NBPF1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 147616	GRCh38/hg38 1p36.13(chr1:16487877-16778041)x1	FAM231AP, LINC01783 +14 more	Copy number loss	See cases	GBenign
Select item 147615	GRCh38/hg38 1p36.13(chr1:16487877-16778041)x3	FAM231AP, LINC01783 +14 more	Copy number gain	See cases	GBenign
Select item 2638361	NM_001405666.3(NBPF1):c.4950A>T (p.Ser1650=)	NBPF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218750	NM_001405666.3(NBPF1):c.3853C>T (p.Leu1285Phe)	NBPF1 (L1040F +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218749	NM_001405666.3(NBPF1):c.2666+2T>C	NBPF1	Single nucleotide variant (splice donor variant +1 more)	not specified +1 more	GUncertain significance
Select item 2638362	NM_001405666.3(NBPF1):c.2349T>C (p.Ile783=)	NBPF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218748	NM_001405666.3(NBPF1):c.1905-6C>A	NBPF1	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 3298642	NM_001405666.3(NBPF1):c.1495A>T (p.Asn499Tyr)	NBPF1 (N393Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400897	NM_001405666.3(NBPF1):c.1349C>A (p.Ala450Asp)	NBPF1 (A344D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638363	NM_001405666.3(NBPF1):c.1347G>A (p.Glu449=)	NBPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2353530	NM_001405666.3(NBPF1):c.999G>C (p.Glu333Asp)	NBPF1 (E227D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2638364	NM_001405666.3(NBPF1):c.991T>A (p.Tyr331Asn)	NBPF1 (Y225N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2326928	NM_001405666.3(NBPF1):c.763G>C (p.Val255Leu)	NBPF1 (V149L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250710	NM_001405666.3(NBPF1):c.715= (p.Ala239=)	NBPF1 (T239A)	Single nucleotide variant (no sequence alteration +2 more)	not specified	GUncertain significance
Select item 2300041	NM_001405666.3(NBPF1):c.199A>T (p.Ile67Leu)	NBPF1 (I67L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293148	NM_001405666.3(NBPF1):c.178T>G (p.Tyr60Asp)	NBPF1 (Y60D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213849	NM_001405666.3(NBPF1):c.168G>C (p.Lys56Asn)	NBPF1 (K56N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281494	NM_001405666.3(NBPF1):c.60C>G (p.Ile20Met)	NBPF1 (I20M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400612	NM_001405666.3(NBPF1):c.55G>A (p.Glu19Lys)	NBPF1 (E19K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179584	NM_001405666.3(NBPF1):c.42G>T (p.Glu14Asp)	NBPF1 (E14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212586	NM_001405666.3(NBPF1):c.23G>T (p.Trp8Leu)	NBPF1 (W8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146992	GRCh38/hg38 1p36.13(chr1:16600282-16722267)x1	FAM231AP, LOC129929532 +5 more	Copy number loss	See cases	GBenign
Select item 150893	GRCh38/hg38 1p36.13(chr1:16600450-16856300)x3	FAM231AP, LOC129929532 +8 more	Copy number gain	See cases	GLikely benign
Select item 150162	GRCh38/hg38 1p36.13(chr1:16600450-16761944)x3	FAM231AP, LOC129929532 +7 more	Copy number gain	See cases	GLikely benign
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	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 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 221373	GRCh37/hg19 1p36.13(chr1:16782351-17359598)x1	ATP13A2, CROCC +9 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221358	chr1:16902894-17264939 complex variant	CROCC, NBPF1 +3 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 44