ZNF333[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	ADGRE2, ADGRE3 +41 more	Copy number gain	See cases	GUncertain significance
Select item 2411043	NM_032433.4(ZNF333):c.4G>A (p.Glu2Lys)	ZNF333 (E2K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351009	NM_032433.4(ZNF333):c.31G>A (p.Val11Met)	ZNF333 (V11M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313625	NM_032433.4(ZNF333):c.67G>A (p.Ala23Thr)	ZNF333 (A23T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195204	NM_032433.4(ZNF333):c.71G>A (p.Arg24Gln)	ZNF333 (R24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195197	NM_032433.4(ZNF333):c.157T>A (p.Ser53Thr)	ZNF333 (S53T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206531	NM_032433.4(ZNF333):c.197G>C (p.Arg66Pro)	ZNF333 (R66P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195199	NM_032433.4(ZNF333):c.237A>C (p.Gln79His)	ZNF333 (Q79H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477563	NM_032433.4(ZNF333):c.307G>C (p.Gly103Arg)	ZNF333 (G103R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335492	NM_032433.4(ZNF333):c.311C>G (p.Pro104Arg)	ZNF333 (P104R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272454	NM_032433.4(ZNF333):c.340C>T (p.Pro114Ser)	ZNF333 (P5S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357297	NM_032433.4(ZNF333):c.382C>T (p.Arg128Trp)	ZNF333 (R128W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2241361	NM_032433.4(ZNF333):c.383G>A (p.Arg128Gln)	ZNF333 (R128Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569104	NM_032433.4(ZNF333):c.401C>T (p.Pro134Leu)	ZNF333 (P134L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328234	NM_032433.4(ZNF333):c.403C>A (p.Pro135Thr)	ZNF333 (P135T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404252	NM_032433.4(ZNF333):c.422C>T (p.Thr141Met)	ZNF333 (T141M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3195200	NM_032433.4(ZNF333):c.484C>T (p.Arg162Cys)	ZNF333 (R53C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195201	NM_032433.4(ZNF333):c.485G>A (p.Arg162His)	ZNF333 (R162H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286619	NM_032433.4(ZNF333):c.506A>G (p.Asp169Gly)	ZNF333 (D169G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3195203	NM_032433.4(ZNF333):c.517C>A (p.Pro173Thr)	ZNF333 (P173T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455444	NM_032433.4(ZNF333):c.589G>A (p.Ala197Thr)	ZNF333 (A51T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3335494	NM_032433.4(ZNF333):c.611C>A (p.Thr204Asn)	ZNF333 (T58N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568508	NM_032433.4(ZNF333):c.640C>T (p.Pro214Ser)	ZNF333 (P214S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281437	NM_032433.4(ZNF333):c.648A>T (p.Glu216Asp)	ZNF333 (E70D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550155	NM_032433.4(ZNF333):c.688G>C (p.Asp230His)	ZNF333 (D230H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493120	NM_032433.4(ZNF333):c.707A>G (p.Tyr236Cys)	ZNF333 (Y127C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335491	NM_032433.4(ZNF333):c.765G>T (p.Leu255Phe)	ZNF333 (L146F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335496	NM_032433.4(ZNF333):c.817T>G (p.Cys273Gly)	ZNF333 (C164G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195205	NM_032433.4(ZNF333):c.901G>C (p.Glu301Gln)	ZNF333 (E192Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456816	NM_032433.4(ZNF333):c.929A>G (p.Tyr310Cys)	ZNF333 (Y164C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205921	NM_032433.4(ZNF333):c.935A>G (p.Tyr312Cys)	ZNF333 (Y81C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294298	NM_032433.4(ZNF333):c.964A>T (p.Ile322Phe)	ZNF333 (I213F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195195	NM_032433.4(ZNF333):c.1054C>T (p.His352Tyr)	ZNF333 (H121Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322883	NM_032433.4(ZNF333):c.1078C>T (p.Arg360Cys)	ZNF333 (R129C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530879	NM_032433.4(ZNF333):c.1275T>A (p.Ser425Arg)	ZNF333 (S194R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547908	NM_032433.4(ZNF333):c.1280G>A (p.Cys427Tyr)	ZNF333 (C318Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206995	NM_032433.4(ZNF333):c.1325G>T (p.Arg442Ile)	ZNF333 (R211I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280415	NM_032433.4(ZNF333):c.1363T>G (p.Cys455Gly)	ZNF333 (C309G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211485	NM_032433.4(ZNF333):c.1393C>T (p.Leu465Phe)	ZNF333 (L319F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284361	NM_032433.4(ZNF333):c.1501A>G (p.Thr501Ala)	ZNF333 (T392A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195196	NM_032433.4(ZNF333):c.1567G>A (p.Val523Met)	ZNF333 (V292M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595350	NM_032433.4(ZNF333):c.1618G>A (p.Gly540Ser)	ZNF333 (G309S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2561221	NM_032433.4(ZNF333):c.1745G>A (p.Arg582Lys)	ZNF333 (R473K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335495	NM_032433.4(ZNF333):c.1790G>A (p.Arg597Gln)	ZNF333 (R597Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195198	NM_032433.4(ZNF333):c.1822C>T (p.His608Tyr)	ZNF333 (H377Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2615582	NM_032433.4(ZNF333):c.1982G>A (p.Gly661Glu)	ZNF333 (G661E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
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 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 60