ZNF813[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +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	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +537 more	Copy number gain	See cases	GPathogenic
Select item 2473032	NM_001004301.4(ZNF813):c.34G>T (p.Asp12Tyr)	ZNF813 (D12Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399899	NM_001004301.4(ZNF813):c.143A>C (p.Asp48Ala)	ZNF813 (D48A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650410	NM_001004301.4(ZNF813):c.233A>G (p.Glu78Gly)	ZNF813 (E78G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2534020	NM_001004301.4(ZNF813):c.387G>T (p.Arg129Ser)	ZNF813 (R129S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490356	NM_001004301.4(ZNF813):c.418C>T (p.Leu140Phe)	ZNF813 (L140F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354526	NM_001004301.4(ZNF813):c.454C>A (p.His152Asn)	ZNF813 (H152N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355666	NM_001004301.4(ZNF813):c.536G>T (p.Arg179Ile)	ZNF813 (R179I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2385293	NM_001004301.4(ZNF813):c.549G>T (p.Arg183Ser)	ZNF813 (R183S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288794	NM_001004301.4(ZNF813):c.556A>G (p.Thr186Ala)	ZNF813 (T186A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252566	NM_001004301.4(ZNF813):c.560A>G (p.His187Arg)	ZNF813 (H187R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363066	NM_001004301.4(ZNF813):c.590G>A (p.Arg197Gln)	ZNF813 (R197Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214751	NM_001004301.4(ZNF813):c.760C>T (p.Arg254Trp)	ZNF813 (R254W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482324	NM_001004301.4(ZNF813):c.784C>T (p.Arg262Cys)	ZNF813 (R262C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356276	NM_001004301.4(ZNF813):c.784C>G (p.Arg262Gly)	ZNF813 (R262G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542634	NM_001004301.4(ZNF813):c.848C>T (p.Thr283Met)	ZNF813 (T283M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245433	NM_001004301.4(ZNF813):c.863G>T (p.Cys288Phe)	ZNF813 (C288F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252567	NM_001004301.4(ZNF813):c.868C>A (p.Arg290Ser)	ZNF813 (R290S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568444	NM_001004301.4(ZNF813):c.869G>A (p.Arg290His)	ZNF813 (R290H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404462	NM_001004301.4(ZNF813):c.1037G>A (p.Arg346His)	ZNF813 (R346H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306058	NM_001004301.4(ZNF813):c.1042C>T (p.Leu348Phe)	ZNF813 (L348F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233148	NM_001004301.4(ZNF813):c.1220G>T (p.Gly407Val)	ZNF813 (G407V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287043	NM_001004301.4(ZNF813):c.1238G>A (p.Cys413Tyr)	ZNF813 (C413Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214116	NM_001004301.4(ZNF813):c.1238G>C (p.Cys413Ser)	ZNF813 (C413S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377971	NM_001004301.4(ZNF813):c.1283G>A (p.Arg428His)	ZNF813 (R428H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650411	NM_001004301.4(ZNF813):c.1336_1337del (p.Lys446fs)	ZNF813 (K446fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2354525	NM_001004301.4(ZNF813):c.1340C>T (p.Thr447Met)	ZNF813 (T447M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239052	NM_001004301.4(ZNF813):c.1378A>G (p.Ile460Val)	ZNF813 (I460V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475548	NM_001004301.4(ZNF813):c.1480C>T (p.Pro494Ser)	ZNF813 (P494S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218526	NM_001004301.4(ZNF813):c.1516C>T (p.Arg506Trp)	ZNF813 (R506W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330901	NM_001004301.4(ZNF813):c.1591G>T (p.Val531Phe)	ZNF813 (V531F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330902	NM_001004301.4(ZNF813):c.1592T>A (p.Val531Asp)	ZNF813 (V531D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374600	NM_001004301.4(ZNF813):c.1766A>C (p.Asn589Thr)	ZNF813 (N589T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684893	GRCh37/hg19 19q13.42(chr19:53963333-54421591)x3	CACNG7, DPRX +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816091	GRCh37/hg19 19q13.42(chr19:53895878-53972664)x1	ZNF765, ZNF813 +1 more	Copy number loss	not provided	GLikely benign
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
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: 50