CAPZB[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	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 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 152221	GRCh38/hg38 1p36.13(chr1:19169253-19415934)x1	AKR7A2, AKR7A3 +18 more	Copy number loss	See cases	GUncertain significance
Select item 3137272	NM_004930.5(CAPZB):c.731+1568G>A	CAPZB (R269H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137271	NM_004930.5(CAPZB):c.731+1520A>G	CAPZB (Q253R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596491	NM_004930.5(CAPZB):c.731+1496C>G	CAPZB (S245C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638431	NM_004930.5(CAPZB):c.492C>T (p.Thr164=)	CAPZB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3137270	NM_004930.5(CAPZB):c.491C>T (p.Thr164Ile)	CAPZB (T190I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542409	NM_004930.5(CAPZB):c.460G>A (p.Val154Ile)	CAPZB, LOC132088603 (V180I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335101	NM_004930.5(CAPZB):c.320A>G (p.Tyr107Cys)	CAPZB (Y133C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638432	NM_004930.5(CAPZB):c.93+4C>T	CAPZB	Single nucleotide variant (intron variant)	not provided	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 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	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +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	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33