ClinVar Miner

List of variants in gene ZFYVE26 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 0.00147
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile) rs201273304 0.00018
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter) rs118204049 0.00003
NM_015346.4(ZFYVE26):c.274-2A>G rs769329153 0.00002
NM_015346.4(ZFYVE26):c.3139+2T>G rs767164213 0.00002
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.1017+1G>T rs1224762841 0.00001
NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter) rs981804211 0.00001
NM_015346.4(ZFYVE26):c.2333-1G>C rs746606852 0.00001
NM_015346.4(ZFYVE26):c.3020-2A>G rs1470672632 0.00001
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter) rs988442865 0.00001
NM_015346.4(ZFYVE26):c.4114_4115insGAAGGGC (p.Ala1372fs) rs950356390 0.00001
NM_015346.4(ZFYVE26):c.5622-2A>G rs1272228031 0.00001
NM_015346.4(ZFYVE26):c.5715del (p.Asp1906fs) rs868672014 0.00001
NM_015346.4(ZFYVE26):c.6144C>A (p.Tyr2048Ter) rs756042888 0.00001
NM_015346.4(ZFYVE26):c.6278dup (p.Phe2094fs) rs755756797 0.00001
NM_015346.4(ZFYVE26):c.7128+2T>A rs1049504575 0.00001
GRCh37/hg19 14q24.1(chr14:68248050-68282680)x1
NC_000014.8:g.(?_68251766)_(68260966_?)del
NM_015346.3(ZFYVE26):c.5657_5666delTAGACAGCTC (p.Leu1886Profs)
NM_015346.4(ZFYVE26):c.1020_1021del (p.Thr341fs)
NM_015346.4(ZFYVE26):c.1051_1052insCATTCCA (p.Phe351fs)
NM_015346.4(ZFYVE26):c.1054_1055insTGTCTCTTATACACAT (p.Pro352fs)
NM_015346.4(ZFYVE26):c.1198G>T (p.Glu400Ter)
NM_015346.4(ZFYVE26):c.1277_1278delinsTTGAAATACAGT (p.Pro426fs)
NM_015346.4(ZFYVE26):c.1328C>A (p.Ser443Ter)
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs) rs1190463308
NM_015346.4(ZFYVE26):c.1356_1359del (p.Asn453fs)
NM_015346.4(ZFYVE26):c.1397T>A (p.Leu466Ter)
NM_015346.4(ZFYVE26):c.1436-1G>A rs545219731
NM_015346.4(ZFYVE26):c.143dup (p.Arg49fs)
NM_015346.4(ZFYVE26):c.1550_1551insCT (p.Gln517fs)
NM_015346.4(ZFYVE26):c.1557_1558delinsT (p.Gln520fs)
NM_015346.4(ZFYVE26):c.1574_1575insG (p.Asp526fs)
NM_015346.4(ZFYVE26):c.1639+1G>T
NM_015346.4(ZFYVE26):c.175del (p.Val59fs) rs2140260770
NM_015346.4(ZFYVE26):c.1816G>T (p.Glu606Ter)
NM_015346.4(ZFYVE26):c.1879_1880del (p.Glu627fs)
NM_015346.4(ZFYVE26):c.1926_1941del (p.Tyr643fs)
NM_015346.4(ZFYVE26):c.1927del (p.Tyr643fs)
NM_015346.4(ZFYVE26):c.1928_1930delinsT (p.Tyr643fs)
NM_015346.4(ZFYVE26):c.195-2A>G
NM_015346.4(ZFYVE26):c.1980del (p.His661fs)
NM_015346.4(ZFYVE26):c.1986_1988delinsACACTCAG (p.Phe665fs)
