ZNF256[gene] - ClinVar

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Items: 63

	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 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 150291	GRCh38/hg38 19q13.43(chr19:57712726-57952004)x3	LOC125384550, LOC126862947 +23 more	Copy number gain	See cases	GLikely benign
Select item 2460503	NM_005773.3(ZNF256):c.1870G>A (p.Val624Ile)	ZNF256 (V624I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194710	NM_005773.3(ZNF256):c.1825G>A (p.Gly609Arg)	ZNF256 (G609R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261047	NM_005773.3(ZNF256):c.1813T>C (p.Cys605Arg)	ZNF256 (C452R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194709	NM_005773.3(ZNF256):c.1779C>G (p.His593Gln)	ZNF256 (H593Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194708	NM_005773.3(ZNF256):c.1774A>G (p.Asn592Asp)	ZNF256 (N592D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531797	NM_005773.3(ZNF256):c.1762T>A (p.Ser588Thr)	ZNF256 (S588T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194706	NM_005773.3(ZNF256):c.1706A>G (p.His569Arg)	ZNF256 (H416R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605511	NM_005773.3(ZNF256):c.1697G>A (p.Arg566Gln)	ZNF256 (R566Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595706	NM_005773.3(ZNF256):c.1687G>A (p.Val563Ile)	ZNF256 (V563I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194705	NM_005773.3(ZNF256):c.1651G>A (p.Glu551Lys)	ZNF256 (E551K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264531	NM_005773.3(ZNF256):c.1589A>G (p.Gln530Arg)	ZNF256 (Q530R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492870	NM_005773.3(ZNF256):c.1586G>C (p.Ser529Thr)	ZNF256 (S376T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194704	NM_005773.3(ZNF256):c.1446G>C (p.Trp482Cys)	ZNF256 (W482C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260803	NM_005773.3(ZNF256):c.1261C>T (p.Arg421Cys)	ZNF256 (R268C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482726	NM_005773.3(ZNF256):c.1234T>C (p.Cys412Arg)	ZNF256 (C412R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194702	NM_005773.3(ZNF256):c.1196G>A (p.Arg399Lys)	ZNF256 (R246K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194701	NM_005773.3(ZNF256):c.1193G>A (p.Arg398Gln)	ZNF256 (R245Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2230019	NM_005773.3(ZNF256):c.947T>G (p.Val316Gly)	ZNF256 (V316G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194713	NM_005773.3(ZNF256):c.910T>A (p.Phe304Ile)	ZNF256 (F151I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335269	NM_005773.3(ZNF256):c.899G>A (p.Cys300Tyr)	ZNF256 (C147Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294868	NM_005773.3(ZNF256):c.736A>G (p.Lys246Glu)	ZNF256 (K93E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233738	NM_005773.3(ZNF256):c.720G>T (p.Met240Ile)	ZNF256 (M240I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335268	NM_005773.3(ZNF256):c.710G>T (p.Arg237Ile)	ZNF256 (R84I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194712	NM_005773.3(ZNF256):c.710G>A (p.Arg237Lys)	ZNF256 (R84K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335267	NM_005773.3(ZNF256):c.670C>T (p.His224Tyr)	ZNF256 (H71Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194711	NM_005773.3(ZNF256):c.664T>A (p.Tyr222Asn)	ZNF256 (Y222N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607813	NM_005773.3(ZNF256):c.599G>C (p.Ser200Thr)	ZNF256 (S200T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494999	NM_005773.3(ZNF256):c.536T>C (p.Val179Ala)	ZNF256 (V179A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493057	NM_005773.3(ZNF256):c.445A>G (p.Asn149Asp)	ZNF256 (N149D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2558874	NM_005773.3(ZNF256):c.361G>A (p.Gly121Arg)	ZNF256 (G121R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2214113	NM_005773.3(ZNF256):c.286G>A (p.Gly96Ser)	ZNF256 (G96S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2380736	NM_005773.3(ZNF256):c.218G>A (p.Arg73Gln)	ZNF256 (R73Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2355090	NM_005773.3(ZNF256):c.190C>T (p.Pro64Ser)	ZNF256 (P64S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2525160	NM_005773.3(ZNF256):c.178G>A (p.Asp60Asn)	ZNF256 (D60N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2289472	NM_005773.3(ZNF256):c.173C>T (p.Ala58Val)	ZNF256 (A58V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3194703	NM_005773.3(ZNF256):c.141G>C (p.Leu47Phe)	ZNF256 (L47F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2263937	NM_005773.3(ZNF256):c.141G>T (p.Leu47Phe)	ZNF256 (L47F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2350144	NM_005773.3(ZNF256):c.110G>C (p.Cys37Ser)	ZNF256 (C37S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469293	NM_005773.3(ZNF256):c.62T>C (p.Val21Ala)	ZNF256 (V21A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614953	NM_005773.3(ZNF256):c.5C>A (p.Ala2Glu)	ZNF256 (A2E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 689096	GRCh37/hg19 19q13.43(chr19:58369898-58590859)x3	C19orf18, ZNF135 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688389	GRCh37/hg19 19q13.43(chr19:58092045-58686148)x3	C19orf18, ZIK1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 687845	GRCh37/hg19 19q13.43(chr19:58369898-58590924)x3	C19orf18, ZNF135 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685397	GRCh37/hg19 19q13.43(chr19:57952073-58661581)x3	C19orf18, VN1R1 +29 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564595	GRCh37/hg19 19q13.43(chr19:57891243-58536930)x3	ZNF814, ZSCAN4 +27 more	Copy number gain	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 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
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 253827	GRCh37/hg19 19q13.43(chr19:58458999-58929684)x3	ZNF329, ZNF135 +14 more	Copy number gain	See cases	GUncertain significance

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Items: 63