ZNF462[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701575	NC_000009.12:g.106860520T>G	ZNF462	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 3064950	NM_021224.6(ZNF462):c.-31+644G>C	ZNF462	Single nucleotide variant (intron variant)	Weiss-kruszka syndrome	GUncertain significance
Select item 3050921	NM_021224.6(ZNF462):c.84G>A (p.Thr28=)	ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related disorder	GLikely benign
Select item 3056993	NM_021224.6(ZNF462):c.118A>G (p.Asn40Asp)	ZNF462 (N40D)	Single nucleotide variant (missense variant)	ZNF462-related disorder	GLikely benign
Select item 1308258	NM_021224.6(ZNF462):c.122T>C (p.Val41Ala)	ZNF462 (V41A)	Single nucleotide variant (missense variant)	ZNF462-related disorder +1 more	GUncertain significance
Select item 2659361	NM_021224.6(ZNF462):c.144C>T (p.Ser48=)	ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3195918	NM_021224.6(ZNF462):c.145G>A (p.Val49Met)	ZNF462 (V49M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1708735	NM_021224.6(ZNF462):c.173A>C (p.Glu58Ala)	ZNF462 (E58A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2595657	NM_021224.6(ZNF462):c.178T>C (p.Ser60Pro)	ZNF462 (S60P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659362	NM_021224.6(ZNF462):c.181T>A (p.Ser61Thr)	ZNF462 (S61T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505692	NM_021224.6(ZNF462):c.219A>G (p.Ser73=)	ZNF462	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1299321	NM_021224.6(ZNF462):c.220+1G>A	ZNF462	Single nucleotide variant (splice donor variant)	Weiss-kruszka syndrome	GPathogenic
Select item 3195923	NM_021224.6(ZNF462):c.230C>A (p.Ala77Glu)	ZNF462 (A77E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046169	NM_021224.6(ZNF462):c.237A>T (p.Ser79=)	ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related disorder	GLikely benign
Select item 725948	NM_021224.6(ZNF462):c.238T>C (p.Leu80=)	ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related disorder +1 more	GBenign/Likely benign
Select item 2285251	NM_021224.6(ZNF462):c.264C>A (p.His88Gln)	ZNF462 (H88Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570222	NM_021224.6(ZNF462):c.272G>C (p.Gly91Ala)	ZNF462 (G91A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195924	NM_021224.6(ZNF462):c.313A>G (p.Asn105Asp)	ZNF462 (N105D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707789	NM_021224.6(ZNF462):c.388G>C (p.Val130Leu)	ZNF462 (V130L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659363	NM_021224.6(ZNF462):c.410G>A (p.Gly137Glu)	ZNF462 (G137E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2258885	NM_021224.6(ZNF462):c.414T>A (p.Ser138Arg)	ZNF462 (S138R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786914	NM_021224.6(ZNF462):c.441C>A (p.Ser147=)	ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related disorder +1 more	GBenign/Likely benign
Select item 3044979	NM_021224.6(ZNF462):c.465C>T (p.His155=)	ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related disorder	GLikely benign
Select item 2540688	NM_021224.6(ZNF462):c.466G>A (p.Glu156Lys)	ZNF462 (E156K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2671807	NM_021224.6(ZNF462):c.507C>A (p.Tyr169Ter)	ZNF462 (Y169*)	Single nucleotide variant (nonsense)	Weiss-kruszka syndrome	GPathogenic
Select item 2238186	NM_021224.6(ZNF462):c.511T>G (p.Ser171Ala)	ZNF462 (S171A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712033	NM_021224.6(ZNF462):c.577A>G (p.Thr193Ala)	ZNF462 (T193A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3195941	NM_021224.6(ZNF462):c.587C>A (p.Pro196Gln)	ZNF462 (P196Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195943	NM_021224.6(ZNF462):c.604A>G (p.Met202Val)	ZNF462 (M202V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508323	NM_021224.6(ZNF462):c.623C>T (p.Pro208Leu)	ZNF462 (P208L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3024822	NM_021224.6(ZNF462):c.627C>T (p.Pro209=)	ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1299152	NM_021224.6(ZNF462):c.628G>A (p.Val210Ile)	ZNF462 (V210I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659364	NM_021224.6(ZNF462):c.633A>G (p.Ser211=)	ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978158	NM_021224.6(ZNF462):c.635T>C (p.Leu212Pro)	ZNF462 (L212P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3195944	NM_021224.6(ZNF462):c.662C>T (p.Ala221Val)	ZNF462 (A221V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2499557	NM_021224.6(ZNF462):c.718C>T (p.Arg240Ter)	ZNF462 (R240*)	Single nucleotide variant (nonsense)	Weiss-kruszka syndrome	GPathogenic
