ClinVar for Gene (Select 6643) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2593583	NM_003100.4(SNX2):c.422A>T (p.Asp141Val)	SNX2 (D24V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546395	NM_003100.4(SNX2):c.1160A>G (p.Tyr387Cys)	SNX2 (Y270C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528781	NM_003100.4(SNX2):c.14G>A (p.Arg5Lys)	SNX2 (R5K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526942	NM_003100.4(SNX2):c.64G>A (p.Glu22Lys)	SNX2 (E22K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519308	NM_003100.4(SNX2):c.37G>A (p.Gly13Arg)	SNX2 (G13R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510415	NM_003100.4(SNX2):c.16G>A (p.Glu6Lys)	SNX2 (E6K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480119	NM_003100.4(SNX2):c.265G>A (p.Glu89Lys)	SNX2 (E89K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401176	NM_003100.4(SNX2):c.1465G>A (p.Val489Ile)	SNX2 (V489I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370784	NM_003100.4(SNX2):c.32G>T (p.Gly11Val)	SNX2 (G11V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326504	NM_003100.4(SNX2):c.1068T>A (p.Asp356Glu)	SNX2 (D239E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298236	NM_003100.4(SNX2):c.535T>A (p.Ser179Thr)	SNX2 (S179T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233120	NM_003100.4(SNX2):c.1552A>G (p.Ile518Val)	SNX2 (I401V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1240005	dup(5)(q23.2q23.2)	LINC02201, LOC101927357 +6 more	Duplication	Lower urinary tract obstruction, congenital	GUncertain significance
Select item 814742	GRCh37/hg19 5q23.2(chr5:122143334-123430731)x3	CEP120, CSNK1G3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685497	GRCh37/hg19 5q23.1-23.2(chr5:120785278-122419820)x1	FTMT, LOX +6 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563103	GRCh37/hg19 5q23.2(chr5:122050926-122346676)x1	SNX24, SNX2	Copy number loss	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 443241	GRCh37/hg19 5q23.1-23.2(chr5:121108870-122778090)x4	CEP120, FTMT +8 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441762	GRCh37/hg19 5q23.1-23.2(chr5:120032407-123896355)x1	CEP120, CSNK1G3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	AP3S1, APC +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 221446	GRCh37/hg19 5q23.2(chr5:121409786-122337117)x3	ZNF474, LOX +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	ADAMTS19, ADAMTS19-AS1 +688 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	AP3S1, APC +340 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	ADAMTS19, ADAMTS19-AS1 +377 more	Copy number loss	See cases	GPathogenic
Select item 147446	GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1	ALDH7A1, CEP120 +86 more	Copy number loss	See cases	GUncertain significance
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59449	GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3	DMXL1, DMXL1-DT +84 more	Copy number gain	See cases	GUncertain significance
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 57490	GRCh38/hg38 5q23.1-23.2(chr5:120695675-124525372)x1	CEP120, CSNK1G3 +55 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 43