ZNF516[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC130062608, LOC130062609 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LINC01902, LINC01903 +1005 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC130062712, LOC130062713 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	ACAA2, ADNP2 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	ADNP2, ALPK2 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062692, LOC130062693 +664 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	ADNP2, ALPK2 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC114803473, LOC116276491 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC130062739, LOC130062740 +636 more	Copy number gain	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062684, LOC130062685 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	ADNP2, ALPK2 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	ADNP2, ALPK2 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	LOC126862772, LOC126862773 +450 more	Copy number loss	See cases	GPathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	LOC126862775, LOC126862776 +436 more	Copy number loss	See cases	GPathogenic
Select item 1703234	Single allele	LINC01544, LINC01879 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	LOC126862797, LOC126862798 +430 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 146258	GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	LOC130062747, LOC130062748 +426 more	Copy number loss	See cases	GPathogenic
Select item 60003	GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	KCNG2, KDSR +373 more	Copy number loss	See cases	GPathogenic
Select item 58784	GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3	ADNP2, ATP9B +348 more	Copy number gain	See cases	GPathogenic
Select item 146574	GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1	ADNP2, ATP9B +347 more	Copy number loss	See cases	GPathogenic
Select item 150640	GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1	ADNP2, ATP9B +320 more	Copy number loss	See cases	GPathogenic
Select item 60004	GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1	LOC130062705, LOC130062706 +308 more	Copy number loss	See cases	GPathogenic
Select item 149742	GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1	ADNP2, ATP9B +302 more	Copy number loss	See cases	GPathogenic
Select item 57306	GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1	ADNP2, ATP9B +302 more	Copy number loss	See cases	GPathogenic
Select item 148524	GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1	ADNP2, ATP9B +300 more	Copy number loss	See cases	GPathogenic
Select item 147763	GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1	LOC126862801, LOC126862802 +299 more	Copy number loss	See cases	GPathogenic
Select item 148742	GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1	ADNP2, ATP9B +297 more	Copy number loss	See cases	GPathogenic
Select item 154000	GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1	ADNP2, ATP9B +297 more	Copy number loss	See cases	GPathogenic
Select item 149650	GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1	ADNP2, ATP9B +296 more	Copy number loss	See cases	GPathogenic
Select item 154622	GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3	LOC130062762, LOC130062763 +292 more	Copy number gain	See cases	GPathogenic
Select item 147355	GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1	ADNP2, ATP9B +291 more	Copy number loss	See cases	GPathogenic
Select item 152338	GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1	ADNP2, ATP9B +288 more	Copy number loss	See cases	GPathogenic
Select item 146891	GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1	LOC130062800, LOC130062801 +288 more	Copy number loss	See cases	GPathogenic
Select item 148304	GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1	LOC132211114, LOC284240 +287 more	Copy number loss	See cases	GPathogenic
Select item 148357	GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1	SALL3, SLC66A2 +282 more	Copy number loss	See cases	GPathogenic
Select item 155490	GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1	ADNP2, ATP9B +282 more	Copy number loss	See cases	GPathogenic
Select item 144342	GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1	LOC130062790, LOC130062791 +279 more	Copy number loss	See cases	GPathogenic
Select item 60033	GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1	SALL3, SLC66A2 +279 more	Copy number loss	See cases	GPathogenic
Select item 1684631	Single allele	LINC01922, LINC01927 +279 more	Deletion	Nystagmus +10 more	GPathogenic
Select item 149195	GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1	ADNP2, ATP9B +278 more	Copy number loss	See cases	GPathogenic
Select item 146547	GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1	LOC130062708, LOC130062709 +248 more	Copy number loss	See cases	GPathogenic
Select item 150633	GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3	ADNP2, ATP9B +241 more	Copy number gain	See cases	GPathogenic
Select item 149476	GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1	ADNP2, ATP9B +240 more	Copy number loss	See cases	GPathogenic
Select item 146226	GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1	ADNP2, ATP9B +240 more	Copy number loss	See cases	GPathogenic
