ClinVar for Gene (Select 57834) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2609907	NM_021187.4(CYP4F11):c.52C>T (p.Pro18Ser)	CYP4F11 (P18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602949	NM_021187.4(CYP4F11):c.92T>C (p.Leu31Pro)	CYP4F11 (L31P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597039	NM_021187.4(CYP4F11):c.1093C>T (p.Arg365Cys)	CYP4F11 (R365C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589654	NM_021187.4(CYP4F11):c.28G>C (p.Gly10Arg)	CYP4F11 (G10R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548410	NM_021187.4(CYP4F11):c.29G>A (p.Gly10Asp)	CYP4F11 (G10D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546415	NM_021187.4(CYP4F11):c.764G>A (p.Arg255His)	CYP4F11 (R255H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544033	NM_021187.4(CYP4F11):c.1093C>A (p.Arg365Ser)	CYP4F11 (R365S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515697	NM_021187.4(CYP4F11):c.53C>G (p.Pro18Arg)	CYP4F11 (P18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2490456	NM_021187.4(CYP4F11):c.1304C>T (p.Pro435Leu)	CYP4F11 (P435L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486594	NM_021187.4(CYP4F11):c.1504C>T (p.Pro502Ser)	CYP4F11 (P502S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485168	NM_021187.4(CYP4F11):c.670G>A (p.Ala224Thr)	CYP4F11 (A224T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483881	NM_021187.4(CYP4F11):c.927T>A (p.Asp309Glu)	CYP4F11 (D309E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464528	NM_021187.4(CYP4F11):c.1385C>T (p.Ser462Leu)	CYP4F11 (S462L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462943	NM_021187.4(CYP4F11):c.5C>T (p.Pro2Leu)	CYP4F11 (P2L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 2378288	NM_021187.4(CYP4F11):c.1094G>A (p.Arg365His)	CYP4F11 (R365H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358114	NM_021187.4(CYP4F11):c.322C>T (p.Arg108Trp)	CYP4F11 (R108W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317539	NM_021187.4(CYP4F11):c.821G>A (p.Arg274Gln)	CYP4F11 (R274Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307880	NM_021187.4(CYP4F11):c.728C>A (p.Thr243Lys)	CYP4F11 (T243K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300237	NM_021187.4(CYP4F11):c.836C>T (p.Pro279Leu)	CYP4F11 (P279L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300153	NM_021187.4(CYP4F11):c.425A>G (p.Asp142Gly)	CYP4F11 (D142G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265690	NM_021187.4(CYP4F11):c.374A>G (p.Tyr125Cys)	CYP4F11 (Y125C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258199	NM_021187.4(CYP4F11):c.1064G>A (p.Arg355Gln)	CYP4F11 (R355Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252099	NM_021187.4(CYP4F11):c.44C>T (p.Ala15Val)	CYP4F11 (A15V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246265	NM_021187.4(CYP4F11):c.74T>C (p.Val25Ala)	CYP4F11 (V25A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2244236	NM_021187.4(CYP4F11):c.853G>A (p.Asp285Asn)	CYP4F11 (D285N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234660	NM_021187.4(CYP4F11):c.1471A>T (p.Ile491Phe)	CYP4F11 (I491F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218382	NM_021187.4(CYP4F11):c.823C>T (p.Arg275Cys)	CYP4F11 (R275C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217300	NM_021187.4(CYP4F11):c.852T>G (p.Asp284Glu)	CYP4F11 (D284E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ABHD8, ANKLE1 +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
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRL1, ADGRL1-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 47