ClinVar for Gene (Select 11283) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270692	NM_007253.4(CYP4F8):c.323G>A (p.Arg108Gln)	CYP4F8 (R108Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270691	NM_007253.4(CYP4F8):c.403G>T (p.Gly135Trp)	CYP4F8 (G135W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270690	NM_007253.4(CYP4F8):c.70G>A (p.Val24Met)	CYP4F8 (V24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270689	NM_007253.4(CYP4F8):c.164G>A (p.Arg55Gln)	CYP4F8 (R55Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270688	NM_007253.4(CYP4F8):c.422G>A (p.Gly141Asp)	CYP4F8 (G141D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270687	NM_007253.4(CYP4F8):c.139C>T (p.Arg47Cys)	CYP4F8 (R47C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079740	NM_007253.4(CYP4F8):c.77G>A (p.Gly26Glu)	CYP4F8 (G26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079739	NM_007253.4(CYP4F8):c.761G>A (p.Arg254Gln)	CYP4F8 (R254Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079738	NM_007253.4(CYP4F8):c.5C>T (p.Ser2Leu)	CYP4F8 (S2L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079737	NM_007253.4(CYP4F8):c.485C>T (p.Pro162Leu)	CYP4F8 (P162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079736	NM_007253.4(CYP4F8):c.1267A>G (p.Asn423Asp)	CYP4F8 (N423D)	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 2649496	NM_007253.4(CYP4F8):c.146G>A (p.Arg49Gln)	CYP4F8 (R49Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2620046	NM_007253.4(CYP4F8):c.830C>T (p.Thr277Ile)	CYP4F8 (T277I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599886	NM_007253.4(CYP4F8):c.395T>C (p.Leu132Pro)	CYP4F8 (L132P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560914	NM_007253.4(CYP4F8):c.109T>A (p.Trp37Arg)	CYP4F8 (W37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559580	NM_007253.4(CYP4F8):c.251A>G (p.Tyr84Cys)	CYP4F8 (Y84C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558591	NM_007253.4(CYP4F8):c.1006G>A (p.Gly336Ser)	CYP4F8 (G336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554061	NM_007253.4(CYP4F8):c.260G>T (p.Gly87Val)	CYP4F8 (G87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2489117	NM_007253.4(CYP4F8):c.73G>T (p.Val25Phe)	CYP4F8 (V25F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 2400379	NM_007253.4(CYP4F8):c.806C>T (p.Ala269Val)	CYP4F8 (A269V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391555	NM_007253.4(CYP4F8):c.401A>T (p.Asp134Val)	CYP4F8 (D134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387975	NM_007253.4(CYP4F8):c.844G>T (p.Gly282Cys)	CYP4F8 (G282C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375225	NM_007253.4(CYP4F8):c.155C>T (p.Pro52Leu)	CYP4F8 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292531	NM_007253.4(CYP4F8):c.722G>A (p.Arg241Gln)	CYP4F8 (R241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274198	NM_007253.4(CYP4F8):c.481A>G (p.Lys161Glu)	CYP4F8 (K161E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272286	NM_007253.4(CYP4F8):c.434G>T (p.Arg145Ile)	CYP4F8 (R145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218548	NM_007253.4(CYP4F8):c.136C>T (p.Arg46Cys)	CYP4F8 (R46C)	Single nucleotide variant (missense variant)	not specified	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 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 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	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 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
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

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Links from Gene

Items: 41