ClinVar Miner

List of variants in gene ZFYVE26 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter) rs118204049 0.00003
NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter) rs558285072 0.00002
NM_015346.4(ZFYVE26):c.5791-6G>A rs771906344 0.00002
NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter) rs200832994 0.00002
NM_015346.4(ZFYVE26):c.150dup (p.Glu51fs) rs754133842 0.00001
NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter) rs981804211 0.00001
NM_015346.4(ZFYVE26):c.2620C>T (p.Gln874Ter) rs1393427823 0.00001
NM_015346.4(ZFYVE26):c.2777del (p.Ser926fs) rs1300333437 0.00001
NM_015346.4(ZFYVE26):c.2795del (p.Leu932fs) rs765748845 0.00001
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter) rs988442865 0.00001
NM_015346.4(ZFYVE26):c.3693C>A (p.Cys1231Ter) rs769672677 0.00001
NM_015346.4(ZFYVE26):c.4114_4115insGAAGGGC (p.Ala1372fs) rs950356390 0.00001
NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter) rs370828455 0.00001
NM_015346.4(ZFYVE26):c.4936C>T (p.Arg1646Ter) rs768366199 0.00001
NM_015346.4(ZFYVE26):c.5715del (p.Asp1906fs) rs868672014 0.00001
NM_015346.4(ZFYVE26):c.6141C>A (p.Tyr2047Ter) rs1006249036 0.00001
NM_015346.4(ZFYVE26):c.6144C>A (p.Tyr2048Ter) rs756042888 0.00001
NM_015346.4(ZFYVE26):c.6296dup (p.Asn2100fs) rs1555394376 0.00001
NM_015346.4(ZFYVE26):c.7128+2T>A rs1049504575 0.00001
NC_000014.8:g.(?_68246948)_(68250252_?)del
NC_000014.8:g.(?_68251041)_(68282690_?)del
NC_000014.8:g.(?_68256042)_(68282690_?)del
NC_000014.8:g.(?_68280683)_(68282680_?)del
NC_000014.8:g.(?_68282477)_(68282690_?)del
NC_000014.9:g.(?_67789325)_(67790783_?)del
NC_000014.9:g.(?_67793598)_(67794249_?)del
NC_000014.9:g.(?_67813976)_(67815973_?)del
NM_015346.4(ZFYVE26):c.1003_1012del (p.Leu335fs)
NM_015346.4(ZFYVE26):c.1093del (p.Leu365fs)
NM_015346.4(ZFYVE26):c.1129del (p.Cys377fs) rs2140250002
NM_015346.4(ZFYVE26):c.112C>T (p.Gln38Ter) rs2140260878
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs) rs1190463308
NM_015346.4(ZFYVE26):c.1354del (p.Thr452fs) rs2140248598
NM_015346.4(ZFYVE26):c.1414A>T (p.Lys472Ter)
NM_015346.4(ZFYVE26):c.1488_1491del (p.Leu497fs)
NM_015346.4(ZFYVE26):c.1491_1492del (p.Tyr498fs)
NM_015346.4(ZFYVE26):c.1494C>G (p.Tyr498Ter)
NM_015346.4(ZFYVE26):c.1544C>A (p.Ser515Ter) rs2040090240
NM_015346.4(ZFYVE26):c.1558C>T (p.Gln520Ter)
NM_015346.4(ZFYVE26):c.156del (p.Asp52fs)
NM_015346.4(ZFYVE26):c.1630_1631del (p.Ser544fs)
NM_015346.4(ZFYVE26):c.1713C>A (p.Cys571Ter)
NM_015346.4(ZFYVE26):c.1742_1751dup (p.Thr585fs)
NM_015346.4(ZFYVE26):c.1792del (p.Asp598fs) rs748149642
NM_015346.4(ZFYVE26):c.1797T>G (p.Tyr599Ter)
NM_015346.4(ZFYVE26):c.1861C>T (p.Gln621Ter) rs1594930532
NM_015346.4(ZFYVE26):c.1955_1956del (p.Glu652fs)
