Sugi Variant

Sugi Variant/PKHD1

PKHD1 — 6369 ClinVar variants

All ClinVar germline PKHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1119 flagged for review →

311 Pathogenic · 281 Pathogenic/Likely pathogenic · 844 Likely pathogenic · 428 Conflicting · 197 Benign · 61 Benign/Likely benign · 2205 Likely benign · 2042 Uncertain significance

Full PKHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1119

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 51

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 147

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 851

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 851

Predictors split 70

The independent predictors disagree with each other — read with care.

All PKHD1 variants

Pathogenic 311

Showing the top 300 by review status; the full set is in the sitemap.

  • c.2280-1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.2407+1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.5601-1G>A Multiple submitters polycystic kidney disease 4
  • c.7350+653A>G Multiple submitters polycystic kidney disease 4
  • c.8642+1G>A Multiple submitters polycystic kidney disease 4
  • c.8642+1G>T Multiple submitters polycystic kidney disease 4
  • c.976+2T>C Multiple submitters polycystic kidney disease 4
  • p.Ala1254fs Multiple submitters polycystic kidney disease 4
  • p.Ala3376fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ala3804fs Multiple submitters polycystic kidney disease 4
  • p.Ala3fs Multiple submitters polycystic kidney disease 4
  • p.Arg1040Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg1068Ter Multiple submitters PKHD1-related disorder
  • p.Arg124Ter Multiple submitters polycystic kidney disease 4
  • p.Arg1369fs Multiple submitters polycystic kidney disease 4
  • p.Arg1775Ter Multiple submitters polycystic kidney disease 4
  • p.Arg1804fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg2671Ter Multiple submitters polycystic kidney disease 4
  • p.Arg2942Ter Multiple submitters polycystic kidney disease 4
  • p.Arg2955Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg3107Ter Multiple submitters polycystic kidney disease 4
  • p.Arg3240Ter Multiple submitters polycystic kidney disease 4
  • p.Arg328Ter Multiple submitters polycystic kidney disease 4
  • p.Arg3772Ter Multiple submitters polycystic kidney disease 4
  • p.Arg496Ter Multiple submitters polycystic kidney disease 4
  • p.Arg564Ter Multiple submitters PKHD1-related disorder
  • p.Arg781Ter Multiple submitters PKHD1-related disorder
  • p.Arg909Ter Multiple submitters polycystic kidney disease 4
  • p.Asn2649fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Asn3062fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Asn3586fs Multiple submitters polycystic kidney disease 4
  • p.Asp3230fs Multiple submitters polycystic kidney disease 4
  • p.Cys2803Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln1473Ter Multiple submitters polycystic kidney disease 4
  • p.Gln1829Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln183Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln2167Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln2393Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln2708Ter Multiple submitters polycystic kidney disease 4
  • p.Gln3190Ter Multiple submitters polycystic kidney disease 4
  • p.Gln3216Ter Multiple submitters polycystic kidney disease 4
  • p.Gln3407Ter Multiple submitters PKHD1-related disorder
  • p.Gln3589Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln905Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln924Ter Multiple submitters polycystic kidney disease 4
  • p.Glu2001Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Glu3301Ter Multiple submitters polycystic kidney disease 4
  • p.Gly2026fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gly2705fs Multiple submitters polycystic kidney disease 4
  • p.Gly510fs Multiple submitters polycystic kidney disease 4
  • p.Ile2127_Leu2128insTer Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ile2944fs Multiple submitters familial cystic renal disease
  • p.Ile2957Thr Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ile3658fs Multiple submitters urogenital tract malformation
  • p.Leu1966fs Multiple submitters polycystic kidney disease 4
  • p.Leu2505Ter Multiple submitters polycystic kidney disease 4
  • p.Leu3485fs Multiple submitters polycystic kidney disease 4
  • p.Leu543fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Met238fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Phe2374fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Phe2970fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Pro1628Ala Multiple submitters polycystic kidney disease 4 ⚠
  • p.Pro3652fs Multiple submitters polycystic kidney disease 4
  • p.Ser1105fs Multiple submitters polycystic kidney disease 4
  • p.Ser1496fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser3570Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser3823Ter Multiple submitters polycystic kidney disease 4
  • p.Thr128fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Trp158Ter Multiple submitters polycystic kidney disease 4
  • p.Trp2070Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Trp2383Ter Multiple submitters polycystic kidney disease 4
  • p.Trp2736Ter Multiple submitters polycystic kidney disease 4
  • p.Trp3255Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Trp4Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Tyr1578fs Multiple submitters polycystic kidney disease 4
  • p.Tyr1816Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Tyr2623fs Multiple submitters polycystic kidney disease 4
  • p.Tyr486Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val1776fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val3546fs Multiple submitters polycystic kidney disease 4
  • c.11697_11785+527delinsTTAGG Single submitter autosomal recessive polycystic kidney disease
  • c.1693+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.1693+2T>G Single submitter autosomal recessive polycystic kidney disease
  • c.1694-74_1837-287del Single submitter Anhydramnios
  • c.2140+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.2407+2T>C Single submitter autosomal recessive polycystic kidney disease
  • c.3228+1G>T Single submitter polycystic kidney disease 4
  • c.390+1del Single submitter autosomal recessive polycystic kidney disease
  • c.5751+1G>C Single submitter polycystic kidney disease 4
  • c.5751+1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.(?_5909 Single submitter polycystic kidney disease 4
  • c.7192_7215+15del Single submitter polycystic kidney disease 4
  • c.7351-2A>T Single submitter autosomal recessive polycystic kidney disease
  • c.7691_7733+7del Single submitter autosomal recessive polycystic kidney disease
  • c.7912-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.7912-1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.7912-2A>G Single submitter polycystic kidney disease 4
  • c.8108-1G>C Single submitter polycystic kidney disease
  • c.8108-?_8173+?del Single submitter autosomal recessive polycystic kidney disease
  • c.8303-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.8642+1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.8797+2T>C Single submitter polycystic kidney disease 4
  • p.Ala1985fs Single submitter autosomal recessive polycystic kidney disease
  • p.Arg1280fs Single submitter autosomal recessive polycystic kidney disease
  • p.Arg1390_Ile1391insTer Single submitter polycystic kidney disease 4
  • p.Arg274fs Single submitter autosomal recessive polycystic kidney disease
  • p.Arg3101fs Single submitter autosomal recessive polycystic kidney disease
  • p.Arg3201Ter Single submitter polycystic kidney disease 4
  • p.Arg3618fs Single submitter polycystic kidney disease 4
  • p.Arg780fs Single submitter autosomal recessive polycystic kidney disease
  • p.Arg864fs Single submitter autosomal recessive polycystic kidney disease
  • p.Asn1779Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Asn1915fs Single submitter autosomal recessive polycystic kidney disease
  • p.Asn2768fs Single submitter polycystic kidney disease 4
  • p.Asn2818fs Single submitter autosomal recessive polycystic kidney disease
  • p.Asn3152fs Single submitter polycystic kidney disease 4
  • p.Asn3175fs Single submitter
  • p.Asn3621fs Single submitter autosomal recessive polycystic kidney disease
  • p.Asn386fs Single submitter autosomal recessive polycystic kidney disease
  • p.Asn911fs Single submitter autosomal recessive polycystic kidney disease
  • p.Asp1807fs Single submitter autosomal recessive polycystic kidney disease
  • p.Asp1820_Leu1821insTer Single submitter autosomal recessive polycystic kidney disease
  • p.Asp2255fs Single submitter autosomal recessive polycystic kidney disease
  • p.Asp3808fs Single submitter Enlarged kidney
  • p.Asp608fs Single submitter autosomal recessive polycystic kidney disease
  • p.Asp867fs Single submitter autosomal recessive polycystic kidney disease
  • p.Asp943fs Single submitter
  • p.Cys1205Ter Single submitter polycystic kidney disease 4
  • p.Cys1443fs Single submitter autosomal recessive polycystic kidney disease
  • p.Cys1472Tyr Single submitter autosomal recessive polycystic kidney disease
  • p.Cys1770fs Single submitter autosomal recessive polycystic kidney disease
  • p.Cys1774Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Cys1846Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Cys3024fs Single submitter autosomal recessive polycystic kidney disease
  • p.Cys3111fs Single submitter autosomal recessive polycystic kidney disease
  • p.Cys3346fs Single submitter autosomal recessive polycystic kidney disease
  • p.Cys3622Ter Single submitter polycystic kidney disease 4
  • p.Cys932Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gln1155fs Single submitter polycystic kidney disease 4
  • p.Gln1507Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gln1923fs Single submitter autosomal recessive polycystic kidney disease
  • p.Gln2010fs Single submitter autosomal recessive polycystic kidney disease
  • p.Gln2157Ter Single submitter polycystic kidney disease 4
  • p.Gln2190Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gln2304Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gln2380Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gln2626_Ser2627insTer Single submitter autosomal recessive polycystic kidney disease
  • p.Gln2824Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gln289Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gln3070fs Single submitter autosomal recessive polycystic kidney disease
  • p.Gln3410Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gln3521Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gln3687fs Single submitter autosomal recessive polycystic kidney disease
  • p.Gln3941Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gln687Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gln716Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gln984Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Glu1197fs Single submitter autosomal recessive polycystic kidney disease
  • p.Glu1482fs Single submitter autosomal recessive polycystic kidney disease
  • p.Glu1483Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Glu1889fs Single submitter autosomal recessive polycystic kidney disease
  • p.Glu2158Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Glu3582Ala Single submitter polycystic kidney disease 4 ⚠
  • p.Glu3928Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Glu541Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Glu654fs Single submitter
  • p.Glu696fs Single submitter autosomal recessive polycystic kidney disease
  • p.Glu768fs Single submitter polycystic kidney disease
  • p.Gly113fs Single submitter autosomal recessive polycystic kidney disease
  • p.Gly113Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gly1308fs Single submitter autosomal recessive polycystic kidney disease
  • p.Gly1320fs Single submitter PKHD1-related disorder
  • p.Gly1320Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gly150Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gly157Asp Single submitter autosomal recessive polycystic kidney disease
  • p.Gly162Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gly1759Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gly1999fs Single submitter autosomal recessive polycystic kidney disease
  • p.Gly1999Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gly2310fs Single submitter autosomal recessive polycystic kidney disease
  • p.Gly2426fs Single submitter polycystic kidney disease 4
  • p.Gly2566Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gly281fs Single submitter autosomal recessive polycystic kidney disease
  • p.Gly2918fs Single submitter autosomal recessive polycystic kidney disease
  • p.Gly3050fs Single submitter autosomal recessive polycystic kidney disease
  • p.Gly3129fs Single submitter autosomal recessive polycystic kidney disease
  • p.Gly3242fs Single submitter autosomal recessive polycystic kidney disease
  • p.Gly378fs Single submitter autosomal recessive polycystic kidney disease
  • p.His1144fs Single submitter autosomal recessive polycystic kidney disease
  • p.His1754fs Single submitter autosomal recessive polycystic kidney disease
  • p.His459fs Single submitter polycystic kidney disease 4
  • p.Ile1480fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ile2851fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ile3028fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ile3319fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ile3465fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ile3658_Ser3659insTer Single submitter polycystic kidney disease 4
  • p.Ile3662fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ile3666fs Single submitter
  • p.Ile3738fs Single submitter polycystic kidney disease 4
  • p.Ile707Thr Single submitter autosomal recessive polycystic kidney disease
  • p.Leu1167fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu1330fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu1412fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu1459fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu1499fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu16Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Leu1953fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu2220fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu2391fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu2551fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu2630fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu2651fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu2658Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Leu2764fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu2911fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu3117fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu3481fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu3510Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Leu3543Ser Single submitter autosomal recessive polycystic kidney disease
  • p.Leu400fs Single submitter autosomal recessive polycystic kidney disease
  • p.Leu889fs Single submitter autosomal recessive polycystic kidney disease
  • p.Lys2003fs Single submitter autosomal recessive polycystic kidney disease
  • p.Lys2107Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Lys2418fs Single submitter autosomal recessive polycystic kidney disease
  • p.Lys2928Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Lys3856Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Lys618fs Single submitter autosomal recessive polycystic kidney disease
  • p.Met1886fs Single submitter autosomal recessive polycystic kidney disease
  • p.Met1Thr Single submitter autosomal recessive polycystic kidney disease
  • p.Met2226fs Single submitter Inborn genetic diseases
  • p.Met3316fs Single submitter autosomal recessive polycystic kidney disease
  • p.Met896fs Single submitter autosomal recessive polycystic kidney disease
  • p.Phe1100fs Single submitter autosomal recessive polycystic kidney disease
  • p.Phe1343fs Single submitter autosomal recessive polycystic kidney disease
  • p.Phe169fs Single submitter autosomal recessive polycystic kidney disease
  • p.Phe3382fs Single submitter PKHD1-related disorder
  • p.Phe380fs Single submitter autosomal recessive polycystic kidney disease
  • p.Phe3813fs Single submitter polycystic kidney disease 4
  • p.Phe402fs Single submitter autosomal recessive polycystic kidney disease
  • p.Pro1396fs Single submitter autosomal recessive polycystic kidney disease
  • p.Pro1451fs Single submitter autosomal recessive polycystic kidney disease
  • p.Pro149fs Single submitter Enlarged kidney
  • p.Pro2662fs Single submitter autosomal recessive polycystic kidney disease
  • p.Pro3896fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ser1283Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Ser1761fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ser1862Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Ser2038fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ser2279fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ser2489fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ser2510fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ser2973fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ser3013Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Ser3234fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ser3659Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Ser3787Ter Single submitter Inborn genetic diseases
  • p.Ser3812fs Single submitter autosomal recessive polycystic kidney disease
  • p.Thr1408_Val1409insTer Single submitter autosomal recessive polycystic kidney disease
  • p.Thr2473fs Single submitter autosomal recessive polycystic kidney disease
  • p.Thr2589fs Single submitter autosomal recessive polycystic kidney disease
  • p.Thr2656fs Single submitter
  • p.Thr3477fs Single submitter
  • p.Thr3806fs Single submitter autosomal recessive polycystic kidney disease
  • p.Thr436fs Single submitter autosomal recessive polycystic kidney disease
  • p.Thr713fs Single submitter autosomal recessive polycystic kidney disease
  • p.Trp1272Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Trp158fs Single submitter polycystic kidney disease 4
  • p.Trp1834Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Trp244Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Trp2890fs Single submitter autosomal recessive polycystic kidney disease
  • p.Trp3073Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Trp3871Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Trp656Cys Single submitter autosomal recessive polycystic kidney disease
  • p.Trp656Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Trp848Ter Single submitter
  • p.Trp852Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Tyr110Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Tyr1836Ter Single submitter polycystic kidney disease 4
  • p.Tyr2112Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Tyr2260fs Single submitter autosomal recessive polycystic kidney disease
  • p.Tyr2341Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Tyr255Ter Single submitter
  • p.Tyr2650Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Tyr2854Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Tyr3741Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Tyr452Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Tyr949fs Single submitter autosomal recessive polycystic kidney disease
  • p.Val1303fs Single submitter autosomal recessive polycystic kidney disease
  • p.Val139fs Single submitter autosomal recessive polycystic kidney disease
  • p.Val142fs Single submitter autosomal recessive polycystic kidney disease
  • p.Val1695fs Single submitter cystic kidney disease
  • p.Val2076fs Single submitter polycystic kidney disease 4
  • p.Val2132fs Single submitter autosomal recessive polycystic kidney disease
  • p.Val2269fs Single submitter autosomal recessive polycystic kidney disease
  • p.Val231fs Single submitter autosomal recessive polycystic kidney disease
  • p.Val2971fs Single submitter autosomal recessive polycystic kidney disease
  • p.Val3430fs Single submitter Enlarged kidney
  • p.Val3471fs Single submitter autosomal recessive polycystic kidney disease
  • p.Val734fs Single submitter autosomal recessive polycystic kidney disease

