NEGR1[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 more	Copy number loss	See cases	GPathogenic
Select item 155706	GRCh38/hg38 1p31.1(chr1:70716347-71407975)x3	LINC01788, LOC129388549 +8 more	Copy number gain	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 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 3299176	NM_173808.3(NEGR1):c.887C>T (p.Thr296Ile)	NEGR1 (T296I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299178	NM_173808.3(NEGR1):c.850G>A (p.Val284Ile)	NEGR1 (V284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147884	GRCh38/hg38 1p31.1(chr1:71592911-73610754)x3	LINC01360, LINC02796 +8 more	Copy number gain	See cases	GUncertain significance
Select item 724718	NM_173808.3(NEGR1):c.830G>A (p.Ser277Asn)	NEGR1 (S277N)	Single nucleotide variant (missense variant)	not provided	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 3299174	NM_173808.3(NEGR1):c.676A>G (p.Thr226Ala)	NEGR1 (T226A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148439	GRCh38/hg38 1p31.1(chr1:71633132-72092337)x1	LOC126805757, NEGR1 +1 more	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
Select item 155663	GRCh38/hg38 1p31.1(chr1:71691191-72250907)x1	LOC126805757, NEGR1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 2638876	NM_173808.3(NEGR1):c.597G>A (p.Gly199=)	NEGR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 150504	GRCh38/hg38 1p31.1(chr1:71730378-72242270)x1	LOC126805757, NEGR1 +1 more	Copy number loss	See cases	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 3299177	NM_173808.3(NEGR1):c.374C>A (p.Thr125Lys)	NEGR1 (T125K)	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 3299175	NM_173808.3(NEGR1):c.283A>G (p.Thr95Ala)	NEGR1 (T95A)	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 3062744	GRCh37/hg19 1p31.1(chr1:72126327-73436923)x3	NEGR1, NEGR1-IT1	Copy number gain	not specified	GUncertain significance
Select item 2685444	GRCh37/hg19 1p31.1(chr1:72156875-72277592)x1	NEGR1, NEGR1-IT1	Copy number loss	not provided	GUncertain significance
Select item 2505107	GRCh37/hg19 1p31.1(chr1:72536773-72771521)x1	NEGR1	Copy number loss	not provided	Gnot provided
Select item 1809428	GRCh37/hg19 1p31.1(chr1:69989275-72180606)x1	ANKRD13C, CTH +8 more	Copy number loss	not provided	GUncertain significance
Select item 1527071	GRCh37/hg19 1p31.1(chr1:71714401-72002854)	NEGR1	Copy number loss	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1335031	GRCh37/hg19 1p31.1(chr1:72241855-72400994)x1	NEGR1, NEGR1-IT1	Copy number loss	not provided	GLikely pathogenic
Select item 1298473	GRCh37/hg19 1p31.1(chr1:72400762-72400994)x1	NEGR1	Copy number loss	not provided	GLikely pathogenic
Select item 979894	GRCh37/hg19 1p31.1(chr1:72007175-72850131)x1	NEGR1-IT1, NEGR1	Copy number loss	not provided	GLikely benign
Select item 870466	GRCh37/hg19 1p31.1(chr1:72113191-72723471)x1	NEGR1, NEGR1-IT1	Copy number loss	neurological and psychiatric features	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 814097	GRCh37/hg19 1p31.1(chr1:72228368-72394305)x1	NEGR1, NEGR1-IT1	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 814095	GRCh37/hg19 1p31.1(chr1:71419650-72398325)x1	PTGER3, NEGR1-IT1 +3 more	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 687347	GRCh37/hg19 1p31.1(chr1:71582394-71942586)x1	NEGR1, ZRANB2-DT	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 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
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 685854	GRCh37/hg19 1p31.1(chr1:71985975-72350290)x1	NEGR1, NEGR1-IT1	Copy number loss	not provided	GUncertain significance
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625763	GRCh37/hg19 1p31.1(chr1:71410579-78131158)	ACADM, AK5 +21 more	Copy number gain	not provided	GPathogenic
Select item 565111	GRCh37/hg19 1p31.1(chr1:72103442-77186974)x3	LRRIQ3, FPGT-TNNI3K +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 493562	GRCh37/hg19 1p31.1(chr1:72578280-77429541)x3	ACADM, ASB17 +14 more	Copy number gain	not provided	GUncertain significance
Select item 442728	GRCh37/hg19 1p31.1(chr1:71650258-72268332)x3	NEGR1, NEGR1-IT1 +1 more	Copy number gain	See cases	GLikely benign
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442039	GRCh37/hg19 1p31.1(chr1:72585412-73339932)x1	NEGR1	Copy number loss	See cases	GUncertain significance
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 74