NEGR1[gene] and "single gene"[properties] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150248	GRCh38/hg38 1p31.1(chr1:71311709-71580705)x1	NEGR1	Copy number loss	See cases	GUncertain significance
Select item 2600082	NM_173808.3(NEGR1):c.1049A>C (p.Asn350Thr)	NEGR1 (N350T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775561	NM_173808.3(NEGR1):c.975C>T (p.Ser325=)	NEGR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724718	NM_173808.3(NEGR1):c.830G>A (p.Ser277Asn)	NEGR1 (S277N)	Single nucleotide variant (missense variant)	NEGR1-related disorder +1 more	GLikely benign
Select item 2304216	NM_173808.3(NEGR1):c.740G>C (p.Gly247Ala)	NEGR1 (G247A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191336	NM_173808.3(NEGR1):c.707C>T (p.Thr236Ile)	NEGR1 (T236I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767678	NM_173808.3(NEGR1):c.702C>A (p.Thr234=)	NEGR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2210119	NM_173808.3(NEGR1):c.698G>T (p.Gly233Val)	NEGR1 (G233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147262	GRCh38/hg38 1p31.1(chr1:71658412-71776282)x1	NEGR1	Copy number loss	See cases	GBenign
Select item 2638876	NM_173808.3(NEGR1):c.597G>A (p.Gly199=)	NEGR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258494	NM_173808.3(NEGR1):c.506C>G (p.Ser169Cys)	NEGR1 (S169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191327	NM_173808.3(NEGR1):c.293A>G (p.Lys98Arg)	NEGR1 (K98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191326	NM_173808.3(NEGR1):c.232A>C (p.Ile78Leu)	NEGR1 (I78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152669	GRCh38/hg38 1p31.1(chr1:72121981-72201813)x1	NEGR1	Copy number loss	See cases	GLikely benign
Select item 2206844	NM_173808.3(NEGR1):c.167C>T (p.Ala56Val)	NEGR1 (A56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713750	NM_173808.3(NEGR1):c.94C>G (p.Leu32Val)	NEGR1 (L32V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 762498	NM_173808.3(NEGR1):c.60G>T (p.Val20=)	NEGR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1298473	GRCh37/hg19 1p31.1(chr1:72400762-72400994)x1	NEGR1	Copy number loss	not provided	GLikely pathogenic
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

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Items: 31