ZNF518A[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 159

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 2521482	NM_001330736.2(ZNF518A):c.152A>T (p.Asp51Val)	ZNF518A (D51V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508230	NM_001330736.2(ZNF518A):c.256A>C (p.Ser86Arg)	ZNF518A (S86R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238905	NM_001330736.2(ZNF518A):c.259A>G (p.Ile87Val)	ZNF518A (I87V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2290611	NM_001330736.2(ZNF518A):c.285G>C (p.Glu95Asp)	ZNF518A (E95D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485109	NM_001330736.2(ZNF518A):c.289A>T (p.Thr97Ser)	ZNF518A (T97S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516303	NM_001330736.2(ZNF518A):c.551A>G (p.Asn184Ser)	ZNF518A (N184S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211926	NM_001330736.2(ZNF518A):c.633G>T (p.Lys211Asn)	ZNF518A (K211N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330109	NM_001330736.2(ZNF518A):c.871G>A (p.Ala291Thr)	ZNF518A (A291T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461493	NM_001330736.2(ZNF518A):c.893A>G (p.Asp298Gly)	ZNF518A (D298G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369008	NM_001330736.2(ZNF518A):c.974A>G (p.Lys325Arg)	ZNF518A (K325R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560851	NM_001330736.2(ZNF518A):c.1016G>A (p.Arg339Lys)	ZNF518A (R339K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302839	NM_001330736.2(ZNF518A):c.1082A>G (p.Gln361Arg)	ZNF518A (Q361R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516728	NM_001330736.2(ZNF518A):c.1148A>G (p.Asp383Gly)	ZNF518A (D383G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554690	NM_001330736.2(ZNF518A):c.1181C>T (p.Thr394Ile)	ZNF518A (T394I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2640724	NM_001330736.2(ZNF518A):c.1228G>A (p.Ala410Thr)	ZNF518A (A410T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2311872	NM_001330736.2(ZNF518A):c.1279G>T (p.Val427Leu)	ZNF518A (V427L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2250077	NM_001330736.2(ZNF518A):c.1429G>A (p.Ala477Thr)	ZNF518A (A477T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301222	NM_001330736.2(ZNF518A):c.1462A>G (p.Thr488Ala)	ZNF518A (T488A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491528	NM_001330736.2(ZNF518A):c.1579T>C (p.Ser527Pro)	ZNF518A (S527P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597558	NM_001330736.2(ZNF518A):c.1654T>A (p.Ser552Thr)	ZNF518A (S22T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561248	NM_001330736.2(ZNF518A):c.1724A>T (p.Asn575Ile)	ZNF518A (N575I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303386	NM_001330736.2(ZNF518A):c.1786A>G (p.Lys596Glu)	ZNF518A (K596E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406256	NM_001330736.2(ZNF518A):c.1958G>A (p.Arg653Lys)	ZNF518A (R123K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640725	NM_001330736.2(ZNF518A):c.2010C>T (p.Ser670=)	ZNF518A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640726	NM_001330736.2(ZNF518A):c.2094A>G (p.Ala698=)	ZNF518A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539617	NM_001330736.2(ZNF518A):c.2279T>C (p.Met760Thr)	ZNF518A (M760T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523733	NM_001330736.2(ZNF518A):c.2365G>A (p.Asp789Asn)	ZNF518A (D789N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369958	NM_001330736.2(ZNF518A):c.2407A>G (p.Asn803Asp)	ZNF518A (N273D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640727	NM_001330736.2(ZNF518A):c.2435A>G (p.His812Arg)	ZNF518A (H282R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2301666	NM_001330736.2(ZNF518A):c.2489C>T (p.Ser830Leu)	ZNF518A (S830L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610846	NM_001330736.2(ZNF518A):c.2540G>T (p.Gly847Val)	ZNF518A (G317V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510884	NM_001330736.2(ZNF518A):c.2587A>G (p.Lys863Glu)	ZNF518A (K863E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375618	NM_001330736.2(ZNF518A):c.3044A>C (p.Lys1015Thr)	ZNF518A (K1015T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569764	NM_001330736.2(ZNF518A):c.3059A>G (p.Asn1020Ser)	ZNF518A (N490S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2227792	NM_001330736.2(ZNF518A):c.3230A>G (p.Asn1077Ser)	ZNF518A (N1077S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245294	NM_001330736.2(ZNF518A):c.3301G>T (p.Gly1101Cys)	ZNF518A (G571C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265687	NM_001330736.2(ZNF518A):c.3421C>G (p.Gln1141Glu)	ZNF518A (Q611E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640728	NM_001330736.2(ZNF518A):c.3501C>G (p.Ser1167=)	ZNF518A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2289038	NM_001330736.2(ZNF518A):c.3538A>T (p.Ile1180Leu)	ZNF518A (I1180L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475449	NM_001330736.2(ZNF518A):c.3552G>C (p.Gln1184His)	ZNF518A (Q1184H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319466	NM_001330736.2(ZNF518A):c.3657G>T (p.Glu1219Asp)	ZNF518A (E1219D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545546	NM_001330736.2(ZNF518A):c.3664A>C (p.Ile1222Leu)	ZNF518A (I692L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213081	NM_001330736.2(ZNF518A):c.3686A>C (p.Glu1229Ala)	ZNF518A (E1229A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623946	NM_001330736.2(ZNF518A):c.3832A>C (p.Lys1278Gln)	ZNF518A (K1278Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640729	NM_001330736.2(ZNF518A):c.4212C>A (p.Ser1404=)	ZNF518A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963819	NM_013314.4(BLNK):c.1369T>C (p.Ter457Gln)	BLNK, ZNF518A	Single nucleotide variant (stop lost +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1913756	NM_013314.4(BLNK):c.1351T>A (p.Tyr451Asn)	BLNK, ZNF518A (Y294N +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1426025	NM_013314.4(BLNK):c.1351T>C (p.Tyr451His)	BLNK, ZNF518A (Y376H +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2135600	NM_013314.4(BLNK):c.1321A>T (p.Asn441Tyr)	BLNK, ZNF518A (N441Y +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2260935	NM_013314.4(BLNK):c.1319A>G (p.Gln440Arg)	BLNK, ZNF518A (Q283R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1360979	NM_013314.4(BLNK):c.1316G>A (p.Ser439Asn)	BLNK, ZNF518A (S282N +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive +1 more	GUncertain significance
Select item 1478872	NM_013314.4(BLNK):c.1313A>G (p.Asp438Gly)	BLNK, ZNF518A (D363G +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2161874	NM_013314.4(BLNK):c.1303G>A (p.Val435Ile)	BLNK, ZNF518A (V435I +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1355642	NM_013314.4(BLNK):c.1302G>T (p.Leu434Phe)	BLNK, ZNF518A (L434F +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2152467	NM_013314.4(BLNK):c.1291C>A (p.His431Asn)	ZNF518A, BLNK (H274N +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1143985	NM_013314.4(BLNK):c.1287T>C (p.His429=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1135132	NM_013314.4(BLNK):c.1281G>A (p.Arg427=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1006433	NM_013314.4(BLNK):c.1276A>T (p.Ile426Phe)	BLNK, ZNF518A (I269F +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2178962	NM_013314.4(BLNK):c.1252-3T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 730500	NM_013314.4(BLNK):c.1252-4C>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1662416	NM_013314.4(BLNK):c.1252-17A>G	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1224035	NM_013314.4(BLNK):c.1252-234_1252-231del	BLNK, ZNF518A	Deletion (intron variant)	not provided	GBenign
