CYP4F2[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 3031223	NM_001082.5(CYP4F2):c.*8A>G	CYP4F2	Single nucleotide variant (3 prime UTR variant)	CYP4F2-related disorder	GLikely benign
Select item 3056325	NM_001082.5(CYP4F2):c.1555C>A (p.Leu519Met)	CYP4F2 (L519M)	Single nucleotide variant (missense variant)	CYP4F2-related disorder	GLikely benign
Select item 3047382	NM_001082.5(CYP4F2):c.1543C>A (p.Arg515=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GLikely benign
Select item 2281283	NM_001082.5(CYP4F2):c.1502A>G (p.Lys501Arg)	CYP4F2 (K501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270678	NM_001082.5(CYP4F2):c.1489G>A (p.Glu497Lys)	CYP4F2 (E497K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079713	NM_001082.5(CYP4F2):c.1486A>G (p.Thr496Ala)	CYP4F2 (T496A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054703	NM_001082.5(CYP4F2):c.1470C>T (p.Arg490=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GLikely benign
Select item 3079712	NM_001082.5(CYP4F2):c.1469G>A (p.Arg490His)	CYP4F2 (R490H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031316	NM_001082.5(CYP4F2):c.1443C>T (p.Val481=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GLikely benign
Select item 2204285	NM_001082.5(CYP4F2):c.1436A>C (p.Lys479Thr)	CYP4F2 (K479T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059292	NM_001082.5(CYP4F2):c.1414A>G (p.Thr472Ala)	CYP4F2 (T472A)	Single nucleotide variant (missense variant)	CYP4F2-related disorder	GLikely benign
Select item 3038214	NM_001082.5(CYP4F2):c.1398-4C>G	CYP4F2	Single nucleotide variant (intron variant)	CYP4F2-related disorder	GBenign
Select item 2356937	NM_001082.5(CYP4F2):c.1342G>A (p.Glu448Lys)	CYP4F2 (E448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 225969	NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met)	CYP4F2 (V433M)	Single nucleotide variant (missense variant)	acenocoumarol response - Dosage +1 more	Gdrug response
Select item 634565	NM_001082.5(CYP4F2):c.1250G>T (p.Gly417Val)	CYP4F2 (G417V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049482	NM_001082.5(CYP4F2):c.1242C>T (p.Ile414=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GLikely benign
Select item 735081	NM_001082.5(CYP4F2):c.1125G>A (p.Leu375=)	CYP4F2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079710	NM_001082.5(CYP4F2):c.1116G>T (p.Trp372Cys)	CYP4F2 (W372C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771214	NM_001082.5(CYP4F2):c.1115+10G>A	CYP4F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2207488	NM_001082.5(CYP4F2):c.1093C>T (p.Arg365Cys)	CYP4F2 (R365C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052749	NM_001082.5(CYP4F2):c.1092C>T (p.Asp364=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GLikely benign
Select item 2206252	NM_001082.5(CYP4F2):c.1054G>A (p.Glu352Lys)	CYP4F2 (E352K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056285	NM_001082.5(CYP4F2):c.1029C>T (p.His343=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GBenign
Select item 771928	NM_001082.5(CYP4F2):c.1021C>G (p.Leu341Val)	CYP4F2 (L341V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2324372	NM_001082.5(CYP4F2):c.1015T>C (p.Trp339Arg)	CYP4F2 (W339R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385383	NM_001082.5(CYP4F2):c.998C>T (p.Thr333Met)	CYP4F2 (T333M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079717	NM_001082.5(CYP4F2):c.956G>T (p.Arg319Ile)	CYP4F2 (R319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479909	NM_001082.5(CYP4F2):c.946G>A (p.Glu316Lys)	CYP4F2 (E316K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270679	NM_001082.5(CYP4F2):c.927C>T (p.Asp309=)	CYP4F2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3033266	NM_001082.5(CYP4F2):c.919-9T>G	CYP4F2	Single nucleotide variant (intron variant)	CYP4F2-related disorder	GLikely benign
Select item 3270676	NM_001082.5(CYP4F2):c.868A>C (p.Lys290Gln)	CYP4F2 (K290Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714779	NM_001082.5(CYP4F2):c.831T>C (p.Thr277=)	CYP4F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3352691	NM_001082.5(CYP4F2):c.825C>T (p.Arg275=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GLikely benign