NM_015346.4(ZFYVE26):c.2006_2007del (p.Lys669fs)
NM_015346.4(ZFYVE26):c.2025_2026del (p.Ile675fs)
NM_015346.4(ZFYVE26):c.2030del (p.Gly677fs)
NM_015346.4(ZFYVE26):c.2149G>T (p.Gly717Ter)
NM_015346.4(ZFYVE26):c.215del (p.Pro72fs)
NM_015346.4(ZFYVE26):c.2196_2198del (p.Val733del) rs1555399289
NM_015346.4(ZFYVE26):c.2222del (p.Lys741fs) rs1555399288
NM_015346.4(ZFYVE26):c.2248+2T>C rs1555399278
NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter) rs1057518016
NM_015346.4(ZFYVE26):c.2332+1G>C
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter) rs941230062
NM_015346.4(ZFYVE26):c.237G>A (p.Trp79Ter)
NM_015346.4(ZFYVE26):c.2401+1G>T rs1555398778
NM_015346.4(ZFYVE26):c.2401+2T>C
NM_015346.4(ZFYVE26):c.2450del (p.Leu817fs) rs768176054
NM_015346.4(ZFYVE26):c.253A>T (p.Lys85Ter)
NM_015346.4(ZFYVE26):c.2553+1G>T
NM_015346.4(ZFYVE26):c.2554-1G>C rs760559263
NM_015346.4(ZFYVE26):c.2554-2A>G rs1186788102
NM_015346.4(ZFYVE26):c.2615_2617delinsTGAA (p.Arg872fs) rs2039789839
NM_015346.4(ZFYVE26):c.2618_2619del (p.Tyr873fs)
NM_015346.4(ZFYVE26):c.2619C>A (p.Tyr873Ter)
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.2644C>T (p.Gln882Ter)
NM_015346.4(ZFYVE26):c.2753_2755+5del
NM_015346.4(ZFYVE26):c.2756-1G>A rs2039758874
NM_015346.4(ZFYVE26):c.2830C>T (p.Gln944Ter)
NM_015346.4(ZFYVE26):c.2833G>T (p.Glu945Ter)
NM_015346.4(ZFYVE26):c.2843_2844insTATAAGAGACAGT (p.Trp948fs)
NM_015346.4(ZFYVE26):c.3020-1G>A rs1555397638
NM_015346.4(ZFYVE26):c.3022C>T (p.Arg1008Ter) rs766888372
NM_015346.4(ZFYVE26):c.3038_3039delinsGAGTCCTGGG (p.Val1013fs)
NM_015346.4(ZFYVE26):c.3061C>T (p.Arg1021Ter) rs2039651443
NM_015346.4(ZFYVE26):c.3119_3120del (p.Ser1040fs)
NM_015346.4(ZFYVE26):c.3139+1G>T rs137907310
NM_015346.4(ZFYVE26):c.3163_3164insCATCTTTTCTCTTCCTT (p.Gly1055fs)
NM_015346.4(ZFYVE26):c.3254delinsTTATACCTG (p.Gln1085fs)
NM_015346.4(ZFYVE26):c.3314_3315delinsTTTCCTACCTTGA (p.Thr1105fs)
NM_015346.4(ZFYVE26):c.3366_3368delinsTGAGTCT (p.Ala1124fs)
NM_015346.4(ZFYVE26):c.3394C>T (p.Gln1132Ter)
NM_015346.4(ZFYVE26):c.3408_3409del (p.Asn1137fs)
NM_015346.4(ZFYVE26):c.3416del (p.Gly1139fs)
NM_015346.4(ZFYVE26):c.3523+2T>C
NM_015346.4(ZFYVE26):c.3524-1G>C rs2140225441
NM_015346.4(ZFYVE26):c.3524-2A>G rs1555397331
NM_015346.4(ZFYVE26):c.3626+1G>C rs1555397310
NM_015346.4(ZFYVE26):c.363+1G>A rs935301743
NM_015346.4(ZFYVE26):c.363+2T>G rs760001730
NM_015346.4(ZFYVE26):c.3634del (p.Ala1212fs)
NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG (p.Ala1215fs) rs773333879
