Sugi Variant

Sugi Variant/APC

APC — 13955 ClinVar variants

All ClinVar germline APC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2912 flagged for review →

1619 Pathogenic · 202 Pathogenic/Likely pathogenic · 224 Likely pathogenic · 746 Conflicting · 287 Benign · 1121 Benign/Likely benign · 1584 Likely benign · 8172 Uncertain significance

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

⚑ Evidence disagreements 2912

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 agree, ClinVar conflicts 209

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 209

Predicted LoF vs a conflicting call 10

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 2532

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 2532

Predictors split 161

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 161

All APC variants

Pathogenic 1619

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

  • c.1311_1312+1del Expert panel familial adenomatous polyposis 1
  • c.1312+3A>G Expert panel familial adenomatous polyposis 1
  • c.220+1G>A Expert panel familial adenomatous polyposis 1
  • c.220+2T>A Expert panel classic familial adenomatous polyposis
  • c.532-8G>A Expert panel familial adenomatous polyposis 1
  • p.Arg232Ter Expert panel familial adenomatous polyposis 1
  • p.Arg283Ter Expert panel familial adenomatous polyposis 1
  • p.Gln445Ter Expert panel familial adenomatous polyposis 1
  • p.Glu2172fs Expert panel familial adenomatous polyposis 1
  • p.Leu68fs Expert panel familial adenomatous polyposis 1
  • p.Ser634fs Expert panel familial adenomatous polyposis 1
  • p.Thr1556_Ile1557insTer Expert panel familial adenomatous polyposis 1
  • p.Trp157Ter Expert panel familial adenomatous polyposis 1
  • c.1312+1G>C Multiple submitters APC-related disorder
  • c.1312+3_1312+4del Multiple submitters familial adenomatous polyposis 1
  • c.1412dupG Multiple submitters hereditary neoplastic syndrome
  • c.1548+1G>A Multiple submitters familial adenomatous polyposis 1
  • c.1548+1G>C Multiple submitters familial adenomatous polyposis 1
  • c.1548+1G>T Multiple submitters familial adenomatous polyposis 1
  • c.1744-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1744-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.1744-4C>G Multiple submitters hereditary neoplastic syndrome
  • c.1958+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1958+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.1958+2T>A Multiple submitters hereditary neoplastic syndrome
  • c.1958+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.423-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.423-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.423-1G>T Multiple submitters familial adenomatous polyposis 1
  • c.423-2A>C Multiple submitters hereditary neoplastic syndrome
  • c.423-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.423-2A>T Multiple submitters hereditary neoplastic syndrome
  • c.531+2dup Multiple submitters familial adenomatous polyposis 1
  • c.531+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.531+3A>C Multiple submitters hereditary neoplastic syndrome
  • c.532-2A>G Multiple submitters classic familial adenomatous polyposis
  • c.730_731delAG Multiple submitters hereditary neoplastic syndrome
  • c.730-494C>G Multiple submitters hereditary neoplastic syndrome
  • p.Ala1050fs Multiple submitters Inherited polyposis and early onset colorectal cancer - germline testing
  • p.Ala1107fs Multiple submitters familial adenomatous polyposis 1
  • p.Ala1299fs Multiple submitters familial adenomatous polyposis 1
  • p.Ala1402fs Multiple submitters familial adenomatous polyposis 1
  • p.Ala1492fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala1595fs Multiple submitters familial adenomatous polyposis 1
  • p.Ala1945fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala1955fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala381fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala385fs Multiple submitters familial adenomatous polyposis 1
  • p.Ala465fs Multiple submitters familial adenomatous polyposis 1
  • p.Ala514Ter Multiple submitters familial adenomatous polyposis 1
  • p.Ala545fs Multiple submitters familial adenomatous polyposis 1
  • p.Ala604_Asp605insTer Multiple submitters familial adenomatous polyposis 1
  • p.Ala689fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala885fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala896fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala921fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala927fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg1114Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg1273Ter Multiple submitters familial adenomatous polyposis 1
  • p.Arg1336Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg1399fs Multiple submitters familial adenomatous polyposis 1
  • p.Arg141fs Multiple submitters familial adenomatous polyposis 1
  • p.Arg141Ser Multiple submitters familial adenomatous polyposis 1
  • p.Arg1450Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg1676Ter Multiple submitters familial adenomatous polyposis 1
  • p.Arg1687fs Multiple submitters familial adenomatous polyposis 1
  • p.Arg1803fs Multiple submitters familial adenomatous polyposis 1
  • p.Arg1835fs Multiple submitters familial adenomatous polyposis 1
  • p.Arg1858Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg186fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg187fs Multiple submitters familial adenomatous polyposis 1
  • p.Arg1920fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg2166Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg216Ter Multiple submitters APC associated polyposis
  • p.Arg230fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg2565fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg303fs Multiple submitters familial adenomatous polyposis 1
  • p.Arg332Ter Multiple submitters Desmoid disease, hereditary
  • p.Arg348fs Multiple submitters familial adenomatous polyposis 1
  • p.Arg399fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg401fs Multiple submitters familial adenomatous polyposis 1
  • p.Arg405Ter Multiple submitters Inherited polyposis and early onset colorectal cancer - germline testing
  • p.Arg414fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg499_Tyr500insTer Multiple submitters hereditary neoplastic syndrome
  • p.Arg499Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg527Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg554Ter Multiple submitters hepatocellular carcinoma
  • p.Arg564Ter Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Arg653Gly Multiple submitters hereditary neoplastic syndrome
  • p.Arg653Lys Multiple submitters hereditary neoplastic syndrome
  • p.Arg653Met Multiple submitters hereditary neoplastic syndrome
  • p.Arg805Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg876Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg904fs Multiple submitters classic familial adenomatous polyposis
  • p.Asn1070fs Multiple submitters familial adenomatous polyposis 1
  • p.Asn1535fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn1546fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn1716fs Multiple submitters familial adenomatous polyposis 1
  • p.Asn1729fs Multiple submitters familial adenomatous polyposis 1
  • p.Asn1792fs Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asn1830fs Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asn1887fs Multiple submitters familial adenomatous polyposis 1
  • p.Asn1979fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn2162fs Multiple submitters familial adenomatous polyposis 1
  • p.Asn2624fs Multiple submitters familial adenomatous polyposis 1
  • p.Asn363fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn436fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn490fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn558fs Multiple submitters familial adenomatous polyposis 1
  • p.Asn627fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn659fs Multiple submitters familial adenomatous polyposis 1
  • p.Asn732fs Multiple submitters familial adenomatous polyposis 1
  • p.Asn778_Leu779insTer Multiple submitters familial adenomatous polyposis 1
  • p.Asn920fs Multiple submitters familial adenomatous polyposis 1
  • p.Asn936fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn965fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp1134_Tyr1135insTer Multiple submitters hereditary neoplastic syndrome
  • p.Asp1178fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp1186fs Multiple submitters familial adenomatous polyposis 1
  • p.Asp1394fs Multiple submitters familial adenomatous polyposis 1
  • p.Asp147fs Multiple submitters familial adenomatous polyposis 1
  • p.Asp1569fs Multiple submitters familial adenomatous polyposis 1
  • p.Asp1636fs Multiple submitters familial adenomatous polyposis 1
  • p.Asp170fs Multiple submitters familial adenomatous polyposis 1
  • p.Asp1715fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp1860_Ser1861insTer Multiple submitters familial adenomatous polyposis 1
  • p.Asp1942fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp1948fs Multiple submitters familial adenomatous polyposis 1
  • p.Asp2033_Ser2034insTer Multiple submitters familial adenomatous polyposis 1
  • p.Asp2095fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp2131fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp285fs Multiple submitters familial adenomatous polyposis 1
  • p.Asp366fs Multiple submitters APC-related disorder
  • p.Asp491fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp610fs Multiple submitters familial adenomatous polyposis 1
  • p.Asp78fs Multiple submitters APC-related disorder
  • p.Asp812fs Multiple submitters familial adenomatous polyposis 1
  • p.Asp849fs Multiple submitters familial adenomatous polyposis 1
  • p.Asp971fs Multiple submitters familial adenomatous polyposis 1
  • p.Asp990fs Multiple submitters familial adenomatous polyposis 1
  • p.Cys1270fs Multiple submitters familial adenomatous polyposis 1
  • p.Cys1270Ter Multiple submitters hereditary neoplastic syndrome
  • p.Cys1274Ter Multiple submitters hereditary neoplastic syndrome
  • p.Cys1289Ter Multiple submitters hereditary neoplastic syndrome
  • p.Cys1578fs Multiple submitters hereditary neoplastic syndrome
  • p.Cys1643fs Multiple submitters hereditary neoplastic syndrome
  • p.Cys344Ter Multiple submitters hereditary neoplastic syndrome
  • p.Cys483_Glu484delinsTer Multiple submitters familial adenomatous polyposis 1
  • p.Cys525fs Multiple submitters familial adenomatous polyposis 1
  • p.Cys525Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1035Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1041Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1062_Ser1063insTer Multiple submitters familial adenomatous polyposis 1
  • p.Gln1062fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln1062Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1067fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln1067Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1071fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln1071Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1090Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1096Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1123Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1127Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1131Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1152fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln1152Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1175Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1191Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1193Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1228Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1230fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln1230Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1237Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1242Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1244Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1256Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1291fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln1291Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1294Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1303Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1328fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln1328Ter Multiple submitters APC-related disorder
  • p.Gln1367Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1378Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1406Ter Multiple submitters Inherited polyposis and early onset colorectal cancer - germline testing
  • p.Gln1429Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1447Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1469Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1477Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1480Ter Multiple submitters APC-related disorder
  • p.Gln1517Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1529Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1541Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1549Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1611fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln161Ter Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Gln1627Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln163Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1701Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1781Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln181Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln188Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1922Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1952fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln195Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln203fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln203Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln208Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln215Ter Multiple submitters colorectal cancer
  • p.Gln222Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln223Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln2315fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln233Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln236Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln2372Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln238Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln2478fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln247Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln2480Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln2500Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln264Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln278Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln349Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln358Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln394fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln394Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln412Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln424Ter Multiple submitters classic familial adenomatous polyposis
  • p.Gln433Ter Multiple submitters APC-related disorder
  • p.Gln473Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln480Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln50fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln50Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln52Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln532fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln541Ter Multiple submitters Inherited polyposis and early onset colorectal cancer - germline testing
  • p.Gln542fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln542Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln625Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln654Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln663Ter Multiple submitters APC-related disorder
  • p.Gln667Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln695fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln695Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln757Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln767Ter Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Gln789Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln793Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln879Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln886Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln901fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln901Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln978Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln999Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1059fs Multiple submitters familial adenomatous polyposis 1
  • p.Glu1064fs Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Glu1154Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1157fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu1169fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu1216fs Multiple submitters familial adenomatous polyposis 1
  • p.Glu1257fs Multiple submitters familial adenomatous polyposis 1
  • p.Glu1257Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1286Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1295fs Multiple submitters classic familial adenomatous polyposis
  • p.Glu129fs Multiple submitters familial adenomatous polyposis 1
  • p.Glu129Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1306Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1309fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu1309Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1345Ter Multiple submitters familial adenomatous polyposis 1
  • p.Glu1353Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1379Ter Multiple submitters familial adenomatous polyposis 1
  • p.Glu138Ter Multiple submitters colorectal cancer
  • p.Glu151fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu152fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu1538fs Multiple submitters Desmoid disease, hereditary
  • p.Glu154fs Multiple submitters familial adenomatous polyposis 1
  • p.Glu1554Ter Multiple submitters familial adenomatous polyposis 1
  • p.Glu1576Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1663Ter Multiple submitters classic familial adenomatous polyposis
  • p.Glu1712fs Multiple submitters classic familial adenomatous polyposis
  • p.Glu1719fs Multiple submitters familial adenomatous polyposis 1
  • p.Glu1985fs Multiple submitters familial adenomatous polyposis 1
  • p.Glu2172Ter Multiple submitters familial adenomatous polyposis 1
  • p.Glu2208fs Multiple submitters familial adenomatous polyposis 1
  • p.Glu225Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu241Ter Multiple submitters familial adenomatous polyposis 1
  • p.Glu2639Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu268Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu460Ter Multiple submitters familial adenomatous polyposis 1
  • p.Glu461fs Multiple submitters colorectal cancer
  • p.Glu477fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu536fs Multiple submitters familial adenomatous polyposis 1
  • p.Glu538fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu538Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu565Ter Multiple submitters familial adenomatous polyposis 1
  • p.Glu574Ter Multiple submitters familial adenomatous polyposis 1
  • p.Glu658fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu74fs Multiple submitters classic familial adenomatous polyposis
  • p.Glu855fs Multiple submitters hereditary neoplastic syndrome

