ZNF528[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 3196490	NM_032423.3(ZNF528):c.56A>G (p.Gln19Arg)	ZNF528 (Q19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258556	NM_032423.3(ZNF528):c.80C>T (p.Pro27Leu)	ZNF528 (P27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782628	NM_032423.3(ZNF528):c.83C>T (p.Ala28Val)	ZNF528 (A28V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3258559	NM_032423.3(ZNF528):c.164G>A (p.Ser55Asn)	ZNF528 (S55N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258558	NM_032423.3(ZNF528):c.170C>G (p.Thr57Ser)	ZNF528 (T57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528289	NM_032423.3(ZNF528):c.185A>G (p.Gln62Arg)	ZNF528 (Q62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340126	NM_032423.3(ZNF528):c.231C>A (p.Asn77Lys)	ZNF528 (N77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314762	NM_032423.3(ZNF528):c.309G>T (p.Lys103Asn)	ZNF528 (K103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297464	NM_032423.3(ZNF528):c.317A>C (p.Lys106Thr)	ZNF528 (K106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258560	NM_032423.3(ZNF528):c.349C>G (p.Leu117Val)	ZNF528 (L117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236458	NM_032423.3(ZNF528):c.373G>T (p.Ala125Ser)	ZNF528 (A125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771528	NM_032423.3(ZNF528):c.381del (p.Ile129fs)	ZNF528 (I129fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 3196489	NM_032423.3(ZNF528):c.437C>T (p.Ser146Leu)	ZNF528 (S146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371932	NM_032423.3(ZNF528):c.449A>C (p.Lys150Thr)	ZNF528 (K150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258557	NM_032423.3(ZNF528):c.565A>C (p.Asn189His)	ZNF528 (N189H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397452	NM_032423.3(ZNF528):c.589G>A (p.Ala197Thr)	ZNF528 (A197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196491	NM_032423.3(ZNF528):c.697A>G (p.Arg233Gly)	ZNF528 (R233G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343773	NM_032423.3(ZNF528):c.758A>G (p.Asn253Ser)	ZNF528 (N253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196492	NM_032423.3(ZNF528):c.769T>C (p.Ser257Pro)	ZNF528 (S257P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322295	NM_032423.3(ZNF528):c.788A>G (p.His263Arg)	ZNF528 (H263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370224	NM_032423.3(ZNF528):c.836G>A (p.Arg279Gln)	ZNF528 (R279Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553644	NM_032423.3(ZNF528):c.882G>T (p.Glu294Asp)	ZNF528 (E294D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553069	NM_032423.3(ZNF528):c.932A>G (p.His311Arg)	ZNF528 (H311R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343401	NM_032423.3(ZNF528):c.967A>G (p.Lys323Glu)	ZNF528 (K323E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552138	NM_032423.3(ZNF528):c.1006C>T (p.Arg336Cys)	ZNF528 (R336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270954	NM_032423.3(ZNF528):c.1031A>C (p.Gln344Pro)	ZNF528 (Q344P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319940	NM_032423.3(ZNF528):c.1043C>T (p.Thr348Ile)	ZNF528 (T348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718690	NM_032423.3(ZNF528):c.1059C>G (p.Tyr353Ter)	ZNF528 (Y353*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2213292	NM_032423.3(ZNF528):c.1153G>C (p.Glu385Gln)	ZNF528 (E385Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258554	NM_032423.3(ZNF528):c.1160A>G (p.Asp387Gly)	ZNF528 (D387G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398880	NM_032423.3(ZNF528):c.1175G>A (p.Arg392His)	ZNF528 (R392H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533251	NM_032423.3(ZNF528):c.1184T>C (p.Phe395Ser)	ZNF528 (F395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196482	NM_032423.3(ZNF528):c.1190C>T (p.Thr397Ile)	ZNF528 (T397I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461332	NM_032423.3(ZNF528):c.1213A>G (p.Arg405Gly)	ZNF528 (R405G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786358	NM_032423.3(ZNF528):c.1216G>A (p.Glu406Lys)	ZNF528 (E406K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2313209	NM_032423.3(ZNF528):c.1243G>A (p.Gly415Ser)	ZNF528 (G415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778175	NM_032423.3(ZNF528):c.1282C>T (p.Arg428Ter)	ZNF528 (R428*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 3258555	NM_032423.3(ZNF528):c.1342G>A (p.Glu448Lys)	ZNF528 (E448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196483	NM_032423.3(ZNF528):c.1376A>G (p.His459Arg)	ZNF528 (H459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283633	NM_032423.3(ZNF528):c.1394A>G (p.Tyr465Cys)	ZNF528 (Y465C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253914	NM_032423.3(ZNF528):c.1448A>G (p.His483Arg)	ZNF528 (H483R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196484	NM_032423.3(ZNF528):c.1482A>C (p.Lys494Asn)	ZNF528 (K494N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459499	NM_032423.3(ZNF528):c.1494T>G (p.Cys498Trp)	ZNF528 (C498W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206282	NM_032423.3(ZNF528):c.1510C>T (p.Arg504Cys)	ZNF528 (R504C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782629	NM_032423.3(ZNF528):c.1519A>T (p.Asn507Tyr)	ZNF528 (N507Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2239916	NM_032423.3(ZNF528):c.1576T>A (p.Cys526Ser)	ZNF528 (C526S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258561	NM_032423.3(ZNF528):c.1577G>A (p.Cys526Tyr)	ZNF528 (C526Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621335	NM_032423.3(ZNF528):c.1609A>G (p.Thr537Ala)	ZNF528 (T537A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374900	NM_032423.3(ZNF528):c.1619A>G (p.Gln540Arg)	ZNF528 (Q540R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209684	NM_032423.3(ZNF528):c.1653T>G (p.Cys551Trp)	ZNF528 (C551W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409520	NM_032423.3(ZNF528):c.1679G>A (p.Gly560Glu)	ZNF528 (G560E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468688	NM_032423.3(ZNF528):c.1699C>T (p.His567Tyr)	ZNF528 (H567Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196485	NM_032423.3(ZNF528):c.1764G>C (p.Gln588His)	ZNF528 (Q588H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196486	NM_032423.3(ZNF528):c.1810C>A (p.Pro604Thr)	ZNF528 (P604T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552555	NM_032423.3(ZNF528):c.1825C>G (p.Leu609Val)	ZNF528 (L609V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196487	NM_032423.3(ZNF528):c.1831A>G (p.Ser611Gly)	ZNF528 (S611G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196488	NM_032423.3(ZNF528):c.1841T>A (p.Phe614Tyr)	ZNF528 (F614Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1340089	GRCh37/hg19 19q13.41(chr19:52831841-52924163)x1	ZNF610, ZNF528 +2 more	Copy number loss	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 564577	GRCh37/hg19 19q13.41(chr19:52831840-52914293)x1	ZNF83, ZNF528 +2 more	Copy number loss	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 253924	GRCh37/hg19 19q13.41(chr19:52825019-53017595)x1	ZNF480, ZNF528 +5 more	Copy number loss	See cases	GUncertain significance

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Items: 75