ZNF518A[gene] - ClinVar - NCBI

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	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	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 3196409	NM_001330736.2(ZNF518A):c.80T>C (p.Ile27Thr)	ZNF518A (I27T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521482	NM_001330736.2(ZNF518A):c.152A>T (p.Asp51Val)	ZNF518A (D51V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196392	NM_001330736.2(ZNF518A):c.193C>T (p.His65Tyr)	ZNF518A (H65Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508230	NM_001330736.2(ZNF518A):c.256A>C (p.Ser86Arg)	ZNF518A (S86R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238905	NM_001330736.2(ZNF518A):c.259A>G (p.Ile87Val)	ZNF518A (I87V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2290611	NM_001330736.2(ZNF518A):c.285G>C (p.Glu95Asp)	ZNF518A (E95D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485109	NM_001330736.2(ZNF518A):c.289A>T (p.Thr97Ser)	ZNF518A (T97S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196404	NM_001330736.2(ZNF518A):c.383C>A (p.Thr128Asn)	ZNF518A (T128N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196405	NM_001330736.2(ZNF518A):c.467A>G (p.Asn156Ser)	ZNF518A (N156S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3196406	NM_001330736.2(ZNF518A):c.509G>A (p.Arg170Gln)	ZNF518A (R170Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516303	NM_001330736.2(ZNF518A):c.551A>G (p.Asn184Ser)	ZNF518A (N184S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196407	NM_001330736.2(ZNF518A):c.559G>A (p.Val187Ile)	ZNF518A (V187I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211926	NM_001330736.2(ZNF518A):c.633G>T (p.Lys211Asn)	ZNF518A (K211N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196408	NM_001330736.2(ZNF518A):c.676A>G (p.Ile226Val)	ZNF518A (I226V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196410	NM_001330736.2(ZNF518A):c.826C>A (p.His276Asn)	ZNF518A (H276N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196411	NM_001330736.2(ZNF518A):c.847A>G (p.Thr283Ala)	ZNF518A (T283A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330109	NM_001330736.2(ZNF518A):c.871G>A (p.Ala291Thr)	ZNF518A (A291T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461493	NM_001330736.2(ZNF518A):c.893A>G (p.Asp298Gly)	ZNF518A (D298G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369008	NM_001330736.2(ZNF518A):c.974A>G (p.Lys325Arg)	ZNF518A (K325R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196412	NM_001330736.2(ZNF518A):c.977C>T (p.Thr326Met)	ZNF518A (T326M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196413	NM_001330736.2(ZNF518A):c.989G>A (p.Arg330His)	ZNF518A (R330H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560851	NM_001330736.2(ZNF518A):c.1016G>A (p.Arg339Lys)	ZNF518A (R339K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302839	NM_001330736.2(ZNF518A):c.1082A>G (p.Gln361Arg)	ZNF518A (Q361R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196385	NM_001330736.2(ZNF518A):c.1085G>A (p.Ser362Asn)	ZNF518A (S362N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516728	NM_001330736.2(ZNF518A):c.1148A>G (p.Asp383Gly)	ZNF518A (D383G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554690	NM_001330736.2(ZNF518A):c.1181C>T (p.Thr394Ile)	ZNF518A (T394I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196386	NM_001330736.2(ZNF518A):c.1186C>G (p.Leu396Val)	ZNF518A (L396V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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)	not specified	GLikely benign
Select item 2250077	NM_001330736.2(ZNF518A):c.1429G>A (p.Ala477Thr)	ZNF518A (A477T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258511	NM_001330736.2(ZNF518A):c.1438G>T (p.Gly480Cys)	ZNF518A (G480C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301222	NM_001330736.2(ZNF518A):c.1462A>G (p.Thr488Ala)	ZNF518A (T488A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196387	NM_001330736.2(ZNF518A):c.1560A>G (p.Ile520Met)	ZNF518A (I520M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491528	NM_001330736.2(ZNF518A):c.1579T>C (p.Ser527Pro)	ZNF518A (S527P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258507	NM_001330736.2(ZNF518A):c.1593G>A (p.Met531Ile)	ZNF518A (M531I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597558	NM_001330736.2(ZNF518A):c.1654T>A (p.Ser552Thr)	ZNF518A (S22T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258509	NM_001330736.2(ZNF518A):c.1672G>A (p.Glu558Lys)	ZNF518A (E28K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196388	NM_001330736.2(ZNF518A):c.1721A>G (p.Asp574Gly)	ZNF518A (D574G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561248	NM_001330736.2(ZNF518A):c.1724A>T (p.Asn575Ile)	ZNF518A (N575I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196389	NM_001330736.2(ZNF518A):c.1757G>T (p.Ser586Ile)	ZNF518A (S56I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303386	NM_001330736.2(ZNF518A):c.1786A>G (p.Lys596Glu)	ZNF518A (K596E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196390	NM_001330736.2(ZNF518A):c.1834A>G (p.Ser612Gly)	ZNF518A (S612G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196391	NM_001330736.2(ZNF518A):c.1870A>G (p.Asn624Asp)	ZNF518A (N94D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258506	NM_001330736.2(ZNF518A):c.1955G>A (p.Arg652His)	ZNF518A (R652H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406256	NM_001330736.2(ZNF518A):c.1958G>A (p.Arg653Lys)	ZNF518A (R123K +1 more)	Single nucleotide variant (missense variant)	not specified	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 3196393	NM_001330736.2(ZNF518A):c.2012A>G (p.Lys671Arg)	ZNF518A (K671R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196394	NM_001330736.2(ZNF518A):c.2081A>G (p.Asp694Gly)	ZNF518A (D694G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640726	NM_001330736.2(ZNF518A):c.2094A>G (p.Ala698=)	ZNF518A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3258508	NM_001330736.2(ZNF518A):c.2122G>A (p.Gly708Arg)	ZNF518A (G178R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539617	NM_001330736.2(ZNF518A):c.2279T>C (p.Met760Thr)	ZNF518A (M760T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523733	NM_001330736.2(ZNF518A):c.2365G>A (p.Asp789Asn)	ZNF518A (D789N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369958	NM_001330736.2(ZNF518A):c.2407A>G (p.Asn803Asp)	ZNF518A (N273D +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2610846	NM_001330736.2(ZNF518A):c.2540G>T (p.Gly847Val)	ZNF518A (G317V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196395	NM_001330736.2(ZNF518A):c.2551C>T (p.Pro851Ser)	ZNF518A (P851S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510884	NM_001330736.2(ZNF518A):c.2587A>G (p.Lys863Glu)	ZNF518A (K863E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196396	NM_001330736.2(ZNF518A):c.2838C>A (p.Asn946Lys)	ZNF518A (N946K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196397	NM_001330736.2(ZNF518A):c.2947A>C (p.Asn983His)	ZNF518A (N983H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258503	NM_001330736.2(ZNF518A):c.3001C>T (p.Arg1001Cys)	ZNF518A (R1001C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375618	NM_001330736.2(ZNF518A):c.3044A>C (p.Lys1015Thr)	ZNF518A (K1015T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569764	NM_001330736.2(ZNF518A):c.3059A>G (p.Asn1020Ser)	ZNF518A (N490S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258505	NM_001330736.2(ZNF518A):c.3142A>G (p.Lys1048Glu)	ZNF518A (K1048E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227792	NM_001330736.2(ZNF518A):c.3230A>G (p.Asn1077Ser)	ZNF518A (N1077S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258504	NM_001330736.2(ZNF518A):c.3233T>C (p.Ile1078Thr)	ZNF518A (I1078T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245294	NM_001330736.2(ZNF518A):c.3301G>T (p.Gly1101Cys)	ZNF518A (G571C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258510	NM_001330736.2(ZNF518A):c.3404A>C (p.Lys1135Thr)	ZNF518A (K605T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265687	NM_001330736.2(ZNF518A):c.3421C>G (p.Gln1141Glu)	ZNF518A (Q611E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196398	NM_001330736.2(ZNF518A):c.3426A>C (p.Arg1142Ser)	ZNF518A (R612S +1 more)	Single nucleotide variant (missense variant)	not specified	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 3196399	NM_001330736.2(ZNF518A):c.3509A>C (p.Gln1170Pro)	ZNF518A (Q640P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196400	NM_001330736.2(ZNF518A):c.3512A>G (p.Lys1171Arg)	ZNF518A (K641R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196401	NM_001330736.2(ZNF518A):c.3518A>G (p.Asn1173Ser)	ZNF518A (N643S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289038	NM_001330736.2(ZNF518A):c.3538A>T (p.Ile1180Leu)	ZNF518A (I1180L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475449	NM_001330736.2(ZNF518A):c.3552G>C (p.Gln1184His)	ZNF518A (Q1184H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319466	NM_001330736.2(ZNF518A):c.3657G>T (p.Glu1219Asp)	ZNF518A (E1219D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545546	NM_001330736.2(ZNF518A):c.3664A>C (p.Ile1222Leu)	ZNF518A (I692L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196402	NM_001330736.2(ZNF518A):c.3666A>G (p.Ile1222Met)	ZNF518A (I692M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213081	NM_001330736.2(ZNF518A):c.3686A>C (p.Glu1229Ala)	ZNF518A (E1229A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196403	NM_001330736.2(ZNF518A):c.3782A>T (p.His1261Leu)	ZNF518A (H1261L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623946	NM_001330736.2(ZNF518A):c.3832A>C (p.Lys1278Gln)	ZNF518A (K1278Q +1 more)	Single nucleotide variant (missense variant)	not specified	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 +1 more	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)	BLNK, ZNF518A (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

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