Select item 3047031	NM_021224.6(ZNF462):c.729T>C (p.Phe243=)	ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related disorder	GLikely benign
Select item 691880	NM_021224.6(ZNF462):c.763C>T (p.Arg255Ter)	ZNF462 (R255*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1309921	NM_021224.6(ZNF462):c.805A>G (p.Met269Val)	ZNF462 (M269V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545075	NM_021224.6(ZNF462):c.831_834del (p.Arg277fs)	ZNF462 (R277fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2388634	NM_021224.6(ZNF462):c.838C>A (p.Gln280Lys)	ZNF462 (Q280K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1954317	NM_021224.6(ZNF462):c.845G>A (p.Gly282Glu)	ZNF462 (G282E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057762	NM_021224.6(ZNF462):c.861T>C (p.Asp287=)	ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related disorder	GLikely benign
Select item 2659365	NM_021224.6(ZNF462):c.863T>G (p.Val288Gly)	ZNF462 (V288G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 691881	NM_021224.6(ZNF462):c.882dup (p.Ser295fs)	ZNF462 (S295fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2331048	NM_021224.6(ZNF462):c.889A>C (p.Thr297Pro)	ZNF462 (T297P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298024	NM_021224.6(ZNF462):c.927C>G (p.Ser309Arg)	ZNF462 (S309R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2659366	NM_021224.6(ZNF462):c.928C>T (p.Arg310Trp)	ZNF462 (R310W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2191203	NM_021224.6(ZNF462):c.928C>G (p.Arg310Gly)	ZNF462 (R310G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2335026	NM_021224.6(ZNF462):c.946A>G (p.Thr316Ala)	ZNF462 (T316A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195950	NM_021224.6(ZNF462):c.982A>G (p.Ile328Val)	ZNF462 (I328V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258884	NM_021224.6(ZNF462):c.1016C>T (p.Ser339Leu)	ZNF462 (S339L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1801864	NM_021224.6(ZNF462):c.1052C>G (p.Pro351Arg)	ZNF462 (P351R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2219399	NM_021224.6(ZNF462):c.1064G>A (p.Gly355Asp)	ZNF462 (G355D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2659367	NM_021224.6(ZNF462):c.1068A>G (p.Leu356=)	ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169978	NM_021224.6(ZNF462):c.1076T>G (p.Leu359Trp)	ZNF462 (L359W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1278398	NM_021224.6(ZNF462):c.1095T>C (p.Tyr365=)	ZNF462	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1712623	NM_021224.6(ZNF462):c.1115A>T (p.Asn372Ile)	ZNF462 (N372I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3195916	NM_021224.6(ZNF462):c.1126G>A (p.Asp376Asn)	ZNF462 (D376N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2671806	NM_021224.6(ZNF462):c.1151del (p.Asn384fs)	ZNF462 (N384fs)	Deletion (frameshift variant)	Weiss-kruszka syndrome	GPathogenic
Select item 3032138	NM_021224.6(ZNF462):c.1157_1158del (p.Asp385_Ser386insTer)	ZNF462	Microsatellite (nonsense)	ZNF462-related disorder	GLikely pathogenic
Select item 1029813	NM_021224.6(ZNF462):c.1173G>C (p.Glu391Asp)	ZNF462 (E391D)	Single nucleotide variant (missense variant)	Weiss-kruszka syndrome	GUncertain significance
Select item 3195917	NM_021224.6(ZNF462):c.1178A>G (p.Asn393Ser)	ZNF462 (N393S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1175501	NM_021224.6(ZNF462):c.1210A>G (p.Met404Val)	ZNF462 (M404V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 452539	NM_021224.6(ZNF462):c.1234_1235insAA (p.Ser412Ter)	ZNF462 (S412*)	Insertion (nonsense)	not provided	GPathogenic
Select item 2438687	NM_021224.6(ZNF462):c.1298G>C (p.Arg433Thr)	ZNF462 (R433T)	Single nucleotide variant (missense variant)	Weiss-kruszka syndrome	GUncertain significance
