CYP4B1[gene] - ClinVar

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

Search results

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 727574	NM_001099772.2(CYP4B1):c.13T>A (p.Phe5Ile)	CYP4B1 (F5I)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2265479	NM_001099772.2(CYP4B1):c.43C>A (p.Leu15Met)	CYP4B1 (L15M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2304009	NM_001099772.2(CYP4B1):c.127A>C (p.Met43Leu)	CYP4B1 (M43L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 774394	NM_001099772.2(CYP4B1):c.147T>C (p.Pro49=)	CYP4B1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 2605082	NM_001099772.2(CYP4B1):c.203A>G (p.Asp68Gly)	CYP4B1 (D68G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2623422	NM_001099772.2(CYP4B1):c.254T>C (p.Phe85Ser)	CYP4B1 (F85S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2459849	NM_001099772.2(CYP4B1):c.256G>A (p.Gly86Arg)	CYP4B1 (G86R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2360491	NM_001099772.2(CYP4B1):c.316C>T (p.Arg106Cys)	CYP4B1 (R106C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 775549	NM_001099772.2(CYP4B1):c.330G>A (p.Lys110=)	CYP4B1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2516032	NM_001099772.2(CYP4B1):c.484C>T (p.Arg162Cys)	CYP4B1 (R147C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2395708	NM_001099772.2(CYP4B1):c.506A>G (p.Glu169Gly)	CYP4B1 (E154G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 733540	NM_001099772.2(CYP4B1):c.739T>C (p.Phe247Leu)	CYP4B1 (F232L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 782376	NM_001099772.2(CYP4B1):c.793C>T (p.Arg265Trp)	CYP4B1 (R102W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 740563	NM_001099772.2(CYP4B1):c.804C>G (p.Ala268=)	CYP4B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2376551	NM_001099772.2(CYP4B1):c.841C>T (p.Arg281Trp)	CYP4B1 (R117W +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393369	NM_001099772.2(CYP4B1):c.842G>A (p.Arg281Gln)	CYP4B1 (R118Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387823	NM_001099772.2(CYP4B1):c.845G>C (p.Arg282Thr)	CYP4B1 (R281T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 787695	NM_001099772.2(CYP4B1):c.849C>T (p.His283=)	CYP4B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 402584	NM_001099772.2(CYP4B1):c.884_885del (p.Asp295fs)	CYP4B1 (D280fs +4 more)	Deletion (frameshift variant +1 more)	not specified	GBenign
Select item 791792	NM_001099772.2(CYP4B1):c.989A>C (p.Tyr330Ser)	CYP4B1 (Y167S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2271682	NM_001099772.2(CYP4B1):c.1018C>G (p.His340Asp)	CYP4B1 (H339D +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360786	NM_001099772.2(CYP4B1):c.1039C>T (p.Arg347Cys)	CYP4B1 (R184C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597794	NM_001099772.2(CYP4B1):c.1040G>A (p.Arg347His)	CYP4B1 (R183H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569000	NM_001099772.2(CYP4B1):c.1054G>A (p.Asp352Asn)	CYP4B1 (D188N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482166	NM_001099772.2(CYP4B1):c.1057C>A (p.Gln353Lys)	CYP4B1 (Q190K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 791793	NM_001099772.2(CYP4B1):c.1064T>G (p.Phe355Cys)	CYP4B1 (F192C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 711830	NM_001099772.2(CYP4B1):c.1109G>C (p.Cys370Ser)	CYP4B1 (C207S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 725661	NM_001099772.2(CYP4B1):c.1208-10C>T	CYP4B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2482330	NM_001099772.2(CYP4B1):c.1300G>A (p.Glu434Lys)	CYP4B1 (E270K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531290	NM_001099772.2(CYP4B1):c.1333A>G (p.Met445Val)	CYP4B1 (M282V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460982	NM_001099772.2(CYP4B1):c.1348G>A (p.Gly450Arg)	CYP4B1 (G286R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210614	NM_001099772.2(CYP4B1):c.1361G>A (p.Cys454Tyr)	CYP4B1 (C290Y +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622309	NM_001099772.2(CYP4B1):c.1364T>G (p.Ile455Ser)	CYP4B1 (I291S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 780768	NM_001099772.2(CYP4B1):c.1448G>A (p.Arg483Gln)	CYP4B1 (R483Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2510226	NM_001099772.2(CYP4B1):c.1481G>A (p.Arg494His)	CYP4B1 (R331H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1693613	NM_001099772.2(CYP4B1):c.*437T>C	CYP4B1	Single nucleotide variant (3 prime UTR variant +1 more)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	AGBL4, BEND5 +28 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 395564	GRCh37/hg19 1p34.1-33(chr1:46747177-47280720)x3	ATPAF1, CYP4B1 +10 more	Copy number gain	See cases	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: 44