ZNF853[gene] - ClinVar

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

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	LINC03073, LOC106783574 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 1342395	NC_000007.14:g.5986941_6669974dup	AIMP2, ANKRD61 +57 more	Duplication	not provided	GUncertain significance
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 152093	GRCh38/hg38 7p22.1(chr7:6213720-6697571)x3	CYTH3, DAGLB +42 more	Copy number gain	See cases	GUncertain significance
Select item 3198860	NM_017560.3(ZNF853):c.4C>G (p.Leu2Val)	ZNF853 (L2V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2549738	NM_017560.3(ZNF853):c.28C>T (p.Arg10Trp)	ZNF853 (R10W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3198859	NM_017560.3(ZNF853):c.29G>A (p.Arg10Gln)	ZNF853 (R10Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2400286	NM_017560.3(ZNF853):c.32G>T (p.Gly11Val)	ZNF853 (G11V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2354965	NM_017560.3(ZNF853):c.40G>A (p.Ala14Thr)	ZNF853 (A14T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3198862	NM_017560.3(ZNF853):c.67G>A (p.Glu23Lys)	ZNF853 (E23K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198863	NM_017560.3(ZNF853):c.76G>A (p.Val26Met)	ZNF853 (V11M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494911	NM_017560.3(ZNF853):c.97G>A (p.Glu33Lys)	ZNF853 (E18K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619972	NM_017560.3(ZNF853):c.245C>T (p.Thr82Ile)	ZNF853 (T82I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388137	NM_017560.3(ZNF853):c.247C>T (p.Arg83Trp)	ZNF853 (R83W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272097	NM_017560.3(ZNF853):c.322C>G (p.Gln108Glu)	ZNF853 (Q93E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360474	NM_017560.3(ZNF853):c.358C>G (p.Gln120Glu)	ZNF853 (Q120E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596920	NM_017560.3(ZNF853):c.462C>G (p.His154Gln)	ZNF853 (H139Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308945	NM_017560.3(ZNF853):c.505C>T (p.Arg169Trp)	ZNF853 (R154W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509191	NM_017560.3(ZNF853):c.536C>T (p.Thr179Met)	ZNF853 (T179M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341257	NM_017560.3(ZNF853):c.558G>C (p.Gln186His)	ZNF853 (Q171H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216574	NM_017560.3(ZNF853):c.671A>C (p.Gln224Pro)	ZNF853 (Q224P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343734	NM_017560.3(ZNF853):c.802G>A (p.Glu268Lys)	ZNF853 (E268K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244610	NM_017560.3(ZNF853):c.893A>C (p.Gln298Pro)	ZNF853 (Q283P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198864	NM_017560.3(ZNF853):c.925C>T (p.Pro309Ser)	ZNF853 (P294S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329300	NM_017560.3(ZNF853):c.926C>T (p.Pro309Leu)	ZNF853 (P294L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328237	NM_017560.3(ZNF853):c.932C>A (p.Pro311His)	ZNF853 (P296H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198865	NM_017560.3(ZNF853):c.980T>C (p.Val327Ala)	ZNF853 (V312A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198849	NM_017560.3(ZNF853):c.1048C>T (p.Arg350Trp)	ZNF853 (R350W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198850	NM_017560.3(ZNF853):c.1177C>G (p.Leu393Val)	ZNF853 (L393V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198852	NM_017560.3(ZNF853):c.1226C>T (p.Pro409Leu)	ZNF853 (P394L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198853	NM_017560.3(ZNF853):c.1255G>A (p.Ala419Thr)	ZNF853 (A404T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220418	NM_017560.3(ZNF853):c.1285G>T (p.Ala429Ser)	ZNF853 (A429S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213016	NM_017560.3(ZNF853):c.1441C>G (p.Arg481Gly)	ZNF853 (R466G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264140	NM_017560.3(ZNF853):c.1444G>A (p.Asp482Asn)	ZNF853 (D467N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198854	NM_017560.3(ZNF853):c.1537C>T (p.His513Tyr)	ZNF853 (H498Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515995	NM_017560.3(ZNF853):c.1561G>A (p.Gly521Ser)	ZNF853 (G506S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198855	NM_017560.3(ZNF853):c.1567T>C (p.Ser523Pro)	ZNF853 (S523P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555999	NM_017560.3(ZNF853):c.1609G>T (p.Gly537Cys)	ZNF853 (G522C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534805	NM_017560.3(ZNF853):c.1630T>C (p.Ser544Pro)	ZNF853 (S529P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520849	NM_017560.3(ZNF853):c.1666C>G (p.Leu556Val)	ZNF853 (L556V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263446	NM_017560.3(ZNF853):c.1829T>C (p.Val610Ala)	ZNF853 (V595A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412456	NM_017560.3(ZNF853):c.1837C>T (p.Arg613Cys)	ZNF853 (R598C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198856	NM_017560.3(ZNF853):c.1840C>T (p.Arg614Cys)	ZNF853 (R599C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363782	NM_017560.3(ZNF853):c.1865C>T (p.Ala622Val)	ZNF853 (A622V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198857	NM_017560.3(ZNF853):c.1877G>C (p.Arg626Thr)	ZNF853 (R626T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464051	NM_017560.3(ZNF853):c.1885G>C (p.Gly629Arg)	ZNF853 (G629R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553839	NM_017560.3(ZNF853):c.1904G>A (p.Arg635Gln)	ZNF853 (R635Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516297	NM_017560.3(ZNF853):c.1930C>T (p.Arg644Cys)	ZNF853 (R644C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198858	NM_017560.3(ZNF853):c.1968C>G (p.Asp656Glu)	ZNF853 (D656E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062958	GRCh37/hg19 7p22.1(chr7:6007649-6753402)x3	AIMP2, CYTH3 +14 more	Copy number gain	not specified	GUncertain significance
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 1808885	GRCh37/hg19 7p22.1(chr7:6615773-7080078)x3	CCZ1B, INTS15 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1483586	NC_000007.13:g.(?_6026370)_(6744804_?)dup	DAGLB, EIF2AK1 +13 more	Duplication	not provided	GUncertain significance
Select item 980260	GRCh37/hg19 7p22.1(chr7:5919587-6762394)x3	DAGLB, EIF2AK1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 980259	GRCh37/hg19 7p22.1(chr7:6183858-7137555)x3	CYTH3, RAC1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 814927	GRCh37/hg19 7p22.1-21.3(chr7:6536635-7639607)x3	COL28A1, GRID2IP +9 more	Copy number gain	not provided	GLikely benign
Select item 814926	GRCh37/hg19 7p22.1(chr7:6394921-6762394)x3	ZNF316, RAC1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 685930	GRCh37/hg19 7p22.1(chr7:6517699-7294602)x3	C1GALT1, CCZ1B +8 more	Copy number gain	not provided	GUncertain significance
Select item 563411	GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	ACTB, AIMP2 +33 more	Copy number gain	not provided	GPathogenic
Select item 563391	GRCh37/hg19 7p22.1-21.3(chr7:6579045-7639607)x3	ZNF12, INTS15 +9 more	Copy number gain	not provided	GLikely benign
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443404	GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3	ACTB, AIMP2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 88