HP1BP3[gene] - ClinVar

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Items: 32

	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 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
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 59925	GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1	CAMK2N1, CDA +28 more	Copy number loss	See cases	GPathogenic
Select item 2492053	NM_001372052.1(HP1BP3):c.1624A>C (p.Lys542Gln)	HP1BP3 (K542Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 711751	NM_001372052.1(HP1BP3):c.1593A>G (p.Ala531=)	HP1BP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2216773	NM_001372052.1(HP1BP3):c.1408G>A (p.Ala470Thr)	HP1BP3 (A469T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2274966	NM_001372052.1(HP1BP3):c.1403A>G (p.Lys468Arg)	HP1BP3 (K467R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255765	NM_001372052.1(HP1BP3):c.1397C>T (p.Pro466Leu)	HP1BP3 (P428L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607162	NM_001372052.1(HP1BP3):c.1331A>G (p.Glu444Gly)	HP1BP3 (E406G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328989	NM_001372052.1(HP1BP3):c.1024A>C (p.Met342Leu)	HP1BP3 (M342L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339311	NM_001372052.1(HP1BP3):c.1004C>T (p.Pro335Leu)	HP1BP3 (P334L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239283	NM_001372052.1(HP1BP3):c.937C>G (p.Gln313Glu)	HP1BP3 (Q313E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301119	NM_001372052.1(HP1BP3):c.910G>A (p.Ala304Thr)	HP1BP3 (A304T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283754	NM_001372052.1(HP1BP3):c.265A>G (p.Thr89Ala)	HP1BP3 (T89A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388126	NM_001372052.1(HP1BP3):c.262G>C (p.Ala88Pro)	HP1BP3 (A88P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522849	NM_001372052.1(HP1BP3):c.113C>T (p.Thr38Ile)	HP1BP3 (T37I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2466982	NM_001372052.1(HP1BP3):c.79G>A (p.Ala27Thr)	HP1BP3 (A27T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2479582	NM_001372052.1(HP1BP3):c.56T>C (p.Ile19Thr)	HP1BP3 (I19T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2685366	GRCh37/hg19 1p36.12(chr1:21019147-21114016)x1	HP1BP3, KIF17 +1 more	Copy number loss	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 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	KIF17, LDLRAD2 +49 more	Duplication	Congenital disorder of glycosylation type Ir +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 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 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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	C1orf159, C1orf167 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 32