ZNF513[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1487848	NM_144631.6(ZNF513):c.1625G>T (p.Ter542Leu)	ZNF513	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 954448	NM_144631.6(ZNF513):c.1617C>G (p.Asp539Glu)	ZNF513 (D539E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064245	NM_144631.6(ZNF513):c.1616A>G (p.Asp539Gly)	ZNF513 (D477G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813769	NM_144631.6(ZNF513):c.1604C>T (p.Ala535Val)	ZNF513 (A473V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 898632	NM_144631.6(ZNF513):c.1601G>A (p.Arg534Gln)	ZNF513 (R472Q +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 1040152	NM_144631.6(ZNF513):c.1600C>T (p.Arg534Trp)	ZNF513 (R472W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992987	NM_144631.6(ZNF513):c.1594G>A (p.Gly532Ser)	ZNF513 (G532S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969679	NM_144631.6(ZNF513):c.1592C>T (p.Ala531Val)	ZNF513 (A469V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 844742	NM_144631.6(ZNF513):c.1580C>T (p.Ala527Val)	ZNF513 (A527V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882576	NM_144631.6(ZNF513):c.1578A>G (p.Pro526=)	ZNF513	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1043640	NM_144631.6(ZNF513):c.1577C>A (p.Pro526Gln)	ZNF513 (P526Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 860512	NM_144631.6(ZNF513):c.1577C>T (p.Pro526Leu)	ZNF513 (P526L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 335552	NM_144631.6(ZNF513):c.1568G>A (p.Arg523Gln)	ZNF513 (R523Q +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Dominant +3 more	GUncertain significance
Select item 2629910	NM_144631.6(ZNF513):c.1567C>T (p.Arg523Trp)	ZNF513 (R461W +1 more)	Single nucleotide variant (missense variant)	ZNF513-related disorder +1 more	GUncertain significance
Select item 1922128	NM_144631.6(ZNF513):c.1555G>A (p.Val519Ile)	ZNF513 (V519I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863162	NM_144631.6(ZNF513):c.1551C>T (p.Pro517=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2291414	NM_144631.6(ZNF513):c.1549C>T (p.Pro517Ser)	ZNF513 (P455S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2858935	NM_144631.6(ZNF513):c.1544G>C (p.Ser515Thr)	ZNF513 (S515T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125954	NM_144631.6(ZNF513):c.1542T>C (p.His514=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512723	NM_144631.6(ZNF513):c.1538C>T (p.Pro513Leu)	ZNF513 (P513L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353440	NM_144631.6(ZNF513):c.1535C>A (p.Pro512Gln)	ZNF513 (P450Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 962937	NM_144631.6(ZNF513):c.1534C>T (p.Pro512Ser)	ZNF513 (P512S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635050	NM_144631.6(ZNF513):c.1527C>T (p.Gly509=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1481792	NM_144631.6(ZNF513):c.1523A>G (p.Glu508Gly)	ZNF513 (E446G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1055333	NM_144631.6(ZNF513):c.1520_1521del (p.Ala506_Ser507insTer)	ZNF513	Microsatellite (nonsense)	not provided	GUncertain significance
Select item 1944434	NM_144631.6(ZNF513):c.1516G>A (p.Ala506Thr)	ZNF513 (A444T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713932	NM_144631.6(ZNF513):c.1510C>T (p.Leu504Phe)	ZNF513 (L442F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 862924	NM_144631.6(ZNF513):c.1504C>T (p.Pro502Ser)	ZNF513 (P502S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1604040	NM_144631.6(ZNF513):c.1503G>A (p.Gly501=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052944	NM_144631.6(ZNF513):c.1497A>T (p.Ala499=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372636	NM_144631.6(ZNF513):c.1489G>T (p.Gly497Cys)	ZNF513 (G435C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353198	NM_144631.6(ZNF513):c.1489G>A (p.Gly497Ser)	ZNF513 (G435S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734584	NM_144631.6(ZNF513):c.1488C>T (p.His496=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 935975	NM_144631.6(ZNF513):c.1483G>A (p.Gly495Ser)	ZNF513 (G495S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1915810	NM_144631.6(ZNF513):c.1306C>T (p.Arg436Cys)	ZNF513 (R436C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1566520	NM_144631.6(ZNF513):c.1305T>C (p.Gly435=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018066	NM_144631.6(ZNF513):c.1287C>A (p.Ala429=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2334847	NM_144631.6(ZNF513):c.1270G>A (p.Ala424Thr)	ZNF513 (A362T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1644473	NM_144631.6(ZNF513):c.1269T>C (p.Tyr423=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 335553	NM_144631.6(ZNF513):c.1260C>T (p.Leu420=)	ZNF513	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 2495305	NM_144631.6(ZNF513):c.1256C>T (p.Pro419Leu)	ZNF513 (P357L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1945866	NM_144631.6(ZNF513):c.1255C>T (p.Pro419Ser)	ZNF513 (P419S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189095	NM_144631.6(ZNF513):c.1230T>C (p.His410=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 895646	NM_144631.6(ZNF513):c.1225G>A (p.Val409Ile)	ZNF513 (V347I +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 895647	NM_144631.6(ZNF513):c.1224C>T (p.Arg408=)	ZNF513	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 709764	NM_144631.6(ZNF513):c.1224C>A (p.Arg408=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1147689	NM_144631.6(ZNF513):c.1218C>T (p.His406=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1082348	NM_144631.6(ZNF513):c.1209G>C (p.Leu403=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745807	NM_144631.6(ZNF513):c.1209G>A (p.Leu403=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809962	NM_144631.6(ZNF513):c.1198C>T (p.Leu400=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801545	