ZNF17[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 2473197	NM_001330617.2(ZNF17):c.-32A>G	LOC130065182, ZNF17 (N2D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2306653	NM_001330617.2(ZNF17):c.25T>G (p.Tyr9Asp)	ZNF17 (Y7D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600386	NM_001330617.2(ZNF17):c.43G>A (p.Val15Met)	ZNF17 (V15M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247741	NM_001330617.2(ZNF17):c.88G>A (p.Val30Ile)	ZNF17 (V28I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380762	NM_001330617.2(ZNF17):c.109G>A (p.Asp37Asn)	ZNF17 (D37N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304943	NM_001330617.2(ZNF17):c.116T>C (p.Met39Thr)	ZNF17 (M37T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341516	NM_001330617.2(ZNF17):c.200C>T (p.Ser67Phe)	ZNF17 (S67F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194176	NM_001330617.2(ZNF17):c.331C>T (p.Arg111Cys)	ZNF17 (R109C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527198	NM_001330617.2(ZNF17):c.341A>G (p.Lys114Arg)	ZNF17 (K112R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194177	NM_001330617.2(ZNF17):c.349C>G (p.Leu117Val)	ZNF17 (L117V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334362	NM_001330617.2(ZNF17):c.365A>G (p.His122Arg)	ZNF17 (H122R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709512	NM_001330617.2(ZNF17):c.429C>T (p.His143=)	ZNF17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2311774	NM_001330617.2(ZNF17):c.459G>T (p.Gln153His)	ZNF17 (Q151H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040820	NM_001330617.2(ZNF17):c.557A>G (p.Gln186Arg)	ZNF17 (Q184R +1 more)	Single nucleotide variant (missense variant)	ZNF17-related disorder	GLikely benign
Select item 3194178	NM_001330617.2(ZNF17):c.560G>A (p.Ser187Asn)	ZNF17 (S185N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650571	NM_001330617.2(ZNF17):c.588A>G (p.Gln196=)	ZNF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2527325	NM_001330617.2(ZNF17):c.646G>C (p.Glu216Gln)	ZNF17 (E214Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335033	NM_001330617.2(ZNF17):c.703C>G (p.Leu235Val)	ZNF17 (L233V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368470	NM_001330617.2(ZNF17):c.721A>C (p.Asn241His)	ZNF17 (N239H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335031	NM_001330617.2(ZNF17):c.743A>G (p.Tyr248Cys)	ZNF17 (Y246C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485519	NM_001330617.2(ZNF17):c.759T>G (p.Cys253Trp)	ZNF17 (C253W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538021	NM_001330617.2(ZNF17):c.775C>T (p.Leu259Phe)	ZNF17 (L259F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194180	NM_001330617.2(ZNF17):c.823C>G (p.Pro275Ala)	ZNF17 (P273A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650572	NM_001330617.2(ZNF17):c.828T>C (p.Tyr276=)	ZNF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370023	NM_001330617.2(ZNF17):c.835A>G (p.Ser279Gly)	ZNF17 (S277G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478513	NM_001330617.2(ZNF17):c.841T>C (p.Cys281Arg)	ZNF17 (C281R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368333	NM_001330617.2(ZNF17):c.882C>G (p.His294Gln)	ZNF17 (H292Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601911	NM_001330617.2(ZNF17):c.886A>T (p.Arg296Trp)	ZNF17 (R294W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194181	NM_001330617.2(ZNF17):c.923A>G (p.Glu308Gly)	ZNF17 (E308G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368334	NM_001330617.2(ZNF17):c.940C>G (p.Leu314Val)	ZNF17 (L314V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348240	NM_001330617.2(ZNF17):c.952C>T (p.His318Tyr)	ZNF17 (H316Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335032	NM_001330617.2(ZNF17):c.953A>G (p.His318Arg)	ZNF17 (H316R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324868	NM_001330617.2(ZNF17):c.976C>G (p.His326Asp)	ZNF17 (H324D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298459	NM_001330617.2(ZNF17):c.988C>T (p.Arg330Trp)	ZNF17 (R328W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528792	NM_001330617.2(ZNF17):c.1004A>G (p.Asn335Ser)	ZNF17 (N333S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391895	NM_001330617.2(ZNF17):c.1198C>T (p.Arg400Cys)	ZNF17 (R398C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034334	NM_001330617.2(ZNF17):c.1206A>G (p.Thr402=)	ZNF17	Single nucleotide variant (synonymous variant)	ZNF17-related disorder	GLikely benign
Select item 3194171	NM_001330617.2(ZNF17):c.1231A>G (p.Thr411Ala)	ZNF17 (T409A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545068	NM_001330617.2(ZNF17):c.1376T>C (p.Leu459Pro)	ZNF17 (L459P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354910	NM_001330617.2(ZNF17):c.1444G>A (p.Val482Met)	ZNF17 (V482M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262234	NM_001330617.2(ZNF17):c.1501G>A (p.Glu501Lys)	ZNF17 (E499K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461669	NM_001330617.2(ZNF17):c.1578G>T (p.Arg526Ser)	ZNF17 (R524S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353381	NM_001330617.2(ZNF17):c.1580C>G (p.Pro527Arg)	ZNF17 (P527R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539154	NM_001330617.2(ZNF17):c.1645A>G (p.Asn549Asp)	ZNF17 (N547D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311057	NM_001330617.2(ZNF17):c.1670A>C (p.Glu557Ala)	ZNF17 (E557A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335030	NM_001330617.2(ZNF17):c.1690G>A (p.Val564Ile)	ZNF17 (V562I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335035	NM_001330617.2(ZNF17):c.1787G>A (p.Ser596Asn)	ZNF17 (S596N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350139	NM_001330617.2(ZNF17):c.1803T>G (p.Ser601Arg)	ZNF17 (S599R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303804	NM_001330617.2(ZNF17):c.1846G>C (p.Glu616Gln)	ZNF17 (E614Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194173	NM_001330617.2(ZNF17):c.1882A>G (p.Ile628Val)	ZNF17 (I626V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194174	NM_001330617.2(ZNF17):c.1891C>T (p.Arg631Trp)	ZNF17 (R629W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335034	NM_001330617.2(ZNF17):c.1892G>T (p.Arg631Leu)	ZNF17 (R631L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207186	NM_001330617.2(ZNF17):c.1892G>A (p.Arg631Gln)	ZNF17 (R629Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321734	NM_001330617.2(ZNF17):c.1984C>T (p.His662Tyr)	ZNF17 (H660Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564595	GRCh37/hg19 19q13.43(chr19:57891243-58536930)x3	ZNF814, ZSCAN4 +27 more	Copy number gain	not provided	GLikely benign
Select item 564590	GRCh37/hg19 19q13.43(chr19:57718739-58058739)x1	VN1R1, AURKC +14 more	Copy number loss	not provided	GUncertain significance
Select item 560105	Single allele	ZNF805, ZNF17 +11 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

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Items: 73