ZNF513[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	ABHD1, ADCY3 +321 more	Copy number loss	See cases	GPathogenic
Select item 335548	NM_014748.4(SNX17):c.554_558del	SNX17, ZNF513	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 896993	NM_014748.4(SNX17):c.*572A>T	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897473	NM_014748.4(SNX17):c.*601C>T	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897474	NM_014748.4(SNX17):c.*609C>G	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897475	NM_014748.4(SNX17):c.*652C>T	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 335549	NM_014748.4(SNX17):c.*653G>A	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 897476	NM_014748.4(SNX17):c.*662C>T	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 335550	NM_014748.4(SNX17):c.*692T>C	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 335551	NM_014748.4(SNX17):c.*697C>T	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 897477	NM_014748.4(SNX17):c.*766G>A	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 898629	NM_014748.4(SNX17):c.*772G>A	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 898630	NM_014748.4(SNX17):c.*797G>A	SNX17, ZNF513	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 898631	NM_014748.4(SNX17):c.*811G>A	ZNF513, SNX17	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
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 provided	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 +2 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 condition	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)	Inborn genetic diseases	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)	Retinal dystrophy +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)	Inborn genetic diseases +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)	Retinitis pigmentosa +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 provided +1 more	GUncertain significance
Select item 1042131	NM_144631.6(ZNF513):c.1466G>C (p.Arg489Pro)	LOC129933376, ZNF513 (R489P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1604251	NM_144631.6(ZNF513):c.1449C>T (p.His483=)	LOC129933376, ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966173	NM_144631.6(ZNF513):c.1444G>A (p.Gly482Ser)	LOC129933376, ZNF513 (G420S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 898633	NM_144631.6(ZNF513):c.1443G>A (p.Thr481=)	LOC129933376, ZNF513	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898634	NM_144631.6(ZNF513):c.1432G>A (p.Ala478Thr)	LOC129933376, ZNF513 (A478T +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 2822617	NM_144631.6(ZNF513):c.1424_1431del (p.Ala475fs)	LOC129933376, ZNF513 (A475fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1149986	NM_144631.6(ZNF513):c.1431C>T (p.Cys477=)	LOC129933376, ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1062621	NM_144631.6(ZNF513):c.1418G>A (p.Arg473His)	LOC129933376, ZNF513 (R411H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1655447	NM_144631.6(ZNF513):c.1416C>T (p.Phe472=)	LOC129933376, ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1034849	NM_144631.6(ZNF513):c.1404C>T (p.Gly468=)	LOC129933376, ZNF513	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 837049	NM_144631.6(ZNF513):c.1399A>G (p.Thr467Ala)	LOC129933376, ZNF513 (T405A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983630	NM_144631.6(ZNF513):c.1387A>G (p.Met463Val)	LOC129933376, ZNF513 (M401V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522194	NM_144631.6(ZNF513):c.1381C>T (p.Arg461Cys)	LOC129933376, ZNF513 (R399C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104715	NM_144631.6(ZNF513):c.1377C>T (p.Leu459=)	LOC129933376, ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553162	NM_144631.6(ZNF513):c.1377C>G (p.Leu459=)	LOC129933376, ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668793	NM_144631.6(ZNF513):c.1374C>T (p.Asn458=)	LOC129933376, ZNF513	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415278	NM_144631.6(ZNF513):c.1341C>G (p.Ser447Arg)	LOC129933376, ZNF513 (S385R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362238	NM_144631.6(ZNF513):c.1334G>A (p.Arg445Gln)	LOC129933376, ZNF513 (R445Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908740	NM_144631.6(ZNF513):c.1333C>T (p.Arg445Trp)	LOC129933376, ZNF513 (R445W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1150094	NM_144631.6(ZNF513):c.1320T>A (p.Gly440=)	ZNF513, LOC129933376	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	Inborn genetic diseases	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, Dominant +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)	Inborn genetic diseases	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)	not provided +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)	Inborn genetic diseases +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)	Inborn genetic diseases	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

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