ZNF485[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 3196096	NM_145312.4(ZNF485):c.29C>T (p.Pro10Leu)	ZNF485 (P10L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3196097	NM_145312.4(ZNF485):c.43G>A (p.Asp15Asn)	ZNF485 (D15N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588075	NM_145312.4(ZNF485):c.65G>A (p.Arg22Gln)	ZNF485 (R22Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2547169	NM_145312.4(ZNF485):c.67A>C (p.Ile23Leu)	ZNF485 (I23L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388858	NM_145312.4(ZNF485):c.152G>A (p.Gly51Glu)	ZNF485 (G51E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535311	NM_145312.4(ZNF485):c.203A>G (p.Glu68Gly)	ZNF485 (E68G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364839	NM_145312.4(ZNF485):c.208T>C (p.Trp70Arg)	ZNF485 (W70R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242646	NM_145312.4(ZNF485):c.220C>G (p.Arg74Gly)	ZNF485 (R74G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221562	NM_145312.4(ZNF485):c.224A>G (p.Glu75Gly)	ZNF485 (E75G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258370	NM_145312.4(ZNF485):c.250G>A (p.Glu84Lys)	ZNF485 (E84K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258373	NM_145312.4(ZNF485):c.316G>A (p.Gly106Arg)	ZNF485 (G15R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237675	NM_145312.4(ZNF485):c.332G>A (p.Ser111Asn)	ZNF485 (S111N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348307	NM_145312.4(ZNF485):c.337A>G (p.Met113Val)	ZNF485 (M113V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332287	NM_145312.4(ZNF485):c.341T>C (p.Met114Thr)	ZNF485 (M114T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204495	NM_145312.4(ZNF485):c.389A>G (p.Tyr130Cys)	ZNF485 (Y39C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258374	NM_145312.4(ZNF485):c.428C>T (p.Ser143Leu)	ZNF485 (S143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265978	NM_145312.4(ZNF485):c.490G>C (p.Gly164Arg)	ZNF485 (G164R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196098	NM_145312.4(ZNF485):c.504G>C (p.Met168Ile)	ZNF485 (M168I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618939	NM_145312.4(ZNF485):c.534G>T (p.Lys178Asn)	ZNF485 (K178N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196099	NM_145312.4(ZNF485):c.599C>T (p.Thr200Met)	ZNF485 (T109M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325581	NM_145312.4(ZNF485):c.641A>G (p.His214Arg)	ZNF485 (H123R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258368	NM_145312.4(ZNF485):c.782A>C (p.Glu261Ala)	ZNF485 (E170A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537415	NM_145312.4(ZNF485):c.847T>C (p.Ser283Pro)	ZNF485 (S283P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258369	NM_145312.4(ZNF485):c.1019C>G (p.Ser340Cys)	ZNF485 (S340C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258371	NM_145312.4(ZNF485):c.1052A>G (p.Asn351Ser)	ZNF485 (N260S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543485	NM_145312.4(ZNF485):c.1058C>T (p.Pro353Leu)	ZNF485 (P353L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326520	NM_145312.4(ZNF485):c.1058C>G (p.Pro353Arg)	ZNF485 (P262R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493384	NM_145312.4(ZNF485):c.1105C>T (p.Leu369Phe)	ZNF485 (L278F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258372	NM_145312.4(ZNF485):c.1147C>G (p.His383Asp)	ZNF485 (H383D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203995	NM_145312.4(ZNF485):c.1211A>G (p.His404Arg)	ZNF485 (H313R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196094	NM_145312.4(ZNF485):c.1262G>A (p.Arg421Gln)	ZNF485 (R421Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196095	NM_145312.4(ZNF485):c.1309G>A (p.Ala437Thr)	ZNF485 (A437T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603025	NM_145312.4(ZNF485):c.1321A>G (p.Ser441Gly)	ZNF485 (S441G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527583	GRCh37/hg19 10q11.21(chr10:43683704-44151599)	FXYD4, HNRNPF +4 more	Copy number gain	not specified	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 624469	GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3	ALOX5, ANKRD30A +24 more	Copy number gain	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443388	GRCh37/hg19 10q11.21(chr10:42706947-44489498)x3	BMS1, CSGALNACT2 +8 more	Copy number gain	See cases	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 51