CYP4F12[gene] - ClinVar

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Items: 56

	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)	LOC130063834, LOC130063835 +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 145852	GRCh38/hg38 19p13.12(chr19:15631691-15692480)x3	CYP4F12, CYP4F3	Copy number gain	See cases	GLikely benign
Select item 2469913	NM_023944.4(CYP4F12):c.167A>C (p.Lys56Thr)	CYP4F12 (K56T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352450	NM_023944.4(CYP4F12):c.253T>C (p.Ser85Pro)	CYP4F12 (S85P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2405270	NM_023944.4(CYP4F12):c.292T>C (p.Phe98Leu)	CYP4F12 (F98L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216555	NM_023944.4(CYP4F12):c.323G>A (p.Arg108Gln)	CYP4F12 (R108Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569773	NM_023944.4(CYP4F12):c.436C>T (p.Arg146Cys)	CYP4F12 (R146C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305973	NM_023944.4(CYP4F12):c.440A>G (p.His147Arg)	CYP4F12 (H147R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305974	NM_023944.4(CYP4F12):c.451C>G (p.Leu151Val)	CYP4F12 (L151V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527788	NM_023944.4(CYP4F12):c.638A>C (p.His213Pro)	CYP4F12 (H213P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525087	NM_023944.4(CYP4F12):c.641G>T (p.Cys214Phe)	CYP4F12 (C214F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221683	NM_023944.4(CYP4F12):c.652C>T (p.Pro218Ser)	CYP4F12 (P218S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607521	NM_023944.4(CYP4F12):c.726C>G (p.His242Gln)	CYP4F12 (H242Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278600	NM_023944.4(CYP4F12):c.745C>T (p.Leu249Phe)	CYP4F12 (L249F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375482	NM_023944.4(CYP4F12):c.761G>A (p.Arg254Gln)	CYP4F12 (R254Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2345879	NM_023944.4(CYP4F12):c.814C>T (p.Arg272Trp)	CYP4F12 (R272W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079707	NM_023944.4(CYP4F12):c.833T>C (p.Leu278Pro)	CYP4F12 (L278P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079708	NM_023944.4(CYP4F12):c.928G>C (p.Gly310Arg)	CYP4F12 (G310R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079709	NM_023944.4(CYP4F12):c.971C>G (p.Thr324Ser)	CYP4F12 (T324S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262611	NM_023944.4(CYP4F12):c.976A>C (p.Met326Leu)	CYP4F12 (M326L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649498	NM_023944.4(CYP4F12):c.981T>C (p.Phe327=)	CYP4F12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2456033	NM_023944.4(CYP4F12):c.998C>T (p.Thr333Met)	CYP4F12 (T333M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234584	NM_023944.4(CYP4F12):c.1054G>A (p.Glu352Lys)	CYP4F12 (E352K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079698	NM_023944.4(CYP4F12):c.1072G>A (p.Val358Met)	CYP4F12 (V358M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079699	NM_023944.4(CYP4F12):c.1093C>G (p.Arg365Gly)	CYP4F12 (R365G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 151457	GRCh38/hg38 19p13.12(chr19:15692480-15713236)x3	CYP4F12	Copy number gain	See cases	GBenign
Select item 2604484	NM_023944.4(CYP4F12):c.1152C>G (p.Cys384Trp)	CYP4F12 (C384W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079700	NM_023944.4(CYP4F12):c.1169G>C (p.Arg390Thr)	CYP4F12 (R390T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079701	NM_023944.4(CYP4F12):c.1180C>G (p.Pro394Ala)	CYP4F12 (P394A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225327	NM_023944.4(CYP4F12):c.1215C>G (p.Asp405Glu)	CYP4F12 (D405E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384174	NM_023944.4(CYP4F12):c.1235G>A (p.Arg412Gln)	CYP4F12 (R412Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079702	NM_023944.4(CYP4F12):c.1274T>C (p.Ile425Thr)	CYP4F12 (I425T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079703	NM_023944.4(CYP4F12):c.1298T>C (p.Val433Ala)	CYP4F12 (V433A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613593	NM_023944.4(CYP4F12):c.1331G>C (p.Arg444Pro)	CYP4F12 (R444P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079704	NM_023944.4(CYP4F12):c.1355G>A (p.Gly452Glu)	CYP4F12 (G452E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2343422	NM_023944.4(CYP4F12):c.1403G>A (p.Cys468Tyr)	CYP4F12 (C468Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079705	NM_023944.4(CYP4F12):c.1415C>T (p.Ala472Val)	CYP4F12 (A472V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526757	NM_023944.4(CYP4F12):c.1420G>A (p.Ala474Thr)	CYP4F12 (A474T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079706	NM_023944.4(CYP4F12):c.1496G>A (p.Arg499His)	CYP4F12 (R499H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229950	NM_023944.4(CYP4F12):c.1534C>T (p.Leu512Phe)	CYP4F12 (L512F)	Single nucleotide variant (missense variant +1 more)	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	SLC1A6, RAB8A +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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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: 56