Pathogenic/Likely pathogenic 281

  • c.11310+1G>C Multiple submitters polycystic kidney disease 4
  • c.11398+2T>C Multiple submitters polycystic kidney disease 4
  • c.11665+1G>A Multiple submitters polycystic kidney disease 4
  • c.1233+1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.131delG Multiple submitters autosomal recessive polycystic kidney disease
  • c.1513-1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.1602+1G>A Multiple submitters polycystic kidney disease 4
  • c.1602+2T>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.1693+1G>T Multiple submitters polycystic kidney disease 4
  • c.1693+2T>C Multiple submitters polycystic kidney disease 4
  • c.1694-1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.1836+1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.1836+1G>T Multiple submitters polycystic kidney disease 4
  • c.1964+1G>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.282-1G>T Multiple submitters polycystic kidney disease 4
  • c.282-2A>T Multiple submitters polycystic kidney disease 4
  • c.3228+2T>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.3229-2A>C Multiple submitters polycystic kidney disease 4
  • c.3561-1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.390+1G>A Multiple submitters polycystic kidney disease 4
  • c.390+1G>T Multiple submitters PKHD1-related disorder
  • c.391-1G>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.528-2A>G Multiple submitters autosomal recessive polycystic kidney disease
  • c.5751+1G>A Multiple submitters polycystic kidney disease 4
  • c.5751+3A>G Multiple submitters autosomal recessive polycystic kidney disease
  • c.5752-2A>G Multiple submitters polycystic kidney disease 4
  • c.5909-2del Multiple submitters PKHD1-related disorder
  • c.5909-46_5943del Multiple submitters autosomal recessive polycystic kidney disease
  • c.602+1G>A Multiple submitters polycystic kidney disease 4
  • c.603-2A>G Multiple submitters polycystic kidney disease 4
  • c.6332+1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.6332+2T>A Multiple submitters polycystic kidney disease 4
  • c.6333-2A>G Multiple submitters autosomal recessive polycystic kidney disease
  • c.6808+1G>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.6809-2A>G Multiple submitters polycystic kidney disease 4
  • c.6865+1G>A Multiple submitters polycystic kidney disease 4
  • c.6866-2_6866-1delinsGA Multiple submitters polycystic kidney disease 4
  • c.707+1G>A Multiple submitters PKHD1-related disorder
  • c.778+1G>C Multiple submitters PKHD1-related disorder
  • c.8302+2T>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.8554+1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.8555-2A>C Multiple submitters PKHD1-related disorder
  • c.8555-2A>G Multiple submitters autosomal recessive polycystic kidney disease
  • c.8797+1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.880+1G>A Multiple submitters polycystic kidney disease 4
  • c.881-1G>A Multiple submitters polycystic kidney disease 4
  • c.977-1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.977-2A>G Multiple submitters polycystic kidney disease 4
  • c.9830-2A>G Multiple submitters polycystic kidney disease 4
  • p.Ala1826fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ala2031fs Multiple submitters polycystic kidney disease 4
  • p.Ala2122fs Multiple submitters polycystic kidney disease 4
  • p.Ala2521fs Multiple submitters polycystic kidney disease 4
  • p.Ala3207Thr Multiple submitters polycystic kidney disease 4
  • p.Ala71fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg1076fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg2033Gly Multiple submitters PKHD1-related disorder
  • p.Arg2335fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg2604fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg2840Cys Multiple submitters PKHD1-related disorder ⚠
  • p.Arg2979Ter Multiple submitters polycystic kidney disease 4
  • p.Arg300Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg319fs Multiple submitters polycystic kidney disease 4
  • p.Arg3240Gln Multiple submitters PKHD1-related disorder ⚠
  • p.Arg328Gln Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg3313fs Multiple submitters polycystic kidney disease 4
  • p.Arg3333Thr Multiple submitters PKHD1-related disorder ⚠
  • p.Arg3482Cys Multiple submitters polycystic kidney disease 4 ⚠
  • p.Arg3620fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg3632Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg3692Ter Multiple submitters polycystic kidney disease 4
  • p.Arg375Trp Multiple submitters autosomal recessive polycystic kidney disease ⚠
  • p.Arg3842Ter Multiple submitters polycystic kidney disease 4
  • p.Arg3961Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg432Ter Multiple submitters polycystic kidney disease 4
  • p.Arg494Ter Multiple submitters polycystic kidney disease 4
  • p.Arg592Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg760His Multiple submitters polycystic kidney disease 4 ⚠
  • p.Asn2300= Multiple submitters polycystic kidney disease 4
  • p.Asn3445fs Multiple submitters polycystic kidney disease 4
  • p.Asn727fs Multiple submitters polycystic kidney disease 4
  • p.Asn869fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Asn901Thr Multiple submitters Caroli disease ⚠
  • p.Asp1091fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Asp175fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Asp1942Gly Multiple submitters polycystic kidney disease 4 ⚠
  • p.Asp1944Asn Multiple submitters polycystic kidney disease 4 ⚠
  • p.Asp285Ter Multiple submitters polycystic kidney disease 4
  • p.Asp3154Gly Multiple submitters autosomal recessive polycystic kidney disease
  • p.Asp3923fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Asp703Asn Multiple submitters polycystic kidney disease 4
  • p.Cys1336fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Cys1431Ser Multiple submitters polycystic kidney disease 4
  • p.Cys2169fs Multiple submitters polycystic kidney disease 4
  • p.Cys2337fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Cys2422Arg Multiple submitters polycystic kidney disease 4
  • p.Cys2491Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Cys2803Arg Multiple submitters polycystic kidney disease 4
  • p.Cys2965Arg Multiple submitters autosomal recessive polycystic kidney disease
  • p.Cys3450Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Cys3801Ter Multiple submitters polycystic kidney disease 4
  • p.Gln114Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln1155Ter Multiple submitters polycystic kidney disease 4
  • p.Gln1193Ter Multiple submitters polycystic kidney disease 4
  • p.Gln1444Ter Multiple submitters PKHD1-related disorder
  • p.Gln1665Ter Multiple submitters polycystic kidney disease 4
  • p.Gln1899Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln1923Ter Multiple submitters polycystic kidney disease 4
  • p.Gln2198Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln2354Ter Multiple submitters polycystic kidney disease 4
  • p.Gln250Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln2710Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln2994Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln3197Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln3276fs Multiple submitters polycystic kidney disease 4
  • p.Gln3331Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln3392Ter Multiple submitters biliary tract disorder
  • p.Gln353Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln3592Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln3636Ter Multiple submitters polycystic kidney disease 4
  • p.Gln3697Ter Multiple submitters polycystic kidney disease 4
  • p.Gln3763Ter Multiple submitters polycystic kidney disease 4
  • p.Gln472Ter Multiple submitters polycystic kidney disease 4
  • p.Gln498fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln504Ter Multiple submitters polycystic kidney disease 4
  • p.Gln779fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln782Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln818Ter Multiple submitters polycystic kidney disease 4
  • p.Gln855Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln978fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Glu1161fs Multiple submitters polycystic kidney disease 4
  • p.Glu1515Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Glu1841Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Glu2309Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Glu2399fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Glu2731fs Multiple submitters polycystic kidney disease 4
  • p.Glu2747Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Glu29Ter Multiple submitters polycystic kidney disease 4
  • p.Glu345fs Multiple submitters polycystic kidney disease 4
  • p.Glu3550fs Multiple submitters polycystic kidney disease 4
  • p.Glu753Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gly1122Ser Multiple submitters autosomal recessive polycystic kidney disease ⚠
  • p.Gly1123Ser Multiple submitters polycystic kidney disease 4 ⚠
  • p.Gly1210Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gly1345fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gly1971Asp Multiple submitters polycystic kidney disease 4
  • p.Gly1979Arg Multiple submitters autosomal recessive polycystic kidney disease ⚠
  • p.Gly2035fs Multiple submitters polycystic kidney disease 4
  • p.Gly223Ser Multiple submitters autosomal recessive polycystic kidney disease ⚠
  • p.Gly2718fs Multiple submitters polycystic kidney disease 4
  • p.Gly3026fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gly3558fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gly35fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gly3676Ter Multiple submitters polycystic kidney disease 4
  • p.Gly4013fs Multiple submitters PKHD1-related disorder
  • p.Gly466Ala Multiple submitters autosomal recessive polycystic kidney disease ⚠
  • p.Gly466Glu Multiple submitters polycystic kidney disease 4 ⚠
  • p.Gly619fs Multiple submitters polycystic kidney disease 4
  • p.Gly952Arg Multiple submitters PKHD1-related disorder
  • p.Gly952Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.His1184fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.His2265Leu Multiple submitters autosomal recessive polycystic kidney disease
  • p.His2572fs Multiple submitters polycystic kidney disease 4
  • p.His2655Arg Multiple submitters autosomal recessive polycystic kidney disease
  • p.His3124Pro Multiple submitters autosomal recessive polycystic kidney disease
  • p.His3124Tyr Multiple submitters autosomal recessive polycystic kidney disease
  • p.His3944fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ile1117fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ile222Val Multiple submitters autosomal recessive polycystic kidney disease ⚠
  • p.Ile2303Phe Multiple submitters polycystic kidney disease 4 ⚠
  • p.Ile2331Lys Multiple submitters polycystic kidney disease 4
  • p.Ile246Thr Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ile2851Thr Multiple submitters polycystic kidney disease 4 ⚠
  • p.Ile2957fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ile307Thr Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ile3205fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ile3243fs Multiple submitters polycystic kidney disease 4
  • p.Ile3553Thr Multiple submitters PKHD1-related disorder ⚠
  • p.Leu1252fs Multiple submitters polycystic kidney disease 4
  • p.Leu1349fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu1407Arg Multiple submitters polycystic kidney disease 4
  • p.Leu1792fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu2128Ter Multiple submitters polycystic kidney disease 4
  • p.Leu2170fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu2263Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu2546fs Multiple submitters polycystic kidney disease 4
  • p.Leu2658fs Multiple submitters polycystic kidney disease 4
  • p.Leu2946fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu3344Ter Multiple submitters polycystic kidney disease 4
  • p.Leu3543fs Multiple submitters polycystic kidney disease 4
  • p.Leu3877fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu447fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu45_Pro52delinsTer Multiple submitters autosomal recessive polycystic kidney disease
  • p.Lys3619fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Lys548fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Met1488fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Met1Ile Multiple submitters autosomal recessive polycystic kidney disease
  • p.Met1Val Multiple submitters polycystic kidney disease 4
  • p.Met2574fs Multiple submitters polycystic kidney disease 4
  • p.Met451fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Met627Lys Multiple submitters PKHD1-related disorder
  • p.Phe3371fs Multiple submitters PKHD1-related disorder
  • p.Phe42fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Pro1258fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Pro2721fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Pro739Leu Multiple submitters autosomal recessive polycystic kidney disease ⚠
  • p.Pro755Leu Multiple submitters polycystic kidney disease 4 ⚠
  • p.Ser1156Leu Multiple submitters PKHD1-related disorder ⚠
  • p.Ser1177fs Multiple submitters polycystic kidney disease 4
  • p.Ser118fs Multiple submitters polycystic kidney disease 4
  • p.Ser1314fs Multiple submitters PKHD1-related disorder
  • p.Ser1426Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser1498_Leu1499insTer Multiple submitters polycystic kidney disease 4
  • p.Ser192fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser2532fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser2639Ter Multiple submitters urogenital tract malformation
  • p.Ser263fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser2732Ter Multiple submitters polycystic kidney disease 4
  • p.Ser2877fs Multiple submitters polycystic kidney disease 4
  • p.Ser3099Ter Multiple submitters polycystic kidney disease 4
  • p.Ser3113fs Multiple submitters polycystic kidney disease 4
  • p.Ser3187fs Multiple submitters polycystic kidney disease 4
  • p.Ser3228Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser3282fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser3570fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser3646Ter Multiple submitters polycystic kidney disease 4
  • p.Ser577fs Multiple submitters polycystic kidney disease 4
  • p.Ser731Ter Multiple submitters polycystic kidney disease 4
  • p.Ser771fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Thr1101fs Multiple submitters polycystic kidney disease 4
  • p.Thr1960fs Multiple submitters polycystic kidney disease 4
  • p.Thr2131fs Multiple submitters polycystic kidney disease 4
  • p.Thr2146fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Thr2fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Thr311fs Multiple submitters polycystic kidney disease 4
  • p.Thr3379fs Multiple submitters polycystic kidney disease 4
  • p.Thr36Met Multiple submitters polycystic kidney disease 4
  • p.Thr410fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Thr421fs Multiple submitters polycystic kidney disease 4
  • p.Thr531fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Thr767fs Multiple submitters PKHD1-related disorder
  • p.Thr979Ile Multiple submitters PKHD1-related disorder
  • p.Trp1158Ter Multiple submitters polycystic kidney disease 4
  • p.Trp187Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Trp1928Ter Multiple submitters polycystic kidney disease 4
  • p.Trp1934fs Multiple submitters polycystic kidney disease 4
  • p.Trp2280Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Trp2398Ter Multiple submitters polycystic kidney disease 4
  • p.Trp2465Ter Multiple submitters polycystic kidney disease 4
  • p.Trp2690Arg Multiple submitters Inborn genetic diseases
  • p.Trp2690Ter Multiple submitters polycystic kidney disease 4
  • p.Trp2736fs Multiple submitters polycystic kidney disease 4
  • p.Trp2868fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Trp3245Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Trp3260Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Trp3378Ter Multiple submitters polycystic kidney disease 4
  • p.Trp3825Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Trp3871Arg Multiple submitters autosomal recessive polycystic kidney disease
  • p.Trp424Ter Multiple submitters polycystic kidney disease 4
  • p.Trp428Ter Multiple submitters polycystic kidney disease 4
  • p.Trp664Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Trp937Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Tyr105fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Tyr1554fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Tyr1838Cys Multiple submitters polycystic kidney disease 4
  • p.Tyr2784Ter Multiple submitters polycystic kidney disease 4
  • p.Tyr3155Cys Multiple submitters polycystic kidney disease 4
  • p.Tyr3184Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Tyr3631_Arg3632delinsTer Multiple submitters autosomal recessive polycystic kidney disease
  • p.Tyr610Ter Multiple submitters PKHD1-related disorder
  • p.Tyr938fs Multiple submitters polycystic kidney disease 4
  • p.Val1232fs Multiple submitters polycystic kidney disease 4
  • p.Val1381fs Multiple submitters polycystic kidney disease 4
  • p.Val1432fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val1606fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val2099fs Multiple submitters polycystic kidney disease 4
  • p.Val2254Gly Multiple submitters polycystic kidney disease 4
  • p.Val2773Leu Multiple submitters polycystic kidney disease 4
  • p.Val3471Gly Multiple submitters PKHD1-related disorder
  • p.Val3818_Leu3819insTer Multiple submitters polycystic kidney disease 4
  • p.Val3926fs Multiple submitters polycystic kidney disease 4

Likely pathogenic 844

Showing the top 300 by review status; the full set is in the sitemap.

