ClinVar for Gene (Select 79723) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3323700	NM_001193424.2(SUV39H2):c.61G>C (p.Asp21His)	SUV39H2 (D21H)	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 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 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 2613711	NM_001193424.2(SUV39H2):c.489G>T (p.Glu163Asp)	SUV39H2 (E163D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 2488990	NM_001193424.2(SUV39H2):c.43C>A (p.Pro15Thr)	SUV39H2 (P15T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2332837	NM_001193424.2(SUV39H2):c.614A>C (p.Glu205Ala)	SUV39H2 (E145A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246667	NM_001193424.2(SUV39H2):c.526A>C (p.Lys176Gln)	SUV39H2 (K116Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1694558	NM_001193424.2(SUV39H2):c.850-352G>A	SUV39H2, DCLRE1C	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
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 1177501	GRCh37/hg19 10p13(chr10:14945105-14954010)x3	DCLRE1C, SUV39H2	Copy number gain	Histiocytic medullary reticulosis +1 more	Gnot provided
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 831364	NC_000010.11:g.(?_14903611)_(14955432_?)dup	SUV39H2, DCLRE1C	Duplication	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance
Select item 815319	GRCh37/hg19 10p13(chr10:14415692-14965689)x3	SUV39H2, HSPA14 +3 more	Copy number gain	not provided	GUncertain significance
Select item 711031	NM_001193424.2(SUV39H2):c.850-6G>C	DCLRE1C, SUV39H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
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 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
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 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 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 39