Pathogenic/Likely pathogenic 202

  • c.1312+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1312+3A>T Multiple submitters familial adenomatous polyposis 1
  • c.136-1G>A Multiple submitters familial adenomatous polyposis 1
  • c.136-2A>G Multiple submitters familial adenomatous polyposis 1
  • c.1409-1G>A Multiple submitters familial adenomatous polyposis 1
  • c.1409-1G>C Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.1409-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.1409-2_1409del Multiple submitters hereditary neoplastic syndrome
  • c.1409-2A>C Multiple submitters hereditary neoplastic syndrome
  • c.1409-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.1409-2del Multiple submitters familial adenomatous polyposis 1
  • c.1548+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.1549-2A>G Multiple submitters familial adenomatous polyposis 1
  • c.1626+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1627-2A>T Multiple submitters hereditary neoplastic syndrome
  • c.1743+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1743+1G>C Multiple submitters classic familial adenomatous polyposis
  • c.1744-2A>T Multiple submitters familial adenomatous polyposis 1
  • c.1958+1_1958+2dup Multiple submitters hereditary neoplastic syndrome
  • c.1958+2T>G Multiple submitters classic familial adenomatous polyposis
  • c.1958+3A>T Multiple submitters familial adenomatous polyposis 1
  • c.1959-1G>A Multiple submitters familial adenomatous polyposis 1
  • c.221-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.221-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.221-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.422+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.422+2T>G Multiple submitters familial adenomatous polyposis 1
  • c.423-12A>G Multiple submitters Inherited polyposis and early onset colorectal cancer - germline testing
  • c.423-3_456del Multiple submitters hereditary neoplastic syndrome
  • c.423-3958C>T Multiple submitters hereditary neoplastic syndrome
  • c.423-3T>A Multiple submitters hereditary neoplastic syndrome
  • c.524_531+4del Multiple submitters hereditary neoplastic syndrome
  • c.531+1482A>G Multiple submitters hereditary neoplastic syndrome
  • c.531+1G>A Multiple submitters familial adenomatous polyposis 1
  • c.531+1G>C Multiple submitters APC-related disorder
  • c.531+1G>T Multiple submitters familial adenomatous polyposis 1
  • c.531+2T>A Multiple submitters hereditary neoplastic syndrome
  • c.532-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.532-2A>T Multiple submitters familial adenomatous polyposis 1
  • c.645+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.645+1G>T Multiple submitters familial adenomatous polyposis 1
  • c.646-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.646-2A>C Multiple submitters hereditary neoplastic syndrome
  • c.646-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.834+1G>A Multiple submitters familial adenomatous polyposis 1
  • c.835-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.931_933+2delinsCA Multiple submitters hereditary neoplastic syndrome
  • c.933+1G>A Multiple submitters colon carcinoma
  • c.933+2T>C Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.933+829A>G Multiple submitters hereditary neoplastic syndrome
  • c.-190G>A Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.-191T>C Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala1598fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala2004fs Multiple submitters familial adenomatous polyposis 1
  • p.Ala2128fs Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala504_Leu505insTer Multiple submitters classic familial adenomatous polyposis
  • p.Arg1066fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg1158Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg1239fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg168fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg1920Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg213fs Multiple submitters familial adenomatous polyposis 1
  • p.Arg213Ter Multiple submitters colon carcinoma
  • p.Arg2204Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg2226Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg2237Ter Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Arg2326Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg2434fs Multiple submitters familial adenomatous polyposis 1
  • p.Arg2505Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg2560Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg302Ter Multiple submitters hereditary neoplastic syndrome
  • p.Asn1224fs Multiple submitters familial adenomatous polyposis 1
  • p.Asn1622fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn961fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp1058fs Multiple submitters familial adenomatous polyposis 1
  • p.Asp2490fs Multiple submitters hereditary neoplastic syndrome
  • p.Cys1263fs Multiple submitters familial adenomatous polyposis 1
  • p.Cys1410Ter Multiple submitters familial adenomatous polyposis 1
  • p.Cys447Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1045Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln1095Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1338fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln1596fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln1611Ter Multiple submitters gastric cancer
  • p.Gln1625fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln1680fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln1996fs Multiple submitters familial adenomatous polyposis 1
  • p.Gln2212fs Multiple submitters gastric adenocarcinoma and proximal polyposis of the stomach
  • p.Gln2218Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln2288Ter Multiple submitters familial adenomatous polyposis 1
  • p.Gln260Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln2628Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln278= Multiple submitters hereditary neoplastic syndrome
  • p.Gln532Ter Multiple submitters familial adenomatous polyposis 1
  • p.Glu100fs Multiple submitters classic familial adenomatous polyposis
  • p.Glu100Ter Multiple submitters familial adenomatous polyposis 1
  • p.Glu1209Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1265delinsAlaTer Multiple submitters familial adenomatous polyposis 1
  • p.Glu1374Ter Multiple submitters familial adenomatous polyposis 1
  • p.Glu1408Ter Multiple submitters familial adenomatous polyposis 1
  • p.Glu1521Ter Multiple submitters APC-related disorder
  • p.Glu1719Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1889_Ser1890insTer Multiple submitters hereditary neoplastic syndrome
  • p.Glu2035fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu313fs Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Glu74Lys Multiple submitters hereditary neoplastic syndrome
  • p.Glu74Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu763Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu893Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu984Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gly1106fs Multiple submitters APC-related disorder
  • p.Gly1203Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gly1288fs Multiple submitters hereditary neoplastic syndrome
  • p.Gly1682_Glu1683insTer Multiple submitters hereditary neoplastic syndrome
  • p.Gly1836fs Multiple submitters hereditary neoplastic syndrome
  • p.Gly1836Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gly2250fs Multiple submitters familial adenomatous polyposis 1
  • p.Gly637fs Multiple submitters familial adenomatous polyposis 1
  • p.Gly839fs Multiple submitters familial adenomatous polyposis 1
  • p.His1738fs Multiple submitters familial adenomatous polyposis 1
  • p.His753fs Multiple submitters hereditary neoplastic syndrome
  • p.Ile1418fs Multiple submitters familial adenomatous polyposis 1
  • p.Ile1662fs Multiple submitters familial adenomatous polyposis 1
  • p.Ile169_Asp170insTer Multiple submitters familial adenomatous polyposis 1
  • p.Ile1746fs Multiple submitters familial adenomatous polyposis 1
  • p.Ile2181fs Multiple submitters classic familial adenomatous polyposis
  • p.Ile2644fs Multiple submitters hereditary neoplastic syndrome
  • p.Ile631fs Multiple submitters classic familial adenomatous polyposis
  • p.Leu1277Ter Multiple submitters hereditary neoplastic syndrome
  • p.Leu1382fs Multiple submitters familial adenomatous polyposis 1
  • p.Leu1509fs Multiple submitters familial adenomatous polyposis 1
  • p.Leu1862fs Multiple submitters classic familial adenomatous polyposis
  • p.Leu2282Ter Multiple submitters hereditary neoplastic syndrome
  • p.Leu2465fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu2493fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu2643fs Multiple submitters APC-related disorder
  • p.Leu410fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu729fs Multiple submitters familial adenomatous polyposis 1
  • p.Leu912fs Multiple submitters familial adenomatous polyposis 1
  • p.Lys1182fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys150fs Multiple submitters classic familial adenomatous polyposis
  • p.Lys1551Ter Multiple submitters APC-related disorder
  • p.Lys1883fs Multiple submitters familial adenomatous polyposis 1
  • p.Lys2179Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys2254Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys226fs Multiple submitters APC associated polyposis
  • p.Lys2524Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys2616_Glu2617insTer Multiple submitters familial adenomatous polyposis 1
  • p.Lys311= Multiple submitters hereditary neoplastic syndrome
  • p.Lys398fs Multiple submitters familial adenomatous polyposis 1
  • p.Lys516= Multiple submitters familial adenomatous polyposis 1
  • p.Lys980fs Multiple submitters familial adenomatous polyposis 1
  • p.Met91fs Multiple submitters familial adenomatous polyposis 1
  • p.Phe510fs Multiple submitters classic familial adenomatous polyposis
  • p.Pro1319fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro1458fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro1594fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro2094fs Multiple submitters familial adenomatous polyposis 1
  • p.Pro2339fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro2540fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro832fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro950fs Multiple submitters familial adenomatous polyposis 1
  • p.Ser104Ter Multiple submitters hereditary neoplastic syndrome
  • p.Ser1163fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser1190Ter Multiple submitters familial adenomatous polyposis 1
  • p.Ser1214fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser1272fs Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ser130fs Multiple submitters familial adenomatous polyposis 1
  • p.Ser1392fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser1658fs Multiple submitters familial adenomatous polyposis 1
  • p.Ser1795Ter Multiple submitters familial adenomatous polyposis 1
  • p.Ser1857fs Multiple submitters familial adenomatous polyposis 1
  • p.Ser1890Ter Multiple submitters hereditary neoplastic syndrome
  • p.Ser1970fs Multiple submitters familial adenomatous polyposis 1
  • p.Ser2005Ter Multiple submitters familial adenomatous polyposis 1
  • p.Ser2031fs Multiple submitters familial adenomatous polyposis 1
  • p.Ser2129Ter Multiple submitters familial adenomatous polyposis 1
  • p.Ser2132Ter Multiple submitters hereditary neoplastic syndrome
  • p.Ser2307fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser2424fs Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ser583Ter Multiple submitters familial adenomatous polyposis 1
  • p.Ser873fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser895Ter Multiple submitters hereditary neoplastic syndrome
  • p.Thr1292_Gln1294delinsLysMetLysTer Multiple submitters classic familial adenomatous polyposis
  • p.Thr1301fs Multiple submitters familial adenomatous polyposis 1
  • p.Thr1537fs Multiple submitters familial adenomatous polyposis 1
  • p.Thr1647fs Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Thr2077fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr2353fs Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Thr2379fs Multiple submitters familial adenomatous polyposis 1
  • p.Thr2635fs Multiple submitters hereditary neoplastic syndrome
  • p.Trp2504Ter Multiple submitters hereditary neoplastic syndrome
  • p.Trp2564Ter Multiple submitters hereditary neoplastic syndrome
  • p.Trp685Ter Multiple submitters familial adenomatous polyposis 1
  • p.Tyr1147_Ser1148insTer Multiple submitters hereditary neoplastic syndrome
  • p.Tyr1854Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr191Ter Multiple submitters familial adenomatous polyposis 1
  • p.Tyr416fs Multiple submitters familial adenomatous polyposis 1
  • p.Tyr796fs Multiple submitters familial adenomatous polyposis 1
  • p.Val1390fs Multiple submitters familial adenomatous polyposis 1
  • p.Val1834fs Multiple submitters familial adenomatous polyposis 1
  • p.Val2194fs Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 224

