ClinVar for Gene (Select 2745) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 37

	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 2685164	GRCh37/hg19 5q15(chr5:95019029-95937906)x1	ELL2, GLRX +2 more	Copy number loss	not provided	GUncertain significance
Select item 2559487	NM_001118890.2(GLRX):c.199G>A (p.Ala67Thr)	GLRX (A67T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425958	NC_000005.9:g.(?_94800311)_(96107383_?)del	ARSK, CAST +9 more	Deletion	not provided	GPathogenic
Select item 2409175	NM_001118890.2(GLRX):c.142A>G (p.Ile48Val)	GLRX (I48V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365510	NM_001118890.2(GLRX):c.109C>A (p.Pro37Thr)	GLRX (P37T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313856	NM_001118890.2(GLRX):c.292C>T (p.Arg98Trp)	GLRX (R98W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274449	NM_001118890.2(GLRX):c.188A>T (p.Gln63Leu)	GLRX (Q63L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814713	GRCh37/hg19 5q15(chr5:94715085-95251238)x3	SPATA9, ARSK +7 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
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 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563093	GRCh37/hg19 5q15(chr5:94881523-95294150)x3	SPATA9, GLRX +6 more	Copy number gain	not provided	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 443331	GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1	CAST, CHD1 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443035	GRCh37/hg19 5q15(chr5:95028385-95581195)x3	ELL2, GLRX +1 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 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 253708	GRCh37/hg19 5q15(chr5:94319893-95158593)x3	TTC37, SPATA9 +7 more	Copy number gain	See cases	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 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +342 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	EPB41L4A-AS1, EPB41L4A-DT +495 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 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +435 more	Copy number loss	See cases	GPathogenic
Select item 150147	GRCh38/hg38 5q15(chr5:94902711-95930059)x3	ARSK, ELL2 +41 more	Copy number gain	See cases	GLikely benign
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +146 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +274 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +119 more	Copy number gain	See cases	GUncertain significance
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	ADGRV1, ARB2A +276 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 37