ClinVar for Gene (Select 51351) - ClinVar

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

Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334908	NM_015852.5(ZNF117):c.1220G>A (p.Cys407Tyr)	ERV3-1-ZNF117, ZNF117 (C407Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334907	NM_015852.5(ZNF117):c.629C>A (p.Thr210Lys)	ERV3-1-ZNF117, ZNF117 (T210K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334906	NM_015852.5(ZNF117):c.1135C>T (p.His379Tyr)	ERV3-1-ZNF117, ZNF117 (H379Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334905	NM_015852.5(ZNF117):c.617C>T (p.Ser206Leu)	ERV3-1-ZNF117, ZNF117 (S206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334904	NM_015852.5(ZNF117):c.901G>A (p.Gly301Arg)	ERV3-1-ZNF117, ZNF117 (G301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334903	NM_015852.5(ZNF117):c.1114C>G (p.Gln372Glu)	ERV3-1-ZNF117, ZNF117 (Q372E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193961	NM_015852.5(ZNF117):c.911C>T (p.Pro304Leu)	ERV3-1-ZNF117, ZNF117 (P304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193960	NM_015852.5(ZNF117):c.779G>A (p.Arg260Gln)	ERV3-1-ZNF117, ZNF117 (R260Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193959	NM_015852.5(ZNF117):c.730A>C (p.Thr244Pro)	ERV3-1-ZNF117, ZNF117 (T244P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193958	NM_015852.5(ZNF117):c.620C>G (p.Thr207Ser)	ERV3-1-ZNF117, ZNF117 (T207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193957	NM_015852.5(ZNF117):c.355T>C (p.Cys119Arg)	ERV3-1-ZNF117, ZNF117 (C119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193955	NM_015852.5(ZNF117):c.331T>C (p.Cys111Arg)	ERV3-1-ZNF117, ZNF117 (C111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193954	NM_015852.5(ZNF117):c.191G>A (p.Gly64Glu)	ERV3-1-ZNF117, ZNF117 (G64E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193953	NM_015852.5(ZNF117):c.175T>C (p.Cys59Arg)	ERV3-1-ZNF117, ZNF117 (C59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193952	NM_015852.5(ZNF117):c.1393A>G (p.Ile465Val)	ERV3-1-ZNF117, ZNF117 (I465V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193950	NM_015852.5(ZNF117):c.1342G>A (p.Glu448Lys)	ERV3-1-ZNF117, ZNF117 (E448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193949	NM_015852.5(ZNF117):c.1310G>T (p.Arg437Ile)	ERV3-1-ZNF117, ZNF117 (R437I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193948	NM_015852.5(ZNF117):c.113G>A (p.Arg38Lys)	ERV3-1-ZNF117, ZNF117 (R38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588743	NM_015852.5(ZNF117):c.1198C>G (p.Leu400Val)	ERV3-1-ZNF117, ZNF117 (L400V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563342	NM_015852.5(ZNF117):c.332G>A (p.Cys111Tyr)	ERV3-1-ZNF117, ZNF117 (C111Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541990	NM_015852.5(ZNF117):c.1376C>T (p.Thr459Ile)	ERV3-1-ZNF117, ZNF117 (T459I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538591	NM_015852.5(ZNF117):c.1131T>A (p.Asn377Lys)	ERV3-1-ZNF117, ZNF117 (N377K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514062	NM_015852.5(ZNF117):c.331T>G (p.Cys111Gly)	ERV3-1-ZNF117, ZNF117 (C111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508333	NM_015852.5(ZNF117):c.311C>T (p.Thr104Ile)	ERV3-1-ZNF117, ZNF117 (T104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482244	NM_015852.5(ZNF117):c.262G>A (p.Glu88Lys)	ERV3-1-ZNF117, ZNF117 (E88K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464650	NM_015852.5(ZNF117):c.164G>C (p.Ser55Thr)	ERV3-1-ZNF117, ZNF117 (S55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411336	NM_015852.5(ZNF117):c.833A>T (p.Lys278Ile)	ERV3-1-ZNF117, ZNF117 (K278I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408660	NM_015852.5(ZNF117):c.93C>A (p.Phe31Leu)	ERV3-1-ZNF117, ZNF117 (F31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382269	NM_015852.5(ZNF117):c.131A>G (p.Tyr44Cys)	ERV3-1-ZNF117, ZNF117 (Y44C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257407	NM_015852.5(ZNF117):c.1162C>A (p.Pro388Thr)	ERV3-1-ZNF117, ZNF117 (P388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257128	NM_015852.5(ZNF117):c.575C>T (p.Pro192Leu)	ERV3-1-ZNF117, ZNF117 (P192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234639	NM_015852.5(ZNF117):c.269T>C (p.Phe90Ser)	ERV3-1-ZNF117, ZNF117 (F90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222156	NM_015852.5(ZNF117):c.386G>A (p.Arg129Lys)	ZNF117, ERV3-1-ZNF117 (R129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215637	NM_015852.5(ZNF117):c.763G>A (p.Gly255Ser)	ERV3-1-ZNF117, ZNF117 (G255S)	Single nucleotide variant (missense variant)	not specified	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	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 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
Select item 155382	GRCh38/hg38 7q11.21(chr7:62977012-66848675)	ASL, CICP24 +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +114 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, GALNT17 +158 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 53