NM_015346.4(ZFYVE26):c.1966dup (p.Ser656fs) rs2140242999
NM_015346.4(ZFYVE26):c.1971C>G (p.Tyr657Ter) rs2040001177
NM_015346.4(ZFYVE26):c.1973del (p.Pro658fs) rs2140242980
NM_015346.4(ZFYVE26):c.2003T>G (p.Leu668Ter) rs2140242947
NM_015346.4(ZFYVE26):c.2040del (p.Asp681fs)
NM_015346.4(ZFYVE26):c.2040dup (p.Asp681Ter)
NM_015346.4(ZFYVE26):c.2083C>T (p.Gln695Ter) rs2039997721
NM_015346.4(ZFYVE26):c.2114dup (p.Pro705_Glu706insTer) rs1279863038
NM_015346.4(ZFYVE26):c.2115del (p.Glu706fs)
NM_015346.4(ZFYVE26):c.2141del (p.Ser714fs)
NM_015346.4(ZFYVE26):c.2251del (p.Glu751fs) rs2140242274
NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter) rs1057518016
NM_015346.4(ZFYVE26):c.2263C>T (p.Arg755Ter) rs1297072049
NM_015346.4(ZFYVE26):c.2271C>G (p.Tyr757Ter) rs1167190644
NM_015346.4(ZFYVE26):c.231G>A (p.Trp77Ter) rs140354725
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter) rs941230062
NM_015346.4(ZFYVE26):c.2404G>T (p.Gly802Ter) rs371660600
NM_015346.4(ZFYVE26):c.2450del (p.Leu817fs) rs768176054
NM_015346.4(ZFYVE26):c.2451_2452insGTCTATAGGAGCTTGTGTTTTGCTGTAGAAGGAGCAGCAGGTGTCATAGTTATTCATTATCCTCTGTCTCTAACTACACAGATCTTGGCTGTCAAGCCAACTTCACACTTCCTACTCTATAAGGAGCTGATAATTGACTTTCTCTCTTCTTCCCAATACCTGTAGATGGCCGAGACTACAGG (p.His818delinsValTyrArgSerLeuCysPheAlaValGluGlyAlaAlaGlyValIleValIleHisTyrProLeuSerLeuThrThrGlnIleLeuAlaValLysProThrSerHisPheLeuLeuTyrLysGluLeuIleIleAspPheLeuSerSerSerGlnTyrLeuTer)
NM_015346.4(ZFYVE26):c.2458del (p.His820fs) rs2140237876
NM_015346.4(ZFYVE26):c.2504C>G (p.Ser835Ter) rs2140237785
NM_015346.4(ZFYVE26):c.250del (p.Glu84fs)
NM_015346.4(ZFYVE26):c.2591C>G (p.Ser864Ter)
NM_015346.4(ZFYVE26):c.2596G>T (p.Glu866Ter)
NM_015346.4(ZFYVE26):c.2625del (p.Glu875_Val876insTer) rs1555398241
NM_015346.4(ZFYVE26):c.2639T>C (p.Leu880Pro) rs2039789225
NM_015346.4(ZFYVE26):c.2675C>G (p.Ser892Ter) rs2140234028
NM_015346.4(ZFYVE26):c.2684_2700dup (p.Arg901fs) rs2039786680
NM_015346.4(ZFYVE26):c.2712del (p.Ser904fs)
NM_015346.4(ZFYVE26):c.2792del (p.Lys931fs) rs752905387
NM_015346.4(ZFYVE26):c.2830C>T (p.Gln944Ter)
NM_015346.4(ZFYVE26):c.2955del (p.Leu984_Trp985insTer)
NM_015346.4(ZFYVE26):c.3022C>T (p.Arg1008Ter) rs766888372
NM_015346.4(ZFYVE26):c.3061C>T (p.Arg1021Ter) rs2039651443
NM_015346.4(ZFYVE26):c.308del (p.Glu103fs) rs2140253820
NM_015346.4(ZFYVE26):c.3182del (p.Ile1061fs) rs1257825464
NM_015346.4(ZFYVE26):c.3253C>T (p.Gln1085Ter) rs2140227651
NM_015346.4(ZFYVE26):c.3256C>T (p.Gln1086Ter) rs2140227633
NM_015346.4(ZFYVE26):c.327del (p.Asp110fs)
NM_015346.4(ZFYVE26):c.3340C>T (p.Gln1114Ter) rs1329201909
NM_015346.4(ZFYVE26):c.3349C>T (p.Gln1117Ter) rs2140226621
NM_015346.4(ZFYVE26):c.3373del (p.His1125fs) rs878855011
NM_015346.4(ZFYVE26):c.3403C>T (p.Gln1135Ter) rs2039616151
