ClinVar Miner

List of variants in gene PKD2 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NC_000004.11:g.(?_88928866)_(88979275_?)del
NC_000004.11:g.(?_88928866)_(88996866_?)del
NC_000004.11:g.88957372-?_89042944+?dup
NM_000297.4(PKD2):c.1047dup (p.Val350fs)
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
NM_000297.4(PKD2):c.1088del (p.Gly363fs) rs1553925467
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter) rs121918039
NM_000297.4(PKD2):c.1213C>T (p.Gln405Ter) rs121918041
NM_000297.4(PKD2):c.1319+1G>A rs1131692280
NM_000297.4(PKD2):c.1320-2del
NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter) rs1391596181
NM_000297.4(PKD2):c.1325del (p.Leu442fs)
NM_000297.4(PKD2):c.136_210delinsGCGGG (p.Leu46fs)
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1458C>G (p.Tyr486Ter) rs1135401753
NM_000297.4(PKD2):c.1532A>T (p.Asp511Val) rs121918043
NM_000297.4(PKD2):c.1577_1578TA[1] (p.Tyr527fs) rs1553926509
NM_000297.4(PKD2):c.1737_1746delinsAACAGG (p.Phe579Leufs) rs1560620277
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) rs1553926905
NM_000297.4(PKD2):c.1934_1935delinsT (p.Asn645fs) rs1560621750
NM_000297.4(PKD2):c.2019+1_2019+5del
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
NM_000297.4(PKD2):c.2051dup (p.Tyr684Ter)
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) rs121918040
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter)
NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) rs1553927823
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2503dup (p.Ser835fs) rs1560628245
NM_000297.4(PKD2):c.2524del (p.Leu842fs) rs1553928730
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) rs369678636
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.306_307insAGG (p.Val103_Glu104insArg) rs398122932
NM_000297.4(PKD2):c.443del (p.Gly148fs) rs1560592253
NM_000297.4(PKD2):c.473del (p.Glu158fs)
NM_000297.4(PKD2):c.514del (p.Asp172fs) rs1232369409
NM_000297.4(PKD2):c.595+1G>C
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543
NM_000297.4(PKD2):c.654_655del (p.Ser219fs)
NM_000297.4(PKD2):c.670del (p.Leu224fs) rs1553924173
NM_000297.4(PKD2):c.693dup (p.Ile232fs) rs1560598042
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter)
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526
NM_000297.4(PKD2):c.986del (p.Gly329fs) rs1553925459
NM_000297.4(PKD2):c.999delinsAGA (p.Pro334fs) rs1560608729
PKD2, 1-BP INS, 197_203C

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