ClinVar for Gene (Select 58499) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378254	NM_021224.6(ZNF462):c.3788G>A (p.Arg1263Gln)	ZNF462 (R1263Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3377166	NM_021224.6(ZNF462):c.2987del (p.Arg996fs)	ZNF462 (R996fs)	Deletion (frameshift variant)	Weiss-Kruszka syndrome	GPathogenic
Select item 3376355	NM_021224.6(ZNF462):c.2402A>G (p.Tyr801Cys)	ZNF462 (Y801C)	Single nucleotide variant (missense variant)	Weiss-Kruszka syndrome	GUncertain significance
Select item 3376290	NM_021224.6(ZNF462):c.3111_3131delinsA (p.Phe1037fs)	ZNF462 (F1037fs)	Indel (frameshift variant)	Weiss-Kruszka syndrome	GPathogenic
Select item 3376053	NM_021224.6(ZNF462):c.3743T>C (p.Val1248Ala)	ZNF462 (V1248A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375972	NM_021224.6(ZNF462):c.5446G>A (p.Glu1816Lys)	ZNF462 (E1816K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375887	NM_021224.6(ZNF462):c.3167A>G (p.Glu1056Gly)	ZNF462 (E1056G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375711	NM_021224.6(ZNF462):c.6119T>C (p.Leu2040Ser)	ZNF462 (L1175S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375387	NM_021224.6(ZNF462):c.1928A>C (p.Asn643Thr)	ZNF462 (N643T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3373634	NM_021224.6(ZNF462):c.6902G>A (p.Arg2301His)	LOC340512, ZNF462 (R1436H +1 more)	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 3369834	NM_021224.6(ZNF462):c.6585C>G (p.Phe2195Leu)	ZNF462 (F1330L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369735	NM_021224.6(ZNF462):c.5951G>T (p.Cys1984Phe)	ZNF462 (C1119F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369137	NM_021224.6(ZNF462):c.279delinsCATA (p.Tyr93_Gly94insIle)	ZNF462	Indel (inframe_insertion)	not provided	GUncertain significance
Select item 3367788	NM_021224.6(ZNF462):c.4882A>G (p.Ser1628Gly)	ZNF462 (S1628G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366936	NM_021224.6(ZNF462):c.7365_7366del (p.Glu2455fs)	LOC340512, ZNF462 (E1590fs +1 more)	Microsatellite (frameshift variant)	Weiss-Kruszka syndrome	GLikely pathogenic
Select item 3366085	NM_021224.6(ZNF462):c.6346C>G (p.Arg2116Gly)	ZNF462 (R1251G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3364211	NM_021224.6(ZNF462):c.7205C>T (p.Ser2402Phe)	LOC340512, ZNF462 (S1537F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364088	NM_021224.6(ZNF462):c.3533G>T (p.Arg1178Leu)	ZNF462 (R1178L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363860	NM_021224.6(ZNF462):c.6757G>T (p.Asp2253Tyr)	ZNF462 (D1388Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363635	NM_021224.6(ZNF462):c.4724G>A (p.Gly1575Asp)	ZNF462 (G1575D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362335	NM_021224.6(ZNF462):c.4759G>T (p.Gly1587Cys)	ZNF462 (G1587C)	Single nucleotide variant (missense variant +1 more)	Weiss-Kruszka syndrome	GUncertain significance
Select item 3361848	NM_021224.6(ZNF462):c.2900A>T (p.Gln967Leu)	ZNF462 (Q967L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361634	NM_021224.6(ZNF462):c.5954A>C (p.Asn1985Thr)	ZNF462 (N1120T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361422	NM_021224.6(ZNF462):c.3625C>T (p.Leu1209Phe)	ZNF462 (L1209F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361094	NM_021224.6(ZNF462):c.5322C>A (p.Phe1774Leu)	ZNF462 (F1774L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360002	NM_021224.6(ZNF462):c.1635ACC[2] (p.Pro554del)	ZNF462 (P554del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3359923	NM_021224.6(ZNF462):c.6713A>G (p.His2238Arg)	ZNF462 (H1373R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359858	NM_021224.6(ZNF462):c.1937A>G (p.Asp646Gly)	ZNF462 (D646G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359554	NM_021224.6(ZNF462):c.637C>A (p.Gln213Lys)	ZNF462 (Q213K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359358	NM_021224.6(ZNF462):c.2244C>G (p.Ile748Met)	ZNF462 (I748M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359072	NM_021224.6(ZNF462):c.1975C>T (p.Gln659Ter)	ZNF462 (Q659*)	Single nucleotide variant (nonsense)	Weiss-Kruszka syndrome	GPathogenic