Conflicting classifications of pathogenicity 746

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

  • c.1312+12A>G Single submitter familial adenomatous polyposis 1
  • c.1313-11T>G Single submitter hereditary neoplastic syndrome
  • c.1313-2A>G Single submitter familial adenomatous polyposis 1 ⚠
  • c.135+4T>A Single submitter familial adenomatous polyposis 1
  • c.135+5C>G Single submitter familial adenomatous polyposis 1
  • c.135+6_135+7del Single submitter familial adenomatous polyposis 1
  • c.135+8G>C Single submitter hereditary neoplastic syndrome
  • c.136-3C>T Single submitter familial adenomatous polyposis 1
  • c.136-5A>G Single submitter familial adenomatous polyposis 1
  • c.1408+3A>G Single submitter familial adenomatous polyposis 1
  • c.1408+5G>A Single submitter classic or attenuated familial adenomatous polyposis
  • c.1409-17T>G Single submitter hereditary neoplastic syndrome
  • c.1409-5A>C Single submitter hereditary neoplastic syndrome
  • c.1549-12T>C Single submitter hereditary neoplastic syndrome
  • c.1626+4C>A Single submitter familial adenomatous polyposis 1
  • c.1626+4C>T Single submitter hereditary neoplastic syndrome
  • c.1627-10T>A Single submitter classic or attenuated familial adenomatous polyposis
  • c.1627-3C>A Single submitter familial adenomatous polyposis 1
  • c.1627-3C>T Single submitter hereditary neoplastic syndrome
  • c.165+20T>C Single submitter familial adenomatous polyposis 1
  • c.165+3G>T Single submitter familial adenomatous polyposis 1
  • c.166-28443T>A Single submitter hereditary neoplastic syndrome
  • c.1743+5C>G Single submitter hereditary neoplastic syndrome
  • c.1743+5C>T Single submitter hereditary neoplastic syndrome
  • c.1743+6T>C Single submitter hereditary neoplastic syndrome
  • c.1744-14C>A Single submitter classic or attenuated familial adenomatous polyposis
  • c.1744-3T>C Single submitter familial adenomatous polyposis 1
  • c.1744-5A>T Single submitter familial adenomatous polyposis 1
  • c.1958+1_1958+4dup Single submitter familial adenomatous polyposis 1 ⚠
  • c.1958+5A>C Single submitter classic or attenuated familial adenomatous polyposis
  • c.1959-6T>C Single submitter familial adenomatous polyposis 1
  • c.220+18G>A Single submitter hereditary neoplastic syndrome
  • c.220+4G>A Single submitter familial adenomatous polyposis 1
  • c.220+6T>C Single submitter classic or attenuated familial adenomatous polyposis
  • c.221-5T>C Single submitter familial adenomatous polyposis 1
  • c.221-5T>G Single submitter hereditary neoplastic syndrome
  • c.423-30_423-15delinsGT Single submitter hereditary neoplastic syndrome
  • c.423-3T>C Single submitter familial adenomatous polyposis 1
  • c.423-6_423-4del Single submitter hereditary neoplastic syndrome
  • c.531+7A>G Single submitter familial adenomatous polyposis 1
  • c.531+9C>G Single submitter hereditary neoplastic syndrome
  • c.532-16T>G Single submitter familial adenomatous polyposis 1
  • c.532-3T>C Single submitter familial adenomatous polyposis 1
  • c.532-6T>C Single submitter familial adenomatous polyposis 1
  • c.532-9del Single submitter familial adenomatous polyposis 1
  • c.646-8T>A Single submitter classic or attenuated familial adenomatous polyposis
  • c.729+3T>C Single submitter familial adenomatous polyposis 1
  • c.730-13T>C Single submitter familial adenomatous polyposis 1
  • c.730-14C>G Single submitter familial adenomatous polyposis 1
  • c.730-3C>T Single submitter familial adenomatous polyposis 1
  • c.730-5A>G Single submitter familial adenomatous polyposis 1
  • c.730-7T>C Single submitter familial adenomatous polyposis 1
  • c.730-9T>A Single submitter hereditary neoplastic syndrome
  • c.834+3A>T Single submitter familial adenomatous polyposis 1
  • c.834+5A>G Single submitter familial adenomatous polyposis 1
  • c.835-11T>G Single submitter familial adenomatous polyposis 1
  • c.835-3T>C Single submitter hereditary neoplastic syndrome
  • c.835-4T>G Single submitter familial adenomatous polyposis 1
  • c.933+5C>A Single submitter hereditary neoplastic syndrome
  • c.933+5C>G Single submitter hereditary neoplastic syndrome
  • c.933+5C>T Single submitter hereditary neoplastic syndrome
  • c.934-14C>T Single submitter hereditary neoplastic syndrome
  • c.-109C>T Single submitter familial adenomatous polyposis 1
  • c.-123C>T Single submitter familial adenomatous polyposis 1
  • c.-125A>T Single submitter hereditary neoplastic syndrome
  • c.-126_-125insGA Single submitter familial adenomatous polyposis 1
  • c.-126G>C Single submitter hereditary neoplastic syndrome
  • c.-126G>T Single submitter familial adenomatous polyposis 1
  • c.-128G>C Single submitter Desmoid disease, hereditary
  • c.-140C>G Single submitter familial adenomatous polyposis 1
  • c.-151G>C Single submitter familial adenomatous polyposis 1
  • c.-166C>T Single submitter familial adenomatous polyposis 1
  • c.-188C>T Single submitter hereditary neoplastic syndrome
  • c.-192A>T Single submitter classic or attenuated familial adenomatous polyposis
  • c.-195A>C Single submitter classic or attenuated familial adenomatous polyposis
  • c.-204A>G Single submitter Desmoid disease, hereditary
  • c.-35G>A Single submitter familial adenomatous polyposis 1
  • c.-39T>A Single submitter familial adenomatous polyposis 1
  • c.-3C>A Single submitter familial adenomatous polyposis 1
  • c.-40G>A Single submitter familial adenomatous polyposis 1
  • c.-43A>C Single submitter familial adenomatous polyposis 1
  • c.-79G>A Single submitter familial adenomatous polyposis 1
  • c.*10A>G Single submitter hereditary neoplastic syndrome
  • c.*2AG[1] Single submitter hereditary neoplastic syndrome
  • c.*2AG[2] Single submitter hereditary neoplastic syndrome
  • c.*2AG[4] Single submitter hereditary neoplastic syndrome
  • c.*5G>C Single submitter hereditary neoplastic syndrome
  • c.*7G>A Single submitter hereditary neoplastic syndrome
  • c.*9A>G Single submitter hereditary neoplastic syndrome
  • p.Ala1225= Single submitter familial adenomatous polyposis 1
  • p.Ala1305= Single submitter classic or attenuated familial adenomatous polyposis
  • p.Ala1316Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala1358Thr Single submitter classic or attenuated familial adenomatous polyposis
  • p.Ala1358Val Single submitter hereditary neoplastic syndrome
  • p.Ala1446Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala1457Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala1475Val Single submitter classic or attenuated familial adenomatous polyposis
  • p.Ala1492Asp Single submitter hereditary neoplastic syndrome
  • p.Ala1595Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala1670Val Single submitter hereditary neoplastic syndrome
  • p.Ala1718Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala1753Pro Single submitter classic or attenuated familial adenomatous polyposis
  • p.Ala1755Val Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala1793Gly Single submitter Desmoid disease, hereditary ⚠
  • p.Ala1793Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala1879Ser Single submitter classic or attenuated familial adenomatous polyposis
  • p.Ala1884Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala1914Gly Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala1914Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala2046Thr Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala2128Val Single submitter Desmoid disease, hereditary
  • p.Ala219Thr Single submitter familial adenomatous polyposis 1 ⚠
  • p.Ala2219Val Single submitter familial adenomatous polyposis 1
  • p.Ala2274Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala2286Val Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala2298Gly Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala242= Single submitter hereditary neoplastic syndrome
  • p.Ala2460Pro Single submitter classic or attenuated familial adenomatous polyposis
  • p.Ala2460Val Single submitter hereditary neoplastic syndrome
  • p.Ala2472Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala2584Thr Single submitter hereditary neoplastic syndrome
  • p.Ala2608Thr Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala2648Thr Single submitter familial adenomatous polyposis 1
  • p.Ala2702Thr Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala2778Ser Single submitter familial adenomatous polyposis 1
  • p.Ala2795Thr Single submitter hereditary neoplastic syndrome
  • p.Ala2800Val Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala415Thr Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala41Thr Single submitter hereditary neoplastic syndrome
  • p.Ala426Ser Single submitter Desmoid disease, hereditary
  • p.Ala440Thr Single submitter hereditary neoplastic syndrome
  • p.Ala604Gly Single submitter classic or attenuated familial adenomatous polyposis
  • p.Ala61Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala647= Single submitter hereditary neoplastic syndrome
  • p.Ala697Val Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala735= Single submitter APC-Associated Polyposis Disorders
  • p.Ala735Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala740Pro Single submitter classic or attenuated familial adenomatous polyposis
  • p.Ala766Val Single submitter classic or attenuated familial adenomatous polyposis
  • p.Ala884Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala927Gly Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala952Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg1069Gly Single submitter Hereditary cancer
  • p.Arg106His Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg1105Gln Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg1105Pro Single submitter hereditary neoplastic syndrome
  • p.Arg1105Trp Single submitter familial adenomatous polyposis 1 ⚠
  • p.Arg1114Gln Single submitter APC-Associated Polyposis Disorders
  • p.Arg1146Cys Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Arg121Ile Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg1239= Single submitter familial adenomatous polyposis 1
  • p.Arg128= Single submitter familial adenomatous polyposis 1
  • p.Arg1314Lys Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Arg1450Gln Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Arg1589Cys Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg1589Gly Single submitter diffuse midline glioma, H3 K27-altered
  • p.Arg1589His Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Arg1640Trp Single submitter Desmoid disease, hereditary
  • p.Arg1676del Single submitter hereditary neoplastic syndrome
  • p.Arg1676Gly Single submitter colorectal cancer
  • p.Arg1687Gln Single submitter hereditary neoplastic syndrome
  • p.Arg1695Gly Single submitter familial adenomatous polyposis 1
  • p.Arg1742Cys Single submitter hereditary neoplastic syndrome
  • p.Arg1742His Single submitter APC-Associated Polyposis Disorders
  • p.Arg1788Cys Single submitter familial adenomatous polyposis 1
  • p.Arg1788His Single submitter APC-Associated Polyposis Disorders ⚠
  • p.Arg1876Met Single submitter Desmoid disease, hereditary
  • p.Arg1920Gly Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg213Gln Single submitter familial adenomatous polyposis 1
  • p.Arg216= Single submitter hereditary neoplastic syndrome
  • p.Arg2166Gln Single submitter Desmoid disease, hereditary
  • p.Arg216Gln Single submitter Hereditary cancer
  • p.Arg216Gly Single submitter Desmoid disease, hereditary
  • p.Arg2204Gly Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg2228Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg230Cys Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Arg230His Single submitter familial adenomatous polyposis 1
  • p.Arg2326Gln Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg232Gln Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg2431Lys Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg2453= Single submitter hereditary neoplastic syndrome
  • p.Arg2525Cys Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg2525His Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg2530Trp Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Arg2560Gln Single submitter hereditary neoplastic syndrome
  • p.Arg2566= Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg259= Single submitter APC-Associated Polyposis Disorders
  • p.Arg259Gln Single submitter familial adenomatous polyposis 1 ⚠
  • p.Arg259Trp Single submitter familial adenomatous polyposis 1
  • p.Arg2673Gly Single submitter hereditary neoplastic syndrome
  • p.Arg2714fs Single submitter familial adenomatous polyposis 1 ⚠
  • p.Arg2714His Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Arg2721His Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Arg2759His Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg2759Leu Single submitter hereditary neoplastic syndrome
  • p.Arg2801Gln Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg2816Gln Single submitter hereditary neoplastic syndrome
  • p.Arg283Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg374= Single submitter hereditary neoplastic syndrome
  • p.Arg374Gln Single submitter Desmoid disease, hereditary
  • p.Arg380Gln Single submitter hereditary neoplastic syndrome
  • p.Arg414His Single submitter hereditary neoplastic syndrome
  • p.Arg45Cys Single submitter familial adenomatous polyposis 1
  • p.Arg499Gly Single submitter hepatocellular carcinoma
  • p.Arg527Thr Single submitter Hereditary cancer
  • p.Arg564Gln Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg71His Single submitter colorectal cancer ⚠
  • p.Arg805Gln Single submitter familial adenomatous polyposis 1
  • p.Arg845Cys Single submitter hereditary neoplastic syndrome
  • p.Arg845His Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg854Gly Single submitter hereditary neoplastic syndrome
  • p.Arg856Cys Single submitter familial adenomatous polyposis 1
  • p.Arg876Gln Single submitter classic or attenuated familial adenomatous polyposis
  • p.Arg88Gln Single submitter hereditary neoplastic syndrome
  • p.Arg88Trp Single submitter hereditary neoplastic syndrome
  • p.Arg945Ile Single submitter hereditary neoplastic syndrome
  • p.Arg94Ser Single submitter ovarian cancer
  • p.Arg99= Single submitter familial adenomatous polyposis 1
  • p.Arg99Gln Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asn1070= Single submitter familial adenomatous polyposis 1
  • p.Asn1108Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn1142Lys Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asn1142Ser Single submitter hereditary neoplastic syndrome
  • p.Asn1142Thr Single submitter familial adenomatous polyposis 1
  • p.Asn1255= Single submitter familial adenomatous polyposis 1
  • p.Asn1290Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn1531His Single submitter hereditary neoplastic syndrome
  • p.Asn1533Asp Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Asn1716Ser Single submitter familial adenomatous polyposis 1 ⚠
  • p.Asn1761Ser Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Asn1761Thr Single submitter Desmoid disease, hereditary ⚠
  • p.Asn177= Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asn1798Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn1808= Single submitter familial adenomatous polyposis 1
  • p.Asn1808Asp Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Asn1808del Single submitter hereditary neoplastic syndrome
  • p.Asn1829Ser Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Asn1903Ser Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Asn1908Ser Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Asn1919Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn1980Ser Single submitter hereditary neoplastic syndrome
  • p.Asn1984= Single submitter APC-Associated Polyposis Disorders
  • p.Asn20= Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asn2220Asp Single submitter hereditary neoplastic syndrome
  • p.Asn2542Ser Single submitter familial adenomatous polyposis 1
  • p.Asn2593= Single submitter hereditary neoplastic syndrome
  • p.Asn2593Ser Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Asn2624Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn2691Asp Single submitter familial adenomatous polyposis 1 ⚠
  • p.Asn2743Ser Single submitter familial adenomatous polyposis 1 ⚠
  • p.Asn276Ser Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Asn2785His Single submitter familial adenomatous polyposis 1
  • p.Asn2785Ile Single submitter familial adenomatous polyposis 1 ⚠
  • p.Asn2810Ser Single submitter APC associated polyposis ⚠
  • p.Asn2811Ter Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn32Ser Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asn372Asp Single submitter hereditary neoplastic syndrome
  • p.Asn660Ser Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Asn741= Single submitter APC-Associated Polyposis Disorders
  • p.Asn741Ser Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Asn804Ser Single submitter familial adenomatous polyposis 1 ⚠
  • p.Asn813Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn815Thr Single submitter APC-Associated Polyposis Disorders ⚠
  • p.Asp1003Asn Single submitter familial adenomatous polyposis 1
  • p.Asp1016Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp1058Gly Single submitter APC-Associated Polyposis Disorders
  • p.Asp1084Val Single submitter familial adenomatous polyposis 1
  • p.Asp1484His Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asp149Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp149His Single submitter hereditary neoplastic syndrome
  • p.Asp1512Asn Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asp1570Gly Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asp1571del Single submitter hereditary neoplastic syndrome
  • p.Asp1698Val Single submitter hereditary neoplastic syndrome
  • p.Asp1714Asn Single submitter familial adenomatous polyposis 1
  • p.Asp1748= Single submitter familial adenomatous polyposis 1
  • p.Asp1870Asn Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asp1871Tyr Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asp1994Val Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asp2033Glu Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asp2036Asn Single submitter familial adenomatous polyposis 1
  • p.Asp2079Ala Single submitter hereditary neoplastic syndrome
  • p.Asp2082Gly Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asp2095= Single submitter familial adenomatous polyposis 1
  • p.Asp2306Glu Single submitter familial adenomatous polyposis 1
  • p.Asp2490Asn Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asp256Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp2588Glu Single submitter familial adenomatous polyposis 1
  • p.Asp2821Gly Single submitter hepatocellular carcinoma ⚠
  • p.Asp285Gly Single submitter hereditary neoplastic syndrome
  • p.Asp366Asn Single submitter hereditary neoplastic syndrome
  • p.Asp605= Single submitter familial adenomatous polyposis 1
  • p.Asp7= Single submitter hereditary neoplastic syndrome
  • p.Asp808del Single submitter hereditary neoplastic syndrome
  • p.Asp849= Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asp849Asn Single submitter classic or attenuated familial adenomatous polyposis
  • p.Asp989Gly Single submitter familial adenomatous polyposis 1
  • p.Cys110= Single submitter hereditary neoplastic syndrome
  • p.Cys1578Arg Single submitter classic or attenuated familial adenomatous polyposis ⚠
  • p.Cys1727Arg Single submitter classic or attenuated familial adenomatous polyposis ⚠