NM_015346.4(ZFYVE26):c.3684_3688del (p.Ser1229fs)
NM_015346.4(ZFYVE26):c.36_37del (p.Gln13fs)
NM_015346.4(ZFYVE26):c.372T>A (p.Tyr124Ter)
NM_015346.4(ZFYVE26):c.375_376del (p.Glu125fs)
NM_015346.4(ZFYVE26):c.3777_3779delinsT (p.His1260fs)
NM_015346.4(ZFYVE26):c.3893del (p.Pro1298fs)
NM_015346.4(ZFYVE26):c.3925_3926del (p.Lys1309fs)
NM_015346.4(ZFYVE26):c.3960C>A (p.Cys1320Ter)
NM_015346.4(ZFYVE26):c.4060del (p.Arg1354fs)
NM_015346.4(ZFYVE26):c.4096_4099del (p.Phe1366fs) rs774867891
NM_015346.4(ZFYVE26):c.4122G>A (p.Trp1374Ter)
NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter) rs774809466
NM_015346.4(ZFYVE26):c.4153C>T (p.Gln1385Ter) rs2039544464
NM_015346.4(ZFYVE26):c.4177_4178insA (p.Gly1393fs)
NM_015346.4(ZFYVE26):c.4262T>A (p.Leu1421Ter)
NM_015346.4(ZFYVE26):c.4282_4283delinsT (p.Arg1428fs)
NM_015346.4(ZFYVE26):c.4308C>G (p.Tyr1436Ter)
NM_015346.4(ZFYVE26):c.4339A>T (p.Lys1447Ter)
NM_015346.4(ZFYVE26):c.4341_4342delinsA (p.Asp1448fs)
NM_015346.4(ZFYVE26):c.4372+1_4372+3del rs1555396965
NM_015346.4(ZFYVE26):c.4409_4410insAAGA (p.Asp1470fs)
NM_015346.4(ZFYVE26):c.4428dup (p.Leu1477fs)
NM_015346.4(ZFYVE26):c.4522A>T (p.Lys1508Ter)
NM_015346.4(ZFYVE26):c.4540A>T (p.Lys1514Ter)
NM_015346.4(ZFYVE26):c.4569+2T>C rs779242644
NM_015346.4(ZFYVE26):c.4592del (p.Pro1531fs)
NM_015346.4(ZFYVE26):c.4600_4602delinsA (p.Cys1534fs)
NM_015346.4(ZFYVE26):c.4674+2T>C
NM_015346.4(ZFYVE26):c.4675-2A>G
NM_015346.4(ZFYVE26):c.4715_4716insCTATTAATGTC (p.Ile1572_Pro1573insTyrTer)
NM_015346.4(ZFYVE26):c.4783_4784del (p.Asp1595fs)
NM_015346.4(ZFYVE26):c.4797+2T>G rs2140215645
NM_015346.4(ZFYVE26):c.4798-1G>A rs1555396303
NM_015346.4(ZFYVE26):c.4798-1G>T rs1555396303
NM_015346.4(ZFYVE26):c.4846C>T (p.Gln1616Ter) rs2140214976
NM_015346.4(ZFYVE26):c.484_485del (p.Arg162fs)
NM_015346.4(ZFYVE26):c.4962T>A (p.Tyr1654Ter)
NM_015346.4(ZFYVE26):c.4982_4983del (p.Leu1661fs)
NM_015346.4(ZFYVE26):c.5179A>T (p.Lys1727Ter)
NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter) rs1214483973
NM_015346.4(ZFYVE26):c.5222-1G>A rs2039307447
NM_015346.4(ZFYVE26):c.5239C>T (p.Gln1747Ter)
NM_015346.4(ZFYVE26):c.5321-2A>G rs1555395560
NM_015346.4(ZFYVE26):c.5350del (p.Arg1784fs)
NM_015346.4(ZFYVE26):c.5484+1G>T rs1555395524
NM_015346.4(ZFYVE26):c.5484+1del rs1555395525
NM_015346.4(ZFYVE26):c.5485-1del rs878855013
NM_015346.4(ZFYVE26):c.5485-2A>G rs1555395288
NM_015346.4(ZFYVE26):c.5559_5563del (p.Glu1854fs)
NM_015346.4(ZFYVE26):c.5568C>A (p.Cys1856Ter)
