PCSK4[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 221537	GRCh38/hg38 19p13.3(chr19:1453072-1481984)x1	APC2, C19orf25 +9 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2409148	NM_017573.5(PCSK4):c.2203G>T (p.Ala735Ser)	PCSK4 (A735S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2470990	NM_017573.5(PCSK4):c.2185A>G (p.Met729Val)	PCSK4 (M729V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2234053	NM_017573.5(PCSK4):c.2156T>C (p.Leu719Pro)	PCSK4 (L719P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3210451	NM_017573.5(PCSK4):c.2123C>T (p.Ser708Leu)	PCSK4 (S708L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2457560	NM_017573.5(PCSK4):c.2111G>A (p.Arg704His)	PCSK4 (R704H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2512101	NM_017573.5(PCSK4):c.2080C>T (p.Arg694Trp)	PCSK4 (R694W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2376020	NM_017573.5(PCSK4):c.2074C>T (p.Arg692Cys)	PCSK4 (R692C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2346012	NM_017573.5(PCSK4):c.2068G>T (p.Asp690Tyr)	PCSK4 (D690Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2555861	NM_017573.5(PCSK4):c.1985G>A (p.Gly662Asp)	PCSK4 (G662D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2395984	NM_017573.5(PCSK4):c.1978C>T (p.Arg660Cys)	PCSK4 (R660C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2648935	NM_017573.5(PCSK4):c.1946G>T (p.Cys649Phe)	PCSK4 (C649F)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2391476	NM_017573.5(PCSK4):c.1886A>G (p.Asn629Ser)	PCSK4 (N629S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2326191	NM_017573.5(PCSK4):c.1876C>T (p.Arg626Trp)	PCSK4 (R626W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2246390	NM_017573.5(PCSK4):c.1864T>C (p.Tyr622His)	PCSK4 (Y622H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2287334	NM_017573.5(PCSK4):c.1838A>G (p.Tyr613Cys)	PCSK4 (Y613C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2547319	NM_017573.5(PCSK4):c.1832C>T (p.Pro611Leu)	PCSK4 (P611L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2648936	NM_017573.5(PCSK4):c.1775C>T (p.Thr592Ile)	PCSK4 (T592I)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2206960	NM_017573.5(PCSK4):c.1738G>A (p.Glu580Lys)	PCSK4 (E580K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250711	NM_017573.5(PCSK4):c.1736C>T (p.Ala579Val)	PCSK4 (A579V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3210450	NM_017573.5(PCSK4):c.1684T>A (p.Tyr562Asn)	PCSK4 (Y562N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365896	NM_017573.5(PCSK4):c.1605C>G (p.Asn535Lys)	PCSK4 (N535K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210449	NM_017573.5(PCSK4):c.1542G>C (p.Met514Ile)	PCSK4 (M514I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210448	NM_017573.5(PCSK4):c.1522A>C (p.Ile508Leu)	PCSK4 (I508L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365338	NM_017573.5(PCSK4):c.1490C>G (p.Thr497Arg)	PCSK4 (T497R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587976	NM_017573.5(PCSK4):c.1460G>T (p.Arg487Leu)	PCSK4 (R487L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338835	NM_017573.5(PCSK4):c.1433C>T (p.Ala478Val)	PCSK4 (A478V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210447	NM_017573.5(PCSK4):c.1426G>A (p.Val476Ile)	PCSK4 (V476I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304490	NM_017573.5(PCSK4):c.1420G>A (p.Glu474Lys)	PCSK4 (E474K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2611289	NM_017573.5(PCSK4):c.1382G>A (p.Ser461Asn)	PCSK4 (S461N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210446	NM_017573.5(PCSK4):c.1331G>A (p.Arg444His)	PCSK4 (R444H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380487	NM_017573.5(PCSK4):c.1310G>A (p.Gly437Glu)	PCSK4 (G437E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234963	NM_017573.5(PCSK4):c.1306G>A (p.Ala436Thr)	PCSK4 (A436T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210444	NM_017573.5(PCSK4):c.1258G>A (p.Gly420Ser)	PCSK4 (G420S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337818	NM_017573.5(PCSK4):c.1226C>T (p.Ala409Val)	PCSK4 (A409V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519991	NM_017573.5(PCSK4):c.1183T>G (p.Trp395Gly)	PCSK4 (W395G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622765	NM_017573.5(PCSK4):c.1133T>A (p.Leu378Gln)	PCSK4 (L378Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648937	NM_017573.5(PCSK4):c.1050G>A (p.Val350=)	PCSK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2298972	NM_017573.5(PCSK4):c.989G>A (p.Arg330His)	PCSK4 (R330H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210459	NM_017573.5(PCSK4):c.974C>G (p.Thr325Ser)	PCSK4 (T325S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210458	NM_017573.5(PCSK4):c.952C>T (p.His318Tyr)	PCSK4 (H318Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262284	NM_017573.5(PCSK4):c.893C>T (p.Ser298Leu)	PCSK4 (S298L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393491	NM_017573.5(PCSK4):c.860G>A (p.Arg287His)	PCSK4 (R287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263207	NM_017573.5(PCSK4):c.827G>A (p.Arg276His)	PCSK4 (R276H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210457	NM_017573.5(PCSK4):c.808G>T (p.Gly270Cys)	PCSK4 (G270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623727	NM_017573.5(PCSK4):c.808G>A (p.Gly270Ser)	PCSK4 (G270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345848	NM_017573.5(PCSK4):c.790G>A (p.Asp264Asn)	PCSK4 (D264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210456	NM_017573.5(PCSK4):c.745C>A (p.Pro249Thr)	PCSK4 (P249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284746	NM_017573.5(PCSK4):c.737G>A (p.Ser246Asn)	PCSK4 (S246N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471582	NM_017573.5(PCSK4):c.731C>T (p.Ser244Leu)	PCSK4 (S244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238053	NM_017573.5(PCSK4):c.712G>A (p.Asp238Asn)	PCSK4 (D238N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470304	NM_017573.5(PCSK4):c.700G>A (p.Gly234Ser)	PCSK4 (G234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350515	NM_017573.5(PCSK4):c.688C>T (p.Arg230Trp)	PCSK4 (R230W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220670	NM_017573.5(PCSK4):c.674G>A (p.Arg225Gln)	PCSK4 (R225Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467414	NM_017573.5(PCSK4):c.649G>A (p.Gly217Ser)	PCSK4 (G217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210455	NM_017573.5(PCSK4):c.598G>A (p.Gly200Arg)	PCSK4 (G200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210454	NM_017573.5(PCSK4):c.568C>T (p.Arg190Cys)	PCSK4 (R190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617878	NM_017573.5(PCSK4):c.507G>T (p.Trp169Cys)	PCSK4 (W169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210453	NM_017573.5(PCSK4):c.484G>C (p.Glu162Gln)	PCSK4 (E162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214189	NM_017573.5(PCSK4):c.457G>A (p.Val153Met)	PCSK4 (V153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616187	NM_017573.5(PCSK4):c.408C>G (p.Asp136Glu)	PCSK4 (D136E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457591	NM_017573.5(PCSK4):c.394G>A (p.Glu132Lys)	PCSK4 (E132K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299268	NM_017573.5(PCSK4):c.373A>C (p.Lys125Gln)	PCSK4 (K125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210452	NM_017573.5(PCSK4):c.221G>T (p.Arg74Leu)	PCSK4 (R74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349317	NM_017573.5(PCSK4):c.151C>A (p.Arg51Ser)	LOC130062961, PCSK4 (R51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253858	NM_017573.5(PCSK4):c.73G>A (p.Gly25Arg)	LOC130062961, PCSK4 (G25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287778	NM_017573.5(PCSK4):c.67G>C (p.Ala23Pro)	LOC130062961, PCSK4 (A23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241781	NM_017573.5(PCSK4):c.16A>C (p.Ile6Leu)	LOC130062961, PCSK4 (I6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	TCF3, PLK5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	CSNK1G2, PEAK3 +35 more	Duplication	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2424130	NC_000019.9:g.(?_1465134)_(1497210_?)dup	APC2, C19orf25 +2 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2422486	NC_000019.9:g.(?_1206913)_(1650247_?)del	CBARP, CIRBP +20 more	Deletion	Cerebral creatine deficiency syndrome	GPathogenic
Select item 1808976	GRCh37/hg19 19p13.3(chr19:1356893-1676446)x1	ADAMTSL5, APC2 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1073440	NC_000019.9:g.(?_1486852)_(1491383_?)del	PCSK4, REEP6	Deletion	not provided	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 685369	GRCh37/hg19 19p13.3(chr19:1342624-1817866)x3	ADAMTSL5, APC2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 635917	NC_000019.9:g.1406030_3597207dup	ABHD17A, ADAMTSL5 +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
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 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic

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Items: 100