)	DCLRE1C (D269Y +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 989759	NM_001033855.3(DCLRE1C):c.1816A>C (p.Lys606Gln)	DCLRE1C (K486Q +2 more)	Single nucleotide variant (missense variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 944601	NC_000010.11:g.14935443_14954030del	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 806440	NM_001033855.3(DCLRE1C):c.1157-1_1162dup	DCLRE1C	Duplication (splice acceptor variant)	not provided	GLikely pathogenic
Select item 711031	NM_001193424.2(SUV39H2):c.850-6G>C	SUV39H2, DCLRE1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 636472	NM_001033855.3(DCLRE1C):c.1492dup (p.Glu498fs)	DCLRE1C (E498fs +2 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 100821	NM_001033855.3(DCLRE1C):c.1342A>G (p.Asn448Asp)	DCLRE1C (N448D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4676	DCLRE1C, 17-BP DEL	DCLRE1C	Deletion	Severe combined immunodeficiency, partial	GPathogenic
Select item 4672	NM_001033855.3:c.(306+1_307-1)_(678+1_679-1)del (p.Lys103_Gln226del)	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 4666	NG_007276.1:g.(?_5047)_(19287_22502)del	DCLRE1C	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic

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Items: 72