ZNF117[gene] - ClinVar

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Items: 35

	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 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, AUTS2 +157 more	Copy number loss	See cases	GPathogenic
Select item 153326	GRCh38/hg38 7q11.21(chr7:64879046-65086621)x1	ERV3-1, ERV3-1-ZNF117 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2541990	NM_015852.5(ZNF117):c.1376C>T (p.Thr459Ile)	ERV3-1-ZNF117, ZNF117 (T459I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588743	NM_015852.5(ZNF117):c.1198C>G (p.Leu400Val)	ERV3-1-ZNF117, ZNF117 (L400V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257407	NM_015852.5(ZNF117):c.1162C>A (p.Pro388Thr)	ERV3-1-ZNF117, ZNF117 (P388T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538591	NM_015852.5(ZNF117):c.1131T>A (p.Asn377Lys)	ERV3-1-ZNF117, ZNF117 (N377K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411336	NM_015852.5(ZNF117):c.833A>T (p.Lys278Ile)	ERV3-1-ZNF117, ZNF117 (K278I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215637	NM_015852.5(ZNF117):c.763G>A (p.Gly255Ser)	ERV3-1-ZNF117, ZNF117 (G255S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257128	NM_015852.5(ZNF117):c.575C>T (p.Pro192Leu)	ERV3-1-ZNF117, ZNF117 (P192L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222156	NM_015852.5(ZNF117):c.386G>A (p.Arg129Lys)	ERV3-1-ZNF117, ZNF117 (R129K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2563342	NM_015852.5(ZNF117):c.332G>A (p.Cys111Tyr)	ERV3-1-ZNF117, ZNF117 (C111Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514062	NM_015852.5(ZNF117):c.331T>G (p.Cys111Gly)	ERV3-1-ZNF117, ZNF117 (C111G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508333	NM_015852.5(ZNF117):c.311C>T (p.Thr104Ile)	ERV3-1-ZNF117, ZNF117 (T104I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234639	NM_015852.5(ZNF117):c.269T>C (p.Phe90Ser)	ERV3-1-ZNF117, ZNF117 (F90S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482244	NM_015852.5(ZNF117):c.262G>A (p.Glu88Lys)	ERV3-1-ZNF117, ZNF117 (E88K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2464650	NM_015852.5(ZNF117):c.164G>C (p.Ser55Thr)	ERV3-1-ZNF117, ZNF117 (S55T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382269	NM_015852.5(ZNF117):c.131A>G (p.Tyr44Cys)	ERV3-1-ZNF117, ZNF117 (Y44C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408660	NM_015852.5(ZNF117):c.93C>A (p.Phe31Leu)	ERV3-1-ZNF117, ZNF117 (F31L)	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 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 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	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 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: 35