  • c.11174+2T>C Multiple submitters polycystic kidney disease 4
  • c.11507-1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.11666-2A>G Multiple submitters polycystic kidney disease 4
  • c.131-1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.1694-2A>G Multiple submitters autosomal recessive polycystic kidney disease
  • c.1964+2T>C Multiple submitters polycystic kidney disease 4
  • c.1965-2A>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.2592+1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.2592+1G>C Multiple submitters polycystic kidney disease 4
  • c.2592+1G>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.2592+2T>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.2715+1G>A Multiple submitters polycystic kidney disease 4
  • c.281+1G>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.281+2T>G Multiple submitters polycystic kidney disease 4
  • c.2821+1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.2821+2T>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.2822-1G>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.3098-1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.3098-2A>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.3229-1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.3229-2del Multiple submitters autosomal recessive polycystic kidney disease
  • c.3364+1G>T Multiple submitters polycystic kidney disease 4
  • c.5236+2T>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.527+1G>C Multiple submitters polycystic kidney disease 4
  • c.528-1G>T Multiple submitters polycystic kidney disease 4
  • c.5380+1G>C Multiple submitters polycystic kidney disease 4
  • c.6333-1G>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.6683-2A>G Multiple submitters polycystic kidney disease 4
  • c.6809-2A>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.6866-16_6866del Multiple submitters autosomal recessive polycystic kidney disease
  • c.6866-1G>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.6866-2A>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.7109+3A>C Multiple submitters PKHD1-related disorder
  • c.7215+1G>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.7350+1G>T Multiple submitters polycystic kidney disease 4
  • c.7486+1G>A Multiple submitters PKHD1-related disorder
  • c.779-2A>G Multiple submitters autosomal recessive polycystic kidney disease
  • c.7911+2T>C Multiple submitters PKHD1-related disorder
  • c.8174-1G>A Multiple submitters polycystic kidney disease 4
  • c.8174-2A>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.8440+1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.8441-1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.976+2T>A Multiple submitters polycystic kidney disease 4
  • c.9829+1dup Multiple submitters autosomal recessive polycystic kidney disease
  • c.9830-1G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.9998+1G>T Multiple submitters polycystic kidney disease 4
  • c.9999-1G>A Multiple submitters polycystic kidney disease 4
  • p.Arg1173fs Multiple submitters polycystic kidney disease 4
  • p.Arg2922fs Multiple submitters polycystic kidney disease 4
  • p.Asp2288fs Multiple submitters polycystic kidney disease 4
  • p.Asp2643fs Multiple submitters polycystic kidney disease 4
  • p.Asp3293Asn Multiple submitters polycystic kidney disease 4
  • p.Asp3409Val Multiple submitters polycystic kidney disease 4
  • p.Cys191Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Cys2803Tyr Multiple submitters polycystic kidney disease 4
  • p.Cys3394Arg Multiple submitters autosomal recessive polycystic kidney disease
  • p.Cys3472Gly Multiple submitters polycystic kidney disease 4
  • p.Gln2362Ter Multiple submitters polycystic kidney disease 4
  • p.Gln289fs Multiple submitters polycystic kidney disease 4
  • p.Gln3476Ter Multiple submitters polycystic kidney disease 4
  • p.Gln3687Ter Multiple submitters polycystic kidney disease 4
  • p.Gln3698Ter Multiple submitters polycystic kidney disease 4
  • p.Gln3761Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln3899Ter Multiple submitters polycystic kidney disease 4
  • p.Gln602Ter Multiple submitters polycystic kidney disease 4
  • p.Glu1471Ter Multiple submitters polycystic kidney disease 4
  • p.Glu1806Ter Multiple submitters polycystic kidney disease 4
  • p.Glu1871Ter Multiple submitters polycystic kidney disease 4
  • p.Glu3582Ter Multiple submitters polycystic kidney disease 4
  • p.Gly1053Arg Multiple submitters polycystic kidney disease 4
  • p.Gly1122delinsIleTer Multiple submitters polycystic kidney disease 4
  • p.Gly1180Glu Multiple submitters PKHD1-related disorder ⚠
  • p.Gly2497Ter Multiple submitters polycystic kidney disease 4
  • p.Gly3178Cys Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gly3178Val Multiple submitters polycystic kidney disease 4
  • p.Gly3239Ser Multiple submitters polycystic kidney disease 4 ⚠
  • p.Gly466Arg Multiple submitters polycystic kidney disease 4
  • p.Gly470Val Multiple submitters polycystic kidney disease 4
  • p.His1814fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.His934fs Multiple submitters polycystic kidney disease 4
  • p.Ile1988Thr Multiple submitters PKHD1-related disorder
  • p.Ile1998Thr Multiple submitters autosomal recessive polycystic kidney disease ⚠
  • p.Ile222Leu Multiple submitters autosomal recessive polycystic kidney disease ⚠
  • p.Ile3051Thr Multiple submitters polycystic kidney disease 4
  • p.Leu1356fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu2039fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu2145fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu400Ser Multiple submitters polycystic kidney disease 4
  • p.Leu542fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu86fs Multiple submitters polycystic kidney disease 4
  • p.Met2804Lys Multiple submitters autosomal recessive polycystic kidney disease
  • p.Phe3325fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Pro2004delinsHisProCysPheTer Multiple submitters polycystic kidney disease 4
  • p.Pro3762Thr Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser1921fs Multiple submitters polycystic kidney disease 4
  • p.Ser2017fs Multiple submitters polycystic kidney disease 4
  • p.Ser3303fs Multiple submitters polycystic kidney disease 4
  • p.Ser3682Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser3718fs Multiple submitters polycystic kidney disease 4
  • p.Thr1212fs Multiple submitters polycystic kidney disease 4
  • p.Thr1311fs Multiple submitters polycystic kidney disease 4
  • p.Thr1815fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Thr1822fs Multiple submitters autosomal recessive polycystic kidney disease
  • p.Thr3716fs Multiple submitters polycystic kidney disease 4
  • p.Trp2890Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Trp3077Ter Multiple submitters autosomal recessive polycystic kidney disease
  • p.Trp3118Ter Multiple submitters polycystic kidney disease 4
  • p.Trp477Ter Multiple submitters polycystic kidney disease 4
  • p.Tyr1194Ter Multiple submitters polycystic kidney disease 4
  • p.Tyr2586fs Multiple submitters polycystic kidney disease 4
  • p.Val1875Gly Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val2773Gly Multiple submitters polycystic kidney disease 4
  • p.Val2884del Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val3925fs Multiple submitters autosomal recessive polycystic kidney disease
  • c.10156+2T>C Single submitter autosomal recessive polycystic kidney disease
  • c.10157-1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.10157-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11174_11175-4798del Single submitter autosomal recessive polycystic kidney disease
  • c.11174+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.11175-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.11175-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.1118+1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.1119-2A>G Single submitter polycystic kidney disease 4
  • c.11311-1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.11311-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11313_11317del Single submitter polycystic kidney disease 4
  • c.11507-2A>T Single submitter autosomal recessive polycystic kidney disease
  • c.11665+1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.11666-593_11752del Single submitter autosomal recessive polycystic kidney disease
  • c.11786-1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.11786-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11786-2del Single submitter autosomal recessive polycystic kidney disease
  • c.11786-4_11786-2del Single submitter autosomal recessive polycystic kidney disease
  • c.1234-1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.1234-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.130+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.130+2T>A Single submitter autosomal recessive polycystic kidney disease
  • c.131-1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.131-1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.131-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.131-2A>T Single submitter polycystic kidney disease 4
  • c.1694-1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.1836+1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.1964+3A>C Single submitter polycystic kidney disease 4
  • c.1965-1G>T Single submitter polycystic kidney disease 4
  • c.1965-2A>C Single submitter polycystic kidney disease 4
  • c.2141-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.2141-2A>C Single submitter autosomal recessive polycystic kidney disease
  • c.2141-9G>A Single submitter polycystic kidney disease 4
  • c.2279+1G>T Single submitter polycystic kidney disease 4
  • c.2279+5G>A Single submitter PKHD1-related disorder
  • c.2407+1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.2408-2A>G Single submitter polycystic kidney disease 4
  • c.2592+2T>A Single submitter PKHD1-related disorder
  • c.2593-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.2593-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.2694_2715+12delinsACTAA Single submitter autosomal recessive polycystic kidney disease
  • c.2694_2715+12delinsACTTA Single submitter autosomal recessive polycystic kidney disease
  • c.2715+1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.2715+2del Single submitter autosomal recessive polycystic kidney disease
  • c.2716-1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.2716-3C>A Single submitter PKHD1-related disorder
  • c.281+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.2822-1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.3052_3098-2744del Single submitter polycystic kidney disease 4
  • c.3097+1G>A Single submitter polycystic kidney disease 4
  • c.3097+1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.3098-10_3228+12del Single submitter polycystic kidney disease 4
  • c.3228+1G>A Single submitter polycystic kidney disease 4
  • c.3364+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.3365-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.3560+1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.3560+1G>T Single submitter polycystic kidney disease 4
  • c.3561-10T>G Single submitter polycystic kidney disease 4
  • c.3628+1G>A Single submitter polycystic kidney disease 4
  • c.391-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.448+2T>C Single submitter autosomal recessive polycystic kidney disease
  • c.449-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.449-1G>T Single submitter polycystic kidney disease 4
  • c.52+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.5236+1del Single submitter autosomal recessive polycystic kidney disease
  • c.5237-92G>A Single submitter autosomal recessive polycystic kidney disease
  • c.527+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.528-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.53-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.53-3C>A Single submitter autosomal recessive polycystic kidney disease
  • c.5380+2T>G Single submitter autosomal recessive polycystic kidney disease
  • c.5381-7_5385del Single submitter autosomal recessive polycystic kidney disease
  • c.5381-8_5385delinsG Single submitter PKHD1-related disorder
  • c.5600+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.5751+2T>G Single submitter polycystic kidney disease 4
  • c.5752-1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.5908+1G>A Single submitter polycystic kidney disease 4
  • c.5909-1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.602+2T>A Single submitter autosomal recessive polycystic kidney disease
  • c.6121+1G>A Single submitter polycystic kidney disease 4
  • c.6121+1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.6121+2T>A Single submitter autosomal recessive polycystic kidney disease
  • c.6332+1dup Single submitter autosomal recessive polycystic kidney disease
  • c.6332+40A>G Single submitter autosomal recessive polycystic kidney disease
  • c.6490+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.6490+2T>C Single submitter autosomal recessive polycystic kidney disease
  • c.6491-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.6491-5T>A Single submitter
  • c.667+1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.668-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.6682+1G>C Single submitter polycystic kidney disease 4
  • c.6683-2A>C Single submitter autosomal recessive polycystic kidney disease
  • c.6808+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.6865+2T>C Single submitter polycystic kidney disease 4
  • c.6866-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.6866-1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.6868_6877del Single submitter autosomal recessive polycystic kidney disease
  • c.6996+2del Single submitter autosomal recessive polycystic kidney disease
  • c.707+2T>C Single submitter autosomal recessive polycystic kidney disease
  • c.708-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.7109+2T>A Single submitter polycystic kidney disease 4
  • c.7109+2T>G Single submitter autosomal recessive polycystic kidney disease
  • c.7110-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.7110-1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.7110-1G>T Single submitter polycystic kidney disease 4
  • c.7216-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.7350+2T>A Single submitter autosomal recessive polycystic kidney disease
  • c.7350+2T>C Single submitter autosomal recessive polycystic kidney disease
  • c.7351-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.7486+1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.7487-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.7487-1G>C Single submitter polycystic kidney disease 4
  • c.7733+1G>C Single submitter polycystic kidney disease 4
  • c.778+1del Single submitter autosomal recessive polycystic kidney disease
  • c.778+2T>A Single submitter autosomal recessive polycystic kidney disease
  • c.779-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.7911+1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.8102_8107+8del Single submitter autosomal recessive polycystic kidney disease
  • c.8107+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.8173+2T>G Single submitter autosomal recessive polycystic kidney disease
  • c.8174-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.8440+1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.8441-1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.8441-1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.8441-2A>C Single submitter polycystic kidney disease 4
  • c.8554+1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.8555-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.8643-2A>T Single submitter autosomal recessive polycystic kidney disease
  • c.8797+1G>T Single submitter polycystic kidney disease 4
  • c.880+2T>G Single submitter autosomal recessive polycystic kidney disease
  • c.881-1G>C Single submitter autosomal recessive polycystic kidney disease
  • c.881-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.8948_8950+2del Single submitter
  • c.8950+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.8950+1G>T Single submitter polycystic kidney disease 4
  • c.8951del Single submitter autosomal recessive polycystic kidney disease
  • c.976+1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.976+2T>G Single submitter autosomal recessive polycystic kidney disease
  • c.9829+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.9829+2_9829+5del Single submitter autosomal recessive polycystic kidney disease
  • c.9830-18_9842del Single submitter polycystic kidney disease 4
  • c.9830-2A>C Single submitter autosomal recessive polycystic kidney disease
  • c.9998+1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.9999-2A>G Single submitter autosomal recessive polycystic kidney disease
  • p.Ala1484fs Single submitter polycystic kidney disease 4
  • p.Ala1513_Val1518del Single submitter polycystic kidney disease 4
  • p.Ala1513fs Single submitter polycystic kidney disease 4
  • p.Ala1811fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ala2009Thr Single submitter polycystic kidney disease 4 ⚠
  • p.Ala2063fs Single submitter polycystic kidney disease 4
  • p.Ala2212fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ala2355fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ala2404fs Single submitter PKHD1-related disorder
  • p.Ala2434fs Single submitter polycystic kidney disease 4
  • p.Ala2832fs Single submitter polycystic kidney disease 4
  • p.Ala2876_Ser2877insTer Single submitter autosomal recessive polycystic kidney disease
  • p.Ala2947fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ala3057fs Single submitter polycystic kidney disease 4
  • p.Ala3097del Single submitter polycystic kidney disease 4
  • p.Ala313fs Single submitter polycystic kidney disease 4
  • p.Ala3380fs Single submitter polycystic kidney disease 4
  • p.Ala3616fs Single submitter polycystic kidney disease 4
  • p.Ala601fs Single submitter autosomal recessive polycystic kidney disease
  • p.Ala616_Tyr617insTer Single submitter autosomal recessive polycystic kidney disease
  • p.Ala616fs Single submitter polycystic kidney disease 4
  • p.Arg1000Ter Single submitter polycystic kidney disease 4
  • p.Arg1028Ter Single submitter polycystic kidney disease 4
  • p.Arg1040fs Single submitter autosomal recessive polycystic kidney disease
  • p.Arg1235fs Single submitter autosomal recessive polycystic kidney disease
  • p.Arg1505fs Single submitter polycystic kidney disease 4
  • p.Arg1926fs Single submitter autosomal recessive polycystic kidney disease
  • p.Arg1938fs Single submitter autosomal recessive polycystic kidney disease
  • p.Arg2137fs Single submitter polycystic kidney disease 4
  • p.Arg2298Ile Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Arg2370fs Single submitter polycystic kidney disease 4
  • p.Arg2536fs Single submitter autosomal recessive polycystic kidney disease
  • p.Arg2697fs Single submitter polycystic kidney disease 4
  • p.Arg2881Ter Single submitter polycystic kidney disease 4
  • p.Arg2955Gln Single submitter polycystic kidney disease 4 ⚠
  • p.Arg3201fs Single submitter polycystic kidney disease 4
  • p.Arg328Gly Single submitter autosomal recessive polycystic kidney disease
  • p.Arg3333Lys Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Arg351fs Single submitter polycystic kidney disease 4
  • p.Arg3773fs Single submitter autosomal recessive polycystic kidney disease

