CYP4A22[gene] - ClinVar

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Items: 48

	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 150531	GRCh38/hg38 1p33(chr1:46969963-47200507)x3	CYP4A22, CYP4A22-AS1 +7 more	Copy number gain	See cases	GLikely benign
Select item 3270651	NM_001010969.4(CYP4A22):c.32G>A (p.Arg11His)	CYP4A22, CYP4A22-AS1 (R11H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270652	NM_001010969.4(CYP4A22):c.49G>A (p.Gly17Arg)	CYP4A22, CYP4A22-AS1 (G17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079664	NM_001010969.4(CYP4A22):c.53T>C (p.Ile18Thr)	CYP4A22, CYP4A22-AS1 (I18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528377	NM_001010969.4(CYP4A22):c.140C>G (p.Ala47Gly)	CYP4A22, CYP4A22-AS1 (A47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593246	NM_001010969.4(CYP4A22):c.196T>C (p.Phe66Leu)	CYP4A22, CYP4A22-AS1 (F66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593247	NM_001010969.4(CYP4A22):c.204C>G (p.His68Gln)	CYP4A22, CYP4A22-AS1 (H68Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547007	NM_001010969.4(CYP4A22):c.299A>G (p.Tyr100Cys)	CYP4A22, CYP4A22-AS1 (Y100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079663	NM_001010969.4(CYP4A22):c.486G>A (p.Met162Ile)	CYP4A22, CYP4A22-AS1 (M162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510554	NM_001010969.4(CYP4A22):c.500G>A (p.Arg167Gln)	CYP4A22, CYP4A22-AS1 (R167Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272411	NM_001010969.4(CYP4A22):c.583G>A (p.Asp195Asn)	CYP4A22, CYP4A22-AS1 (D195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079665	NM_001010969.4(CYP4A22):c.600T>G (p.Ser200Arg)	CYP4A22, CYP4A22-AS1 (S200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693611	NM_001010969.4(CYP4A22):c.691T>C (p.Cys231Arg)	CYP4A22, CYP4A22-AS1 (C231R)	Single nucleotide variant (missense variant +1 more)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 2360690	NM_001010969.4(CYP4A22):c.706T>G (p.Phe236Val)	CYP4A22, CYP4A22-AS1 (F236V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079666	NM_001010969.4(CYP4A22):c.725T>A (p.Ile242Asn)	CYP4A22, CYP4A22-AS1 (I242N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568913	NM_001010969.4(CYP4A22):c.731G>A (p.Ser244Asn)	CYP4A22, CYP4A22-AS1 (S244N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607354	NM_001010969.4(CYP4A22):c.761G>A (p.Arg254His)	CYP4A22, CYP4A22-AS1 (R254H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079667	NM_001010969.4(CYP4A22):c.763G>A (p.Ala255Thr)	CYP4A22, CYP4A22-AS1 (A255T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079668	NM_001010969.4(CYP4A22):c.788C>T (p.Thr263Ile)	CYP4A22, CYP4A22-AS1 (T263I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295846	NM_001010969.4(CYP4A22):c.831G>T (p.Glu277Asp)	CYP4A22, CYP4A22-AS1 (G226W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079669	NM_001010969.4(CYP4A22):c.841G>A (p.Glu281Lys)	CYP4A22, CYP4A22-AS1 (E281K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218135	NM_001010969.4(CYP4A22):c.851A>T (p.Lys284Met)	CYP4A22, CYP4A22-AS1 (Q232H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457712	NM_001010969.4(CYP4A22):c.990C>G (p.Ile330Met)	CYP4A22, CYP4A22-AS1 (I330M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079657	NM_001010969.4(CYP4A22):c.1001T>C (p.Leu334Pro)	CYP4A22, CYP4A22-AS1 (L334P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548692	NM_001010969.4(CYP4A22):c.1028A>T (p.His343Leu)	CYP4A22, CYP4A22-AS1 (H343L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079658	NM_001010969.4(CYP4A22):c.1082T>C (p.Ile361Thr)	CYP4A22, CYP4A22-AS1 (I361T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079659	NM_001010969.4(CYP4A22):c.1134G>C (p.Glu378Asp)	CYP4A22, CYP4A22-AS1 (E378D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511919	NM_001010969.4(CYP4A22):c.1162G>A (p.Gly388Ser)	CYP4A22-AS1, CYP4A22 (G388S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312030	NM_001010969.4(CYP4A22):c.1183A>G (p.Thr395Ala)	CYP4A22, CYP4A22-AS1 (T297A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359932	NM_001010969.4(CYP4A22):c.1205G>C (p.Gly402Ala)	CYP4A22, CYP4A22-AS1 (G402A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079660	NM_001010969.4(CYP4A22):c.1263C>A (p.Asn421Lys)	CYP4A22, CYP4A22-AS1 (N323K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495071	NM_001010969.4(CYP4A22):c.1270G>T (p.Val424Leu)	CYP4A22, CYP4A22-AS1 (V326L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550668	NM_001010969.4(CYP4A22):c.1289T>G (p.Val430Gly)	CYP4A22, CYP4A22-AS1 (V332G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293440	NM_001010969.4(CYP4A22):c.1337C>T (p.Ala446Val)	CYP4A22, CYP4A22-AS1 (A348V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509966	NM_001010969.4(CYP4A22):c.1375G>A (p.Gly459Arg)	CYP4A22, CYP4A22-AS1 (G459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079661	NM_001010969.4(CYP4A22):c.1415C>G (p.Ala472Gly)	CYP4A22, CYP4A22-AS1 (A472G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528724	NM_001010969.4(CYP4A22):c.1471A>G (p.Met491Val)	CYP4A22, CYP4A22-AS1 (M491V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288512	NM_001010969.4(CYP4A22):c.1483G>C (p.Val495Leu)	CYP4A22, CYP4A22-AS1 (V495L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270650	NM_001010969.4(CYP4A22):c.1513C>T (p.Arg505Cys)	CYP4A22, CYP4A22-AS1 (R505C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079662	NM_001010969.4(CYP4A22):c.1549G>A (p.Asp517Asn)	CYP4A22, CYP4A22-AS1 (D517N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
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	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +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

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Items: 48