NM_015346.4(ZFYVE26):c.3447_3466del (p.Met1149fs) rs2039613696
NM_015346.4(ZFYVE26):c.3593_3594dup (p.Leu1199fs) rs2039593666
NM_015346.4(ZFYVE26):c.35C>A (p.Ser12Ter) rs200174594
NM_015346.4(ZFYVE26):c.3610C>T (p.Gln1204Ter) rs759856890
NM_015346.4(ZFYVE26):c.363+1G>A rs935301743
NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG (p.Ala1215fs) rs773333879
NM_015346.4(ZFYVE26):c.36_46del (p.Gln13fs) rs2140261040
NM_015346.4(ZFYVE26):c.3853G>T (p.Glu1285Ter) rs2140223564
NM_015346.4(ZFYVE26):c.385C>T (p.Gln129Ter)
NM_015346.4(ZFYVE26):c.3935C>A (p.Ser1312Ter) rs752283089
NM_015346.4(ZFYVE26):c.3980T>G (p.Leu1327Ter) rs1594913346
NM_015346.4(ZFYVE26):c.4025del (p.Arg1342fs) rs2140223189
NM_015346.4(ZFYVE26):c.4096_4099del (p.Phe1366fs) rs774867891
NM_015346.4(ZFYVE26):c.4121G>A (p.Trp1374Ter) rs2140222986
NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter) rs774809466
NM_015346.4(ZFYVE26):c.4144C>T (p.Gln1382Ter) rs1454587963
NM_015346.4(ZFYVE26):c.4147C>T (p.Gln1383Ter) rs2140222938
NM_015346.4(ZFYVE26):c.4182G>A (p.Trp1394Ter) rs2039543383
NM_015346.4(ZFYVE26):c.4291C>T (p.Gln1431Ter) rs2140222661
NM_015346.4(ZFYVE26):c.4359T>A (p.Cys1453Ter) rs1594912625
NM_015346.4(ZFYVE26):c.4384del (p.Trp1462fs) rs2140220785
NM_015346.4(ZFYVE26):c.440del (p.Pro147fs)
NM_015346.4(ZFYVE26):c.4455del (p.Trp1485fs) rs1566881181
NM_015346.4(ZFYVE26):c.4496C>A (p.Ser1499Ter)
NM_015346.4(ZFYVE26):c.4599G>A (p.Trp1533Ter) rs2140219010
NM_015346.4(ZFYVE26):c.4608G>A (p.Trp1536Ter) rs2140218992
NM_015346.4(ZFYVE26):c.4633G>T (p.Glu1545Ter) rs763869212
NM_015346.4(ZFYVE26):c.4640_4643del (p.Pro1547fs)
NM_015346.4(ZFYVE26):c.4643C>G (p.Ser1548Ter) rs1594910045
NM_015346.4(ZFYVE26):c.4767dup (p.Glu1590fs) rs2140215707
NM_015346.4(ZFYVE26):c.4864_4865del (p.His1621_Thr1622insTer) rs1594906944
NM_015346.4(ZFYVE26):c.4951C>T (p.Gln1651Ter)
NM_015346.4(ZFYVE26):c.4996C>T (p.Gln1666Ter)
NM_015346.4(ZFYVE26):c.5028dup (p.Asn1677Ter) rs2140212599
NM_015346.4(ZFYVE26):c.5036del (p.Leu1679fs) rs753426920
NM_015346.4(ZFYVE26):c.5050C>T (p.Gln1684Ter) rs2039333225
NM_015346.4(ZFYVE26):c.5111del (p.Leu1704fs) rs2140212384
NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter) rs1214483973
NM_015346.4(ZFYVE26):c.5254C>T (p.Gln1752Ter)
NM_015346.4(ZFYVE26):c.5254del (p.Gln1752fs) rs1272539937
NM_015346.4(ZFYVE26):c.5278_5281dup (p.Arg1761delinsThrTer) rs2039304656
NM_015346.4(ZFYVE26):c.529G>T (p.Glu177Ter) rs2040215878
NM_015346.4(ZFYVE26):c.5355_5376dup (p.Pro1793fs) rs2140207535
NM_015346.4(ZFYVE26):c.5358del (p.Ser1787fs) rs2039228359
NM_015346.4(ZFYVE26):c.5374C>T (p.Gln1792Ter)
NM_015346.4(ZFYVE26):c.5383C>T (p.Gln1795Ter) rs1015483969
NM_015346.4(ZFYVE26):c.5399del (p.Pro1800fs)