Conflicting classifications of pathogenicity 428

Showing the top 300 by review status; the full set is in the sitemap.

  • c.11175-10T>G Single submitter polycystic kidney disease 4
  • c.11175-12T>C Single submitter autosomal recessive polycystic kidney disease
  • c.11507-11C>T Single submitter polycystic kidney disease 4
  • c.11507-5C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11507-8C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11785+1_11785+35del Single submitter autosomal recessive polycystic kidney disease
  • c.11785+1G>T Single submitter autosomal recessive polycystic kidney disease
  • c.1234-10_1234-9delinsAC Single submitter autosomal recessive polycystic kidney disease
  • c.1234-9T>C Single submitter autosomal recessive polycystic kidney disease
  • c.130+9G>A Single submitter autosomal recessive polycystic kidney disease
  • c.1512+9C>G Single submitter autosomal recessive polycystic kidney disease
  • c.1693+10G>A Single submitter autosomal recessive polycystic kidney disease
  • c.1693+9C>T Single submitter autosomal recessive polycystic kidney disease
  • c.1964+17G>T Single submitter autosomal recessive polycystic kidney disease
  • c.2141-4C>G Single submitter autosomal recessive polycystic kidney disease
  • c.2279+13T>G Single submitter autosomal recessive polycystic kidney disease
  • c.2280-10C>T Single submitter autosomal recessive polycystic kidney disease
  • c.2280-2A>G Single submitter autosomal recessive polycystic kidney disease
  • c.2280-9G>A Single submitter autosomal recessive polycystic kidney disease
  • c.2592+5G>T Single submitter autosomal recessive polycystic kidney disease
  • c.281+13G>A Single submitter autosomal recessive polycystic kidney disease
  • c.281+3A>G Single submitter autosomal recessive polycystic kidney disease
  • c.2821+14C>G Single submitter autosomal recessive polycystic kidney disease
  • c.3365-3C>T Single submitter polycystic kidney disease 4
  • c.3628+9C>A Single submitter autosomal recessive polycystic kidney disease
  • c.3629-15G>A Single submitter autosomal recessive polycystic kidney disease
  • c.449-6A>T Single submitter autosomal recessive polycystic kidney disease
  • c.528-17dup Single submitter polycystic kidney disease 4
  • c.528-18A>T Single submitter autosomal recessive polycystic kidney disease
  • c.53-1G>A Single submitter autosomal recessive polycystic kidney disease
  • c.5381-12T>C Single submitter autosomal recessive polycystic kidney disease
  • c.5381-9T>G Single submitter autosomal recessive polycystic kidney disease
  • c.5601-8C>T Single submitter autosomal recessive polycystic kidney disease
  • c.5752-9G>A Single submitter autosomal recessive polycystic kidney disease
  • c.602+5G>A Single submitter polycystic kidney disease 4
  • c.603-16T>A Single submitter autosomal recessive polycystic kidney disease
  • c.6122-12G>A Single submitter autosomal recessive polycystic kidney disease
  • c.6332+3A>C Single submitter autosomal recessive polycystic kidney disease
  • c.6996+4A>T Single submitter polycystic kidney disease 4
  • c.708-4G>A Single submitter autosomal recessive polycystic kidney disease
  • c.708-5C>T Single submitter polycystic kidney disease 4
  • c.7215+13G>T Single submitter autosomal recessive polycystic kidney disease
  • c.7733+15C>A Single submitter autosomal recessive polycystic kidney disease
  • c.7734-6C>A Single submitter autosomal recessive polycystic kidney disease
  • c.778+10C>G Single submitter autosomal recessive polycystic kidney disease
  • c.7912-5T>G Single submitter polycystic kidney disease 4
  • c.8107+8T>G Single submitter autosomal recessive polycystic kidney disease
  • c.8173+12C>T Single submitter autosomal recessive polycystic kidney disease
  • c.8174-18dup Single submitter polycystic kidney disease 4
  • c.8302+5G>A Single submitter autosomal recessive polycystic kidney disease
  • c.8440+10G>C Single submitter autosomal recessive polycystic kidney disease
  • c.8642+19T>G Single submitter autosomal recessive polycystic kidney disease
  • c.8797+20G>T Single submitter autosomal recessive polycystic kidney disease
  • c.8798-15C>A Single submitter autosomal recessive polycystic kidney disease
  • c.8798-7G>A Single submitter autosomal recessive polycystic kidney disease
  • c.8951-13C>T Single submitter autosomal recessive polycystic kidney disease
  • c.977-7C>G Single submitter autosomal recessive polycystic kidney disease
  • p.277IT[1] Single submitter polycystic kidney disease 4
  • p.Ala1030Glu Single submitter autosomal recessive polycystic kidney disease
  • p.Ala1030Val Single submitter PKHD1-related disorder
  • p.Ala1062Thr Single submitter polycystic kidney disease 4 ⚠
  • p.Ala109Thr Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Ala1131= Single submitter autosomal recessive polycystic kidney disease
  • p.Ala1245Val Single submitter polycystic kidney disease 4 ⚠
  • p.Ala1254Gly Single submitter autosomal recessive polycystic kidney disease
  • p.Ala1279Thr Single submitter polycystic kidney disease 4 ⚠
  • p.Ala1297= Single submitter autosomal recessive polycystic kidney disease
  • p.Ala1484Thr Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Ala17= Single submitter autosomal recessive polycystic kidney disease
  • p.Ala1711= Single submitter autosomal recessive polycystic kidney disease
  • p.Ala1740Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1767= Single submitter autosomal recessive polycystic kidney disease
  • p.Ala1826= Single submitter autosomal recessive polycystic kidney disease
  • p.Ala1987Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala2159Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala2308= Single submitter autosomal recessive polycystic kidney disease
  • p.Ala2564Val Single submitter polycystic kidney disease 4 ⚠
  • p.Ala2579Val Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Ala3072Val Single submitter polycystic kidney disease 4 ⚠
  • p.Ala3123= Single submitter polycystic kidney disease 4
  • p.Ala3385Thr Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Ala3742Thr Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Ala3793Val Single submitter polycystic kidney disease 4 ⚠
  • p.Ala394Thr Single submitter autosomal recessive polycystic kidney disease
  • p.Ala415_Ile417del Single submitter autosomal recessive polycystic kidney disease
  • p.Ala616Thr Single submitter autosomal recessive polycystic kidney disease
  • p.Ala748Val Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Ala759Thr Single submitter polycystic kidney disease 4
  • p.Ala821= Single submitter autosomal recessive polycystic kidney disease
  • p.Arg1020= Single submitter autosomal recessive polycystic kidney disease
  • p.Arg1028= Single submitter autosomal recessive polycystic kidney disease
  • p.Arg1081Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1081His Single submitter polycystic kidney disease 4 ⚠
  • p.Arg1235Trp Single submitter polycystic kidney disease 4
  • p.Arg124Gln Single submitter polycystic kidney disease 4 ⚠
  • p.Arg1276= Single submitter autosomal recessive polycystic kidney disease
  • p.Arg1280Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1280His Single submitter Inborn genetic diseases ⚠
  • p.Arg1390Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1419= Single submitter autosomal recessive polycystic kidney disease
  • p.Arg1422= Single submitter autosomal recessive polycystic kidney disease
  • p.Arg1775Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1804His Single submitter polycystic kidney disease 4 ⚠
  • p.Arg1911Cys Single submitter polycystic kidney disease 4
  • p.Arg1926Gln Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Arg2237Lys Single submitter Inborn genetic diseases
  • p.Arg2413Cys Single submitter autosomal recessive polycystic kidney disease
  • p.Arg2573Cys Single submitter PKHD1-related disorder
  • p.Arg2604Cys Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Arg2671Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg2671Pro Single submitter autosomal recessive polycystic kidney disease
  • p.Arg2714Gln Single submitter polycystic kidney disease 4 ⚠
  • p.Arg2831Gly Single submitter polycystic kidney disease
  • p.Arg2840Gly Single submitter polycystic kidney disease 4 ⚠
  • p.Arg2891Cys Single submitter autosomal recessive polycystic kidney disease
  • p.Arg312Gln Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Arg3240Leu Single submitter polycystic kidney disease 4 ⚠
  • p.Arg3313Lys Single submitter polycystic kidney disease 4 ⚠
  • p.Arg3620His Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Arg3637His Single submitter Inborn genetic diseases ⚠
  • p.Arg3692Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg3913Cys Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Arg3914Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg3914Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Arg3957His Single submitter polycystic kidney disease 4 ⚠
  • p.Arg4036Gln Single submitter polycystic kidney disease 4 ⚠
  • p.Arg4036Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg494Gln Single submitter polycystic kidney disease 4 ⚠
  • p.Arg559Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg589Cys Single submitter polycystic kidney disease 4 ⚠
  • p.Arg606Trp Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Arg669His Single submitter polycystic kidney disease 4 ⚠
  • p.Arg723Cys Single submitter polycystic kidney disease 4 ⚠
  • p.Arg723Leu Single submitter polycystic kidney disease 4 ⚠
  • p.Arg880Cys Single submitter polycystic kidney disease 4
  • p.Arg880Pro Single submitter autosomal recessive polycystic kidney disease
  • p.Arg909Gln Single submitter polycystic kidney disease 4 ⚠
  • p.Arg92Gln Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Arg92Trp Single submitter autosomal recessive polycystic kidney disease
  • p.Arg994Gln Single submitter polycystic kidney disease 4 ⚠
  • p.Arg994Trp Single submitter polycystic kidney disease 4
  • p.Asn1016= Single submitter autosomal recessive polycystic kidney disease
  • p.Asn1179= Single submitter polycystic kidney disease 4
  • p.Asn1346= Single submitter autosomal recessive polycystic kidney disease
  • p.Asn1460= Single submitter autosomal recessive polycystic kidney disease
  • p.Asn1779Ile Single submitter polycystic kidney disease 4
