ClinVar for Gene (Select 7559) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 2657311	NM_016265.4(ZNF12):c.921C>T (p.Cys307=)	ZNF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2618603	NM_016265.4(ZNF12):c.331G>A (p.Glu111Lys)	ZNF12 (E111K)	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 2589457	NM_016265.4(ZNF12):c.269A>G (p.Glu90Gly)	ZNF12 (E90G)	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 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 2516199	NM_016265.4(ZNF12):c.262C>A (p.Leu88Ile)	ZNF12 (L88I)	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 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 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 2389300	NM_016265.4(ZNF12):c.296C>T (p.Pro99Leu)	ZNF12 (P99L)	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 2362742	NM_016265.4(ZNF12):c.68A>G (p.Gln23Arg)	ZNF12 (Q23R)	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 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 2316024	NM_016265.4(ZNF12):c.5A>T (p.Asn2Ile)	ZNF12 (N2I)	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 2270694	NM_016265.4(ZNF12):c.218T>A (p.Phe73Tyr)	ZNF12 (F73Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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
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 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	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 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	LINC03073, LOC106783574 +120 more	Copy number gain	See cases	GLikely pathogenic
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 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 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 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	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 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 74