CYP4F3[gene] - ClinVar

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Items: 68

	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 151477	GRCh38/hg38 19p13.12(chr19:15631691-15713236)x3	CYP4F12, CYP4F3	Copy number gain	See cases	GLikely benign
Select item 151475	GRCh38/hg38 19p13.12(chr19:15631691-15655699)x3	CYP4F3	Copy number gain	See cases	GLikely benign
Select item 145852	GRCh38/hg38 19p13.12(chr19:15631691-15692480)x3	CYP4F12, CYP4F3	Copy number gain	See cases	GLikely benign
Select item 2355370	NM_000896.3(CYP4F3):c.23C>T (p.Ser8Leu)	CYP4F3 (S8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1176067	NM_000896.3(CYP4F3):c.140G>T (p.Arg47Leu)	CYP4F3 (R47L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727449	NM_000896.3(CYP4F3):c.140G>A (p.Arg47His)	CYP4F3 (R47H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2595943	NM_000896.3(CYP4F3):c.155C>T (p.Pro52Leu)	CYP4F3 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481479	NM_000896.3(CYP4F3):c.164C>G (p.Pro55Arg)	CYP4F3 (P55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272888	NM_000896.3(CYP4F3):c.188A>T (p.His63Leu)	CYP4F3 (H63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079729	NM_000896.3(CYP4F3):c.199-1760A>T	CYP4F3 (Y84F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525037	NM_000896.3(CYP4F3):c.199-1712G>A	CYP4F3 (R100H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079730	NM_000896.3(CYP4F3):c.199-1695A>C	CYP4F3 (I106L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2467506	NM_000896.3(CYP4F3):c.199-1695A>T	CYP4F3 (I106F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1176068	NM_000896.3(CYP4F3):c.248C>T (p.Thr83Ile)	CYP4F3 (T83I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3079731	NM_000896.3(CYP4F3):c.400G>A (p.Asp134Asn)	CYP4F3 (D134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531625	NM_000896.3(CYP4F3):c.454A>C (p.Thr152Pro)	CYP4F3 (T152P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742334	NM_000896.3(CYP4F3):c.519C>A (p.Ile173=)	CYP4F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777900	NM_000896.3(CYP4F3):c.571A>G (p.Met191Val)	CYP4F3 (M191V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2305594	NM_000896.3(CYP4F3):c.687T>G (p.Ser229Arg)	CYP4F3 (S229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079732	NM_000896.3(CYP4F3):c.740A>G (p.Tyr247Cys)	CYP4F3 (Y247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544902	NM_000896.3(CYP4F3):c.795C>A (p.Asp265Glu)	CYP4F3 (D265E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777722	NM_000896.3(CYP4F3):c.808G>A (p.Val270Ile)	CYP4F3 (V270I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 773774	NM_000896.3(CYP4F3):c.812T>C (p.Ile271Thr)	CYP4F3 (I271T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2356312	NM_000896.3(CYP4F3):c.820C>T (p.Arg274Trp)	CYP4F3 (R274W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079733	NM_000896.3(CYP4F3):c.823C>T (p.Arg275Cys)	CYP4F3 (R275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 100817	NM_000896.3(CYP4F3):c.824G>A (p.Arg275His)	CYP4F3 (R275H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3270685	NM_000896.3(CYP4F3):c.835C>A (p.Pro279Thr)	CYP4F3 (P279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079734	NM_000896.3(CYP4F3):c.872C>A (p.Ala291Asp)	CYP4F3 (A291D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079735	NM_000896.3(CYP4F3):c.899A>T (p.Asp300Val)	CYP4F3 (D300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206987	NM_000896.3(CYP4F3):c.954A>G (p.Ile318Met)	CYP4F3 (I318M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649497	NM_000896.3(CYP4F3):c.999A>T (p.Thr333=)	CYP4F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2485436	NM_000896.3(CYP4F3):c.1024T>A (p.Tyr342Asn)	CYP4F3 (Y342N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079725	NM_000896.3(CYP4F3):c.1058G>A (p.Arg353His)	CYP4F3 (R353H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261327	NM_000896.3(CYP4F3):c.1071G>C (p.Glu357Asp)	CYP4F3 (E357D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595996	NM_000896.3(CYP4F3):c.1093C>T (p.Arg365Cys)	CYP4F3 (R365C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286221	NM_000896.3(CYP4F3):c.1119C>A (p.Asp373Glu)	CYP4F3 (D373E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508244	NM_000896.3(CYP4F3):c.1120G>A (p.Asp374Asn)	CYP4F3 (D374N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443940	NM_000896.3(CYP4F3):c.1123C>G (p.Leu375Val)	CYP4F3 (L375V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3079726	NM_000896.3(CYP4F3):c.1161G>C (p.Glu387Asp)	CYP4F3 (E387D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784389	NM_000896.3(CYP4F3):c.1192G>A (p.Val398Ile)	CYP4F3 (V398I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2558060	NM_000896.3(CYP4F3):c.1205G>T (p.Cys402Phe)	CYP4F3 (C402F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225601	NM_000896.3(CYP4F3):c.1214A>C (p.Asp405Ala)	CYP4F3 (D405A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250923	NM_000896.3(CYP4F3):c.1258T>G (p.Cys420Gly)	CYP4F3 (C420G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270686	NM_000896.3(CYP4F3):c.1274T>C (p.Phe425Ser)	CYP4F3 (F425S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717085	NM_000896.3(CYP4F3):c.1308C>T (p.Asp436=)	CYP4F3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079727	NM_000896.3(CYP4F3):c.1346A>T (p.Asn449Ile)	CYP4F3 (N449I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769448	NM_000896.3(CYP4F3):c.1398-10C>T	CYP4F3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2456749	NM_000896.3(CYP4F3):c.1436A>T (p.Lys479Met)	CYP4F3 (K479M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270683	NM_000896.3(CYP4F3):c.1468C>T (p.Arg490Cys)	CYP4F3 (R490C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079728	NM_000896.3(CYP4F3):c.1489G>A (p.Glu497Lys)	CYP4F3 (E497K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591675	NM_000896.3(CYP4F3):c.1519C>G (p.Arg507Gly)	CYP4F3 (R507G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379971	NM_000896.3(CYP4F3):c.1549G>C (p.Glu517Gln)	CYP4F3 (E517Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 564573	GRCh37/hg19 19p13.12(chr19:15764070-15820326)x1	CYP4F3, CYP4F12	Copy number loss	not provided	GLikely benign
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 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic

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Items: 68