Benign 287

  • c.1549-13A>T Expert panel familial adenomatous polyposis 1
  • c.423-4del Expert panel familial adenomatous polyposis 1
  • p.Ala1474Thr Expert panel familial adenomatous polyposis 1
  • p.Ala2122dup Expert panel familial adenomatous polyposis 1
  • p.Ala239Pro Expert panel familial adenomatous polyposis 1
  • p.Arg332Gln Expert panel familial adenomatous polyposis 1
  • p.Arg414Cys Expert panel familial adenomatous polyposis 1
  • p.Arg99Trp Expert panel familial adenomatous polyposis 1
  • p.Glu582= Expert panel familial adenomatous polyposis 1
  • p.Leu826Val Expert panel familial adenomatous polyposis 1
  • p.Pro1467Ser Expert panel familial adenomatous polyposis 1
  • p.Ser2621Cys Expert panel familial adenomatous polyposis 1
  • p.Tyr486= Expert panel familial adenomatous polyposis 1
  • p.Val1822Asp Expert panel familial adenomatous polyposis 1
  • c.1312+27G>A Multiple submitters
  • c.136-53T>C Multiple submitters familial adenomatous polyposis 1
  • c.1408+743G>A Multiple submitters familial colorectal cancer
  • c.1408+792A>T Multiple submitters familial adenomatous polyposis 1
  • c.1958+8T>C Multiple submitters APC-Associated Polyposis Disorders
  • c.645+32C>T Multiple submitters hereditary neoplastic syndrome
  • c.730-29A>T Multiple submitters familial adenomatous polyposis 1
  • c.-133C>G Multiple submitters familial adenomatous polyposis 1
  • c.*248A>G Multiple submitters APC-Associated Polyposis Disorders
  • c.*86C>A Multiple submitters APC-Associated Polyposis Disorders
  • p.Gln1244= Multiple submitters APC-Associated Polyposis Disorders
  • p.Glu565= Multiple submitters hereditary neoplastic syndrome
  • p.Gly42Asp Multiple submitters familial adenomatous polyposis 1
  • p.Lys1915Asn Multiple submitters hereditary neoplastic syndrome
  • p.Pro1960= Multiple submitters APC-Associated Polyposis Disorders
  • c.136-230C>A Single submitter familial colorectal cancer
  • c.1408+1061A>T Single submitter
  • c.1408+12dup Single submitter familial adenomatous polyposis 1
  • c.1409-34_1409-11dup Single submitter familial adenomatous polyposis 1
  • c.1548+10del Single submitter familial adenomatous polyposis 1
  • c.1548+297dup Single submitter
  • c.1549-30_1549-27del Single submitter familial adenomatous polyposis 1
  • c.1627-22_1627-18del Single submitter familial adenomatous polyposis 1
  • c.1627-315C>T Single submitter familial colorectal cancer
  • c.1627-382del Single submitter
  • c.165+16G>C Single submitter familial adenomatous polyposis 1
  • c.165+28891G>C Single submitter
  • c.166-28922G>A Single submitter
  • c.1743+13del Single submitter familial adenomatous polyposis 1
  • c.1743+193G>A Single submitter familial colorectal cancer
  • c.1744-158A>G Single submitter
  • c.1744-290G>A Single submitter familial colorectal cancer
  • c.1744-687_1744-686del Single submitter
  • c.1958+11A>T Single submitter familial adenomatous polyposis 1
  • c.1958+126G>T Single submitter familial adenomatous polyposis 1
  • c.1958+21del Single submitter familial adenomatous polyposis 1
  • c.1958+22A>C Single submitter familial adenomatous polyposis 1
  • c.1958+22A>G Single submitter familial adenomatous polyposis 1
  • c.1958+235A>G Single submitter familial colorectal cancer
  • c.1958+23C>T Single submitter familial adenomatous polyposis 1
  • c.1958+24T>C Single submitter familial adenomatous polyposis 1
  • c.1958+25T>A Single submitter familial adenomatous polyposis 1
  • c.1958+26_1958+28delinsCT Single submitter familial adenomatous polyposis 1
  • c.1958+27del Single submitter familial adenomatous polyposis 1
  • c.1958+27dup Single submitter familial adenomatous polyposis 1
  • c.1958+27T>G Single submitter familial adenomatous polyposis 1
  • c.1958+29_1958+30del Single submitter familial adenomatous polyposis 1
  • c.1958+29A>C Single submitter familial adenomatous polyposis 1
  • c.1958+31G>A Single submitter familial adenomatous polyposis 1
  • c.1958+34C>T Single submitter familial adenomatous polyposis 1
  • c.1958+35A>G Single submitter familial adenomatous polyposis 1
  • c.1958+36G>T Single submitter familial adenomatous polyposis 1
  • c.1958+42A>G Single submitter familial adenomatous polyposis 1
  • c.1958+43T>C Single submitter familial adenomatous polyposis 1
  • c.1958+44A>G Single submitter familial adenomatous polyposis 1
  • c.1958+54A>C Single submitter
  • c.1959-143_1959-140dup Single submitter
  • c.220+22del Single submitter familial adenomatous polyposis 1
  • c.221-27A>C Single submitter
  • c.423-17insT Single submitter hereditary neoplastic syndrome
  • c.423-256G>A Single submitter familial colorectal cancer
  • c.532-1111dup Single submitter
  • c.532-18dup Single submitter familial adenomatous polyposis 1
  • c.532-744G>T Single submitter
  • c.645+129A>C Single submitter familial colorectal cancer
  • c.645+173A>G Single submitter familial colorectal cancer
  • c.645+61C>T Single submitter familial adenomatous polyposis 1
  • c.646-58_646-16dup Single submitter familial adenomatous polyposis 1
  • c.646-8del Single submitter familial adenomatous polyposis 1
  • c.729+88T>C Single submitter familial colorectal cancer
  • c.834+263dup Single submitter
  • c.834+269C>A Single submitter
  • c.933+1059G>T Single submitter
  • c.933+261G>T Single submitter
  • c.933+916T>G Single submitter familial colorectal cancer
  • c.934-111dup Single submitter
  • c.934-132del Single submitter
  • c.934-132G>T Single submitter familial colorectal cancer
  • c.934-92G>C Single submitter
  • c.-124C>G Single submitter familial adenomatous polyposis 1
  • c.-131G>A Single submitter familial adenomatous polyposis 1
  • c.-133_-132delinsGT Single submitter familial adenomatous polyposis 1
  • c.-167dup Single submitter familial adenomatous polyposis 1
  • c.-18-13T>G Single submitter
  • c.-19+647A>G Single submitter familial colorectal cancer
  • c.-19+734C>T Single submitter familial colorectal cancer
  • c.-30712G>A Single submitter
  • c.-94C>T Single submitter familial adenomatous polyposis 1
  • c.*1050T>C Single submitter APC-Associated Polyposis Disorders
  • c.*1098T>C Single submitter APC-Associated Polyposis Disorders
  • c.*10A>C Single submitter familial adenomatous polyposis 1
  • c.*1164G>A Single submitter APC-Associated Polyposis Disorders
  • c.*1203A>C Single submitter APC-Associated Polyposis Disorders
  • c.*1460C>T Single submitter APC-Associated Polyposis Disorders
  • c.*1556C>G Single submitter APC-Associated Polyposis Disorders
  • c.*1753G>A Single submitter APC-Associated Polyposis Disorders
  • c.*1918G>C Single submitter APC-Associated Polyposis Disorders
  • c.*2005T>G Single submitter APC-Associated Polyposis Disorders
  • c.*266C>A Single submitter APC-Associated Polyposis Disorders
  • c.*434C>T Single submitter APC-Associated Polyposis Disorders
  • c.*655G>T Single submitter APC-Associated Polyposis Disorders
  • c.*7G>C Single submitter familial adenomatous polyposis 1
  • c.*9A>C Single submitter familial adenomatous polyposis 1
  • p.Ala1296= Single submitter familial adenomatous polyposis 1
  • p.Ala1446= Single submitter familial adenomatous polyposis 1
  • p.Ala1457= Single submitter familial adenomatous polyposis 1
  • p.Ala1731= Single submitter familial adenomatous polyposis 1
  • p.Ala1801= Single submitter familial adenomatous polyposis 1
  • p.Ala2008= Single submitter familial adenomatous polyposis 1
  • p.Ala2118= Single submitter familial adenomatous polyposis 1
  • p.Ala2219= Single submitter familial adenomatous polyposis 1
  • p.Ala2274= Single submitter familial adenomatous polyposis 1
  • p.Ala2460= Single submitter familial adenomatous polyposis 1
  • p.Ala272= Single submitter familial adenomatous polyposis 1
  • p.Ala383= Single submitter familial adenomatous polyposis 1
  • p.Ala415= Single submitter familial adenomatous polyposis 1
  • p.Ala928= Single submitter familial adenomatous polyposis 1
  • p.Arg1158= Single submitter familial adenomatous polyposis 1
  • p.Arg121= Single submitter familial adenomatous polyposis 1
  • p.Arg1788= Single submitter familial adenomatous polyposis 1
  • p.Arg2055= Single submitter familial adenomatous polyposis 1
  • p.Arg232= Single submitter familial adenomatous polyposis 1
  • p.Arg2714= Single submitter familial adenomatous polyposis 1
  • p.Arg303= Single submitter familial adenomatous polyposis 1
  • p.Arg733= Single submitter familial adenomatous polyposis 1
  • p.Arg945= Single submitter familial adenomatous polyposis 1
  • p.Asn1108= Single submitter familial adenomatous polyposis 1
  • p.Asn1118= Single submitter familial adenomatous polyposis 1
  • p.Asn2678= Single submitter familial adenomatous polyposis 1
  • p.Asn2743= Single submitter familial adenomatous polyposis 1
  • p.Asn2744= Single submitter familial adenomatous polyposis 1
  • p.Asn2752Thr Single submitter familial adenomatous polyposis 1
  • p.Asn2785= Single submitter familial adenomatous polyposis 1
  • p.Asn436= Single submitter familial adenomatous polyposis 1
  • p.Asn467= Single submitter familial adenomatous polyposis 1
  • p.Asn659= Single submitter familial adenomatous polyposis 1
  • p.Asp1137= Single submitter familial adenomatous polyposis 1
  • p.Asp1186= Single submitter familial adenomatous polyposis 1
  • p.Asp1285= Single submitter familial adenomatous polyposis 1
  • p.Asp1519= Single submitter familial adenomatous polyposis 1
  • p.Asp1571= Single submitter familial adenomatous polyposis 1
  • p.Asp1722= Single submitter familial adenomatous polyposis 1
  • p.Asp1948= Single submitter familial adenomatous polyposis 1
  • p.Asp694= Single submitter familial adenomatous polyposis 1
  • p.Cys1249Ser Single submitter ovarian cancer
  • p.Gln1191= Single submitter familial adenomatous polyposis 1
  • p.Gln1230= Single submitter familial adenomatous polyposis 1
  • p.Gln1242= Single submitter familial adenomatous polyposis 1
  • p.Gln1529= Single submitter familial adenomatous polyposis 1
  • p.Gln1752= Single submitter familial adenomatous polyposis 1
  • p.Gln1996= Single submitter familial adenomatous polyposis 1
  • p.Glu1057= Single submitter familial adenomatous polyposis 1
  • p.Glu1059= Single submitter familial adenomatous polyposis 1
  • p.Glu1209= Single submitter familial adenomatous polyposis 1
  • p.Glu1379= Single submitter familial adenomatous polyposis 1
  • p.Glu151= Single submitter familial adenomatous polyposis 1
  • p.Glu1544= Single submitter familial adenomatous polyposis 1
  • p.Glu1554= Single submitter familial adenomatous polyposis 1
  • p.Glu1577= Single submitter familial adenomatous polyposis 1
  • p.Glu190= Single submitter familial adenomatous polyposis 1
  • p.Glu201= Single submitter familial adenomatous polyposis 1
  • p.Glu2061_Lys2062= Single submitter familial adenomatous polyposis 1
  • p.Glu2619= Single submitter familial adenomatous polyposis 1
  • p.Glu2737= Single submitter familial adenomatous polyposis 1
  • p.Glu484= Single submitter familial adenomatous polyposis 1
  • p.Gly1534= Single submitter familial adenomatous polyposis 1
  • p.Gly2332= Single submitter familial adenomatous polyposis 1
  • p.Gly2503= Single submitter familial adenomatous polyposis 1
  • p.Gly2735= Single submitter familial adenomatous polyposis 1
  • p.Gly2741= Single submitter familial adenomatous polyposis 1
  • p.Gly371= Single submitter familial adenomatous polyposis 1
  • p.Gly400= Single submitter familial adenomatous polyposis 1
  • p.Gly567= Single submitter familial adenomatous polyposis 1
  • p.Gly682= Single submitter familial adenomatous polyposis 1
  • p.Gly817= Single submitter familial adenomatous polyposis 1
  • p.Gly907= Single submitter familial adenomatous polyposis 1
  • p.Ile2071= Single submitter familial adenomatous polyposis 1
  • p.Ile2167= Single submitter familial adenomatous polyposis 1
  • p.Ile655= Single submitter familial adenomatous polyposis 1
  • p.Leu1004= Single submitter familial adenomatous polyposis 1
  • p.Leu1231= Single submitter familial adenomatous polyposis 1
  • p.Leu1482= Single submitter familial adenomatous polyposis 1
  • p.Leu1522= Single submitter familial adenomatous polyposis 1
  • p.Leu1724= Single submitter familial adenomatous polyposis 1
  • p.Leu2124= Single submitter familial adenomatous polyposis 1
  • p.Leu2138= Single submitter familial adenomatous polyposis 1
  • p.Leu369= Single submitter familial adenomatous polyposis 1
  • p.Leu409= Single submitter familial adenomatous polyposis 1
  • p.Leu456= Single submitter familial adenomatous polyposis 1
  • p.Leu572= Single submitter familial adenomatous polyposis 1
  • p.Leu656= Single submitter familial adenomatous polyposis 1
  • p.Leu674= Single submitter familial adenomatous polyposis 1
  • p.Leu687= Single submitter familial adenomatous polyposis 1
  • p.Leu710= Single submitter familial adenomatous polyposis 1
  • p.Leu752= Single submitter familial adenomatous polyposis 1
  • p.Lys1165= Single submitter familial adenomatous polyposis 1
  • p.Lys1885= Single submitter familial adenomatous polyposis 1
  • p.Lys1909= Single submitter familial adenomatous polyposis 1
  • p.Lys2254= Single submitter familial adenomatous polyposis 1
  • p.Lys2386= Single submitter familial adenomatous polyposis 1
  • p.Lys2590= Single submitter familial adenomatous polyposis 1
  • p.Lys2815= Single submitter familial adenomatous polyposis 1
  • p.Phe1963= Single submitter familial adenomatous polyposis 1
  • p.Pro1453= Single submitter familial adenomatous polyposis 1
  • p.Pro1514= Single submitter familial adenomatous polyposis 1
  • p.Pro1542= Single submitter familial adenomatous polyposis 1
  • p.Pro1691= Single submitter familial adenomatous polyposis 1
  • p.Pro1740= Single submitter familial adenomatous polyposis 1
  • p.Pro1760= Single submitter familial adenomatous polyposis 1
  • p.Pro1780= Single submitter familial adenomatous polyposis 1
  • p.Pro1986= Single submitter familial adenomatous polyposis 1
  • p.Pro2152= Single submitter familial adenomatous polyposis 1
  • p.Pro2234= Single submitter familial adenomatous polyposis 1
  • p.Pro2482= Single submitter familial adenomatous polyposis 1
  • p.Pro2692= Single submitter familial adenomatous polyposis 1
  • p.Pro2747= Single submitter familial adenomatous polyposis 1
  • p.Pro2788= Single submitter familial adenomatous polyposis 1
  • p.Pro2790= Single submitter familial adenomatous polyposis 1
  • p.Pro439= Single submitter familial adenomatous polyposis 1
  • p.Pro750= Single submitter familial adenomatous polyposis 1
  • p.Pro981= Single submitter familial adenomatous polyposis 1
  • p.Ser1279= Single submitter familial adenomatous polyposis 1
  • p.Ser1504= Single submitter familial adenomatous polyposis 1
  • p.Ser1545= Single submitter familial adenomatous polyposis 1
  • p.Ser1864= Single submitter familial adenomatous polyposis 1
  • p.Ser1896= Single submitter familial adenomatous polyposis 1
  • p.Ser1967= Single submitter familial adenomatous polyposis 1
  • p.Ser2029= Single submitter familial adenomatous polyposis 1
  • p.Ser21= Single submitter familial adenomatous polyposis 1
  • p.Ser2113= Single submitter familial adenomatous polyposis 1
  • p.Ser2130= Single submitter familial adenomatous polyposis 1
  • p.Ser2290= Single submitter familial adenomatous polyposis 1
  • p.Ser2310= Single submitter familial adenomatous polyposis 1
  • p.Ser2349= Single submitter familial adenomatous polyposis 1
  • p.Ser2466= Single submitter familial adenomatous polyposis 1
  • p.Ser2596= Single submitter familial adenomatous polyposis 1
  • p.Ser2625= Single submitter familial adenomatous polyposis 1
  • p.Ser2674= Single submitter familial adenomatous polyposis 1
  • p.Ser2835= Single submitter familial adenomatous polyposis 1
  • p.Ser2842= Single submitter familial adenomatous polyposis 1
  • p.Ser293= Single submitter familial adenomatous polyposis 1
  • p.Ser31= Single submitter familial adenomatous polyposis 1
  • p.Ser457= Single submitter familial adenomatous polyposis 1
  • p.Ser596= Single submitter familial adenomatous polyposis 1
  • p.Ser634= Single submitter familial adenomatous polyposis 1
  • p.Ser678= Single submitter familial adenomatous polyposis 1
  • p.Ser780= Single submitter familial adenomatous polyposis 1
  • p.Ser79= Single submitter familial adenomatous polyposis 1
  • p.Ser794= Single submitter familial adenomatous polyposis 1
  • p.Ser905= Single submitter familial adenomatous polyposis 1
  • p.Ser960= Single submitter familial adenomatous polyposis 1
  • p.Thr1487= Single submitter familial adenomatous polyposis 1
  • p.Thr1692= Single submitter familial adenomatous polyposis 1
  • p.Thr1697= Single submitter familial adenomatous polyposis 1
  • p.Thr175= Single submitter familial adenomatous polyposis 1
  • p.Thr2611= Single submitter familial adenomatous polyposis 1
  • p.Thr2676= Single submitter familial adenomatous polyposis 1
  • p.Thr2679= Single submitter familial adenomatous polyposis 1
  • p.Thr282= Single submitter familial adenomatous polyposis 1
  • p.Thr506= Single submitter familial adenomatous polyposis 1
  • p.Thr675= Single submitter familial adenomatous polyposis 1
  • p.Thr867= Single submitter familial adenomatous polyposis 1
  • p.Tyr1135= Single submitter familial adenomatous polyposis 1
  • p.Tyr2838= Single submitter familial adenomatous polyposis 1
  • p.Val113= Single submitter familial adenomatous polyposis 1
  • p.Val1326= Single submitter familial adenomatous polyposis 1
  • p.Val1520= Single submitter familial adenomatous polyposis 1
  • p.Val1750Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Val2194= Single submitter familial adenomatous polyposis 1
  • p.Val2757= Single submitter familial adenomatous polyposis 1
  • p.Val2843= Single submitter familial adenomatous polyposis 1
  • p.Val47= Single submitter familial adenomatous polyposis 1
  • p.Val566= Single submitter familial adenomatous polyposis 1