Select item 3067561	NM_013314.4(BLNK):c.1252-1139T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977512	NM_013314.4(BLNK):c.1251+13T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1055900	NM_013314.4(BLNK):c.1244G>C (p.Gly415Ala)	BLNK, ZNF518A (G392A +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 750201	NM_013314.4(BLNK):c.1230C>A (p.Gly410=)	ZNF518A, BLNK	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 78124	NM_013314.4(BLNK):c.1196G>A (p.Arg399Gln)	BLNK, ZNF518A (R399Q +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2170657	NM_013314.4(BLNK):c.1195C>A (p.Arg399=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1072783	NM_013314.4(BLNK):c.1195C>T (p.Arg399Ter)	BLNK, ZNF518A (R376* +1 more)	Single nucleotide variant (nonsense +2 more)	Agammaglobulinemia 4, autosomal recessive	GPathogenic
Select item 2920339	NM_013314.4(BLNK):c.1173G>A (p.Lys391=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 751678	NM_013314.4(BLNK):c.1125T>A (p.Ser375=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2744630	NM_013314.4(BLNK):c.1121G>A (p.Ser374Asn)	BLNK, ZNF518A (S351N +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1442757	NM_013314.4(BLNK):c.1115G>A (p.Arg372Gln)	BLNK, ZNF518A (R349Q +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 439435	NM_013314.4(BLNK):c.1114C>T (p.Arg372Trp)	BLNK, ZNF518A (R372W +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive +1 more	GUncertain significance
Select item 2090295	NM_013314.4(BLNK):c.1112T>C (p.Ile371Thr)	BLNK, ZNF518A (I348T +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1577262	NM_013314.4(BLNK):c.1110T>C (p.Leu370=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 854980	NM_013314.4(BLNK):c.1106T>A (p.Phe369Tyr)	BLNK, ZNF518A (F346Y +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1059928	NM_013314.4(BLNK):c.1098T>G (p.Asp366Glu)	BLNK, ZNF518A (D343E +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2896087	NM_013314.4(BLNK):c.1096-6A>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2735569	NM_013314.4(BLNK):c.1096-9dup	BLNK, ZNF518A	Duplication (intron variant)	Agammaglobulinemia 4, autosomal recessive	GBenign
Select item 1170312	NM_013314.4(BLNK):c.1096-11A>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166205	NM_013314.4(BLNK):c.1096-16A>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GBenign
Select item 1671458	NM_013314.4(BLNK):c.1096-17T>A	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1593707	NM_013314.4(BLNK):c.1096-17del	BLNK, ZNF518A	Deletion (intron variant)	Agammaglobulinemia 4, autosomal recessive	GBenign
Select item 1234087	NM_013314.4(BLNK):c.1096-83G>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274728	NM_013314.4(BLNK):c.1095+195G>A	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274806	NM_013314.4(BLNK):c.1095+65_1095+67del	BLNK, ZNF518A	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 1116512	NM_013314.4(BLNK):c.1041T>C (p.Tyr347=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2271534	NM_013314.4(BLNK):c.1034C>T (p.Pro345Leu)	ZNF518A, BLNK (P345L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 966331	NM_013314.4(BLNK):c.1033C>T (p.Pro345Ser)	BLNK, ZNF518A (P322S +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive +1 more	GUncertain significance
Select item 1075117	NM_013314.4(BLNK):c.1031del (p.Lys344fs)	BLNK, ZNF518A (K239fs +2 more)	Deletion (frameshift variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GPathogenic
Select item 1356004	NM_013314.4(BLNK):c.1027T>G (p.Cys343Gly)	BLNK, ZNF518A (C238G +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 568111	NM_013314.4(BLNK):c.1021G>A (p.Val341Ile)	ZNF518A, BLNK (V341I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 762443	NM_013314.4(BLNK):c.1020C>T (p.Gly340=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2847168	NM_013314.4(BLNK):c.1012-4A>G	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2096692	NM_013314.4(BLNK):c.1012-11C>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1226740	NM_013314.4(BLNK):c.1012-155T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2