ZNF107[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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	ABHD11, ABHD11-AS1 +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	ABHD11, ABHD11-AS1 +349 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, AUTS2 +157 more	Copy number loss	See cases	GPathogenic
Select item 769718	NM_001282359.2(ZNF107):c.150A>G (p.Pro50=)	ZNF107	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3193925	NM_001282359.2(ZNF107):c.278A>T (p.Asp93Val)	ZNF107 (D137V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366283	NM_001282359.2(ZNF107):c.310G>A (p.Gly104Arg)	ZNF107 (G109R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272764	NM_001282359.2(ZNF107):c.346G>A (p.Gly116Ser)	ZNF107 (G47S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390607	NM_001282359.2(ZNF107):c.350G>A (p.Cys117Tyr)	ZNF107 (C85Y +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193918	NM_001282359.2(ZNF107):c.371C>T (p.Thr124Met)	ZNF107 (T92M +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2204095	NM_001282359.2(ZNF107):c.404A>G (p.Gln135Arg)	ZNF107 (Q103R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525030	NM_001282359.2(ZNF107):c.475A>G (p.Asn159Asp)	ZNF107 (N159D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193921	NM_001282359.2(ZNF107):c.550G>A (p.Val184Met)	ZNF107 (V152M +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232839	NM_001282359.2(ZNF107):c.601T>C (p.Tyr201His)	ZNF107 (Y201H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524525	NM_001282359.2(ZNF107):c.656A>G (p.His219Arg)	ZNF107 (H263R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514081	NM_001282359.2(ZNF107):c.752A>T (p.His251Leu)	ZNF107 (H251L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205209	NM_001282359.2(ZNF107):c.752A>G (p.His251Arg)	ZNF107 (H182R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519324	NM_001282359.2(ZNF107):c.770A>G (p.Asn257Ser)	ZNF107 (N262S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193922	NM_001282359.2(ZNF107):c.845A>G (p.Glu282Gly)	ZNF107 (E213G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193924	NM_001282359.2(ZNF107):c.887A>T (p.Gln296Leu)	ZNF107 (Q301L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709064	NM_001282359.2(ZNF107):c.1027T>G (p.Cys343Gly)	ZNF107 (C343G +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2527069	NM_001282359.2(ZNF107):c.1046C>G (p.Ala349Gly)	ZNF107 (A317G +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193926	NM_001282359.2(ZNF107):c.1054A>G (p.Ile352Val)	ZNF107 (I283V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486750	NM_001282359.2(ZNF107):c.1065C>A (p.Asn355Lys)	ZNF107 (N323K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609788	NM_001282359.2(ZNF107):c.1100A>G (p.Lys367Arg)	ZNF107 (K335R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252060	NM_001282359.2(ZNF107):c.1127A>G (p.Lys376Arg)	ZNF107 (K307R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614106	NM_001282359.2(ZNF107):c.1244A>G (p.His415Arg)	ZNF107 (H383R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193915	NM_001282359.2(ZNF107):c.1303A>G (p.Asn435Asp)	ZNF107 (N435D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193916	NM_001282359.2(ZNF107):c.1376G>A (p.Gly459Asp)	ZNF107 (G459D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717331	NM_001282359.2(ZNF107):c.1408A>G (p.Asn470Asp)	ZNF107 (N401D +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2256045	NM_001282359.2(ZNF107):c.1429G>A (p.Gly477Arg)	ZNF107 (G477R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561387	NM_001282359.2(ZNF107):c.1643G>A (p.Arg548Gln)	ZNF107 (R516Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776231	NM_001282359.2(ZNF107):c.1822C>T (p.Arg608Cys)	ZNF107 (R608C +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2379852	NM_001282359.2(ZNF107):c.1823G>A (p.Arg608His)	ZNF107 (R608H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313824	NM_001282359.2(ZNF107):c.1859C>T (p.Pro620Leu)	ZNF107 (P551L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193919	NM_001282359.2(ZNF107):c.1907T>G (p.Leu636Arg)	ZNF107 (L567R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713598	NM_001282359.2(ZNF107):c.1954G>A (p.Glu652Lys)	ZNF107 (E620K +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2550154	NM_001282359.2(ZNF107):c.1978C>G (p.Leu660Val)	ZNF107 (L665V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193920	NM_001282359.2(ZNF107):c.1984T>G (p.Ser662Ala)	ZNF107 (S630A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378991	NM_001282359.2(ZNF107):c.1985C>T (p.Ser662Leu)	ZNF107 (S662L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211774	NM_001282359.2(ZNF107):c.2005A>G (p.Ile669Val)	ZNF107 (I669V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790354	NM_001282359.2(ZNF107):c.2018G>T (p.Gly673Val)	ZNF107 (G604V +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2591813	NM_001282359.2(ZNF107):c.2024A>C (p.Lys675Thr)	ZNF107 (K675T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784112	NM_001282359.2(ZNF107):c.2100G>A (p.Thr700=)	ZNF107	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768151	NM_001282359.2(ZNF107):c.2166A>G (p.Arg722=)	ZNF107	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 623424	NM_001282359.2(ZNF107):c.2214_2215del (p.Cys738fs)	ZNF107 (C669fs +4 more)	Microsatellite (frameshift variant)	High myopia	GUncertain significance
Select item 786740	NM_001282359.2(ZNF107):c.2217C>T (p.Gly739=)	ZNF107	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2352782	NM_001282359.2(ZNF107):c.2282A>T (p.Tyr761Phe)	ZNF107 (Y692F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657523	NM_001282359.2(ZNF107):c.2316A>G (p.Gln772=)	ZNF107	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2289335	NM_001282359.2(ZNF107):c.2472A>C (p.Arg824Ser)	ZNF107 (R824S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768152	NM_001282359.2(ZNF107):c.2543dup (p.Tyr849fs)	ZNF107 (Y817fs +4 more)	Duplication (frameshift variant)	not provided	GBenign
Select item 768153	NM_001282359.2(ZNF107):c.2544_2545insAA (p.Tyr849fs)	ZNF107 (Y780fs +4 more)	Insertion (frameshift variant)	not provided	GBenign
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 1340473	GRCh37/hg19 7q11.21(chr7:64052765-64651336)x1	ERV3-1, ZNF107 +3 more	Copy number loss	not provided	GUncertain significance
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 687667	GRCh37/hg19 7q11.21(chr7:63903253-64426719)x4	ZNF107, ZNF138 +2 more	Copy number gain	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 443521	GRCh37/hg19 7q11.21-11.22(chr7:63583563-71047246)x1	ASL, AUTS2 +20 more	Copy number loss	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 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: 68