ZNF727[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +228 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +113 more	Copy number gain	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998532, LOC129998533 +350 more	Copy number loss	See cases	GPathogenic
Select item 155382	GRCh38/hg38 7q11.21(chr7:62977012-66848675)	ASL, CICP24 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	LOC129998632, LOC129998633 +349 more	Copy number gain	See cases	GPathogenic
Select item 147850	GRCh38/hg38 7q11.21(chr7:63868094-64494908)x3	LINC01005, LINC02848 +10 more	Copy number gain	See cases	GBenign
Select item 787051	NM_001159522.3(ZNF727):c.4C>T (p.Arg2Ter)	ZNF727 (R2*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2258426	NM_001159522.3(ZNF727):c.28G>A (p.Ala10Thr)	ZNF727 (A10T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712646	NM_001159522.3(ZNF727):c.247G>A (p.Ala83Thr)	ZNF727 (A83T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2332125	NM_001159522.3(ZNF727):c.400C>G (p.His134Asp)	ZNF727 (H134D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247524	NM_001159522.3(ZNF727):c.455A>G (p.Lys152Arg)	ZNF727 (K152R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308944	NM_001159522.3(ZNF727):c.565A>G (p.Ile189Val)	ZNF727 (I189V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381192	NM_001159522.3(ZNF727):c.646A>T (p.Thr216Ser)	ZNF727 (T216S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323714	NM_001159522.3(ZNF727):c.701G>A (p.Gly234Asp)	ZNF727 (G234D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216605	NM_001159522.3(ZNF727):c.715T>G (p.Cys239Gly)	ZNF727 (C239G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739218	NM_001159522.3(ZNF727):c.727del (p.Thr244fs)	ZNF727 (T244fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 746571	NM_001159522.3(ZNF727):c.786C>G (p.His262Gln)	ZNF727 (H262Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2496205	NM_001159522.3(ZNF727):c.808G>C (p.Asp270His)	ZNF727 (D270H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478019	NM_001159522.3(ZNF727):c.862G>A (p.Glu288Lys)	ZNF727 (E288K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305535	NM_001159522.3(ZNF727):c.930A>C (p.Lys310Asn)	ZNF727 (K310N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368706	NM_001159522.3(ZNF727):c.1007G>A (p.Gly336Glu)	ZNF727 (G336E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774315	NM_001159522.3(ZNF727):c.1117T>C (p.Cys373Arg)	ZNF727 (C373R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2544587	NM_001159522.3(ZNF727):c.1133A>G (p.Lys378Arg)	ZNF727 (K378R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208675	NM_001159522.3(ZNF727):c.1157A>G (p.His386Arg)	ZNF727 (H386R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213796	NM_001159522.3(ZNF727):c.1235T>C (p.Ile412Thr)	ZNF727 (I412T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525970	NM_001159522.3(ZNF727):c.1237A>G (p.Lys413Glu)	ZNF727 (K413E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320154	NM_001159522.3(ZNF727):c.1305G>T (p.Trp435Cys)	ZNF727 (W435C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718473	NM_001159522.3(ZNF727):c.1351C>T (p.Pro451Ser)	ZNF727 (P451S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2240546	NM_001159522.3(ZNF727):c.1393T>G (p.Ser465Ala)	ZNF727 (S465A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383423	NM_001159522.3(ZNF727):c.1398C>A (p.Ser466Arg)	ZNF727 (S466R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610121	NM_001159522.3(ZNF727):c.1403T>C (p.Ile468Thr)	ZNF727 (I468T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215278	NM_001159522.3(ZNF727):c.1423A>T (p.Thr475Ser)	ZNF727 (T475S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1340019	GRCh37/hg19 7q11.21(chr7:63530075-63783985)x1	ZNF679, ZNF727 +2 more	Copy number loss	not provided	GLikely benign
Select item 983155	GRCh37/hg19 7q11.21(chr7:62495083-64927758)x1	ERV3-1, ZNF107 +9 more	Copy number loss	See cases	GUncertain significance
Select item 980823	GRCh37/hg19 7q11.21(chr7:62508852-64940346)x1	ERV3-1, ZNF107 +9 more	Copy number loss	not provided	GUncertain significance
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 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441610	GRCh37/hg19 7q11.21(chr7:62659911-64160628)x3	ZNF107, ZNF679 +4 more	Copy number gain	See cases	GUncertain significance
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 44