Select item 3079716	NM_001082.5(CYP4F2):c.794A>G (p.Asp265Gly)	CYP4F2 (D265G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048385	NM_001082.5(CYP4F2):c.792C>T (p.His264=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GLikely benign
Select item 2480060	NM_001082.5(CYP4F2):c.763C>T (p.Arg255Cys)	CYP4F2 (R255C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079715	NM_001082.5(CYP4F2):c.713A>G (p.Glu238Gly)	CYP4F2 (E238G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 634566	NM_001082.5(CYP4F2):c.648-7C>A	CYP4F2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 3055377	NM_001082.5(CYP4F2):c.554G>T (p.Gly185Val)	CYP4F2 (G185V)	Single nucleotide variant (missense variant)	CYP4F2-related disorder	GBenign
Select item 2483954	NM_001082.5(CYP4F2):c.520A>C (p.Met174Leu)	CYP4F2, LOC126862873 (M174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515871	NM_001082.5(CYP4F2):c.461C>T (p.Ala154Val)	CYP4F2, LOC126862873 (A154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271347	NM_001082.5(CYP4F2):c.457C>A (p.Pro153Thr)	CYP4F2, LOC126862873 (P153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079714	NM_001082.5(CYP4F2):c.445C>T (p.Arg149Trp)	CYP4F2, LOC126862873 (R149W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540443	NM_001082.5(CYP4F2):c.392G>T (p.Trp131Leu)	CYP4F2, LOC126862873 (W131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357571	NM_001082.5(CYP4F2):c.385G>A (p.Glu129Lys)	CYP4F2, LOC126862873 (E129K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515727	NM_001082.5(CYP4F2):c.360G>T (p.Lys120Asn)	CYP4F2, LOC126862873 (K120N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337286	NM_001082.5(CYP4F2):c.353C>T (p.Ala118Val)	CYP4F2, LOC126862873 (A118V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 714780	NM_001082.5(CYP4F2):c.348C>G (p.Ala116=)	CYP4F2, LOC126862873	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3040636	NM_001082.5(CYP4F2):c.343+6A>G	CYP4F2	Single nucleotide variant (intron variant)	CYP4F2-related disorder	GLikely benign
Select item 3055271	NM_001082.5(CYP4F2):c.336C>T (p.Asn112=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GBenign
Select item 2371357	NM_001082.5(CYP4F2):c.313G>T (p.Asp105Tyr)	CYP4F2 (D105Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055346	NM_001082.5(CYP4F2):c.279A>C (p.Gly93=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GBenign
Select item 3270677	NM_001082.5(CYP4F2):c.274A>G (p.Met92Val)	CYP4F2 (M92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344259	NM_001082.5(CYP4F2):c.265A>G (p.Lys89Glu)	CYP4F2 (K89E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060160	NM_001082.5(CYP4F2):c.246C>T (p.Ala82=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GBenign
Select item 3044148	NM_001082.5(CYP4F2):c.240G>T (p.Leu80=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GLikely benign
Select item 2606567	NM_001082.5(CYP4F2):c.170G>A (p.Arg57Gln)	CYP4F2 (R57Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060298	NM_001082.5(CYP4F2):c.165A>G (p.Pro55=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GBenign
Select item 3079711	NM_001082.5(CYP4F2):c.136C>T (p.Arg46Cys)	CYP4F2 (R46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044144	NM_001082.5(CYP4F2):c.99T>C (p.His33=)	CYP4F2	Single nucleotide variant (synonymous variant)	CYP4F2-related disorder	GLikely benign
Select item 2541473	NM_001082.5(CYP4F2):c.70C>A (p.Leu24Met)	CYP4F2 (L24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052405	NM_001082.5(CYP4F2):c.46G>C (p.Ala16Pro)	CYP4F2 (A16P)	Single nucleotide variant (missense variant)	CYP4F2-related disorder	GBenign
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816069	GRCh37/hg19 19p13.12(chr19:15759349-16018426)x1	OR10H1, CYP4F2 +6 more	Copy number loss	not provided	GLikely benign
Select item 688090	GRCh37/hg19 19p13.12-13.11(chr19:15623742-16301544)x1	CIB3, CYP4F11 +15 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic

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Items: 79