ClinVar Miner

List of variants in gene PKD1 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 84
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HGVS dbSNP
NM_001009944.3(PKD1):c.10247del (p.Gly3416fs)
NM_001009944.3(PKD1):c.10377C>G (p.Tyr3459Ter)
NM_001009944.3(PKD1):c.1039_1045del (p.Gly347fs) rs1567217194
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.1097C>A (p.Ser366Ter)
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11921_11942dup (p.Gln3982_Leu3983insHisTer)
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.1202-9G>A
NM_001009944.3(PKD1):c.12044_12068del (p.Phe4015fs)
NM_001009944.3(PKD1):c.12166_12167del (p.Trp4056fs)
NM_001009944.3(PKD1):c.12230_12239del (p.Ala4077fs) rs1555444715
NM_001009944.3(PKD1):c.12344dup (p.Glu4116fs)
NM_001009944.3(PKD1):c.12444G>C (p.Glu4148Asp) rs1567145638
NM_001009944.3(PKD1):c.12592_12619del (p.Ser4198fs) rs1567144266
NM_001009944.3(PKD1):c.1259A>G (p.Tyr420Cys) rs755878230
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.12676_12693del (p.Phe4226_Gln4231del)
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro) rs1064797205
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
NM_001009944.3(PKD1):c.12699_12700AG[1] (p.Glu4234fs)
NM_001009944.3(PKD1):c.12718G>T (p.Glu4240Ter) rs1567143705
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1420C>T (p.Gln474Ter) rs1567215646
NM_001009944.3(PKD1):c.1439del (p.Pro480fs) rs1567215590
NM_001009944.3(PKD1):c.1523G>T (p.Cys508Phe) rs1057518001
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.1903dup (p.Gln635fs) rs1567213083
NM_001009944.3(PKD1):c.2012C>G (p.Ser671Ter)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter)
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs)
NM_001009944.3(PKD1):c.275del (p.Ala92fs) rs1567219735
NM_001009944.3(PKD1):c.2804_2829del (p.Leu935fs) rs1567209616
NM_001009944.3(PKD1):c.3145_3156del (p.Val1049_Ala1052del) rs1567206560
NM_001009944.3(PKD1):c.3397_3400GTGA[1] (p.Ser1134fs) rs1567204146
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_001009944.3(PKD1):c.3716_3718ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
NM_001009944.3(PKD1):c.4110_4113del (p.His1369_Tyr1370insTer) rs1567201338
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)
NM_001009944.3(PKD1):c.4161_4162AG[2] (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter)
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)
NM_001009944.3(PKD1):c.4894_4901dup (p.Leu1635_Gln1636insTer) rs1567198410
NM_001009944.3(PKD1):c.5245del (p.Val1749fs) rs1555455279
NM_001009944.3(PKD1):c.5279G>A (p.Trp1760Ter)
NM_001009944.3(PKD1):c.5411del (p.Gly1804fs)
NM_001009944.3(PKD1):c.5913delinsACC (p.Ser1972fs) rs1567194928
NM_001009944.3(PKD1):c.5937C>A (p.Cys1979Ter)
NM_001009944.3(PKD1):c.6394_6396TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs) rs1567192623
NM_001009944.3(PKD1):c.6587_6593dup (p.Gly2199fs) rs1567192229
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7109G>C (p.Cys2370Ser) rs1567187434
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe) rs1555453207
NM_001009944.3(PKD1):c.7274del (p.Gly2425fs) rs1567186399
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.739_740CT[3] (p.Cys248fs) rs1567218104
NM_001009944.3(PKD1):c.7587G>C (p.Lys2529Asn)
NM_001009944.3(PKD1):c.7856T>G (p.Leu2619Arg)
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)
NM_001009944.3(PKD1):c.8016+2T>C
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)
NM_001009944.3(PKD1):c.8423T>C (p.Ile2808Thr) rs1567177764
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro) rs1555451143
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs) rs1555451093
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser)
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter)
NM_001009944.3(PKD1):c.8978T>C (p.Leu2993Pro) rs1555450487
NM_001009944.3(PKD1):c.9231dup (p.Met3078fs) rs1567173968
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter)
NM_001009944.3(PKD1):c.9398-1G>A rs1555449642
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9431G>C (p.Gly3144Ala)
NM_001009944.3(PKD1):c.9518del (p.Pro3173fs) rs1567171182
NM_001009944.3(PKD1):c.9558C>G (p.His3186Gln)
NM_001009944.3(PKD1):c.9563A>T (p.Asn3188Ile) rs1567171059
NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs)
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498

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