64421[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 59663	GRCh38/hg38 10p13(chr10:14844417-15150430)x3	RPP38-DT, SUV39H2 +23 more	Copy number gain	See cases	GPathogenic
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 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 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 2570766	NM_001193424.2(SUV39H2):c.850-333G>C	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)	Severe combined immunodeficiency due to DCLRE1C deficiency +2 more	GBenign
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_001193424.2(SUV39H2):c.850-256G>A	DCLRE1C, SUV39H2	Single nucleotide variant (synonymous variant +2 more)	DCLRE1C-related disorder	GLikely benign
Select item 711031	NM_001193424.2(SUV39H2):c.850-6G>C	DCLRE1C, SUV39H2	Single nucleotide variant (intron 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 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 878029	NM_001033855.3(DCLRE1C):c.*1535A>G	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 878030	NM_001033855.3(DCLRE1C):c.*1525A>T	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299265	NM_001033855.3(DCLRE1C):c.*1487G>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 878031	NM_001033855.3(DCLRE1C):c.*1452G>A	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299266	NM_001033855.3(DCLRE1C):c.*1408G>A	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299267	NM_001033855.3(DCLRE1C):c.*1407C>T	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299268	NM_001033855.3(DCLRE1C):c.*1394C>T	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299270	NM_001033855.3(DCLRE1C):c.*1390T>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GBenign
Select item 299269	NM_001033855.3(DCLRE1C):c.*1390T>G	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299271	NM_001033855.3(DCLRE1C):c.*1339G>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GBenign
Select item 879495	NM_001033855.3(DCLRE1C):c.*1287T>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GBenign
Select item 299272	NM_001033855.3(DCLRE1C):c.*1280C>T	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299273	NM_001033855.3(DCLRE1C):c.*1276C>G	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299274	NM_001033855.3(DCLRE1C):c.*1236A>G	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299275	NM_001033855.3(DCLRE1C):c.*1216G>A	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299276	NM_001033855.3(DCLRE1C):c.*1215C>T	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299277	NM_001033855.3(DCLRE1C):c.*1186T>G	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299278	NM_001033855.3(DCLRE1C):c.*1174G>A	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 879854	NM_001033855.3(DCLRE1C):c.*1125T>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GBenign
Select item 879855	NM_001033855.3(DCLRE1C):c.*1108G>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 879856	NM_001033855.3(DCLRE1C):c.*1064A>G	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299279	NM_001033855.3(DCLRE1C):c.*1060G>A	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 877916	NM_001033855.3(DCLRE1C):c.*1044A>G	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299280	NM_001033855.3(DCLRE1C):c.*975G>A	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GBenign
Select item 299281	NM_001033855.3(DCLRE1C):c.*949G>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299282	NM_001033855.3(DCLRE1C):c.916_921del	DCLRE1C	Deletion (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299283	NM_001033855.3(DCLRE1C):c.*915G>A	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299285	NM_001033855.3(DCLRE1C):c.*878C>G	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299284	NM_001033855.3(DCLRE1C):c.*878C>T	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GLikely benign
Select item 299286	NM_001033855.3(DCLRE1C):c.*848A>G	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GBenign
Select item 299287	NM_001033855.3(DCLRE1C):c.*792A>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GBenign
Select item 299288	NM_001033855.3(DCLRE1C):c.770_773dup	DCLRE1C	Duplication (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 878081	NM_001033855.3(DCLRE1C):c.*772A>G	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 878082	NM_001033855.3(DCLRE1C):c.*768G>T	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299289	NM_001033855.3(DCLRE1C):c.*759T>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299290	NM_001033855.3(DCLRE1C):c.*752T>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GBenign
Select item 299291	NM_001033855.3(DCLRE1C):c.*719dup	DCLRE1C	Duplication (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GLikely benign