Benign/Likely benign 1121

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

  • c.1313-10del Multiple submitters familial adenomatous polyposis 1
  • c.1313-9A>G Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.1408+20del Multiple submitters hereditary neoplastic syndrome
  • c.1409-26T>G Multiple submitters
  • c.1548+10_1548+11insCTTGT Multiple submitters familial adenomatous polyposis 1
  • c.1548+17T>C Multiple submitters hereditary neoplastic syndrome
  • c.1549-14T>C Multiple submitters familial adenomatous polyposis 1
  • c.1549-16T>C Multiple submitters hereditary neoplastic syndrome
  • c.165+29214A>G Multiple submitters
  • c.166-28452G>C Multiple submitters hereditary neoplastic syndrome
  • c.166-28546T>C Multiple submitters familial adenomatous polyposis 1
  • c.166-29015A>T Multiple submitters familial adenomatous polyposis 1
  • c.166-29134C>T Multiple submitters
  • c.1958+10G>T Multiple submitters hereditary neoplastic syndrome
  • c.1958+11_1958+12del Multiple submitters familial adenomatous polyposis 1
  • c.1958+17A>G Multiple submitters hereditary neoplastic syndrome
  • c.1958+23_1958+28del Multiple submitters familial adenomatous polyposis 1
  • c.1958+33A>G Multiple submitters familial adenomatous polyposis 1
  • c.1958+5A>G Multiple submitters hereditary neoplastic syndrome
  • c.423-16A>T Multiple submitters hereditary neoplastic syndrome
  • c.423-17dup Multiple submitters familial adenomatous polyposis 1
  • c.423-17T>A Multiple submitters hereditary neoplastic syndrome
  • c.423-4dup Multiple submitters hereditary neoplastic syndrome
  • c.532-32T>C Multiple submitters
  • c.645+50A>G Multiple submitters
  • c.646-20G>A Multiple submitters hereditary neoplastic syndrome
  • c.729+23T>C Multiple submitters familial adenomatous polyposis 1
  • c.730-10A>G Multiple submitters hereditary neoplastic syndrome
  • c.933+30A>G Multiple submitters familial adenomatous polyposis 1
  • c.934-17del Multiple submitters familial adenomatous polyposis 1
  • c.-109C>G Multiple submitters familial adenomatous polyposis 1
  • c.-126dup Multiple submitters familial adenomatous polyposis 1
  • c.-131G>T Multiple submitters familial adenomatous polyposis 1
  • c.-132G>T Multiple submitters familial adenomatous polyposis 1
  • c.-134_-133insG Multiple submitters familial adenomatous polyposis 1
  • c.-134_-133insGG Multiple submitters familial adenomatous polyposis 1
  • c.-152C>T Multiple submitters familial adenomatous polyposis 1
  • c.-16C>T Multiple submitters hereditary neoplastic syndrome
  • c.-181C>T Multiple submitters familial adenomatous polyposis 1
  • c.-19+512G>A Multiple submitters
  • c.-31T>G Multiple submitters familial adenomatous polyposis 1
  • c.-416A>G Multiple submitters
  • p.Ala1002= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala1005= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1050= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1184= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala1236= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1246= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1247Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala1325= Multiple submitters familial adenomatous polyposis 1
  • p.Ala1347= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1351= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala1358= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1366= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1446Thr Multiple submitters Desmoid disease, hereditary
  • p.Ala1475= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala1492= Multiple submitters hereditary neoplastic syndrome
  • p.Ala15= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1508= Multiple submitters familial adenomatous polyposis 1
  • p.Ala1553= Multiple submitters familial adenomatous polyposis 1
  • p.Ala1582= Multiple submitters familial adenomatous polyposis 1
  • p.Ala1595= Multiple submitters hereditary neoplastic syndrome
  • p.Ala160= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1654= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala1679= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1700= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1753= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1755= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1755_Ser1756= Multiple submitters familial adenomatous polyposis 1
  • p.Ala1759= Multiple submitters familial adenomatous polyposis 1
  • p.Ala1884= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1892= Multiple submitters familial adenomatous polyposis 1
  • p.Ala1912= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1946= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1955= Multiple submitters familial adenomatous polyposis 1
  • p.Ala2004= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2120= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2122= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala214= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2257= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2274Val Multiple submitters APC-Associated Polyposis Disorders
  • p.Ala2388= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2584= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2638= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2648= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2690Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala2702= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2795= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2800= Multiple submitters hereditary neoplastic syndrome
  • p.Ala289= Multiple submitters hereditary neoplastic syndrome
  • p.Ala381= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala385= Multiple submitters hereditary neoplastic syndrome
  • p.Ala386= Multiple submitters hereditary neoplastic syndrome
  • p.Ala426= Multiple submitters hereditary neoplastic syndrome
  • p.Ala44Thr Multiple submitters familial adenomatous polyposis 1
  • p.Ala531= Multiple submitters hereditary neoplastic syndrome
  • p.Ala59= Multiple submitters hereditary neoplastic syndrome
  • p.Ala608= Multiple submitters familial adenomatous polyposis 1
  • p.Ala61= Multiple submitters familial adenomatous polyposis 1
  • p.Ala612= Multiple submitters familial adenomatous polyposis 1
  • p.Ala614= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala680= Multiple submitters familial adenomatous polyposis 1
  • p.Ala697= Multiple submitters familial adenomatous polyposis 1
  • p.Ala719= Multiple submitters familial adenomatous polyposis 1
  • p.Ala724= Multiple submitters familial adenomatous polyposis 1
  • p.Ala735Val Multiple submitters Hereditary cancer
  • p.Ala759= Multiple submitters Desmoid disease, hereditary
  • p.Ala762= Multiple submitters familial adenomatous polyposis 1
  • p.Ala766= Multiple submitters hereditary neoplastic syndrome
  • p.Ala783= Multiple submitters familial adenomatous polyposis 1
  • p.Ala884= Multiple submitters hereditary neoplastic syndrome
  • p.Ala921= Multiple submitters hereditary neoplastic syndrome
  • p.Ala927= Multiple submitters hereditary neoplastic syndrome
  • p.Ala952= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1040= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1171Cys Multiple submitters Desmoid disease, hereditary
  • p.Arg1227= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Arg1273= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1314= Multiple submitters familial adenomatous polyposis 1
  • p.Arg1386= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1463= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1589= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1623= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1640= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1640Gln Multiple submitters hereditary neoplastic syndrome
  • p.Arg1676Thr Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Arg1803= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Arg1858= Multiple submitters familial adenomatous polyposis 1
  • p.Arg1876= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2126= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2226= Multiple submitters familial adenomatous polyposis 1
  • p.Arg2228= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2237= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Arg2301= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2311= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2347= Multiple submitters hereditary neoplastic syndrome
  • p.Arg244= Multiple submitters familial adenomatous polyposis 1
  • p.Arg2505= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2505Gln Multiple submitters hereditary neoplastic syndrome
  • p.Arg2521= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2530= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2543= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2549= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2549Cys Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Arg2560= Multiple submitters familial adenomatous polyposis 1
  • p.Arg2565= Multiple submitters familial adenomatous polyposis 1
  • p.Arg2613= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2660= Multiple submitters familial adenomatous polyposis 1
  • p.Arg2670= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Arg2721= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2759= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2791= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2816= Multiple submitters familial adenomatous polyposis 1
  • p.Arg2833= Multiple submitters hereditary neoplastic syndrome
  • p.Arg302= Multiple submitters hereditary neoplastic syndrome
  • p.Arg348= Multiple submitters hereditary neoplastic syndrome
  • p.Arg401= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Arg499= Multiple submitters familial adenomatous polyposis 1
  • p.Arg527= Multiple submitters familial adenomatous polyposis 1
  • p.Arg549= Multiple submitters hereditary neoplastic syndrome
  • p.Arg653= Multiple submitters APC-Associated Polyposis Disorders
  • p.Arg657= Multiple submitters hereditary neoplastic syndrome
  • p.Arg856= Multiple submitters hereditary neoplastic syndrome
  • p.Arg876= Multiple submitters hereditary neoplastic syndrome
  • p.Arg94= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1012= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1026= Multiple submitters familial adenomatous polyposis 1
  • p.Asn1046= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1118Asp Multiple submitters APC-Associated Polyposis Disorders
  • p.Asn1122= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1124= Multiple submitters familial adenomatous polyposis 1
  • p.Asn1167= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1217Thr Multiple submitters familial adenomatous polyposis 1
  • p.Asn1229= Multiple submitters hereditary neoplastic syndrome
  • p.Asn125= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1290= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1455= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1533= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1548= Multiple submitters familial adenomatous polyposis 1
  • p.Asn1622= Multiple submitters hereditary neoplastic syndrome
  • p.Asn164= Multiple submitters familial adenomatous polyposis 1
  • p.Asn1761= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1792= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1797= Multiple submitters familial adenomatous polyposis 1
  • p.Asn1800= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1824= Multiple submitters familial adenomatous polyposis 1
  • p.Asn1859= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1887= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1903= Multiple submitters familial adenomatous polyposis 1
  • p.Asn1919= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1980= Multiple submitters hereditary neoplastic syndrome
  • p.Asn2060= Multiple submitters familial adenomatous polyposis 1
  • p.Asn2067= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asn2162= Multiple submitters familial adenomatous polyposis 1
  • p.Asn2327= Multiple submitters hereditary neoplastic syndrome
  • p.Asn2340= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asn2387= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asn2405= Multiple submitters familial adenomatous polyposis 1
  • p.Asn2406= Multiple submitters familial adenomatous polyposis 1
  • p.Asn2408= Multiple submitters hereditary neoplastic syndrome
  • p.Asn248= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asn2542= Multiple submitters familial adenomatous polyposis 1
  • p.Asn2624= Multiple submitters familial adenomatous polyposis 1
  • p.Asn2667= Multiple submitters hereditary neoplastic syndrome
  • p.Asn2693= Multiple submitters hereditary neoplastic syndrome
  • p.Asn270= Multiple submitters hereditary neoplastic syndrome
  • p.Asn2700= Multiple submitters hereditary neoplastic syndrome
  • p.Asn2752= Multiple submitters hereditary neoplastic syndrome
  • p.Asn2787= Multiple submitters hereditary neoplastic syndrome
  • p.Asn2810= Multiple submitters hereditary neoplastic syndrome
  • p.Asn2811= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asn2812= Multiple submitters hereditary neoplastic syndrome
  • p.Asn363= Multiple submitters hereditary neoplastic syndrome
  • p.Asn389= Multiple submitters hereditary neoplastic syndrome
  • p.Asn602= Multiple submitters familial adenomatous polyposis 1
  • p.Asn627= Multiple submitters familial adenomatous polyposis 1
  • p.Asn641= Multiple submitters familial adenomatous polyposis 1
  • p.Asn660= Multiple submitters hereditary neoplastic syndrome
  • p.Asn691= Multiple submitters hereditary neoplastic syndrome
  • p.Asn709= Multiple submitters familial adenomatous polyposis 1
  • p.Asn732= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asn76= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asn775= Multiple submitters familial adenomatous polyposis 1
  • p.Asn809= Multiple submitters hereditary neoplastic syndrome
  • p.Asn813= Multiple submitters hereditary neoplastic syndrome
  • p.Asn815= Multiple submitters familial adenomatous polyposis 1
  • p.Asn818= Multiple submitters hereditary neoplastic syndrome
  • p.Asn827= Multiple submitters hereditary neoplastic syndrome
  • p.Asn862= Multiple submitters familial adenomatous polyposis 1
  • p.Asn862Lys Multiple submitters APC-Associated Polyposis Disorders
  • p.Asn920= Multiple submitters familial adenomatous polyposis 1
  • p.Asn936= Multiple submitters hereditary neoplastic syndrome
  • p.Asn944= Multiple submitters hereditary neoplastic syndrome
  • p.Asn961= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asn965= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1015= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1016= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1058= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1133= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1178= Multiple submitters familial adenomatous polyposis 1
  • p.Asp1266= Multiple submitters familial adenomatous polyposis 1
  • p.Asp1394= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1484= Multiple submitters familial adenomatous polyposis 1
  • p.Asp1486= Multiple submitters familial adenomatous polyposis 1
  • p.Asp1498= Multiple submitters hereditary neoplastic syndrome
  • p.Asp156= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1562= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asp1565= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1568= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1569= Multiple submitters familial adenomatous polyposis 1
  • p.Asp1570= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asp1636= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1659= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1688= Multiple submitters familial adenomatous polyposis 1
  • p.Asp170= Multiple submitters familial adenomatous polyposis 1
  • p.Asp1714= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1715= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1766= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1794= Multiple submitters familial adenomatous polyposis 1
  • p.Asp1807= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1832= Multiple submitters familial adenomatous polyposis 1
  • p.Asp1841= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1868= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1871= Multiple submitters familial adenomatous polyposis 1
  • p.Asp1873= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asp1939= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1974= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1976= Multiple submitters hereditary neoplastic syndrome
  • p.Asp2016= Multiple submitters familial adenomatous polyposis 1
  • p.Asp2033= Multiple submitters hereditary neoplastic syndrome
  • p.Asp2059= Multiple submitters hereditary neoplastic syndrome
  • p.Asp2082= Multiple submitters familial adenomatous polyposis 1
  • p.Asp209= Multiple submitters hereditary neoplastic syndrome
  • p.Asp2100= Multiple submitters hereditary neoplastic syndrome
  • p.Asp2133= Multiple submitters hereditary neoplastic syndrome
  • p.Asp227= Multiple submitters familial adenomatous polyposis 1
  • p.Asp2490= Multiple submitters hereditary neoplastic syndrome
  • p.Asp2519= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asp256= Multiple submitters familial adenomatous polyposis 1
  • p.Asp2656= Multiple submitters hereditary neoplastic syndrome
  • p.Asp2663= Multiple submitters familial adenomatous polyposis 1
  • p.Asp2684= Multiple submitters hereditary neoplastic syndrome
  • p.Asp2732= Multiple submitters familial adenomatous polyposis 1
  • p.Asp2821= Multiple submitters hereditary neoplastic syndrome
  • p.Asp326= Multiple submitters familial adenomatous polyposis 1
  • p.Asp328= Multiple submitters familial adenomatous polyposis 1
  • p.Asp396= Multiple submitters hereditary neoplastic syndrome
  • p.Asp512= Multiple submitters familial adenomatous polyposis 1
  • p.Asp539= Multiple submitters familial adenomatous polyposis 1
  • p.Asp556= Multiple submitters hereditary neoplastic syndrome
  • p.Asp57= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asp700= Multiple submitters familial adenomatous polyposis 1
  • p.Asp774= Multiple submitters APC-Associated Polyposis Disorders
  • p.Asp777= Multiple submitters hereditary neoplastic syndrome
  • p.Asp802= Multiple submitters hereditary neoplastic syndrome
  • p.Asp812= Multiple submitters familial adenomatous polyposis 1
  • p.Asp971= Multiple submitters familial adenomatous polyposis 1
  • p.Cys1274= Multiple submitters familial adenomatous polyposis 1
  • p.Cys1410= Multiple submitters familial adenomatous polyposis 1
  • p.Cys1727= Multiple submitters familial adenomatous polyposis 1