  • p.Asn2160Ser Single submitter polycystic kidney disease 4 ⚠
  • p.Asn2261Ser Single submitter Inborn genetic diseases
  • p.Asn2553Ser Single submitter polycystic kidney disease 4 ⚠
  • p.Asn2629= Single submitter autosomal recessive polycystic kidney disease
  • p.Asn2990= Single submitter autosomal recessive polycystic kidney disease
  • p.Asn3062= Single submitter autosomal recessive polycystic kidney disease
  • p.Asn3094= Single submitter polycystic kidney disease 4
  • p.Asn3121= Single submitter autosomal recessive polycystic kidney disease
  • p.Asn3175Ser Single submitter polycystic kidney disease 4
  • p.Asn3191His Single submitter Inborn genetic diseases ⚠
  • p.Asn3235Lys Single submitter polycystic kidney disease 4
  • p.Asn387Ile Single submitter autosomal recessive polycystic kidney disease
  • p.Asn3940Tyr Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Asn3948= Single submitter autosomal recessive polycystic kidney disease
  • p.Asn475= Single submitter polycystic kidney disease 4
  • p.Asn53Ser Single submitter polycystic kidney disease 4 ⚠
  • p.Asn64= Single submitter autosomal recessive polycystic kidney disease
  • p.Asn727Ser Single submitter polycystic kidney disease 4 ⚠
  • p.Asn869= Single submitter autosomal recessive polycystic kidney disease
  • p.Asn901= Single submitter autosomal recessive polycystic kidney disease
  • p.Asp1337Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp1337Glu Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Asp1514His Single submitter polycystic kidney disease 4
  • p.Asp1720= Single submitter autosomal recessive polycystic kidney disease
  • p.Asp1957Asn Single submitter polycystic kidney disease 4
  • p.Asp220Asn Single submitter polycystic kidney disease 4 ⚠
  • p.Asp2428= Single submitter autosomal recessive polycystic kidney disease
  • p.Asp2490Gly Single submitter polycystic kidney disease 4 ⚠
  • p.Asp2962= Single submitter autosomal recessive polycystic kidney disease
  • p.Asp3052Tyr Single submitter autosomal recessive polycystic kidney disease
  • p.Asp3088Asn Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Asp3139Tyr Single submitter polycystic kidney disease 4 ⚠
  • p.Asp3358= Single submitter autosomal recessive polycystic kidney disease
  • p.Asp3439Tyr Single submitter polycystic kidney disease 4
  • p.Asp3668Tyr Single submitter autosomal recessive polycystic kidney disease
  • p.Asp43= Single submitter polycystic kidney disease 4
  • p.Cys1249Trp Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Cys1431Tyr Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Cys1704= Single submitter polycystic kidney disease 4
  • p.Cys1787Arg Single submitter polycystic kidney disease 4 ⚠
  • p.Cys1787Phe Single submitter PKHD1-related disorder ⚠
  • p.Cys1809Tyr Single submitter autosomal recessive polycystic kidney disease
  • p.Cys1840= Single submitter polycystic kidney disease 4
  • p.Cys2247Trp Single submitter autosomal recessive polycystic kidney disease
  • p.Cys2422Gly Single submitter polycystic kidney disease 4 ⚠
  • p.Cys3394Tyr Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Cys3982Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Cys583Tyr Single submitter polycystic kidney disease 4 ⚠
  • p.Cys660Arg Single submitter polycystic kidney disease 4 ⚠
  • p.Cys660Trp Single submitter polycystic kidney disease 4 ⚠
  • p.Gln1256fs Single submitter Cystic renal disease
  • p.Gln1845Arg Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Gln1917Arg Single submitter polycystic kidney disease 4 ⚠
  • p.Gln1923Leu Single submitter polycystic kidney disease 4
  • p.Gln214= Single submitter polycystic kidney disease 4
  • p.Gln2167Lys Single submitter polycystic kidney disease 4 ⚠
  • p.Gln225Glu Single submitter autosomal recessive polycystic kidney disease
  • p.Gln3807Pro Single submitter Inborn genetic diseases
  • p.Gln3994Ter Single submitter autosomal recessive polycystic kidney disease
  • p.Gln4010Pro Single submitter polycystic kidney disease
  • p.Gln4071= Single submitter autosomal recessive polycystic kidney disease
  • p.Gln815Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln927= Single submitter autosomal recessive polycystic kidney disease
  • p.Glu1448Gly Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Glu1483Lys Single submitter polycystic kidney disease 4
  • p.Glu1841Lys Single submitter autosomal recessive polycystic kidney disease
  • p.Glu1893= Single submitter autosomal recessive polycystic kidney disease
  • p.Glu218Lys Single submitter polycystic kidney disease 4
  • p.Glu3115= Single submitter autosomal recessive polycystic kidney disease
  • p.Glu3582Lys Single submitter polycystic kidney disease 4
  • p.Glu3656= Single submitter autosomal recessive polycystic kidney disease
  • p.Glu4049= Single submitter autosomal recessive polycystic kidney disease
  • p.Glu654Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly1003= Single submitter autosomal recessive polycystic kidney disease
  • p.Gly1041Asp Single submitter PKHD1-related disorder ⚠
  • p.Gly1122= Single submitter polycystic kidney disease 4
  • p.Gly112Arg Single submitter polycystic kidney disease 4
  • p.Gly1943= Single submitter polycystic kidney disease 4
  • p.Gly1970= Single submitter autosomal recessive polycystic kidney disease
  • p.Gly211= Single submitter polycystic kidney disease 4
  • p.Gly2210Glu Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Gly2285Glu Single submitter polycystic kidney disease 4 ⚠
  • p.Gly2388Asp Single submitter autosomal recessive polycystic kidney disease
  • p.Gly2402Asp Single submitter autosomal recessive polycystic kidney disease
  • p.Gly2496Ser Single submitter polycystic kidney disease 4
  • p.Gly2707Asp Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Gly2782Ala Single submitter kidney failure
  • p.Gly2809Arg Single submitter polycystic kidney disease 4 ⚠
  • p.Gly2835Arg Single submitter autosomal recessive polycystic kidney disease
  • p.Gly3103Asp Single submitter polycystic kidney disease 4 ⚠
  • p.Gly3238= Single submitter autosomal recessive polycystic kidney disease
  • p.Gly326Val Single submitter polycystic kidney disease 4 ⚠
  • p.Gly3511Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly35Arg Single submitter PKHD1-related disorder ⚠
  • p.Gly3809Ser Single submitter polycystic kidney disease 4
  • p.Gly448Arg Single submitter autosomal recessive polycystic kidney disease
  • p.Gly698Asp Single submitter polycystic kidney disease 4 ⚠
  • p.Gly942Ala Single submitter polycystic kidney disease 4 ⚠
  • p.His1144= Single submitter autosomal recessive polycystic kidney disease
  • p.His1318Leu Single submitter polycystic kidney disease 4 ⚠
  • p.His208= Single submitter autosomal recessive polycystic kidney disease
  • p.His2214Arg Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.His2265= Single submitter autosomal recessive polycystic kidney disease
  • p.His2655Pro Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.His3049Arg Single submitter autosomal recessive polycystic kidney disease
  • p.His3160Tyr Single submitter polycystic kidney disease 4
  • p.His3222Arg Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.His3630Tyr Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.His401Asn Single submitter Inborn genetic diseases ⚠
  • p.His4066= Single submitter autosomal recessive polycystic kidney disease
  • p.His612= Single submitter polycystic kidney disease 4
  • p.His686Pro Single submitter polycystic kidney disease 4
  • p.His993Arg Single submitter polycystic kidney disease 4
  • p.Ile1006Val Single submitter polycystic kidney disease 4 ⚠
  • p.Ile1050Val Single submitter Inborn genetic diseases ⚠
  • p.Ile1128Thr Single submitter polycystic kidney disease 4 ⚠
  • p.Ile1433Val Single submitter polycystic kidney disease 4 ⚠
  • p.Ile1866Met Single submitter polycystic kidney disease 4
  • p.Ile1968Ser Single submitter polycystic kidney disease 4
  • p.Ile1968Val Single submitter polycystic kidney disease 4 ⚠
  • p.Ile2188= Single submitter autosomal recessive polycystic kidney disease
  • p.Ile2364Asn Single submitter Moyamoya disease ⚠
  • p.Ile2427Thr Single submitter PKHD1-related disorder
  • p.Ile277= Single submitter autosomal recessive polycystic kidney disease
  • p.Ile2846Val Single submitter Inborn genetic diseases ⚠
  • p.Ile2957Met Single submitter autosomal recessive polycystic kidney disease
  • p.Ile3177Thr Single submitter biliary tract disorder
  • p.Ile3305Val Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Ile3309Val Single submitter polycystic kidney disease 4
  • p.Ile3404Val Single submitter Inborn genetic diseases ⚠
  • p.Ile3468Val Single submitter polycystic kidney disease 4
  • p.Ile3710= Single submitter autosomal recessive polycystic kidney disease
  • p.Ile3722Thr Single submitter polycystic kidney disease 4 ⚠
  • p.Ile757Leu Single submitter autosomal recessive polycystic kidney disease
  • p.Ile757Val Single submitter polycystic kidney disease 4
  • p.Leu1171Val Single submitter Inborn genetic diseases ⚠
  • p.Leu2039Pro Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Leu2652= Single submitter autosomal recessive polycystic kidney disease
  • p.Leu2665Pro Single submitter polycystic kidney disease 4
  • p.Leu2674= Single submitter autosomal recessive polycystic kidney disease
  • p.Leu2827Pro Single submitter polycystic kidney disease 4 ⚠
  • p.Leu3020Pro Single submitter autosomal recessive polycystic kidney disease ⚠
  • p.Leu3353Arg Single submitter PKHD1-related disorder ⚠
  • p.Leu3746Pro Single submitter autosomal recessive polycystic kidney disease
  • p.Leu3946= Single submitter autosomal recessive polycystic kidney disease
  • p.Leu4037Pro Single submitter polycystic kidney disease 4
  • p.Leu50= Single submitter autosomal recessive polycystic kidney disease
  • p.Leu693= Single submitter autosomal recessive polycystic kidney disease
  • p.Leu870= Single submitter autosomal recessive polycystic kidney disease
  • p.Leu8Pro Single submitter autosomal recessive polycystic kidney disease
  • p.Lys241= Single submitter autosomal recessive polycystic kidney disease
  • p.Lys2534= Single submitter autosomal recessive polycystic kidney disease
  • p.Lys2822= Single submitter autosomal recessive polycystic kidney disease
  • p.Lys3134= Single submitter polycystic kidney disease 4

