ClinVar for Gene (Select 1579) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270649	NM_000778.4(CYP4A11):c.112T>C (p.Tyr38His)	CYP4A11 (Y38H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270648	NM_000778.4(CYP4A11):c.1358G>T (p.Gly453Val)	CYP4A11 (G355V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270647	NM_000778.4(CYP4A11):c.1230G>T (p.Met410Ile)	CYP4A11 (M312I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270646	NM_000778.4(CYP4A11):c.766T>G (p.Cys256Gly)	CYP4A11 (C224G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3270644	NM_000778.4(CYP4A11):c.109C>A (p.Leu37Ile)	CYP4A11 (L37I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270643	NM_000778.4(CYP4A11):c.924C>G (p.Asp308Glu)	CYP4A11 (D276E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3270642	NM_000778.4(CYP4A11):c.1163G>T (p.Gly388Val)	CYP4A11 (G290V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270641	NM_000778.4(CYP4A11):c.990C>G (p.Ile330Met)	CYP4A11 (I298M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3270640	NM_000778.4(CYP4A11):c.221G>A (p.Arg74Gln)	CYP4A11 (R74Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3079656	NM_000778.4(CYP4A11):c.986G>T (p.Gly329Val)	CYP4A11 (G297V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079655	NM_000778.4(CYP4A11):c.970G>A (p.Asp324Asn)	CYP4A11 (D324N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079654	NM_000778.4(CYP4A11):c.813G>C (p.Lys271Asn)	CYP4A11 (K239N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079653	NM_000778.4(CYP4A11):c.712C>G (p.Gln238Glu)	CYP4A11 (Q238E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079652	NM_000778.4(CYP4A11):c.659C>G (p.Ala220Gly)	CYP4A11 (A220G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079651	NM_000778.4(CYP4A11):c.621C>A (p.Ser207Arg)	CYP4A11 (S207R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079650	NM_000778.4(CYP4A11):c.341C>T (p.Pro114Leu)	CYP4A11 (P114L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079649	NM_000778.4(CYP4A11):c.260C>G (p.Pro87Arg)	CYP4A11 (P87R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079648	NM_000778.4(CYP4A11):c.220C>T (p.Arg74Trp)	CYP4A11 (R74W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079647	NM_000778.4(CYP4A11):c.202C>A (p.Gln68Lys)	CYP4A11 (Q68K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3079646	NM_000778.4(CYP4A11):c.1535C>G (p.Pro512Arg)	CYP4A11 (P414R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638803	NM_000778.4(CYP4A11):c.120C>T (p.His40=)	CYP4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2588486	NM_000778.4(CYP4A11):c.268C>A (p.Leu90Ile)	CYP4A11 (L90I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508647	NM_000778.4(CYP4A11):c.731G>A (p.Ser244Asn)	CYP4A11 (S244N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2412035	NM_000778.4(CYP4A11):c.430C>T (p.Arg144Trp)	CYP4A11 (R144W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399277	NM_000778.4(CYP4A11):c.1021C>A (p.Pro341Thr)	CYP4A11 (P309T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2388888	NM_000778.4(CYP4A11):c.509T>C (p.Leu170Pro)	CYP4A11 (L170P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356135	NM_000778.4(CYP4A11):c.259C>G (p.Pro87Ala)	CYP4A11 (P87A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340094	NM_000778.4(CYP4A11):c.1081A>C (p.Ile361Leu)	CYP4A11 (I361L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2310312	NM_000778.4(CYP4A11):c.1067G>A (p.Gly356Asp)	CYP4A11 (G324D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305252	NM_000778.4(CYP4A11):c.748C>T (p.Arg250Cys)	CYP4A11 (R218C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303640	NM_000778.4(CYP4A11):c.935G>A (p.Arg312His)	CYP4A11 (R280H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298218	NM_000778.4(CYP4A11):c.1474G>T (p.Ala492Ser)	CYP4A11 (A492S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295883	NM_000778.4(CYP4A11):c.122G>A (p.Arg41Lys)	CYP4A11 (R41K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278826	NM_000778.4(CYP4A11):c.1189G>T (p.Val397Phe)	CYP4A11 (V365F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243927	NM_000778.4(CYP4A11):c.1154C>T (p.Pro385Leu)	CYP4A11 (P287L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233885	NM_000778.4(CYP4A11):c.1085C>T (p.Thr362Ile)	CYP4A11 (T362I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221352	NM_000778.4(CYP4A11):c.1513C>G (p.Arg505Gly)	CYP4A11 (R407G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207096	NM_000778.4(CYP4A11):c.548T>C (p.Leu183Pro)	CYP4A11 (L183P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 774797	NM_000778.4(CYP4A11):c.1461C>T (p.Ile487=)	CYP4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 727575	NM_000778.4(CYP4A11):c.337+9G>A	CYP4A11	Single nucleotide variant (intron variant)	not provided	GBenign
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 565090	GRCh37/hg19 1p33(chr1:47344057-47421549)x1	CYP4A11	Copy number loss	not provided	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

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Links from Gene

Items: 48