Likely benign 1584

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

  • c.645+9C>A Expert panel familial adenomatous polyposis 1
  • p.Ala41= Expert panel familial adenomatous polyposis 1
  • p.Asp1636Tyr Expert panel familial adenomatous polyposis 1
  • p.Glu140Asp Expert panel familial adenomatous polyposis 1
  • p.Ser79Gly Expert panel familial adenomatous polyposis 1
  • p.Thr2813Lys Expert panel familial adenomatous polyposis 1
  • p.Thr496Ile Expert panel familial adenomatous polyposis 1
  • c.1312+10C>A Multiple submitters familial adenomatous polyposis 1
  • c.1312+14A>G Multiple submitters familial adenomatous polyposis 1
  • c.1312+16T>A Multiple submitters hereditary neoplastic syndrome
  • c.1312+8C>T Multiple submitters familial adenomatous polyposis 1
  • c.1313-10T>C Multiple submitters familial adenomatous polyposis 1
  • c.1313-13T>C Multiple submitters hereditary neoplastic syndrome
  • c.1313-14del Multiple submitters hereditary neoplastic syndrome
  • c.1313-15G>A Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.1313-15G>T Multiple submitters hereditary neoplastic syndrome
  • c.1313-17T>C Multiple submitters familial adenomatous polyposis 1
  • c.1313-18G>A Multiple submitters hereditary neoplastic syndrome
  • c.1313-19T>C Multiple submitters familial adenomatous polyposis 1
  • c.1313-20A>C Multiple submitters familial adenomatous polyposis 1
  • c.1313-20A>G Multiple submitters familial adenomatous polyposis 1
  • c.135+12G>T Multiple submitters hereditary neoplastic syndrome
  • c.135+13_135+14del Multiple submitters hereditary neoplastic syndrome
  • c.135+6A>G Multiple submitters familial adenomatous polyposis 1
  • c.135+7A>G Multiple submitters familial adenomatous polyposis 1
  • c.136-12T>C Multiple submitters familial adenomatous polyposis 1
  • c.136-13T>G Multiple submitters hereditary neoplastic syndrome
  • c.136-14G>A Multiple submitters familial adenomatous polyposis 1
  • c.136-16G>A Multiple submitters familial adenomatous polyposis 1
  • c.136-16G>T Multiple submitters familial adenomatous polyposis 1
  • c.136-17T>C Multiple submitters familial adenomatous polyposis 1
  • c.136-18T>C Multiple submitters familial adenomatous polyposis 1
  • c.136-19A>G Multiple submitters familial adenomatous polyposis 1
  • c.136-20T>C Multiple submitters familial adenomatous polyposis 1
  • c.136-6T>C Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.136-7T>C Multiple submitters familial adenomatous polyposis 1
  • c.136-8T>C Multiple submitters familial adenomatous polyposis 1
  • c.1408+14del Multiple submitters familial adenomatous polyposis 1
  • c.1408+17T>C Multiple submitters hereditary neoplastic syndrome
  • c.1408+7C>T Multiple submitters familial adenomatous polyposis 1
  • c.1408+8A>G Multiple submitters familial adenomatous polyposis 1
  • c.1408+8A>T Multiple submitters familial adenomatous polyposis 1
  • c.1409-13C>G Multiple submitters familial adenomatous polyposis 1
  • c.1409-13C>T Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.1409-16G>A Multiple submitters hereditary neoplastic syndrome
  • c.1409-16G>T Multiple submitters familial adenomatous polyposis 1
  • c.1409-18T>C Multiple submitters familial adenomatous polyposis 1
  • c.1409-19C>G Multiple submitters familial adenomatous polyposis 1
  • c.1409-20T>C Multiple submitters familial adenomatous polyposis 1
  • c.1409-5del Multiple submitters familial adenomatous polyposis 1
  • c.1409-7A>G Multiple submitters familial adenomatous polyposis 1
  • c.1409-9T>A Multiple submitters familial adenomatous polyposis 1
  • c.1548+11A>G Multiple submitters familial adenomatous polyposis 1
  • c.1548+18G>A Multiple submitters familial adenomatous polyposis 1
  • c.1549-15_1549-10del Multiple submitters hereditary neoplastic syndrome
  • c.1549-15G>A Multiple submitters familial adenomatous polyposis 1
  • c.1549-17C>T Multiple submitters familial adenomatous polyposis 1
  • c.1549-20_1549-16del Multiple submitters familial adenomatous polyposis 1
  • c.1549-20A>C Multiple submitters hereditary neoplastic syndrome
  • c.1549-20A>G Multiple submitters familial adenomatous polyposis 1
  • c.1549-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.1549-4A>G Multiple submitters hereditary neoplastic syndrome
  • c.1549-9A>C Multiple submitters hereditary neoplastic syndrome
  • c.1626+18A>G Multiple submitters hereditary neoplastic syndrome
  • c.1626+19C>A Multiple submitters hereditary neoplastic syndrome
  • c.1626+19C>T Multiple submitters familial adenomatous polyposis 1
  • c.1626+6A>C Multiple submitters familial adenomatous polyposis 1
  • c.1626+8T>C Multiple submitters familial adenomatous polyposis 1
  • c.1626+8T>G Multiple submitters hereditary neoplastic syndrome
  • c.1627-10T>G Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.1627-15T>C Multiple submitters familial adenomatous polyposis 1
  • c.1627-16A>C Multiple submitters hereditary neoplastic syndrome
  • c.1627-17A>G Multiple submitters familial adenomatous polyposis 1
  • c.1627-19A>G Multiple submitters familial adenomatous polyposis 1
  • c.1627-4G>A Multiple submitters familial adenomatous polyposis 1
  • c.1627-4G>T Multiple submitters familial adenomatous polyposis 1
  • c.1627-93A>C Multiple submitters
  • c.1627-9A>G Multiple submitters familial adenomatous polyposis 1
  • c.166-28523C>T Multiple submitters
  • c.1743+15A>G Multiple submitters hereditary neoplastic syndrome
  • c.1743+17T>G Multiple submitters familial adenomatous polyposis 1
  • c.1743+18_1743+106del Multiple submitters familial adenomatous polyposis 1
  • c.1743+78A>G Multiple submitters
  • c.1744-10T>C Multiple submitters familial adenomatous polyposis 1
  • c.1744-15T>C Multiple submitters hereditary neoplastic syndrome
  • c.1744-19A>G Multiple submitters hereditary neoplastic syndrome
  • c.1744-20C>T Multiple submitters hereditary neoplastic syndrome
  • c.1744-28_1744-17del Multiple submitters familial adenomatous polyposis 1
  • c.1744-4C>T Multiple submitters familial adenomatous polyposis 1
  • c.1958+2TA[5] Multiple submitters familial adenomatous polyposis 1
  • c.1958+6T>C Multiple submitters hereditary neoplastic syndrome
  • c.1958+7A>G Multiple submitters hereditary neoplastic syndrome
  • c.1958+8_1958+10del Multiple submitters familial adenomatous polyposis 1
  • c.1959-12A>G Multiple submitters familial adenomatous polyposis 1
  • c.1959-14T>C Multiple submitters familial adenomatous polyposis 1
  • c.1959-15_1959-14del Multiple submitters familial adenomatous polyposis 1
  • c.1959-15T>C Multiple submitters familial adenomatous polyposis 1
  • c.1959-16C>T Multiple submitters familial adenomatous polyposis 1
  • c.1959-17T>C Multiple submitters hereditary neoplastic syndrome
  • c.1959-18C>G Multiple submitters familial adenomatous polyposis 1
  • c.1959-4T>C Multiple submitters hereditary neoplastic syndrome
  • c.1959-7A>T Multiple submitters familial adenomatous polyposis 1
  • c.220+10A>C Multiple submitters familial adenomatous polyposis 1
  • c.220+10A>T Multiple submitters hereditary neoplastic syndrome
  • c.220+124C>G Multiple submitters
  • c.220+16del Multiple submitters familial adenomatous polyposis 1
  • c.220+16G>C Multiple submitters familial adenomatous polyposis 1
  • c.220+16G>T Multiple submitters hereditary neoplastic syndrome
  • c.220+19T>C Multiple submitters familial adenomatous polyposis 1
  • c.221-11A>G Multiple submitters hereditary neoplastic syndrome
  • c.221-11A>T Multiple submitters familial adenomatous polyposis 1
  • c.221-16T>C Multiple submitters hereditary neoplastic syndrome
  • c.221-29G>C Multiple submitters familial adenomatous polyposis 1
  • c.422+10C>G Multiple submitters colorectal cancer
  • c.422+10C>T Multiple submitters familial adenomatous polyposis 1
  • c.422+16A>G Multiple submitters hereditary neoplastic syndrome
  • c.422+17T>C Multiple submitters familial adenomatous polyposis 1
  • c.422+19G>C Multiple submitters familial adenomatous polyposis 1
  • c.423-5_423-4del Multiple submitters hereditary neoplastic syndrome
  • c.423-5A>C Multiple submitters familial adenomatous polyposis 1
  • c.423-8A>T Multiple submitters familial adenomatous polyposis 1
  • c.423-9A>T Multiple submitters familial adenomatous polyposis 1
  • c.531+16G>A Multiple submitters hereditary neoplastic syndrome
  • c.532-10G>A Multiple submitters familial adenomatous polyposis 1
  • c.532-10G>T Multiple submitters hereditary neoplastic syndrome
  • c.532-13T>C Multiple submitters familial adenomatous polyposis 1
  • c.532-14_532-12del Multiple submitters familial adenomatous polyposis 1
  • c.532-14A>G Multiple submitters hereditary neoplastic syndrome
  • c.532-14A>T Multiple submitters familial adenomatous polyposis 1
  • c.532-17A>T Multiple submitters hereditary neoplastic syndrome
  • c.532-7G>C Multiple submitters hereditary neoplastic syndrome
  • c.532-7G>T Multiple submitters hereditary neoplastic syndrome
  • c.645+18A>G Multiple submitters familial adenomatous polyposis 1
  • c.645+8A>C Multiple submitters familial adenomatous polyposis 1
  • c.645+8A>T Multiple submitters hereditary neoplastic syndrome
  • c.646-12G>A Multiple submitters familial adenomatous polyposis 1
  • c.646-12G>T Multiple submitters hereditary neoplastic syndrome
  • c.646-14T>C Multiple submitters familial adenomatous polyposis 1
  • c.646-15C>A Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.646-18T>C Multiple submitters familial adenomatous polyposis 1
  • c.646-19del Multiple submitters familial adenomatous polyposis 1
  • c.646-19G>A Multiple submitters familial adenomatous polyposis 1
  • c.646-7A>G Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.646-9T>C Multiple submitters familial adenomatous polyposis 1
  • c.729+11T>G Multiple submitters hereditary neoplastic syndrome
  • c.729+14C>G Multiple submitters hereditary neoplastic syndrome
