ClinVar for Gene (Select 83854) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294264	NM_031917.3(ANGPTL6):c.196C>T (p.Arg66Cys)	ANGPTL6 (R66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294253	NM_031917.3(ANGPTL6):c.714G>T (p.Met238Ile)	ANGPTL6 (M238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294243	NM_031917.3(ANGPTL6):c.260G>A (p.Gly87Asp)	ANGPTL6, LOC130063467 (G87D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294232	NM_031917.3(ANGPTL6):c.307C>A (p.Leu103Met)	ANGPTL6 (L103M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294224	NM_031917.3(ANGPTL6):c.1208G>A (p.Arg403Gln)	ANGPTL6 (R403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118820	NM_031917.3(ANGPTL6):c.781G>A (p.Ala261Thr)	ANGPTL6 (A261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118817	NM_031917.3(ANGPTL6):c.71C>A (p.Ala24Asp)	ANGPTL6 (A24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118797	NM_031917.3(ANGPTL6):c.404C>A (p.Ala135Glu)	ANGPTL6, LOC130063466 (A135E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118791	NM_031917.3(ANGPTL6):c.305G>A (p.Gly102Asp)	ANGPTL6 (G102D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118784	NM_031917.3(ANGPTL6):c.230G>A (p.Arg77His)	ANGPTL6 (R77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118774	NM_031917.3(ANGPTL6):c.152G>A (p.Arg51Gln)	ANGPTL6 (R51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118767	NM_031917.3(ANGPTL6):c.1120C>T (p.Arg374Cys)	ANGPTL6 (R374C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048138	NM_031917.3(ANGPTL6):c.392A>T (p.Glu131Val)	ANGPTL6, LOC130063466 (E131V)	Single nucleotide variant (missense variant)	ANGPTL6-related disorder	GLikely benign
Select item 2649281	NM_031917.3(ANGPTL6):c.287T>C (p.Leu96Pro)	ANGPTL6, LOC130063467 (L96P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2649280	NM_031917.3(ANGPTL6):c.1072C>T (p.Arg358Cys)	ANGPTL6 (R358C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2635520	NM_031917.3(ANGPTL6):c.1115A>C (p.His372Pro)	ANGPTL6 (H372P)	Single nucleotide variant (missense variant)	ANGPTL6-related disorder	GUncertain significance
Select item 2602537	NM_031917.3(ANGPTL6):c.205G>C (p.Val69Leu)	ANGPTL6 (V69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593837	NM_031917.3(ANGPTL6):c.382C>G (p.Leu128Val)	ANGPTL6, LOC130063466 (L128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561594	NM_031917.3(ANGPTL6):c.1019G>A (p.Arg340His)	ANGPTL6 (R340H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553647	NM_031917.3(ANGPTL6):c.1076C>G (p.Ala359Gly)	ANGPTL6 (A359G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552505	NM_031917.3(ANGPTL6):c.232G>C (p.Glu78Gln)	ANGPTL6 (E78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535314	NM_031917.3(ANGPTL6):c.1363G>A (p.Ala455Thr)	ANGPTL6, SHFL (A455T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2486526	NM_031917.3(ANGPTL6):c.493C>T (p.Arg165Cys)	ANGPTL6, LOC130063466 (R165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482149	NM_031917.3(ANGPTL6):c.193C>A (p.Leu65Met)	ANGPTL6 (L65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470383	NM_031917.3(ANGPTL6):c.623G>A (p.Arg208His)	ANGPTL6 (R208H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469403	NM_031917.3(ANGPTL6):c.965G>A (p.Arg322Gln)	ANGPTL6 (R322Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460501	NM_031917.3(ANGPTL6):c.299G>A (p.Ser100Asn)	ANGPTL6 (S100N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2459555	NM_031917.3(ANGPTL6):c.1063C>T (p.Arg355Cys)	ANGPTL6 (R355C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403621	NM_031917.3(ANGPTL6):c.301C>G (p.Arg101Gly)	ANGPTL6 (R101G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388696	NM_031917.3(ANGPTL6):c.790C>T (p.Arg264Cys)	ANGPTL6 (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366571	NM_031917.3(ANGPTL6):c.1316G>A (p.Arg439Gln)	ANGPTL6, SHFL (R439Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2352542	NM_031917.3(ANGPTL6):c.446A>C (p.Glu149Ala)	ANGPTL6, LOC130063466 (E149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322123	NM_031917.3(ANGPTL6):c.1179C>G (p.Asp393Glu)	ANGPTL6 (D393E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309780	NM_031917.3(ANGPTL6):c.1291G>A (p.Val431Met)	ANGPTL6, SHFL (V431M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2306543	NM_031917.3(ANGPTL6):c.502G>C (p.Ala168Pro)	ANGPTL6 (A168P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284849	NM_031917.3(ANGPTL6):c.502G>A (p.Ala168Thr)	ANGPTL6 (A168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254577	NM_031917.3(ANGPTL6):c.1111G>A (p.Asp371Asn)	ANGPTL6 (D371N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243242	NM_031917.3(ANGPTL6):c.439T>C (p.Ser147Pro)	ANGPTL6, LOC130063466 (S147P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224250	NM_031917.3(ANGPTL6):c.371C>T (p.Pro124Leu)	ANGPTL6, LOC130063466 (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2096315	NM_031917.3(ANGPTL6):c.404C>G (p.Ala135Gly)	ANGPTL6, LOC130063466 (A135G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 778156	NM_031917.3(ANGPTL6):c.1104C>T (p.Pro368=)	ANGPTL6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 757118	NM_031917.3(ANGPTL6):c.369C>G (p.Gly123=)	ANGPTL6, LOC130063466	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738121	NM_031917.3(ANGPTL6):c.426C>T (p.Arg142=)	ANGPTL6, LOC130063466	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736966	NM_031917.3(ANGPTL6):c.15G>A (p.Trp5Ter)	ANGPTL6 (W5*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 560043	Single allele	ANGPTL6, EIF3G +5 more	Duplication	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 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 51