Select item 2337847	NM_021224.6(ZNF462):c.1319A>T (p.Gln440Leu)	ZNF462 (Q440L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526086	NM_021224.6(ZNF462):c.1351C>T (p.Arg451Ter)	ZNF462 (R451*)	Single nucleotide variant (nonsense)	Weiss-kruszka syndrome	GLikely pathogenic
Select item 2429534	NM_021224.6(ZNF462):c.1444T>C (p.Ser482Pro)	ZNF462 (S482P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714431	NM_021224.6(ZNF462):c.1446G>A (p.Ser482=)	ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related disorder +1 more	GBenign
Select item 2542919	NM_021224.6(ZNF462):c.1460C>T (p.Ala487Val)	ZNF462 (A487V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195919	NM_021224.6(ZNF462):c.1486A>G (p.Thr496Ala)	ZNF462 (T496A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2663446	NM_021224.6(ZNF462):c.1519G>A (p.Glu507Lys)	ZNF462 (E507K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 801363	NM_021224.6(ZNF462):c.1552del (p.Val518fs)	ZNF462 (V518fs)	Deletion (frameshift variant)	Weiss-kruszka syndrome	GPathogenic
Select item 2381010	NM_021224.6(ZNF462):c.1559A>T (p.Tyr520Phe)	ZNF462 (Y520F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026489	NM_021224.6(ZNF462):c.1580G>A (p.Gly527Asp)	ZNF462 (G527D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659368	NM_021224.6(ZNF462):c.1608C>T (p.Pro536=)	ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659369	NM_021224.6(ZNF462):c.1628C>T (p.Pro543Leu)	ZNF462 (P543L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 772913	NM_021224.6(ZNF462):c.1641A>G (p.Pro547=)	ZNF462	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1308101	NM_021224.6(ZNF462):c.1642C>T (p.Pro548Ser)	ZNF462 (P548S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2531601	NM_021224.6(ZNF462):c.1643C>T (p.Pro548Leu)	ZNF462 (P548L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3045926	NM_021224.6(ZNF462):c.1644G>A (p.Pro548=)	ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related disorder	GLikely benign
Select item 2400837	NM_021224.6(ZNF462):c.1646C>T (p.Pro549Leu)	ZNF462 (P549L)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2681668	NM_021224.6(ZNF462):c.1647G>A (p.Pro549=)	ZNF462	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2358887	NM_021224.6(ZNF462):c.1648C>T (p.Pro550Ser)	ZNF462 (P550S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3050015	NM_021224.6(ZNF462):c.1650G>A (p.Pro550=)	ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related disorder	GLikely benign
Select item 1012837	NM_021224.6(ZNF462):c.1679_1696del (p.Leu560_Pro565del)	ZNF462	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2671805	NM_021224.6(ZNF462):c.1690C>T (p.Gln564Ter)	ZNF462 (Q564*)	Single nucleotide variant (nonsense)	Weiss-kruszka syndrome	GPathogenic
Select item 2659370	NM_021224.6(ZNF462):c.1701_1715del (p.Gln567_Pro571del)	ZNF462	Deletion (inframe_deletion)	not provided	GBenign
Select item 3195920	NM_021224.6(ZNF462):c.1709C>T (p.Pro570Leu)	ZNF462 (P570L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504326	NM_021224.6(ZNF462):c.1735C>A (p.Gln579Lys)	ZNF462 (Q579K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722800	NM_021224.6(ZNF462):c.1749_1772del (p.Pro584_Pro591del)	ZNF462	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2569185	NM_021224.6(ZNF462):c.1754C>T (p.Thr585Met)	ZNF462 (T585M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3195921	NM_021224.6(ZNF462):c.1757A>T (p.Gln586Leu)	ZNF462 (Q586L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 817907	NM_021224.6(ZNF462):c.1772_1775del (p.Pro591fs)	ZNF462 (P591fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2659371	NM_021224.6(ZNF462):c.1782C>T (p.Ala594=)	ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2304722	NM_021224.6(ZNF462):c.1783G>A (p.Ala595Thr)	ZNF462 (A595T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2446289	NM_021224.6(ZNF462):c.1834C>G (p.Leu612Val)	ZNF462 (L612V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1076643	NM_021224.6(ZNF462):c.1872_1875del (p.Phe625fs)	ZNF462 (F625fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1465280	NM_021224.6(ZNF462):c.1918C>T (p.Pro640Ser)	ZNF462 (P640S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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