NBL1[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	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 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 59922	GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1	AKR7A2, AKR7A3 +57 more	Copy number loss	See cases	GPathogenic
Select item 152815	GRCh38/hg38 1p36.13(chr1:19169253-19797307)x3	AKR7A2, AKR7A3 +39 more	Copy number gain	See cases	GLikely benign
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 2359745	NM_182744.4(NBL1):c.55C>T (p.Pro19Ser)	MICOS10-NBL1, NBL1 (P19S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3126301	NM_005380.8(NBL1):c.185A>G (p.Gln62Arg)	MICOS10-NBL1, NBL1 (Q62R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126302	NM_005380.8(NBL1):c.299C>T (p.Pro100Leu)	MICOS10-NBL1, NBL1 (P100L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126303	NM_005380.8(NBL1):c.317C>A (p.Pro106His)	MICOS10-NBL1, NBL1 (P106H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126304	NM_005380.8(NBL1):c.364G>A (p.Ala122Thr)	MICOS10-NBL1, NBL1 (A122T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126305	NM_005380.8(NBL1):c.365C>A (p.Ala122Asp)	MICOS10-NBL1, NBL1 (A136D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126306	NM_005380.8(NBL1):c.390G>C (p.Glu130Asp)	MICOS10-NBL1, NBL1 (E164D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126307	NM_005380.8(NBL1):c.400G>C (p.Val134Leu)	MICOS10-NBL1, NBL1 (V169L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126308	NM_005380.8(NBL1):c.407T>C (p.Val136Ala)	MICOS10-NBL1, NBL1 (V150A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126309	NM_005380.8(NBL1):c.439G>A (p.Gly147Ser)	MICOS10-NBL1, NBL1 (G147S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126310	NM_005380.8(NBL1):c.478G>A (p.Gly160Arg)	MICOS10-NBL1, NBL1 (G174R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126311	NM_005380.8(NBL1):c.487C>T (p.Pro163Ser)	MICOS10-NBL1, NBL1 (P177S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2685797	GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3	ACTL8, AKR7A2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	VWA5B1, WNT4 +49 more	Duplication	Autosomal recessive early-onset Parkinson disease 6 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 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 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 980390	GRCh37/hg19 1p36.13(chr1:19809464-20123500)x3	TMCO4, CAPZB +4 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 253734	GRCh37/hg19 1p36.13-36.12(chr1:19809419-20418333)x3	TMCO4, HTR6 +9 more	Copy number gain	See cases	GUncertain significance
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 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: 36