ZNF510[gene] - ClinVar

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

Search results

Items: 80

	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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 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 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 3196278	NM_014930.3(ZNF510):c.1993T>C (p.Cys665Arg)	ZNF510 (C603R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067234	NM_014930.3(ZNF510):c.1976A>G (p.Asn659Ser)	ZNF510 (N597S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3196277	NM_014930.3(ZNF510):c.1975A>C (p.Asn659His)	ZNF510 (N659H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224730	NM_014930.3(ZNF510):c.1957G>A (p.Glu653Lys)	ZNF510 (E591K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244094	NM_014930.3(ZNF510):c.1840A>G (p.Ile614Val)	ZNF510 (I552V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337420	NM_014930.3(ZNF510):c.1832G>A (p.Arg611Gln)	ZNF510 (R549Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247982	NM_014930.3(ZNF510):c.1756A>G (p.Thr586Ala)	ZNF510 (T524A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225538	NM_014930.3(ZNF510):c.1748G>A (p.Arg583Gln)	ZNF510 (R583Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396807	NM_014930.3(ZNF510):c.1747C>T (p.Arg583Trp)	ZNF510 (R583W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067235	NM_014930.3(ZNF510):c.1727A>C (p.Glu576Ala)	ZNF510 (E514A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2362233	NM_014930.3(ZNF510):c.1721G>C (p.Cys574Ser)	ZNF510 (C512S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258460	NM_014930.3(ZNF510):c.1660T>C (p.Trp554Arg)	ZNF510 (W492R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196274	NM_014930.3(ZNF510):c.1628C>G (p.Thr543Ser)	ZNF510 (T481S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616722	NM_014930.3(ZNF510):c.1622A>G (p.Glu541Gly)	ZNF510 (E479G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247522	NM_014930.3(ZNF510):c.1605G>C (p.Gln535His)	ZNF510 (Q473H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196273	NM_014930.3(ZNF510):c.1523G>A (p.Arg508Lys)	ZNF510 (R446K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395788	NM_014930.3(ZNF510):c.1402A>G (p.Thr468Ala)	ZNF510 (T468A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387809	NM_014930.3(ZNF510):c.1387A>C (p.Asn463His)	ZNF510 (N401H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369337	NM_014930.3(ZNF510):c.1328A>G (p.Gln443Arg)	ZNF510 (Q381R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271736	NM_014930.3(ZNF510):c.1217G>A (p.Cys406Tyr)	ZNF510 (C344Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258458	NM_014930.3(ZNF510):c.1184G>A (p.Arg395Gln)	ZNF510 (R333Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196272	NM_014930.3(ZNF510):c.1180C>T (p.Arg394Cys)	ZNF510 (R332C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378254	NM_014930.3(ZNF510):c.1163C>T (p.Thr388Met)	ZNF510 (T326M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288430	NM_014930.3(ZNF510):c.1149G>T (p.Lys383Asn)	ZNF510 (K383N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196271	NM_014930.3(ZNF510):c.1144A>T (p.Asn382Tyr)	ZNF510 (N382Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229075	NM_014930.3(ZNF510):c.1087C>A (p.Pro363Thr)	ZNF510 (P301T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304519	NM_014930.3(ZNF510):c.955G>C (p.Glu319Gln)	ZNF510 (E257Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345041	NM_014930.3(ZNF510):c.950C>T (p.Ser317Phe)	ZNF510 (S255F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324446	NM_014930.3(ZNF510):c.946A>G (p.Lys316Glu)	ZNF510 (K254E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258461	NM_014930.3(ZNF510):c.848A>G (p.Lys283Arg)	ZNF510 (K221R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196284	NM_014930.3(ZNF510):c.783A>C (p.Lys261Asn)	ZNF510 (K199N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196282	NM_014930.3(ZNF510):c.728A>T (p.Lys243Met)	ZNF510 (K181M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253792	NM_014930.3(ZNF510):c.683A>C (p.His228Pro)	ZNF510 (H166P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340836	NM_014930.3(ZNF510):c.682C>T (p.His228Tyr)	ZNF510 (H228Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196281	NM_014930.3(ZNF510):c.617T>C (p.Val206Ala)	ZNF510 (V206A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533135	NM_014930.3(ZNF510):c.593C>G (p.Thr198Arg)	ZNF510 (T136R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258459	NM_014930.3(ZNF510):c.499G>A (p.Val167Ile)	ZNF510 (V167I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408901	NM_014930.3(ZNF510):c.419C>A (p.Ala140Glu)	ZNF510 (A78E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250374	NM_014930.3(ZNF510):c.337A>C (p.Asn113His)	ZNF510 (N113H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258457	NM_014930.3(ZNF510):c.247G>A (p.Val83Ile)	ZNF510 (V83I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196285	NM_014930.3(ZNF510):c.94C>A (p.Leu32Ile)	ZNF510 (L32I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196283	NM_014930.3(ZNF510):c.76C>A (p.Pro26Thr)	ZNF510 (P26T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196280	NM_014930.3(ZNF510):c.41T>C (p.Leu14Pro)	ZNF510 (L14P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594966	NM_014930.3(ZNF510):c.22A>G (p.Ile8Val)	ZNF510 (I8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	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 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
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 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
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 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
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 443721	GRCh37/hg19 9q22.33(chr9:99302837-99576623)x1	CDC14B, PRXL2C +1 more	Copy number loss	See cases	GLikely benign
Select item 443720	GRCh37/hg19 9q22.32-22.33(chr9:96732332-100175689)x1	AOPEP, CCDC180 +26 more	Copy number loss	See cases	GPathogenic
Select item 442793	GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3	ALG2, ANKS6 +40 more	Copy number gain	See cases	GLikely pathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394717	GRCh37/hg19 9q22.32-22.33(chr9:97355862-99805480)x1	AOPEP, CDC14B +17 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: 80