Related gene-specific medical variations for Gene (Select 257194) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063432	GRCh37/hg19 1p31.1(chr1:72399667-72433308)x1	NEGR1	Copy number loss	not specified	GUncertain significance
Select item 2505107	GRCh37/hg19 1p31.1(chr1:72536773-72771521)x1	NEGR1	Copy number loss	not provided	Gnot provided
Select item 1527071	GRCh37/hg19 1p31.1(chr1:71714401-72002854)	NEGR1	Copy number loss	not specified	GUncertain significance
Select item 818085	GRCh37/hg19 1p31.1(chr1:72416199-72742099)x1	NEGR1	Copy number loss	global hypotonia	GUncertain significance
Select item 814099	GRCh37/hg19 1p31.1(chr1:72503891-72941284)x3	NEGR1	Copy number gain	not provided	GUncertain significance
Select item 814098	GRCh37/hg19 1p31.1(chr1:72440113-73862564)x1	NEGR1	Copy number loss	not provided	GUncertain significance
Select item 814096	GRCh37/hg19 1p31.1(chr1:72059655-72125401)x1	NEGR1	Copy number loss	not provided	GUncertain significance
Select item 689211	GRCh37/hg19 1p31.1(chr1:72727154-72764809)x1	NEGR1	Copy number loss	not provided	GUncertain significance
Select item 687446	GRCh37/hg19 1p31.1(chr1:72611364-72764809)x1	NEGR1	Copy number loss	not provided	GUncertain significance
Select item 687298	GRCh37/hg19 1p31.1(chr1:72053672-72093635)x3	NEGR1	Copy number gain	not provided	GUncertain significance
Select item 686508	GRCh37/hg19 1p31.1(chr1:71860977-72050718)x3	NEGR1	Copy number gain	not provided	GUncertain significance
Select item 686135	GRCh37/hg19 1p31.1(chr1:71860977-72050718)x3	NEGR1	Copy number gain	not provided	GUncertain significance
Select item 442039	GRCh37/hg19 1p31.1(chr1:72585412-73339932)x1	NEGR1	Copy number loss	See cases	GUncertain significance
Select item 152669	GRCh38/hg38 1p31.1(chr1:72121981-72201813)x1	NEGR1	Copy number loss	See cases	GLikely benign
Select item 150248	GRCh38/hg38 1p31.1(chr1:71311709-71580705)x1	NEGR1	Copy number loss	See cases	GUncertain significance
Select item 147262	GRCh38/hg38 1p31.1(chr1:71658412-71776282)x1	NEGR1	Copy number loss	See cases	GBenign