Benign 197

Benign/Likely benign 61

  • c.11174+11A>G Multiple submitters autosomal recessive polycystic kidney disease
  • c.11507-7G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.1234-5C>T Multiple submitters polycystic kidney disease 4
  • c.1603-28T>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.2407+42T>G Multiple submitters
  • c.2715+7del Multiple submitters autosomal recessive polycystic kidney disease
  • c.3097+15G>T Multiple submitters polycystic kidney disease 4
  • c.391-43T>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.449-15TTC[2] Multiple submitters polycystic kidney disease 4
  • c.527+51G>T Multiple submitters polycystic kidney disease 4
  • c.528-9del Multiple submitters polycystic kidney disease 4
  • c.6333-13dup Multiple submitters polycystic kidney disease 4
  • c.6333-8_6333-7del Multiple submitters polycystic kidney disease 4
  • c.6490+62A>G Multiple submitters polycystic kidney disease 4
  • c.7110-7T>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.7215+11T>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.7734-27_7734-26dup Multiple submitters polycystic kidney disease 4
  • c.7734-27dup Multiple submitters autosomal recessive polycystic kidney disease
  • c.779-12del Multiple submitters
  • c.779-13_779-12del Multiple submitters autosomal recessive polycystic kidney disease
  • c.7911+19T>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.8108-16G>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.8108-64G>A Multiple submitters polycystic kidney disease 4
  • c.8173+101A>T Multiple submitters polycystic kidney disease 4
  • c.8174-18T>A Multiple submitters polycystic kidney disease 4
  • c.8798-19del Multiple submitters autosomal recessive polycystic kidney disease
  • c.8950+44A>G Multiple submitters autosomal recessive polycystic kidney disease
  • c.9829+10T>G Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ala1008= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg1909Trp Multiple submitters polycystic kidney disease 4
  • p.Arg3842Leu Multiple submitters autosomal recessive polycystic kidney disease
  • p.Arg3913His Multiple submitters polycystic kidney disease 4
  • p.Arg650= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Asn2071His Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln978= Multiple submitters polycystic kidney disease 4
  • p.Glu3529Gln Multiple submitters polycystic kidney disease 4
  • p.Gly1345= Multiple submitters polycystic kidney disease 4
  • p.Gly2494= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gly2648Ser Multiple submitters polycystic kidney disease 4
  • p.Gly363Glu Multiple submitters polycystic kidney disease 4
  • p.Ile3905Asn Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu2062= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu2625= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Lys626Arg Multiple submitters autosomal recessive polycystic kidney disease
  • p.Pro2659= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Pro296= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Pro3780= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Pro676Arg Multiple submitters polycystic kidney disease 4
  • p.Ser1786= Multiple submitters polycystic kidney disease 4
  • p.Ser3164= Multiple submitters polycystic kidney disease 4
  • p.Thr1292= Multiple submitters polycystic kidney disease 4
  • p.Thr2641Ala Multiple submitters autosomal recessive polycystic kidney disease
  • p.Thr2869Lys Multiple submitters Caroli disease
  • p.Thr579Met Multiple submitters polycystic kidney disease 4
  • p.Trp1229Ser Multiple submitters polycystic kidney disease 4
  • p.Val1328= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val1640= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val3193Ile Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val3579= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val3837Ile Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val3960Ile Multiple submitters polycystic kidney disease 4

