ZNF462[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	LOC130002266, LOC130002267 +109 more	Copy number loss	Weiss-Kruszka syndrome	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 152170	GRCh38/hg38 9q31.1-31.2(chr9:104810184-107473921)x3	ABCA1, CT70 +56 more	Copy number gain	See cases	GUncertain significance
Select item 148954	GRCh38/hg38 9q31.2(chr9:106178482-107049249)x3	LINC01505, LOC126860715 +7 more	Copy number gain	See cases	GLikely benign
Select item 149094	GRCh38/hg38 9q31.2(chr9:106830931-107428889)x3	LINC01509, LOC121331341 +10 more	Copy number gain	See cases	GLikely benign
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 3251284	NM_021224.6(ZNF462):c.42G>A (p.Pro14=)	ZNF462	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3258165	NM_021224.6(ZNF462):c.100A>G (p.Thr34Ala)	ZNF462 (T34A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	not provided	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)	not provided	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 3369137	NM_021224.6(ZNF462):c.279delinsCATA (p.Tyr93_Gly94insIle)	ZNF462	Indel (inframe_insertion)	not provided	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)	not provided +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)	not provided	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 3349351	NM_021224.6(ZNF462):c.590C>A (p.Pro197His)	ZNF462 (P197H)	Single nucleotide variant (missense variant)	ZNF462-related disorder	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 3370096	NM_021224.6(ZNF462):c.812A>G (p.Lys271Arg)	ZNF462 (K271R)	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 3258171	NM_021224.6(ZNF462):c.960C>G (p.Phe320Leu)	ZNF462 (F320L)	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)	not provided +1 more	GBenign/Likely benign
Select item 3365751	NM_021224.6(ZNF462):c.1085G>A (p.Arg362Lys)	ZNF462 (R362K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3345808	NM_021224.6(ZNF462):c.1141_1227delinsTGCT (p.Ser381fs)	ZNF462 (S381fs)	Indel (frameshift variant)	ZNF462-related disorder	GLikely pathogenic
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)	Weiss-Kruszka syndrome +1 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 3258169	NM_021224.6(ZNF462):c.1422A>C (p.Glu474Asp)	ZNF462 (E474D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3342209	NM_021224.6(ZNF462):c.1433C>A (p.Thr478Asn)	ZNF462 (T478N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429534	NM_021224.6(ZNF462):c.1444T>C (p.Ser482Pro)	ZNF462 (S482P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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