NM_144631.6(ZNF513):c.1198C>G (p.Leu400Val)	ZNF513 (L400V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1148878	NM_144631.6(ZNF513):c.1188C>T (p.Ala396=)	ZNF513	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 1608830	NM_144631.6(ZNF513):c.1185T>C (p.Tyr395=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414639	NM_144631.6(ZNF513):c.1180C>G (p.Pro394Ala)	ZNF513 (P394A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999322	NM_144631.6(ZNF513):c.1176C>T (p.Arg392=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939654	NM_144631.6(ZNF513):c.1175G>A (p.Arg392His)	ZNF513 (R392H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506097	NM_144631.6(ZNF513):c.1174C>T (p.Arg392Cys)	ZNF513 (R330C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2291859	NM_144631.6(ZNF513):c.1171G>C (p.Ala391Pro)	ZNF513 (A329P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2898223	NM_144631.6(ZNF513):c.1170C>T (p.Cys390=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 849758	NM_144631.6(ZNF513):c.1166G>A (p.Arg389His)	ZNF513 (R327H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481060	NM_144631.6(ZNF513):c.1165C>T (p.Arg389Cys)	ZNF513 (R327C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775707	NM_144631.6(ZNF513):c.1164C>T (p.Phe388=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1142611	NM_144631.6(ZNF513):c.1152T>C (p.Gly384=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763541	NM_144631.6(ZNF513):c.1143A>G (p.Thr381=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1975542	NM_144631.6(ZNF513):c.1139A>G (p.Lys380Arg)	ZNF513 (K318R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1126114	NM_144631.6(ZNF513):c.1131G>A (p.Arg377=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876458	NM_144631.6(ZNF513):c.1129C>T (p.Arg377Trp)	ZNF513 (R377W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748053	NM_144631.6(ZNF513):c.1116C>A (p.Pro372=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3028782	NM_144631.6(ZNF513):c.1098C>T (p.Pro366=)	ZNF513	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 1502593	NM_144631.6(ZNF513):c.1096C>T (p.Pro366Ser)	ZNF513 (P304S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025226	NM_144631.6(ZNF513):c.1036_1072del (p.Gly346fs)	ZNF513 (G284fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 841263	NM_144631.6(ZNF513):c.1060_1067del (p.Gln353_Gly354insTer)	ZNF513	Microsatellite (nonsense)	not provided	GUncertain significance
Select item 848021	NM_144631.6(ZNF513):c.1066A>G (p.Ser356Gly)	ZNF513 (S356G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908909	NM_144631.6(ZNF513):c.1065C>T (p.Pro355=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152537	NM_144631.6(ZNF513):c.1059G>A (p.Gln353=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849154	NM_144631.6(ZNF513):c.1057C>G (p.Gln353Glu)	ZNF513 (Q353E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1058516	NM_144631.6(ZNF513):c.1054C>T (p.Pro352Ser)	ZNF513 (P290S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490113	NM_144631.6(ZNF513):c.1042G>A (p.Ala348Thr)	ZNF513 (A348T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485195	NM_144631.6(ZNF513):c.1039G>A (p.Gly347Ser)	ZNF513 (G347S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821340	NM_144631.6(ZNF513):c.1034G>A (p.Gly345Glu)	ZNF513 (G345E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950078	NM_144631.6(ZNF513):c.1022GAG[1] (p.Gly342del)	ZNF513 (G280del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1945426	NM_144631.6(ZNF513):c.1022G>A (p.Arg341Gln)	ZNF513 (R279Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2636164	NM_144631.6(ZNF513):c.1021C>T (p.Arg341Ter)	ZNF513 (R279* +1 more)	Single nucleotide variant (nonsense)	ZNF513-related disorder	GUncertain significance
Select item 1360892	NM_144631.6(ZNF513):c.1017C>T (p.Cys339=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 28	NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg)	ZNF513 (C339R +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Dominant +1 more	GUncertain significance
Select item 1035211	NM_144631.6(ZNF513):c.1012C>A (p.Arg338Ser)	ZNF513 (R338S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853891	NM_144631.6(ZNF513):c.1012C>T (p.Arg338Cys)	ZNF513 (R338C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730388	NM_144631.6(ZNF513):c.1004T>C (p.Met335Thr)	ZNF513 (M273T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1659028	NM_144631.6(ZNF513):c.999T>C (p.Ala333=)	ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 960640	NM_144631.6(ZNF513):c.994G>A (p.Gly332Arg)	ZNF513 (G332R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 954649	NM_144631.6(ZNF513):c.989G>A (p.Arg330Gln)	ZNF513 (R330Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522799	NM_144631.6(ZNF513):c.988C>T (p.Arg330Trp)	ZNF513 (R330W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1044462	NM_144631.6(ZNF513):c.985A>G (p.Ser329Gly)	ZNF513 (S267G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 895648	NM_144631.6(ZNF513):c.984T>A (p.Gly328=)	ZNF513	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1379117	NM_144631.6(ZNF513):c.982G>A (p.Gly328Ser)	ZNF513 (G266S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3196326	NM_144631.6(ZNF513):c.981G>T (p.Glu327Asp)	ZNF513 (E265D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1355301	NM_144631.6(ZNF513):c.977G>A (p.Gly326Asp)	ZNF513 (G264D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1465266	NM_144631.6(ZNF513):c.974A>C (p.Glu325Ala)	ZNF513 (E263A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910695	NM_144631.6(ZNF513):c.952G>A (p.Gly318Ser)	ZNF513 (G318S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 335554	NM_144631.6(ZNF513):c.950G>A (p.Arg317Gln)	ZNF513 (R317Q +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance

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