Likely benign 2205

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1119-18C>G Multiple submitters autosomal recessive polycystic kidney disease
  • c.11310+13A>G Multiple submitters autosomal recessive polycystic kidney disease
  • c.11310+19C>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.11311-19C>G Multiple submitters polycystic kidney disease 4
  • c.11506+14G>C Multiple submitters polycystic kidney disease 4
  • c.11506+16G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.11507-91A>G Multiple submitters
  • c.1233+163G>A Multiple submitters
  • c.130+12T>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.131-12C>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.131-16C>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.1513-298G>A Multiple submitters
  • c.1603-14_1603-13del Multiple submitters polycystic kidney disease 4
  • c.1603-19T>A Multiple submitters polycystic kidney disease 4
  • c.1693+172G>A Multiple submitters
  • c.1836+202G>A Multiple submitters
  • c.1837-20G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.2280-89C>G Multiple submitters
  • c.2407+53A>G Multiple submitters
  • c.2716-12G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.281+17A>G Multiple submitters autosomal recessive polycystic kidney disease
  • c.2821+10G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.3098-13G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.3229-7T>G Multiple submitters polycystic kidney disease 4
  • c.3365-32T>A Multiple submitters
  • c.3629-16C>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.390+100C>T Multiple submitters
  • c.390+172C>T Multiple submitters
  • c.449-78C>T Multiple submitters
  • c.527+194T>C Multiple submitters
  • c.5601-42T>C Multiple submitters
  • c.5909-19T>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.5909-22C>A Multiple submitters
  • c.602+144C>T Multiple submitters
  • c.603-22C>A Multiple submitters
  • c.6121+13A>G Multiple submitters autosomal recessive polycystic kidney disease
  • c.6122-13C>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.6490+8A>G Multiple submitters polycystic kidney disease 4
  • c.667+101A>C Multiple submitters
  • c.667+18C>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.668-130A>G Multiple submitters
  • c.668-61T>C Multiple submitters
  • c.6682+12C>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.707+12G>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.7350+13G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.7350+670T>C Multiple submitters
  • c.7487-19T>C Multiple submitters autosomal recessive polycystic kidney disease
  • c.7733+43G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.779-13_779-12dup Multiple submitters
  • c.8174-19A>T Multiple submitters polycystic kidney disease 4
  • c.8440+71A>G Multiple submitters
  • c.8797+20G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.8798-117G>C Multiple submitters
  • c.881-106A>C Multiple submitters
  • c.881-46A>G Multiple submitters
  • c.8950+20A>G Multiple submitters autosomal recessive polycystic kidney disease
  • c.8951-19G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.977-19C>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.977-20G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.977-9G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.9829+20C>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.-84-60C>T Multiple submitters
  • c.*1525G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.*2201G>A Multiple submitters autosomal recessive polycystic kidney disease
  • c.*2331C>T Multiple submitters autosomal recessive polycystic kidney disease
  • c.*3044A>T Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ala1245= Multiple submitters polycystic kidney disease 4
  • p.Ala2266= Multiple submitters polycystic kidney disease 4
  • p.Ala3072= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ala3986= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ala462= Multiple submitters polycystic kidney disease 4
  • p.Arg196= Multiple submitters polycystic kidney disease 4
  • p.Arg1997= Multiple submitters polycystic kidney disease 4
  • p.Arg2891= Multiple submitters polycystic kidney disease 4
  • p.Arg2966= Multiple submitters polycystic kidney disease 4
  • p.Arg3842Gln Multiple submitters autosomal recessive polycystic kidney disease
  • p.Asn1312= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Asn1602= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Asn1945= Multiple submitters polycystic kidney disease 4
  • p.Asn2257= Multiple submitters polycystic kidney disease 4
  • p.Asn3384= Multiple submitters polycystic kidney disease 4
  • p.Asp2762= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Asp2889= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Asp3540= Multiple submitters polycystic kidney disease 4
  • p.Cys127= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Cys1846= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln3410= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln3425= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln3467= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gln4029= Multiple submitters polycystic kidney disease 4
  • p.Glu102= Multiple submitters polycystic kidney disease 4
  • p.Glu2075= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Glu2810= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Glu3582= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gly1757= Multiple submitters polycystic kidney disease 4
  • p.Gly3025= Multiple submitters polycystic kidney disease 4
  • p.Gly3918= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gly3937= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Gly4055= Multiple submitters polycystic kidney disease 4
  • p.His1852= Multiple submitters autosomal recessive polycystic kidney disease
  • p.His1986= Multiple submitters polycystic kidney disease 4
  • p.His846= Multiple submitters polycystic kidney disease 4
  • p.Ile179= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ile3515= Multiple submitters polycystic kidney disease 4
  • p.Ile3820= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ile3975= Multiple submitters polycystic kidney disease 4
  • p.Leu1790= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu1837= Multiple submitters polycystic kidney disease 4
  • p.Leu1847= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu210= Multiple submitters polycystic kidney disease 4
  • p.Leu2252= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu2513= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu2531= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu271His Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu2764= Multiple submitters polycystic kidney disease 4
  • p.Leu3702= Multiple submitters polycystic kidney disease 4
  • p.Leu3764= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Leu850= Multiple submitters polycystic kidney disease 4
  • p.Lys3110= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Lys4039= Multiple submitters polycystic kidney disease 4
  • p.Phe1924= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Phe2996= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Phe3437= Multiple submitters polycystic kidney disease 4
  • p.Pro1203= Multiple submitters polycystic kidney disease 4
  • p.Pro678= Multiple submitters polycystic kidney disease 4
  • p.Ser1156= Multiple submitters polycystic kidney disease 4
  • p.Ser1175= Multiple submitters polycystic kidney disease 4
  • p.Ser1215= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser1397= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser2800= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser2934= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser3680= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Ser418= Multiple submitters polycystic kidney disease 4
  • p.Thr1742= Multiple submitters polycystic kidney disease 4
  • p.Thr1896= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Thr2273= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Thr744= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Tyr2638= Multiple submitters polycystic kidney disease 4
  • p.Tyr844= Multiple submitters polycystic kidney disease 4
  • p.Val1061= Multiple submitters polycystic kidney disease 4
  • p.Val1287Gly Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val264= Multiple submitters polycystic kidney disease 4
  • p.Val2836Ile Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val3411= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val3471= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val3498= Multiple submitters autosomal recessive polycystic kidney disease
  • p.Val3661= Multiple submitters polycystic kidney disease 4
  • p.Val639= Multiple submitters polycystic kidney disease 4
  • p.Val804= Multiple submitters autosomal recessive polycystic kidney disease
  • c.10156+14G>A Single submitter
  • c.10156+20A>C Single submitter autosomal recessive polycystic kidney disease
  • c.10156+22235C>T Single submitter
  • c.10156+8A>G Single submitter autosomal recessive polycystic kidney disease
  • c.10156+9T>C Single submitter autosomal recessive polycystic kidney disease
  • c.10157-14_10157-12del Single submitter autosomal recessive polycystic kidney disease
  • c.10157-8T>C Single submitter autosomal recessive polycystic kidney disease
  • c.10157-9_10157-5del Single submitter autosomal recessive polycystic kidney disease
  • c.10157-9C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11174+13T>C Single submitter autosomal recessive polycystic kidney disease
  • c.11174+18T>C Single submitter autosomal recessive polycystic kidney disease
  • c.11174+19C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11174+7A>C Single submitter autosomal recessive polycystic kidney disease
  • c.11174+9T>A Single submitter autosomal recessive polycystic kidney disease
  • c.11174+9T>G Single submitter autosomal recessive polycystic kidney disease
  • c.11175-16T>C Single submitter autosomal recessive polycystic kidney disease