NM_015346.4(ZFYVE26):c.5590_5592delinsA (p.Cys1864fs)
NM_015346.4(ZFYVE26):c.5654-1G>A
NM_015346.4(ZFYVE26):c.5690C>A (p.Ser1897Ter)
NM_015346.4(ZFYVE26):c.5735dup (p.Leu1912fs)
NM_015346.4(ZFYVE26):c.5762_5763insCGTC (p.Arg1923fs)
NM_015346.4(ZFYVE26):c.5790+1G>A rs1340106074
NM_015346.4(ZFYVE26):c.5791-2A>G
NM_015346.4(ZFYVE26):c.5989C>T (p.Gln1997Ter)
NM_015346.4(ZFYVE26):c.6004dup (p.Cys2002fs)
NM_015346.4(ZFYVE26):c.6006dup (p.Asp2003Ter) rs1555394824
NM_015346.4(ZFYVE26):c.6012-1G>A
NM_015346.4(ZFYVE26):c.6115del (p.Arg2039fs)
NM_015346.4(ZFYVE26):c.611T>C (p.Leu204Ser) rs2140252322
NM_015346.4(ZFYVE26):c.6159+1G>A rs896655703
NM_015346.4(ZFYVE26):c.6160-2A>C
NM_015346.4(ZFYVE26):c.6197G>A (p.Trp2066Ter) rs2140194241
NM_015346.4(ZFYVE26):c.620_621del (p.Pro207fs)
NM_015346.4(ZFYVE26):c.6219C>A (p.Cys2073Ter)
NM_015346.4(ZFYVE26):c.6242_6243del (p.Ala2081fs)
NM_015346.4(ZFYVE26):c.6331G>T (p.Glu2111Ter)
NM_015346.4(ZFYVE26):c.6369+1G>A rs1197046699
NM_015346.4(ZFYVE26):c.6384C>A (p.Tyr2128Ter) rs2140192948
NM_015346.4(ZFYVE26):c.6397_6398del (p.Arg2133fs)
NM_015346.4(ZFYVE26):c.6600delinsTG (p.Glu2201fs)
NM_015346.4(ZFYVE26):c.6623del (p.Phe2208fs)
NM_015346.4(ZFYVE26):c.6659T>A (p.Leu2220Ter)
NM_015346.4(ZFYVE26):c.6692T>A (p.Leu2231Ter)
NM_015346.4(ZFYVE26):c.6707del (p.Lys2236fs) rs2140185428
NM_015346.4(ZFYVE26):c.6713T>A (p.Leu2238Ter)
NM_015346.4(ZFYVE26):c.6736C>T (p.Gln2246Ter)
NM_015346.4(ZFYVE26):c.6786+1G>T
NM_015346.4(ZFYVE26):c.6790C>T (p.Gln2264Ter)
NM_015346.4(ZFYVE26):c.6884_6885del (p.Ala2295fs)
NM_015346.4(ZFYVE26):c.6898_6900delinsC (p.Lys2300fs)
NM_015346.4(ZFYVE26):c.6987-1G>A rs1555393393
NM_015346.4(ZFYVE26):c.7031T>A (p.Leu2344Ter)
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter) rs370837940
NM_015346.4(ZFYVE26):c.7046del (p.Ser2349fs)
NM_015346.4(ZFYVE26):c.7188+1G>A rs1555393338
NM_015346.4(ZFYVE26):c.7188+1G>T rs1555393338
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter) rs869312914
NM_015346.4(ZFYVE26):c.7257del (p.Lys2418_Tyr2419insTer) rs771393692
NM_015346.4(ZFYVE26):c.7270C>T (p.Gln2424Ter)
NM_015346.4(ZFYVE26):c.7371+1G>A rs1555393181
NM_015346.4(ZFYVE26):c.7416+2T>C rs1555393005
NM_015346.4(ZFYVE26):c.741C>A (p.Cys247Ter)
NM_015346.4(ZFYVE26):c.878C>A (p.Ser293Ter)
NM_015346.4(ZFYVE26):c.886+1G>T rs752618765
NM_015346.4(ZFYVE26):c.887-1G>C
NM_015346.4(ZFYVE26):c.887-2A>G rs1594937657
NM_015346.4(ZFYVE26):c.944del (p.Asn315fs)

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