Select item 3355723	NM_021224.6(ZNF462):c.6810T>C (p.Ile2270=)	ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related disorder	GLikely benign
Select item 3354466	NM_021224.6(ZNF462):c.7121A>C (p.Lys2374Thr)	LOC340512, ZNF462 (K1509T +1 more)	Single nucleotide variant (missense variant)	ZNF462-related disorder	GUncertain significance
Select item 3353556	NM_021224.6(ZNF462):c.2890G>A (p.Val964Met)	ZNF462 (V964M)	Single nucleotide variant (missense variant)	ZNF462-related disorder	GUncertain significance
Select item 3352817	NM_021224.6(ZNF462):c.3795C>G (p.Leu1265=)	ZNF462	Single nucleotide variant (synonymous variant +1 more)	ZNF462-related disorder	GLikely benign
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 3347356	NM_021224.6(ZNF462):c.2438C>A (p.Ser813Tyr)	ZNF462 (S813Y)	Single nucleotide variant (missense variant)	ZNF462-related disorder	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 3344888	NM_021224.6(ZNF462):c.1726C>T (p.Pro576Ser)	ZNF462 (P576S)	Single nucleotide variant (missense variant)	ZNF462-related disorder	GUncertain significance
Select item 3342257	NM_021224.6(ZNF462):c.4891C>T (p.Gln1631Ter)	ZNF462 (Q1631*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3342256	NM_021224.6(ZNF462):c.6696-2A>C	ZNF462	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast	GPathogenic
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 3341478	NM_021224.6(ZNF462):c.3287_3306del (p.Met1096fs)	ZNF462 (M1096fs)	Deletion (frameshift variant +1 more)	Weiss-Kruszka syndrome	GLikely pathogenic
Select item 3340794	NM_021224.6(ZNF462):c.4616C>T (p.Pro1539Leu)	ZNF462 (P1539L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337759	NM_021224.6(ZNF462):c.5999C>A (p.Ser2000Ter)	ZNF462 (S1135* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3336254	NM_021224.6(ZNF462):c.3185G>A (p.Arg1062Lys)	ZNF462 (R1062K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258179	NM_021224.6(ZNF462):c.3207G>A (p.Met1069Ile)	ZNF462 (M1069I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258178	NM_021224.6(ZNF462):c.6146_6150dup (p.His2051fs)	ZNF462 (H2051fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3258177	NM_021224.6(ZNF462):c.2680G>A (p.Asp894Asn)	ZNF462 (D894N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258176	NM_021224.6(ZNF462):c.4076C>T (p.Ser1359Phe)	ZNF462 (S1359F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3258175	NM_021224.6(ZNF462):c.6243T>G (p.His2081Gln)	ZNF462 (H1216Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258174	NM_021224.6(ZNF462):c.2989G>A (p.Gly997Ser)	ZNF462 (G997S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258173	NM_021224.6(ZNF462):c.7178C>A (p.Ala2393Asp)	LOC340512, ZNF462 (A1528D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258172	NM_021224.6(ZNF462):c.1744C>G (p.Pro582Ala)	ZNF462 (P582A)	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 3258169	NM_021224.6(ZNF462):c.1422A>C (p.Glu474Asp)	ZNF462 (E474D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3258168	NM_021224.6(ZNF462):c.3309A>C (p.Gln1103His)	ZNF462 (Q1103H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3258167	NM_021224.6(ZNF462):c.3310C>A (p.Pro1104Thr)	ZNF462 (P1104T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3258166	NM_021224.6(ZNF462):c.7265C>T (p.Ala2422Val)	LOC340512, ZNF462 (A2422V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3257519	NM_021224.6(ZNF462):c.4601A>G (p.Tyr1534Cys)	ZNF462 (Y1534C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3257171	NM_021224.6(ZNF462):c.4654G>A (p.Val1552Ile)	ZNF462 (V1552I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3257115	NM_021224.6(ZNF462):c.2196C>T (p.Val732=)	ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3256773	NM_021224.6(ZNF462):c.1615C>T (p.Gln539Ter)	ZNF462 (Q539*)	Single nucleotide variant (nonsense)	Weiss-Kruszka syndrome	GLikely pathogenic
