ZNF483[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 2395085	NM_133464.5(ZNF483):c.88A>G (p.Arg30Gly)	ZNF483 (R30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475000	NM_133464.5(ZNF483):c.178T>C (p.Tyr60His)	ZNF483 (Y60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236146	NM_133464.5(ZNF483):c.233A>G (p.Asn78Ser)	ZNF483 (N78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318572	NM_133464.5(ZNF483):c.325A>G (p.Arg109Gly)	ZNF483 (R109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258359	NM_133464.5(ZNF483):c.374C>T (p.Thr125Ile)	ZNF483 (T125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392204	NM_133464.5(ZNF483):c.508A>G (p.Ile170Val)	ZNF483 (I170V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281715	NM_133464.5(ZNF483):c.632T>G (p.Phe211Cys)	ZNF483 (F211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589202	NM_133464.5(ZNF483):c.674T>G (p.Val225Gly)	ZNF483 (V225G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196082	NM_133464.5(ZNF483):c.741A>T (p.Lys247Asn)	ZNF483 (K247N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535998	NM_133464.5(ZNF483):c.742A>G (p.Ile248Val)	ZNF483 (I248V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258361	NM_133464.5(ZNF483):c.815A>G (p.Glu272Gly)	ZNF483 (E272G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330407	NM_133464.5(ZNF483):c.904C>G (p.Pro302Ala)	ZNF483 (P302A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617144	NM_133464.5(ZNF483):c.928A>C (p.Asn310His)	ZNF483 (N310H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372867	NM_133464.5(ZNF483):c.943T>C (p.Ser315Pro)	ZNF483 (S315P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301819	NM_133464.5(ZNF483):c.989G>A (p.Arg330Gln)	ZNF483 (R330Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258360	NM_133464.5(ZNF483):c.1039C>A (p.Leu347Met)	ZNF483 (L347M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247080	NM_133464.5(ZNF483):c.1046G>T (p.Arg349Leu)	ZNF483 (R349L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601482	NM_133464.5(ZNF483):c.1085A>G (p.Asn362Ser)	ZNF483 (N362S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2351959	NM_133464.5(ZNF483):c.1138C>T (p.Arg380Cys)	ZNF483 (R380C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459438	NM_133464.5(ZNF483):c.1193T>C (p.Ile398Thr)	ZNF483 (I398T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222424	NM_133464.5(ZNF483):c.1250G>A (p.Arg417Gln)	ZNF483 (R417Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254807	NM_133464.5(ZNF483):c.1273G>A (p.Ala425Thr)	ZNF483 (A425T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2354217	NM_133464.5(ZNF483):c.1442C>T (p.Ser481Leu)	ZNF483 (S481L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603640	NM_133464.5(ZNF483):c.1570A>G (p.Lys524Glu)	ZNF483 (K524E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467454	NM_133464.5(ZNF483):c.2084A>G (p.Tyr695Cys)	ZNF483 (Y695C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196080	NM_133464.5(ZNF483):c.2149A>G (p.Arg717Gly)	ZNF483 (R717G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196081	NM_133464.5(ZNF483):c.2213G>A (p.Arg738Gln)	ZNF483 (R738Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220798	NM_001146108.2(PTGR1):c.917T>A (p.Phe306Tyr)	PTGR1, ZNF483 (F306Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220797	NM_001146108.2(PTGR1):c.901T>C (p.Tyr301His)	PTGR1, ZNF483 (Y301H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2214886	NM_001146108.2(PTGR1):c.853A>G (p.Lys285Glu)	PTGR1, ZNF483 (K285E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488645	NM_001146108.2(PTGR1):c.851T>C (p.Leu284Pro)	PTGR1, ZNF483 (L284P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 745658	NM_001146108.2(PTGR1):c.838C>T (p.Arg280Cys)	PTGR1, ZNF483 (R280C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2515184	NM_001146108.2(PTGR1):c.820C>T (p.Arg274Cys)	PTGR1, ZNF483 (R274C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253043	NM_001146108.2(PTGR1):c.814G>A (p.Val272Ile)	PTGR1, ZNF483 (V272I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363436	NM_001146108.2(PTGR1):c.797G>A (p.Arg266His)	PTGR1, ZNF483 (R266H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 221730	GRCh38/hg38 9q31.3(chr9:111574733-111624855)x1	LOC132089650, PTGR1 +1 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 2211666	NM_001146108.2(PTGR1):c.754C>A (p.Pro252Thr)	PTGR1, ZNF483 (P252T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220796	NM_001146108.2(PTGR1):c.751C>T (p.Leu251Phe)	PTGR1, ZNF483 (L251F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220795	NM_001146108.2(PTGR1):c.739A>G (p.Arg247Gly)	PTGR1, ZNF483 (R247G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348052	NM_001146108.2(PTGR1):c.712A>G (p.Ile238Val)	PTGR1, ZNF483 (I238V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349483	NM_001146108.2(PTGR1):c.682G>A (p.Gly228Ser)	PTGR1, ZNF483 (G228S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707440	GRCh37/hg19 9q31.3-32(chr9:113673200-115935268)x1	DNAJC25, DNAJC25-GNG10 +19 more	Copy number loss	See cases	GUncertain significance
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 686835	GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1	AKNA, ALAD +39 more	Copy number loss	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 563674	GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1	TXN, FKTN +44 more	Copy number loss	not provided	GPathogenic
Select item 563672	GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3	LPAR1, EPB41L4B +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 442115	GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1	AKNA, ALAD +48 more	Copy number loss	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394605	GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1	ABITRAM, ACTL7A +61 more	Copy number loss	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 75