ZNF483[gene] - ClinVar

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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)	ZNF483, PTGR1 (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

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Items: 75