ClinVar for Gene (Select 389941) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262382	NM_001010908.2(C1QL3):c.683A>G (p.Tyr228Cys)	C1QL3, PTER (Y228C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262381	NM_001010908.2(C1QL3):c.19A>G (p.Ile7Val)	C1QL3 (I7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262379	NM_001010908.2(C1QL3):c.340G>C (p.Gly114Arg)	C1QL3 (G114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135727	NM_001010908.2(C1QL3):c.142G>C (p.Asp48His)	C1QL3 (D48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063176	GRCh37/hg19 10p13(chr10:15634150-16873686)x3	C1QL3, CUBN +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063173	GRCh37/hg19 10p13(chr10:15595630-16873686)x3	C1QL3, CUBN +4 more	Copy number gain	not specified	GUncertain significance
Select item 2606605	NM_001010908.2(C1QL3):c.281G>A (p.Gly94Asp)	C1QL3, LOC130003439 (G94D)	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 2408711	NM_001010908.2(C1QL3):c.119C>T (p.Ala40Val)	C1QL3 (A40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293371	NM_001010908.2(C1QL3):c.280G>C (p.Gly94Arg)	C1QL3, LOC130003439 (G94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286813	NM_001010908.2(C1QL3):c.67G>A (p.Glu23Lys)	C1QL3 (E23K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247747	NM_001010908.2(C1QL3):c.529G>A (p.Val177Ile)	C1QL3 (V177I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527580	GRCh37/hg19 10p13(chr10:15631365-16749903)	C1QL3, ITGA8 +3 more	Copy number gain	not specified	GUncertain significance
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 815320	GRCh37/hg19 10p13(chr10:16402241-17145665)x3	CUBN, C1QL3 +2 more	Copy number gain	not provided	GLikely benign
Select item 780849	NM_001010908.2(C1QL3):c.456C>T (p.Leu152=)	C1QL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563761	GRCh37/hg19 10p13(chr10:15719906-16686551)x1	ITGA8, PTER +3 more	Copy number loss	not provided	GUncertain significance
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 442109	GRCh37/hg19 10p13-12.31(chr10:15966534-19063585)x1	ARL5B, C1QL3 +11 more	Copy number loss	See cases	GUncertain significance
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 146160	GRCh38/hg38 10p13(chr10:15569469-16776796)x3	C1QL3, ITGA8 +22 more	Copy number gain	See cases	GBenign
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: 33