  • c.729+15T>C Multiple submitters familial adenomatous polyposis 1
  • c.729+8A>G Multiple submitters familial adenomatous polyposis 1
  • c.730-11C>T Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.730-12C>G Multiple submitters hereditary neoplastic syndrome
  • c.730-15A>G Multiple submitters familial adenomatous polyposis 1
  • c.730-19G>A Multiple submitters hereditary neoplastic syndrome
  • c.730-19G>T Multiple submitters hereditary neoplastic syndrome
  • c.730-22G>C Multiple submitters familial adenomatous polyposis 1
  • c.730-7_730-6dup Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.730-8C>T Multiple submitters familial adenomatous polyposis 1
  • c.834+17A>C Multiple submitters hereditary neoplastic syndrome
  • c.834+18T>C Multiple submitters hereditary neoplastic syndrome
  • c.834+20A>G Multiple submitters hereditary neoplastic syndrome
  • c.834+7A>G Multiple submitters familial adenomatous polyposis 1
  • c.834+8A>T Multiple submitters familial adenomatous polyposis 1
  • c.835-12C>T Multiple submitters familial adenomatous polyposis 1
  • c.835-13G>A Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.835-15G>A Multiple submitters familial adenomatous polyposis 1
  • c.835-16T>C Multiple submitters familial adenomatous polyposis 1
  • c.835-20A>C Multiple submitters hereditary neoplastic syndrome
  • c.835-20A>G Multiple submitters hereditary neoplastic syndrome
  • c.835-24A>T Multiple submitters familial adenomatous polyposis 1
  • c.835-8A>C Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.835-9A>G Multiple submitters familial adenomatous polyposis 1
  • c.933+10G>C Multiple submitters familial adenomatous polyposis 1
  • c.933+10G>T Multiple submitters familial adenomatous polyposis 1
  • c.933+15C>T Multiple submitters familial adenomatous polyposis 1
  • c.933+16A>G Multiple submitters hereditary neoplastic syndrome
  • c.933+17A>C Multiple submitters hereditary neoplastic syndrome
  • c.933+19C>A Multiple submitters familial adenomatous polyposis 1
  • c.933+7G>A Multiple submitters familial adenomatous polyposis 1
  • c.933+7G>C Multiple submitters familial adenomatous polyposis 1
  • c.934-16C>T Multiple submitters familial adenomatous polyposis 1
  • c.934-19A>C Multiple submitters familial adenomatous polyposis 1
  • c.934-19A>G Multiple submitters familial adenomatous polyposis 1
  • c.934-20T>C Multiple submitters familial adenomatous polyposis 1
  • c.934-4A>G Multiple submitters hereditary neoplastic syndrome
  • c.934-5C>T Multiple submitters familial adenomatous polyposis 1
  • c.934-7C>T Multiple submitters hereditary neoplastic syndrome
  • c.934-8G>A Multiple submitters familial adenomatous polyposis 1
  • c.-130G>C Multiple submitters familial adenomatous polyposis 1
  • c.-131G>C Multiple submitters familial adenomatous polyposis 1
  • c.-133C>T Multiple submitters familial adenomatous polyposis 1
  • c.-140C>A Multiple submitters familial adenomatous polyposis 1
  • c.-14A>G Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.-19+45G>A Multiple submitters familial adenomatous polyposis 1
  • c.-19+509G>A Multiple submitters
  • c.*142C>T Multiple submitters APC-Associated Polyposis Disorders
  • c.*1497C>T Multiple submitters APC-Associated Polyposis Disorders
  • p.Ala1316= Multiple submitters familial adenomatous polyposis 1
  • p.Ala1591= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1606= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1670= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala1718= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1907= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2121= Multiple submitters hereditary neoplastic syndrome
  • p.Ala219= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2286= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2313= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2447= Multiple submitters hereditary neoplastic syndrome
  • p.Ala2472= Multiple submitters familial adenomatous polyposis 1
  • p.Ala300= Multiple submitters familial adenomatous polyposis 1
  • p.Ala4= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala504= Multiple submitters hereditary neoplastic syndrome
  • p.Ala591= Multiple submitters hereditary neoplastic syndrome
  • p.Ala689= Multiple submitters familial adenomatous polyposis 1
  • p.Ala723= Multiple submitters familial adenomatous polyposis 1
  • p.Arg1069= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1103= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1171= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1171His Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Arg1450= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2166= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2418= Multiple submitters familial adenomatous polyposis 1
  • p.Arg2431= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2476= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2525= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2673= Multiple submitters hereditary neoplastic syndrome
  • p.Arg2801= Multiple submitters hereditary neoplastic syndrome
  • p.Arg283= Multiple submitters hereditary neoplastic syndrome
  • p.Arg382= Multiple submitters hereditary neoplastic syndrome
  • p.Arg414= Multiple submitters hereditary neoplastic syndrome
  • p.Arg564= Multiple submitters hereditary neoplastic syndrome
  • p.Arg640= Multiple submitters hereditary neoplastic syndrome
  • p.Arg810= Multiple submitters familial adenomatous polyposis 1
  • p.Arg850= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Asn1017= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1217= Multiple submitters familial adenomatous polyposis 1
  • p.Asn1830= Multiple submitters hereditary neoplastic syndrome
  • p.Asn2636= Multiple submitters familial adenomatous polyposis 1
  • p.Asn2705= Multiple submitters hereditary neoplastic syndrome
  • p.Asn2723= Multiple submitters hereditary neoplastic syndrome
  • p.Asn679= Multiple submitters familial adenomatous polyposis 1
  • p.Asp1033= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1422= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1825= Multiple submitters hereditary neoplastic syndrome
  • p.Asp183= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1994= Multiple submitters hereditary neoplastic syndrome
  • p.Asp2306= Multiple submitters hereditary neoplastic syndrome
  • p.Asp2430= Multiple submitters hereditary neoplastic syndrome
  • p.Asp285= Multiple submitters hereditary neoplastic syndrome
  • p.Asp29= Multiple submitters hereditary neoplastic syndrome
  • p.Asp342= Multiple submitters hereditary neoplastic syndrome
  • p.Asp459= Multiple submitters familial adenomatous polyposis 1
  • p.Asp610= Multiple submitters hereditary neoplastic syndrome
  • p.Asp651= Multiple submitters hereditary neoplastic syndrome
  • p.Asp808= Multiple submitters hereditary neoplastic syndrome
  • p.Asp842= Multiple submitters hereditary neoplastic syndrome
  • p.Cys1855= Multiple submitters hereditary neoplastic syndrome
  • p.Cys344= Multiple submitters hereditary neoplastic syndrome
  • p.Cys599= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1175= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1256= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1922= Multiple submitters hereditary neoplastic syndrome
  • p.Gln2040= Multiple submitters hereditary neoplastic syndrome
  • p.Gln208= Multiple submitters hereditary neoplastic syndrome
  • p.Gln2154= Multiple submitters hereditary neoplastic syndrome
  • p.Gln233= Multiple submitters hereditary neoplastic syndrome
  • p.Gln757= Multiple submitters hereditary neoplastic syndrome
  • p.Gln8= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1155= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1309= Multiple submitters hereditary neoplastic syndrome
  • p.Glu14= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1494= Multiple submitters familial adenomatous polyposis 1
  • p.Glu1536= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1538= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1719= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1720= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1880= Multiple submitters hereditary neoplastic syndrome
  • p.Glu2015= Multiple submitters hereditary neoplastic syndrome
  • p.Glu2061= Multiple submitters hereditary neoplastic syndrome
  • p.Glu225= Multiple submitters familial adenomatous polyposis 1
  • p.Glu2281= Multiple submitters hereditary neoplastic syndrome
  • p.Glu2433= Multiple submitters familial adenomatous polyposis 1
  • p.Glu2458= Multiple submitters familial adenomatous polyposis 1
  • p.Glu2579= Multiple submitters hereditary neoplastic syndrome
  • p.Glu468= Multiple submitters hereditary neoplastic syndrome
  • p.Glu477= Multiple submitters familial adenomatous polyposis 1
  • p.Glu853= Multiple submitters hereditary neoplastic syndrome
  • p.Glu941= Multiple submitters familial adenomatous polyposis 1
  • p.Gly101= Multiple submitters hereditary neoplastic syndrome
  • p.Gly126= Multiple submitters hereditary neoplastic syndrome
  • p.Gly1499= Multiple submitters hereditary neoplastic syndrome
  • p.Gly1646= Multiple submitters hereditary neoplastic syndrome
  • p.Gly1674= Multiple submitters hereditary neoplastic syndrome
  • p.Gly1678= Multiple submitters hereditary neoplastic syndrome
  • p.Gly1721= Multiple submitters hereditary neoplastic syndrome
  • p.Gly2145= Multiple submitters hereditary neoplastic syndrome
  • p.Gly2190= Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Gly2201= Multiple submitters hereditary neoplastic syndrome
  • p.Gly2264= Multiple submitters hereditary neoplastic syndrome
  • p.Gly2293= Multiple submitters hereditary neoplastic syndrome
  • p.Gly2362= Multiple submitters hereditary neoplastic syndrome
  • p.Gly2383= Multiple submitters hereditary neoplastic syndrome

