2644[HGNC] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +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)	not specified	GUncertain significance
Select item 2304009	NM_001099772.2(CYP4B1):c.127A>C (p.Met43Leu)	CYP4B1 (M43L)	Single nucleotide variant (missense variant +2 more)	not specified	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 3270657	NM_001099772.2(CYP4B1):c.170A>G (p.His57Arg)	CYP4B1 (H57R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3270654	NM_001099772.2(CYP4B1):c.191C>T (p.Thr64Met)	CYP4B1 (T64M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605082	NM_001099772.2(CYP4B1):c.203A>G (p.Asp68Gly)	CYP4B1 (D68G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623422	NM_001099772.2(CYP4B1):c.254T>C (p.Phe85Ser)	CYP4B1 (F85S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459849	NM_001099772.2(CYP4B1):c.256G>A (p.Gly86Arg)	CYP4B1 (G86R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079674	NM_001099772.2(CYP4B1):c.287A>G (p.Glu96Gly)	CYP4B1 (E96G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360491	NM_001099772.2(CYP4B1):c.316C>T (p.Arg106Cys)	CYP4B1 (R106C)	Single nucleotide variant (missense variant +2 more)	not specified	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 3079675	NM_001099772.2(CYP4B1):c.341T>C (p.Val114Ala)	CYP4B1 (V114A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079676	NM_001099772.2(CYP4B1):c.413G>A (p.Arg138His)	CYP4B1 (R138H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079678	NM_001099772.2(CYP4B1):c.458A>T (p.Tyr153Phe)	CYP4B1 (Y153F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516032	NM_001099772.2(CYP4B1):c.484C>T (p.Arg162Cys)	CYP4B1 (R147C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 3079679	NM_001099772.2(CYP4B1):c.530C>A (p.Ser177Tyr)	CYP4B1 (S177Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079680	NM_001099772.2(CYP4B1):c.733C>T (p.Arg245Cys)	CYP4B1 (R230C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079681	NM_001099772.2(CYP4B1):c.734G>A (p.Arg245His)	CYP4B1 (R244H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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 3270656	NM_001099772.2(CYP4B1):c.971G>T (p.Gly324Val)	CYP4B1 (G160V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 3270653	NM_001099772.2(CYP4B1):c.1036G>A (p.Val346Ile)	CYP4B1 (V182I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2360786	NM_001099772.2(CYP4B1):c.1039C>T (p.Arg347Cys)	CYP4B1 (R184C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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 3079670	NM_001099772.2(CYP4B1):c.1201C>G (p.Pro401Ala)	CYP4B1 (P237A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725661	NM_001099772.2(CYP4B1):c.1208-10C>T	CYP4B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3079671	NM_001099772.2(CYP4B1):c.1253C>A (p.Ala418Asp)	CYP4B1 (A255D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482330	NM_001099772.2(CYP4B1):c.1300G>A (p.Glu434Lys)	CYP4B1 (E270K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3079672	NM_001099772.2(CYP4B1):c.1420C>T (p.Arg474Cys)	CYP4B1 (R310C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270658	NM_001099772.2(CYP4B1):c.1441C>G (p.Pro481Ala)	CYP4B1 (P318A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079673	NM_001099772.2(CYP4B1):c.1441C>T (p.Pro481Ser)	CYP4B1 (P317S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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	TXNDC12, AGBL4 +28 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 395564	GRCh37/hg19 1p34.1-33(chr1:46747177-47280720)x3	ATPAF1, CYP4B1 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 60