ZNF12[gene] - ClinVar

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

Search results

Items: 74

	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 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	CUL1, CUX1 +4737 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 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 3193964	NM_016265.4(ZNF12):c.2086C>T (p.Leu696Phe)	ZNF12 (L658F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530658	NM_016265.4(ZNF12):c.2024C>T (p.Ala675Val)	ZNF12 (A675V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618937	NM_016265.4(ZNF12):c.1908T>G (p.Asn636Lys)	ZNF12 (N598K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300393	NM_016265.4(ZNF12):c.1528A>G (p.Ile510Val)	ZNF12 (I510V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193963	NM_016265.4(ZNF12):c.1398A>C (p.Glu466Asp)	ZNF12 (E466D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193962	NM_016265.4(ZNF12):c.1283T>G (p.Leu428Arg)	ZNF12 (L428R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334909	NM_016265.4(ZNF12):c.1274C>T (p.Thr425Met)	ZNF12 (T387M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230357	NM_016265.4(ZNF12):c.1248A>C (p.Lys416Asn)	ZNF12 (K378N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471109	NM_016265.4(ZNF12):c.1151A>G (p.His384Arg)	ZNF12 (H384R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193967	NM_016265.4(ZNF12):c.950G>A (p.Arg317Lys)	ZNF12 (R279K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657311	NM_016265.4(ZNF12):c.921C>T (p.Cys307=)	ZNF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2268219	NM_016265.4(ZNF12):c.892G>A (p.Glu298Lys)	ZNF12 (E260K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193966	NM_016265.4(ZNF12):c.788A>G (p.His263Arg)	ZNF12 (H263R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528526	NM_016265.4(ZNF12):c.776A>C (p.His259Pro)	ZNF12 (H221P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594268	NM_016265.4(ZNF12):c.761C>T (p.Ser254Leu)	ZNF12 (S216L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193965	NM_016265.4(ZNF12):c.722A>G (p.Tyr241Cys)	ZNF12 (Y203C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334910	NM_016265.4(ZNF12):c.664T>C (p.Cys222Arg)	ZNF12 (C184R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515423	NM_016265.4(ZNF12):c.646C>A (p.Pro216Thr)	ZNF12 (P178T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384180	NM_016265.4(ZNF12):c.632G>A (p.Arg211His)	ZNF12 (R173H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321557	NM_016265.4(ZNF12):c.592C>G (p.Pro198Ala)	ZNF12 (P198A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206019	NM_016265.4(ZNF12):c.467G>C (p.Ser156Thr)	ZNF12 (S118T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473831	NM_016265.4(ZNF12):c.380C>T (p.Pro127Leu)	ZNF12 (P127L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267710	NM_016265.4(ZNF12):c.380C>G (p.Pro127Arg)	ZNF12 (P127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618603	NM_016265.4(ZNF12):c.331G>A (p.Glu111Lys)	ZNF12 (E111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389300	NM_016265.4(ZNF12):c.296C>T (p.Pro99Leu)	ZNF12 (P99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589457	NM_016265.4(ZNF12):c.269A>G (p.Glu90Gly)	ZNF12 (E90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516199	NM_016265.4(ZNF12):c.262C>A (p.Leu88Ile)	ZNF12 (L88I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334911	NM_016265.4(ZNF12):c.235C>G (p.Pro79Ala)	ZNF12 (P79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270694	NM_016265.4(ZNF12):c.218T>A (p.Phe73Tyr)	ZNF12 (F73Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359924	NM_016265.4(ZNF12):c.149A>G (p.His50Arg)	ZNF12 (H50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362742	NM_016265.4(ZNF12):c.68A>G (p.Gln23Arg)	ZNF12 (Q23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316024	NM_016265.4(ZNF12):c.5A>T (p.Asn2Ile)	ZNF12 (N2I)	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	AIMP2, CYTH3 +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
Select item 393776	GRCh37/hg19 7p22.1(chr7:6714553-6745510)x3	ZNF12	Copy number gain	See cases	GBenign

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: 74