  • c.11175-17G>A Single submitter autosomal recessive polycystic kidney disease
  • c.1118+19G>T Single submitter autosomal recessive polycystic kidney disease
  • c.1118+248A>C Single submitter
  • c.1118+9T>G Single submitter autosomal recessive polycystic kidney disease
  • c.1119-15T>C Single submitter autosomal recessive polycystic kidney disease
  • c.1119-16A>G Single submitter autosomal recessive polycystic kidney disease
  • c.1119-17T>C Single submitter autosomal recessive polycystic kidney disease
  • c.1119-190T>C Single submitter
  • c.1119-20C>A Single submitter autosomal recessive polycystic kidney disease
  • c.1119-4A>G Single submitter autosomal recessive polycystic kidney disease
  • c.1119-7T>G Single submitter autosomal recessive polycystic kidney disease
  • c.1119-9A>C Single submitter autosomal recessive polycystic kidney disease
  • c.1119-9A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11310+11A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11310+12C>A Single submitter autosomal recessive polycystic kidney disease
  • c.11310+15G>A Single submitter autosomal recessive polycystic kidney disease
  • c.11310+15G>T Single submitter autosomal recessive polycystic kidney disease
  • c.11310+20A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11310+8T>G Single submitter autosomal recessive polycystic kidney disease
  • c.11311-10C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11311-11C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11311-15T>A Single submitter autosomal recessive polycystic kidney disease
  • c.11311-15T>G Single submitter autosomal recessive polycystic kidney disease
  • c.11311-16C>G Single submitter autosomal recessive polycystic kidney disease
  • c.11311-17C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11311-20C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11311-27C>T Single submitter
  • c.11311-8A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11311-9C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11398+10G>T Single submitter autosomal recessive polycystic kidney disease
  • c.11398+12A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11398+13T>C Single submitter autosomal recessive polycystic kidney disease
  • c.11398+15del Single submitter autosomal recessive polycystic kidney disease
  • c.11398+16G>A Single submitter autosomal recessive polycystic kidney disease
  • c.11398+7A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11399-10dup Single submitter autosomal recessive polycystic kidney disease
  • c.11399-10T>C Single submitter autosomal recessive polycystic kidney disease
  • c.11399-12A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11399-12A>T Single submitter autosomal recessive polycystic kidney disease
  • c.11399-17T>C Single submitter autosomal recessive polycystic kidney disease
  • c.11399-4G>T Single submitter autosomal recessive polycystic kidney disease
  • c.11399-5T>C Single submitter autosomal recessive polycystic kidney disease
  • c.11506+10T>C Single submitter autosomal recessive polycystic kidney disease
  • c.11506+12C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11506+145T>C Single submitter
  • c.11506+18G>A Single submitter autosomal recessive polycystic kidney disease
  • c.11506+19C>A Single submitter autosomal recessive polycystic kidney disease
  • c.11506+246C>T Single submitter
  • c.11506+7T>G Single submitter autosomal recessive polycystic kidney disease
  • c.11506+9A>T Single submitter autosomal recessive polycystic kidney disease
  • c.11507-14T>G Single submitter autosomal recessive polycystic kidney disease
  • c.11507-16_11507-14del Single submitter autosomal recessive polycystic kidney disease
  • c.11507-16C>A Single submitter autosomal recessive polycystic kidney disease
  • c.11507-4A>C Single submitter autosomal recessive polycystic kidney disease
  • c.11507-6C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11507-9C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11665+13T>G Single submitter autosomal recessive polycystic kidney disease
  • c.11665+16T>A Single submitter autosomal recessive polycystic kidney disease
  • c.11665+17T>G Single submitter autosomal recessive polycystic kidney disease
  • c.11665+18T>A Single submitter autosomal recessive polycystic kidney disease
  • c.11665+7A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11665+7A>T Single submitter autosomal recessive polycystic kidney disease
  • c.11665+8G>C Single submitter autosomal recessive polycystic kidney disease
  • c.11665+8G>T Single submitter autosomal recessive polycystic kidney disease
  • c.11666-10A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11666-14C>A Single submitter autosomal recessive polycystic kidney disease
  • c.11666-17C>G Single submitter autosomal recessive polycystic kidney disease
  • c.11666-17del Single submitter autosomal recessive polycystic kidney disease
  • c.11666-45C>T Single submitter
  • c.11666-7A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11785+11A>C Single submitter autosomal recessive polycystic kidney disease
  • c.11785+12G>A Single submitter autosomal recessive polycystic kidney disease
  • c.11785+13G>A Single submitter autosomal recessive polycystic kidney disease
  • c.11785+17G>A Single submitter autosomal recessive polycystic kidney disease
  • c.11785+18A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11785+19G>T Single submitter autosomal recessive polycystic kidney disease
  • c.11785+20A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11786-10T>C Single submitter autosomal recessive polycystic kidney disease
  • c.11786-16T>C Single submitter autosomal recessive polycystic kidney disease
  • c.11786-17A>G Single submitter autosomal recessive polycystic kidney disease
  • c.11786-18T>G Single submitter autosomal recessive polycystic kidney disease
  • c.11786-20C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11786-21_11786-10del Single submitter autosomal recessive polycystic kidney disease
  • c.11786-3dup Single submitter autosomal recessive polycystic kidney disease
  • c.11786-4C>A Single submitter autosomal recessive polycystic kidney disease
  • c.11786-4C>G Single submitter autosomal recessive polycystic kidney disease
  • c.11786-5C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11786-6C>G Single submitter autosomal recessive polycystic kidney disease
  • c.11786-6C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11786-8C>A Single submitter autosomal recessive polycystic kidney disease
  • c.11786-8C>T Single submitter autosomal recessive polycystic kidney disease
  • c.11786-9T>C Single submitter autosomal recessive polycystic kidney disease
  • c.1233+10G>C Single submitter autosomal recessive polycystic kidney disease
  • c.1233+14T>G Single submitter autosomal recessive polycystic kidney disease
  • c.1233+6dup Single submitter autosomal recessive polycystic kidney disease
  • c.1233+8C>G Single submitter autosomal recessive polycystic kidney disease
  • c.1234-16G>A Single submitter autosomal recessive polycystic kidney disease
  • c.1234-17del Single submitter autosomal recessive polycystic kidney disease
  • c.1234-17T>C Single submitter autosomal recessive polycystic kidney disease
  • c.1234-19T>C Single submitter autosomal recessive polycystic kidney disease
  • c.1234-4A>G Single submitter autosomal recessive polycystic kidney disease
  • c.130+11G>A Single submitter autosomal recessive polycystic kidney disease
  • c.130+11G>T Single submitter autosomal recessive polycystic kidney disease
  • c.130+12T>A Single submitter autosomal recessive polycystic kidney disease
  • c.130+16A>G Single submitter autosomal recessive polycystic kidney disease
  • c.130+16dup Single submitter autosomal recessive polycystic kidney disease
  • c.130+17C>T Single submitter autosomal recessive polycystic kidney disease
  • c.130+7T>G Single submitter autosomal recessive polycystic kidney disease
  • c.130+8G>T Single submitter autosomal recessive polycystic kidney disease
  • c.131-10C>T Single submitter autosomal recessive polycystic kidney disease
  • c.131-11C>T Single submitter autosomal recessive polycystic kidney disease
  • c.131-16C>A Single submitter autosomal recessive polycystic kidney disease
  • c.131-5G>A Single submitter autosomal recessive polycystic kidney disease
  • c.1512+10T>C Single submitter autosomal recessive polycystic kidney disease
  • c.1512+17A>T Single submitter autosomal recessive polycystic kidney disease
  • c.1512+7G>A Single submitter autosomal recessive polycystic kidney disease
  • c.1512+7G>T Single submitter autosomal recessive polycystic kidney disease
  • c.1512+91G>C Single submitter
  • c.1513-11G>C Single submitter autosomal recessive polycystic kidney disease
  • c.1513-133G>C Single submitter
  • c.1513-20G>A Single submitter autosomal recessive polycystic kidney disease
  • c.1513-7T>C Single submitter autosomal recessive polycystic kidney disease
  • c.1513-8T>A Single submitter autosomal recessive polycystic kidney disease
  • c.1602+10T>G Single submitter autosomal recessive polycystic kidney disease
  • c.1602+13T>C Single submitter autosomal recessive polycystic kidney disease
  • c.1602+7G>C Single submitter autosomal recessive polycystic kidney disease
  • c.1603-13T>C Single submitter autosomal recessive polycystic kidney disease
  • c.1603-16T>G Single submitter autosomal recessive polycystic kidney disease
  • c.1693+10G>T Single submitter autosomal recessive polycystic kidney disease
  • c.1693+11T>C Single submitter autosomal recessive polycystic kidney disease
  • c.1693+13G>A Single submitter autosomal recessive polycystic kidney disease
  • c.1693+18A>G Single submitter autosomal recessive polycystic kidney disease
  • c.1693+18A>T Single submitter autosomal recessive polycystic kidney disease
  • c.1693+8_1693+15del Single submitter autosomal recessive polycystic kidney disease
  • c.1694-10C>G Single submitter autosomal recessive polycystic kidney disease

Uncertain significance 2042

Showing the top 300 by review status; the full set is in the sitemap.