ClinVar for Gene (Select 644890) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2604968	NM_001080836.3(MEIG1):c.29C>T (p.Ser10Leu)	MEIG1 (S10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602976	NM_001080836.3(MEIG1):c.145C>T (p.Arg49Cys)	MEIG1 (R49C)	Single nucleotide variant (missense variant)	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 2484664	NM_001080836.3(MEIG1):c.97C>T (p.Arg33Trp)	MEIG1 (R33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348841	NM_001080836.3(MEIG1):c.8G>A (p.Ser3Asn)	MEIG1 (S3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287002	NM_001080836.3(MEIG1):c.44A>G (p.Lys15Arg)	MEIG1 (K15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242762	NM_001080836.3(MEIG1):c.45A>C (p.Lys15Asn)	MEIG1 (K15N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225559	NM_001080836.3(MEIG1):c.35G>A (p.Ser12Asn)	MEIG1 (S12N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223282	NM_001080836.3(MEIG1):c.124A>C (p.Lys42Gln)	MEIG1 (K42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214807	NM_001080836.3(MEIG1):c.109G>A (p.Glu37Lys)	MEIG1 (E37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1713266	NC_000010.10:g.14983601_15065700del	DCLRE1C, MEIG1	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 1708489	Single allele	DCLRE1C, MEIG1	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 1703605	GRCh37/hg19 10p13(chr10:14983910-15065646)	DCLRE1C, MEIG1	Copy number loss	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
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 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 688953	GRCh37/hg19 10p13(chr10:14978967-15065646)x1	DCLRE1C, MEIG1	Copy number loss	not provided	GUncertain significance
Select item 688512	GRCh37/hg19 10p13(chr10:14988328-15036201)x1	DCLRE1C, MEIG1	Copy number loss	not provided	GUncertain significance
Select item 688258	GRCh37/hg19 10p13(chr10:14978772-15061051)x1	DCLRE1C, MEIG1	Copy number loss	not provided	GUncertain significance
Select item 687809	GRCh37/hg19 10p13(chr10:14983940-15061051)x1	DCLRE1C, MEIG1	Copy number loss	not provided	GUncertain significance
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 687297	GRCh37/hg19 10p13(chr10:14983158-15061051)x1	DCLRE1C, MEIG1	Copy number loss	not provided	GUncertain significance
Select item 684967	GRCh37/hg19 10p13(chr10:14983940-15061051)x1	DCLRE1C, MEIG1	Copy number loss	not provided	GUncertain significance
Select item 647472	NC_000010.11:g.(?_14945095)_(14954442_?)del	DCLRE1C, LOC130003418 +1 more	Deletion	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563699	GRCh37/hg19 10p13(chr10:14983690-15066222)x1	MEIG1, DCLRE1C	Copy number loss	not provided	GUncertain significance
Select item 443452	GRCh37/hg19 10p13(chr10:14978929-15065646)x4	DCLRE1C, MEIG1	Copy number gain	See cases	GLikely benign
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 394533	GRCh37/hg19 10p13(chr10:14991045-15014753)x3	DCLRE1C, MEIG1	Copy number gain	See cases	GBenign/Likely benign
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: 42