16039[HGNC] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 3294204	NM_139314.3(ANGPTL4):c.17C>A (p.Thr6Lys)	ANGPTL4 (T6K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376899	NM_139314.3(ANGPTL4):c.25G>A (p.Ala9Thr)	ANGPTL4 (A9T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340159	NM_139314.3(ANGPTL4):c.89C>A (p.Ser30Tyr)	ANGPTL4 (S30Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4712	NM_139314.3(ANGPTL4):c.118G>A (p.Glu40Lys)	ANGPTL4 (E40K)	Single nucleotide variant (missense variant +1 more)	Plasma triglyceride level quantitative trait locus	Gassociation
Select item 744498	NM_139314.3(ANGPTL4):c.120G>A (p.Glu40=)	ANGPTL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3042853	NM_139314.3(ANGPTL4):c.186C>T (p.Thr62=)	ANGPTL4	Single nucleotide variant (synonymous variant +1 more)	ANGPTL4-related disorder	GBenign
Select item 3042507	NM_139314.3(ANGPTL4):c.201C>G (p.Ser67Arg)	ANGPTL4 (S67R)	Single nucleotide variant (missense variant +1 more)	ANGPTL4-related disorder	GLikely benign
Select item 3118667	NM_139314.3(ANGPTL4):c.211C>T (p.Arg71Trp)	ANGPTL4 (R71W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118675	NM_139314.3(ANGPTL4):c.398A>G (p.Gln133Arg)	ANGPTL4 (Q133R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783818	NM_139314.3(ANGPTL4):c.430-4del	ANGPTL4	Deletion (intron variant)	not provided	GBenign
Select item 3118677	NM_139314.3(ANGPTL4):c.497C>T (p.Pro166Leu)	ANGPTL4 (P166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251997	NM_139314.3(ANGPTL4):c.521C>T (p.Pro174Leu)	ANGPTL4 (P174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222719	NM_139314.3(ANGPTL4):c.538C>T (p.Arg180Cys)	ANGPTL4 (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730728	NM_139314.3(ANGPTL4):c.548-6C>T	ANGPTL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783819	NM_139314.3(ANGPTL4):c.548-3C>T	ANGPTL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2292984	NM_139314.3(ANGPTL4):c.548G>T (p.Arg183Leu)	ANGPTL4 (R183L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616585	NM_139314.3(ANGPTL4):c.629C>T (p.Pro210Leu)	ANGPTL4 (P210L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041796	NM_139314.3(ANGPTL4):c.630G>A (p.Pro210=)	ANGPTL4	Single nucleotide variant (synonymous variant +1 more)	ANGPTL4-related disorder	GBenign
Select item 139626	NM_139314.3(ANGPTL4):c.649A>T (p.Lys217Ter)	ANGPTL4 (K217*)	Single nucleotide variant (nonsense +1 more)	Plasma triglyceride level quantitative trait locus	Gassociation
Select item 2361664	NM_139314.3(ANGPTL4):c.709T>G (p.Phe237Val)	ANGPTL4 (F199V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468828	NM_139314.3(ANGPTL4):c.715C>T (p.Arg239Trp)	ANGPTL4 (R239W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047940	NM_139314.3(ANGPTL4):c.758-4C>G	ANGPTL4	Single nucleotide variant (intron variant)	ANGPTL4-related disorder	GLikely benign
Select item 3294200	NM_139314.3(ANGPTL4):c.814C>T (p.Arg272Cys)	ANGPTL4 (R272C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118695	NM_139314.3(ANGPTL4):c.815G>A (p.Arg272His)	ANGPTL4 (R272H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768962	NM_139314.3(ANGPTL4):c.833G>A (p.Arg278Gln)	ANGPTL4 (R278Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2220147	NM_139314.3(ANGPTL4):c.871G>A (p.Val291Met)	ANGPTL4 (V253M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462458	NM_139314.3(ANGPTL4):c.877C>A (p.Leu293Met)	ANGPTL4 (L293M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118700	NM_139314.3(ANGPTL4):c.880G>A (p.Gly294Ser)	ANGPTL4 (G294S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355794	NM_139314.3(ANGPTL4):c.919C>T (p.Pro307Ser)	ANGPTL4 (P307S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042332	NM_139314.3(ANGPTL4):c.921C>T (p.Pro307=)	ANGPTL4	Single nucleotide variant (synonymous variant)	ANGPTL4-related disorder	GLikely benign
Select item 2549691	NM_139314.3(ANGPTL4):c.928G>A (p.Gly310Ser)	ANGPTL4 (G310S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371763	NM_139314.3(ANGPTL4):c.949G>A (p.Val317Ile)	ANGPTL4 (V279I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598870	NM_139314.3(ANGPTL4):c.970G>A (p.Val324Ile)	ANGPTL4 (V286I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230129	NM_139314.3(ANGPTL4):c.1024G>A (p.Ala342Thr)	ANGPTL4 (A304T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783820	NM_139314.3(ANGPTL4):c.1080C>T (p.Asn360=)	ANGPTL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3056777	NM_139314.3(ANGPTL4):c.1167G>A (p.Pro389=)	ANGPTL4	Single nucleotide variant (synonymous variant)	ANGPTL4-related disorder	GBenign
Select item 2649197	NM_139314.3(ANGPTL4):c.1201G>A (p.Ala401Thr)	ANGPTL4 (A363T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649198	NM_139314.3(ANGPTL4):c.1202C>G (p.Ala401Gly)	ANGPTL4 (A363G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3041845	NM_139314.3(ANGPTL4):c.*8G>A	ANGPTL4	Single nucleotide variant (3 prime UTR variant)	ANGPTL4-related disorder	GBenign
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 1512476	NC_000019.9:g.(?_8429206)_(8455360_?)dup	ANGPTL4, RAB11B	Duplication	not provided	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
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

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Items: 47