Select item 299292	NM_001033855.3(DCLRE1C):c.*616T>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299293	NM_001033855.3(DCLRE1C):c.*560dup	DCLRE1C	Duplication (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299294	NM_001033855.3(DCLRE1C):c.*555A>G	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 878083	NM_001033855.3(DCLRE1C):c.*551G>A	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299296	NM_001033855.3(DCLRE1C):c.*550dup	DCLRE1C	Duplication (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 879539	NM_001033855.3(DCLRE1C):c.*550A>G	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299295	NM_001033855.3(DCLRE1C):c.*550del	DCLRE1C	Deletion (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GBenign
Select item 299297	NM_001033855.3(DCLRE1C):c.*540A>G	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299298	NM_001033855.3(DCLRE1C):c.*530A>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299299	NM_001033855.3(DCLRE1C):c.*529del	DCLRE1C	Deletion (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 879540	NM_001033855.3(DCLRE1C):c.*506G>A	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 879541	NM_001033855.3(DCLRE1C):c.*490T>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299300	NM_001033855.3(DCLRE1C):c.*482T>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299301	NM_001033855.3(DCLRE1C):c.*429C>T	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299302	NM_001033855.3(DCLRE1C):c.*391C>T	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299303	NM_001033855.3(DCLRE1C):c.*314G>A	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299304	NM_001033855.3(DCLRE1C):c.*306G>A	DCLRE1C	Single nucleotide variant (intron variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299305	NM_001033855.3(DCLRE1C):c.241_242del	DCLRE1C	Deletion (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299306	NM_001033855.3(DCLRE1C):c.*238A>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299307	NM_001033855.3(DCLRE1C):c.*220del	DCLRE1C	Deletion (intron variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 879902	NM_001033855.3(DCLRE1C):c.*179G>A	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299308	NM_001033855.3(DCLRE1C):c.*154G>T	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 879903	NM_001033855.3(DCLRE1C):c.*74G>A	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 299309	NM_001033855.3(DCLRE1C):c.*12G>A	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GLikely benign
Select item 299310	NM_001033855.3(DCLRE1C):c.*11C>T	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 384912	NM_001033855.3(DCLRE1C):c.*4T>C	DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3080552	NM_001033855.3(DCLRE1C):c.2065C>G (p.Leu689Val)	DCLRE1C (L574V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2197503	NM_001033855.3(DCLRE1C):c.2050_2053del (p.Lys684fs)	DCLRE1C (K564fs +2 more)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
Select item 941736	NM_001033855.3(DCLRE1C):c.2053del (p.Arg685fs)	DCLRE1C (R565fs +2 more)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 1934271	NM_001033855.3(DCLRE1C):c.2050A>T (p.Lys684Ter)	DCLRE1C (K569* +2 more)	Single nucleotide variant (nonsense +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 1492835	NM_001033855.3(DCLRE1C):c.2047A>C (p.Lys683Gln)	DCLRE1C (K683Q +2 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 1147099	NM_001033855.3(DCLRE1C):c.2046C>T (p.Val682=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 567609	NM_001033855.3(DCLRE1C):c.2045T>A (p.Val682Asp)	DCLRE1C (V682D +2 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
Select item 1046481	NM_001033855.3(DCLRE1C):c.2042C>T (p.Ala681Val)	DCLRE1C (A561V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 1369010	NM_001033855.3(DCLRE1C):c.2041G>C (p.Ala681Pro)	DCLRE1C (A566P +2 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
Select item 1115932	NM_001033855.3(DCLRE1C):c.2040A>T (p.Ile680=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 579838	NM_001033855.3(DCLRE1C):c.2039T>C (p.Ile680Thr)	DCLRE1C (I680T +2 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 1361470	NM_001033855.3(DCLRE1C):c.2038A>T (p.Ile680Leu)	DCLRE1C (I560L +2 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 1907271	NM_001033855.3(DCLRE1C):c.2032G>A (p.Glu678Lys)	DCLRE1C (E563K +2 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 1091869	NM_001033855.3(DCLRE1C):c.2031T>G (p.Gly677=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 581143	NM_001033855.3(DCLRE1C):c.2029G>A (p.Gly677Ser)	DCLRE1C (G677S +2 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 2775836	NM_001033855.3(DCLRE1C):c.2028T>C (p.Thr676=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 1547353	NM_001033855.3(DCLRE1C):c.2028T>G (p.Thr676=)	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 2093171	NM_001033855.3(DCLRE1C):c.2019G>A (p.Lys673=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign

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