ClinVar for Gene (Select 22869) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +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 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	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 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 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 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	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

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Links from Gene

Items: 80