NM_015346.4(ZFYVE26):c.5415del (p.Arg1806fs)
NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter) rs387907057
NM_015346.4(ZFYVE26):c.5426G>A (p.Trp1809Ter) rs1594900921
NM_015346.4(ZFYVE26):c.5442_5443del (p.Ser1816fs) rs2140207359
NM_015346.4(ZFYVE26):c.5621+1G>A
NM_015346.4(ZFYVE26):c.5621+2T>G
NM_015346.4(ZFYVE26):c.5690C>A (p.Ser1897Ter)
NM_015346.4(ZFYVE26):c.5694dup (p.Val1899fs) rs2039098098
NM_015346.4(ZFYVE26):c.5698del (p.Val1899_Val1900insTer) rs2140201355
NM_015346.4(ZFYVE26):c.5710A>T (p.Lys1904Ter) rs2140201330
NM_015346.4(ZFYVE26):c.5729G>A (p.Trp1910Ter)
NM_015346.4(ZFYVE26):c.5844del (p.Ile1948fs) rs2140199559
NM_015346.4(ZFYVE26):c.5857C>T (p.Gln1953Ter) rs2140199533
NM_015346.4(ZFYVE26):c.5870del (p.His1957fs)
NM_015346.4(ZFYVE26):c.5884_5894delinsAATC (p.Ser1962fs) rs2039058807
NM_015346.4(ZFYVE26):c.5919del (p.Leu1974fs) rs2140199396
NM_015346.4(ZFYVE26):c.5941C>T (p.Gln1981Ter)
NM_015346.4(ZFYVE26):c.6011+1del rs2140199204
NM_015346.4(ZFYVE26):c.6031del (p.Val2011fs)
NM_015346.4(ZFYVE26):c.6035del (p.Leu2012fs)
NM_015346.4(ZFYVE26):c.6112del (p.Arg2037_Leu2038insTer) rs2140194701
NM_015346.4(ZFYVE26):c.6147del (p.Gln2049fs)
NM_015346.4(ZFYVE26):c.6338dup (p.Glu2114fs)
NM_015346.4(ZFYVE26):c.6350dup (p.Arg2118fs)
NM_015346.4(ZFYVE26):c.6360del (p.Phe2120fs) rs2140193931
NM_015346.4(ZFYVE26):c.636del (p.Gly213_Val214insTer)
NM_015346.4(ZFYVE26):c.6384C>A (p.Tyr2128Ter) rs2140192948
NM_015346.4(ZFYVE26):c.6390del (p.Thr2131fs) rs2140192941
NM_015346.4(ZFYVE26):c.6424C>T (p.Gln2142Ter)
NM_015346.4(ZFYVE26):c.6480C>G (p.Tyr2160Ter) rs2038926434
NM_015346.4(ZFYVE26):c.6589G>T (p.Glu2197Ter)
NM_015346.4(ZFYVE26):c.6610del (p.Phe2203_Ile2204insTer) rs2140185555
NM_015346.4(ZFYVE26):c.6711C>G (p.Tyr2237Ter)
NM_015346.4(ZFYVE26):c.6757del (p.Ile2253fs) rs2140185372
NM_015346.4(ZFYVE26):c.6775C>T (p.Gln2259Ter) rs1262211844
NM_015346.4(ZFYVE26):c.6838_6839del (p.Lys2280fs)
NM_015346.4(ZFYVE26):c.6846_6847del (p.Thr2283fs)
NM_015346.4(ZFYVE26):c.684dup (p.Ala229fs)
NM_015346.4(ZFYVE26):c.69C>A (p.Cys23Ter)
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter) rs370837940
NM_015346.4(ZFYVE26):c.7128+1G>A
NM_015346.4(ZFYVE26):c.7144A>T (p.Lys2382Ter)
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter) rs869312914
NM_015346.4(ZFYVE26):c.7195del (p.Gln2399fs) rs2140181246
NM_015346.4(ZFYVE26):c.7251_7252del (p.Lys2418fs)
NM_015346.4(ZFYVE26):c.7270C>T (p.Gln2424Ter)
NM_015346.4(ZFYVE26):c.837T>G (p.Tyr279Ter) rs1594938339
NM_015346.4(ZFYVE26):c.86G>A (p.Trp29Ter) rs760484081
NM_015346.4(ZFYVE26):c.960G>A (p.Trp320Ter) rs1177577061
NM_015346.4(ZFYVE26):c.961A>T (p.Lys321Ter) rs375820273

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