Select item 155129	GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1	ADNP2, ATP9B +238 more	Copy number loss	See cases	GPathogenic
Select item 149757	GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x1	ADNP2, ATP9B +230 more	Copy number loss	See cases	GPathogenic
Select item 149756	GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x3	ADNP2, ATP9B +230 more	Copy number gain	See cases	GPathogenic
Select item 60034	GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1	ATP9B, C18orf63 +149 more	Copy number loss	See cases	GPathogenic
Select item 147608	GRCh38/hg38 18q23(chr18:75424051-80224243)x1	ADNP2, ATP9B +160 more	Copy number loss	See cases	GPathogenic
Select item 60035	GRCh38/hg38 18q23(chr18:75843868-80209986)x1	ADNP2, ATP9B +154 more	Copy number loss	See cases	GPathogenic
Select item 152854	GRCh38/hg38 18q23(chr18:75875505-80252090)x1	ADNP2, ATP9B +155 more	Copy number loss	See cases	GPathogenic
Select item 154303	GRCh38/hg38 18q23(chr18:75946906-80252149)x1	ADNP2, ATP9B +155 more	Copy number loss	See cases	GPathogenic
Select item 147749	GRCh38/hg38 18q23(chr18:75988877-80252149)x1	ADNP2, ATP9B +155 more	Copy number loss	See cases	GPathogenic
Select item 2604705	NM_014643.4(ZNF516):c.3214C>A (p.Leu1072Ile)	ZNF516 (L1072I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291098	NM_014643.4(ZNF516):c.3104C>T (p.Ala1035Val)	ZNF516 (A1035V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253396	NM_014643.4(ZNF516):c.3094G>A (p.Val1032Met)	ZNF516 (V1032M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648815	NM_014643.4(ZNF516):c.3066C>T (p.Gly1022=)	ZNF516	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2387299	NM_014643.4(ZNF516):c.3056G>T (p.Gly1019Val)	ZNF516 (G1019V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221028	NM_014643.4(ZNF516):c.3022C>A (p.Gln1008Lys)	ZNF516 (Q1008K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570002	NM_014643.4(ZNF516):c.2980G>A (p.Ala994Thr)	ZNF516 (A994T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648816	NM_014643.4(ZNF516):c.2913G>A (p.Pro971=)	ZNF516	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2354083	NM_014643.4(ZNF516):c.2795C>T (p.Thr932Met)	ZNF516 (T932M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467944	NM_014643.4(ZNF516):c.2762G>A (p.Gly921Asp)	ZNF516 (G921D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408074	NM_014643.4(ZNF516):c.2745A>C (p.Lys915Asn)	ZNF516 (K915N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408073	NM_014643.4(ZNF516):c.2720A>C (p.Lys907Thr)	ZNF516 (K907T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346987	NM_014643.4(ZNF516):c.2706G>C (p.Gln902His)	ZNF516 (Q902H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273220	NM_014643.4(ZNF516):c.2699C>T (p.Ala900Val)	ZNF516 (A900V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722417	NM_014643.4(ZNF516):c.2626G>T (p.Ala876Ser)	ZNF516 (A876S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2292349	NM_014643.4(ZNF516):c.2623T>C (p.Cys875Arg)	ZNF516 (C875R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527001	NM_014643.4(ZNF516):c.2510G>A (p.Arg837His)	ZNF516 (R837H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514096	NM_014643.4(ZNF516):c.2396G>A (p.Gly799Asp)	ZNF516 (G799D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376558	NM_014643.4(ZNF516):c.2363A>G (p.Asn788Ser)	ZNF516 (N788S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2623010	NM_014643.4(ZNF516):c.2360G>A (p.Cys787Tyr)	ZNF516 (C787Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471099	NM_014643.4(ZNF516):c.2338C>T (p.Arg780Cys)	ZNF516 (R780C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214736	NM_014643.4(ZNF516):c.2264C>T (p.Ala755Val)	ZNF516 (A755V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539409	NM_014643.4(ZNF516):c.2252C>T (p.Ser751Phe)	ZNF516 (S751F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214935	NM_014643.4(ZNF516):c.2242G>A (p.Glu748Lys)	ZNF516 (E748K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352908	NM_014643.4(ZNF516):c.2236A>G (p.Asn746Asp)	ZNF516 (N746D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488229	NM_014643.4(ZNF516):c.2213G>A (p.Arg738Lys)	ZNF516 (R738K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612085	NM_014643.4(ZNF516):c.2192T>C (p.Met731Thr)	ZNF516 (M731T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405523	NM_014643.4(ZNF516):c.2188C>T (p.Leu730Phe)	ZNF516 (L730F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333829	NM_014643.4(ZNF516):c.2173G>A (p.Ala725Thr)	ZNF516 (A725T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490115	NM_014643.4(ZNF516):c.2156C>T (p.Ser719Phe)	ZNF516 (S719F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608638	NM_014643.4(ZNF516):c.2152C>T (p.His718Tyr)	ZNF516 (H718Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205255	NM_014643.4(ZNF516):c.2127G>T (p.Lys709Asn)	ZNF516 (K709N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205505	NM_014643.4(ZNF516):c.2090C>T (p.Thr697Met)	ZNF516 (T697M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356040	NM_014643.4(ZNF516):c.2056G>A (p.Val686Ile)	ZNF516 (V686I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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