Select item 3254949	NM_021224.6(ZNF462):c.1937_1940del (p.Asp646fs)	ZNF462 (D646fs)	Microsatellite (frameshift variant)	Weiss-Kruszka syndrome	GPathogenic
Select item 3254946	NM_021224.6(ZNF462):c.5284C>G (p.Arg1762Gly)	ZNF462 (R1762G)	Single nucleotide variant (missense variant +1 more)	Weiss-Kruszka syndrome	GUncertain significance
Select item 3254945	NM_021224.6(ZNF462):c.2760C>G (p.His920Gln)	ZNF462 (H920Q)	Single nucleotide variant (missense 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 3250844	NM_021224.6(ZNF462):c.6105T>C (p.Ala2035=)	ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239514	NM_021224.6(ZNF462):c.4784A>G (p.His1595Arg)	ZNF462 (H1595R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239070	NM_021224.6(ZNF462):c.4170A>G (p.Ala1390=)	ZNF462	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234855	NM_021224.6(ZNF462):c.7505A>G (p.Glu2502Gly)	LOC340512, ZNF462 (E1637G +1 more)	Single nucleotide variant (missense variant)	Weiss-Kruszka syndrome	GUncertain significance
Select item 3234590	NM_021224.6(ZNF462):c.3716G>A (p.Arg1239Gln)	ZNF462 (R1239Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3233666	NM_021224.6(ZNF462):c.4036G>A (p.Ala1346Thr)	ZNF462 (A1346T)	Single nucleotide variant (missense variant +1 more)	not specified	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 3195949	NM_021224.6(ZNF462):c.7490T>C (p.Leu2497Pro)	LOC340512, ZNF462 (L2497P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195948	NM_021224.6(ZNF462):c.7384A>C (p.Lys2462Gln)	LOC340512, ZNF462 (K1597Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195947	NM_021224.6(ZNF462):c.7177G>T (p.Ala2393Ser)	LOC340512, ZNF462 (A2393S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3195946	NM_021224.6(ZNF462):c.6878A>G (p.Lys2293Arg)	LOC340512, ZNF462 (K1428R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195945	NM_021224.6(ZNF462):c.6631C>T (p.Arg2211Trp)	ZNF462 (R1346W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3195943	NM_021224.6(ZNF462):c.604A>G (p.Met202Val)	ZNF462 (M202V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195942	NM_021224.6(ZNF462):c.6001G>C (p.Ala2001Pro)	ZNF462 (A2001P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3195940	NM_021224.6(ZNF462):c.5656C>T (p.Arg1886Cys)	ZNF462 (R1886C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3195939	NM_021224.6(ZNF462):c.5639T>C (p.Ile1880Thr)	ZNF462 (I1880T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3195938	NM_021224.6(ZNF462):c.5254G>A (p.Asp1752Asn)	ZNF462 (D1752N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3195937	NM_021224.6(ZNF462):c.5230A>G (p.Ile1744Val)	ZNF462 (I1744V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3195936	NM_021224.6(ZNF462):c.4958A>C (p.His1653Pro)	ZNF462 (H1653P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3195935	NM_021224.6(ZNF462):c.4927C>T (p.Pro1643Ser)	ZNF462 (P1643S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3195934	NM_021224.6(ZNF462):c.4064C>T (p.Pro1355Leu)	ZNF462 (P1355L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3195931	NM_021224.6(ZNF462):c.3607C>T (p.Arg1203Trp)	ZNF462 (R1203W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3195930	NM_021224.6(ZNF462):c.3305dup (p.Gln1103fs)	ZNF462 (Q1103fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 3195929	NM_021224.6(ZNF462):c.3299C>T (p.Pro1100Leu)	ZNF462 (P1100L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3195927	NM_021224.6(ZNF462):c.3227C>G (p.Ser1076Cys)	ZNF462 (S1076C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195926	NM_021224.6(ZNF462):c.3221G>T (p.Arg1074Met)	ZNF462 (R1074M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195925	NM_021224.6(ZNF462):c.3203G>A (p.Arg1068Gln)	ZNF462 (R1068Q)	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

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