ZNF354B[gene] - ClinVar

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Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 3195371	NM_058230.3(ZNF354B):c.90G>T (p.Lys30Asn)	ZNF354B (K30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195364	NM_058230.3(ZNF354B):c.119G>A (p.Arg40Gln)	ZNF354B (R40Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3335586	NM_058230.3(ZNF354B):c.129G>A (p.Met43Ile)	ZNF354B (M43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598923	NM_058230.3(ZNF354B):c.218G>T (p.Trp73Leu)	ZNF354B (W73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615160	NM_058230.3(ZNF354B):c.234C>G (p.Asp78Glu)	ZNF354B (D78E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527326	NM_058230.3(ZNF354B):c.239C>T (p.Ser80Phe)	ZNF354B (S80F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260879	NM_058230.3(ZNF354B):c.353A>G (p.Asn118Ser)	ZNF354B (N118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335585	NM_058230.3(ZNF354B):c.406G>A (p.Asp136Asn)	ZNF354B (D136N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276369	NM_058230.3(ZNF354B):c.425A>C (p.Gln142Pro)	ZNF354B (Q142P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195367	NM_058230.3(ZNF354B):c.457A>C (p.Thr153Pro)	ZNF354B (T153P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195368	NM_058230.3(ZNF354B):c.538G>C (p.Ala180Pro)	ZNF354B (A180P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195369	NM_058230.3(ZNF354B):c.605T>A (p.Leu202His)	ZNF354B (L202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459907	NM_058230.3(ZNF354B):c.638G>A (p.Arg213His)	ZNF354B (R213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195370	NM_058230.3(ZNF354B):c.698A>G (p.Gln233Arg)	ZNF354B (Q233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358157	NM_058230.3(ZNF354B):c.785G>T (p.Arg262Ile)	ZNF354B (R262I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239913	NM_058230.3(ZNF354B):c.824G>C (p.Cys275Ser)	ZNF354B (C275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372911	NM_058230.3(ZNF354B):c.1108C>T (p.Arg370Cys)	ZNF354B (R370C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377906	NM_058230.3(ZNF354B):c.1109G>A (p.Arg370His)	ZNF354B (R370H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328920	NM_058230.3(ZNF354B):c.1129A>G (p.Thr377Ala)	ZNF354B (T377A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195363	NM_058230.3(ZNF354B):c.1179G>T (p.Gln393His)	ZNF354B (Q393H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312866	NM_058230.3(ZNF354B):c.1183G>C (p.Ala395Pro)	ZNF354B (A395P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207802	NM_058230.3(ZNF354B):c.1205G>A (p.Arg402Lys)	ZNF354B (R402K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484512	NM_058230.3(ZNF354B):c.1219G>A (p.Glu407Lys)	ZNF354B (E407K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601469	NM_058230.3(ZNF354B):c.1271G>A (p.Arg424Gln)	ZNF354B (R424Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491700	NM_058230.3(ZNF354B):c.1316A>C (p.Asn439Thr)	ZNF354B (N439T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3335584	NM_058230.3(ZNF354B):c.1463A>C (p.His488Pro)	ZNF354B (H488P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343102	NM_058230.3(ZNF354B):c.1481A>G (p.Tyr494Cys)	ZNF354B (Y494C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390339	NM_058230.3(ZNF354B):c.1588T>A (p.Ser530Thr)	ZNF354B (S530T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195365	NM_058230.3(ZNF354B):c.1653A>T (p.Lys551Asn)	ZNF354B (K551N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195366	NM_058230.3(ZNF354B):c.1797T>G (p.Ile599Met)	ZNF354B (I599M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476966	NM_058230.3(ZNF354B):c.1834G>A (p.Val612Met)	ZNF354B (V612M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062850	GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	PDLIM7, PFN3 +63 more	Duplication	not provided	GUncertain significance
Select item 2425705	NC_000005.9:g.(?_177031160)_(178414004_?)dup	B4GALT7, CLK4 +13 more	Duplication		GUncertain significance
Select item 1809328	GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3	ADAMTS2, C5orf60 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1809018	GRCh37/hg19 5q35.3(chr5:178125235-178759093)x1	ADAMTS2, GRM6 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527207	GRCh37/hg19 5q35.3(chr5:177954576-180198875)	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 1527206	GRCh37/hg19 5q35.3(chr5:177926393-178613706)	ADAMTS2, CLK4 +8 more	Copy number loss	not specified	GUncertain significance
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 687207	GRCh37/hg19 5q35.3(chr5:177788681-178982549)x3	ADAMTS2, CLK4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 685882	GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3	COL23A1, ADAMTS2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563133	GRCh37/hg19 5q35.3(chr5:177622252-178478398)x1	ZFP2, GRM6 +8 more	Copy number loss	not provided	GUncertain significance
Select item 563132	GRCh37/hg19 5q35.3(chr5:177532379-178306035)x3	CLK4, COL23A1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 563130	GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1	RUFY1, TMED9 +23 more	Copy number loss	not provided	GPathogenic
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 70