Uncertain significance 8172

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

  • c.136-4A>G Expert panel familial adenomatous polyposis 1
  • c.1408+735A>T Expert panel familial adenomatous polyposis 1
  • c.423-3_423-2del Expert panel familial adenomatous polyposis 1
  • c.645+2T>G Expert panel familial adenomatous polyposis 1
  • c.835-17A>G Expert panel familial adenomatous polyposis 1
  • p.Arg141Lys Expert panel familial adenomatous polyposis 1
  • p.Arg141Thr Expert panel familial adenomatous polyposis 1 ⚠
  • p.Arg24Ter Expert panel familial adenomatous polyposis 1
  • p.Arg2816Ter Expert panel classic or attenuated familial adenomatous polyposis
  • p.Arg348Ter Expert panel familial adenomatous polyposis 1
  • p.Asn1026Thr Expert panel familial adenomatous polyposis 1 ⚠
  • p.Cys1578Gly Expert panel familial adenomatous polyposis 1 ⚠
  • p.Gln12fs Expert panel familial adenomatous polyposis 1
  • p.Gln208Arg Expert panel familial adenomatous polyposis 1 ⚠
  • p.Glu1317Gly Expert panel familial adenomatous polyposis 1 ⚠
  • p.Glu2655fs Expert panel familial adenomatous polyposis 1
  • p.Gly1921Ser Expert panel familial adenomatous polyposis 1
  • p.Ile1579Phe Expert panel familial adenomatous polyposis 1 ⚠
  • p.Leu370del Expert panel familial adenomatous polyposis 1
  • p.Ser2697Ter Expert panel classic or attenuated familial adenomatous polyposis
  • p.Ser2830fs Expert panel classic or attenuated familial adenomatous polyposis
  • p.Ser634Arg Expert panel familial adenomatous polyposis 1
  • p.Ter2844Glu Expert panel familial adenomatous polyposis 1
  • p.Thr1380Ile Expert panel familial adenomatous polyposis 1 ⚠
  • p.Thr2266_Ser2270del Expert panel familial adenomatous polyposis 1
  • p.Thr252Ala Expert panel familial adenomatous polyposis 1 ⚠
  • p.Val543Phe Expert panel familial adenomatous polyposis 1 ⚠
  • c.1313-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.1314_1325del12 Multiple submitters hereditary neoplastic syndrome
  • c.135+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.136-3C>A Multiple submitters hereditary neoplastic syndrome
  • c.1408+6A>C Multiple submitters familial adenomatous polyposis 1
  • c.1409-3T>C Multiple submitters familial adenomatous polyposis 1
  • c.1548+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.1548+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.1626+3A>C Multiple submitters hereditary neoplastic syndrome
  • c.1626+4C>G Multiple submitters familial adenomatous polyposis 1
  • c.1626+6A>G Multiple submitters familial adenomatous polyposis 1
  • c.165+1G>A Multiple submitters familial adenomatous polyposis 1
  • c.1958+4T>C Multiple submitters hereditary neoplastic syndrome
  • c.1958+5del Multiple submitters hereditary neoplastic syndrome
  • c.220+3del Multiple submitters hereditary neoplastic syndrome
  • c.220+5A>G Multiple submitters hereditary neoplastic syndrome
  • c.422+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.423-4_423-2del Multiple submitters familial adenomatous polyposis 1
  • c.423-4A>G Multiple submitters hereditary neoplastic syndrome
  • c.645+4A>T Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.729+3del Multiple submitters familial adenomatous polyposis 1
  • c.729+4A>G Multiple submitters familial adenomatous polyposis 1
  • c.730-3_730-2dup Multiple submitters hereditary neoplastic syndrome
  • c.730-3C>A Multiple submitters hereditary neoplastic syndrome
  • c.834+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.933+4A>G Multiple submitters hereditary neoplastic syndrome
  • c.934-2A>G Multiple submitters familial adenomatous polyposis 1
  • c.-113A>G Multiple submitters familial adenomatous polyposis 1
  • c.-123del Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.-124C>A Multiple submitters familial adenomatous polyposis 1
  • c.-124C>T Multiple submitters familial adenomatous polyposis 1
  • c.-125A>C Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.-126G>A Multiple submitters hereditary neoplastic syndrome
  • c.-127_-126dup Multiple submitters familial adenomatous polyposis 1
  • c.-130G>T Multiple submitters familial adenomatous polyposis 1
  • c.-133_-132insA Multiple submitters familial adenomatous polyposis 1
  • c.-134T>C Multiple submitters familial adenomatous polyposis 1
  • c.-142G>A Multiple submitters familial adenomatous polyposis 1
  • c.-167G>A Multiple submitters gastric cancer
  • c.-182G>A Multiple submitters familial adenomatous polyposis 1
  • c.-184G>C Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.-187G>A Multiple submitters hereditary neoplastic syndrome
  • c.-188C>A Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.-189G>A Multiple submitters hereditary neoplastic syndrome
  • c.-193G>A Multiple submitters familial adenomatous polyposis 1
  • c.-196C>T Multiple submitters hereditary neoplastic syndrome
  • c.-207C>T Multiple submitters familial adenomatous polyposis 1
  • c.-32C>T Multiple submitters gastric adenocarcinoma and proximal polyposis of the stomach
  • c.-4A>C Multiple submitters hereditary neoplastic syndrome
  • c.-68G>C Multiple submitters familial adenomatous polyposis 1
  • c.-7G>T Multiple submitters classic or attenuated familial adenomatous polyposis
  • c.-88T>G Multiple submitters familial adenomatous polyposis 1
  • c.-93G>C Multiple submitters colorectal cancer
  • p.1277_1279LSS[3] Multiple submitters hereditary neoplastic syndrome
  • p.2026_2028SLS[3] Multiple submitters hereditary neoplastic syndrome
  • p.2026SLS[1] Multiple submitters familial adenomatous polyposis 1
  • p.2406NG[1] Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.380RA[3] Multiple submitters hereditary neoplastic syndrome
  • p.Ala1002Gly Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala1005Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala1011Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala1050Gly Multiple submitters hereditary neoplastic syndrome
  • p.Ala1050Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala1107Ser Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala1107Val Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala1225Asp Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala1225Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1225Thr Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala1236_Gly1241dup Multiple submitters familial adenomatous polyposis 1
  • p.Ala1236Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1247Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1283Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala1283Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala1296Val Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala1305Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1325Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala1347Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1351Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1351Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1358Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala1366Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala1366Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala1402Val Multiple submitters familial adenomatous polyposis 1
  • p.Ala1460Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala146Gly Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala146Ser Multiple submitters familial adenomatous polyposis 1
  • p.Ala146Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala146Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala1470Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala1471Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1485Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala1492Thr Multiple submitters familial adenomatous polyposis 1
  • p.Ala1508Ser Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala1508Thr Multiple submitters familial adenomatous polyposis 1
  • p.Ala1553Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1553Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1553Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1582Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1582Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1591Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1591Thr Multiple submitters classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala1595Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1598Asp Multiple submitters hereditary neoplastic syndrome
  • p.Ala1598Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala1598Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala15Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1606Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala1606Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala160Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala1671Thr Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala1700Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1700Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1700Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1700Thr Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala1700Val Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala1718Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1725Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala1731Gly Multiple submitters familial adenomatous polyposis 1
  • p.Ala1731Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1753Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala1753Thr Multiple submitters familial adenomatous polyposis 1
  • p.Ala1755Ser Multiple submitters classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala1759Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1793Glu Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala1793Val Multiple submitters classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala1801Gly Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala1801Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1879Asp Multiple submitters hereditary neoplastic syndrome
  • p.Ala1879Pro Multiple submitters familial adenomatous polyposis 1
  • p.Ala1879Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala1884Thr Multiple submitters familial adenomatous polyposis 1
  • p.Ala1892Asp Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala1892Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1907Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1912Gly Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala1912Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1912Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1914Val Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala193Gly Multiple submitters hereditary neoplastic syndrome
  • p.Ala1945Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala1945Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1955Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala199Gly Multiple submitters hereditary neoplastic syndrome
  • p.Ala199Thr Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala199Val Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala2004Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2008Gly Multiple submitters hereditary neoplastic syndrome
  • p.Ala2008Thr Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala2046Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2103Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2108Ser Multiple submitters familial adenomatous polyposis 1
  • p.Ala2108Thr Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala2108Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2118Gly Multiple submitters hereditary neoplastic syndrome
  • p.Ala2119Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala2120Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2120Ser Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala2120Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala2120Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala2121_Ala2122dup Multiple submitters familial adenomatous polyposis 1
  • p.Ala2121Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala2121Thr Multiple submitters familial adenomatous polyposis 1
  • p.Ala2122del Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala2122Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala2128Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala214Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala219Asp Multiple submitters hereditary neoplastic syndrome
  • p.Ala2257Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2257Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2313Thr Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala2313Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2354Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2354Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2388Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2388Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2397Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala2397Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala239Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala239Ser Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala239Thr Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala2410Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2410Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala242Gly Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala2447Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala2447Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala2447Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala2472Gly Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala2472Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2472Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2479Thr Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala2479Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2501Asp Multiple submitters classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala2501Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2523Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2529Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala2576Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala2576Val Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala2584Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala2608Gly Multiple submitters familial adenomatous polyposis 1
  • p.Ala2608Val Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala2634Asp Multiple submitters hereditary neoplastic syndrome
  • p.Ala2634Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala2638Val Multiple submitters familial adenomatous polyposis 1
  • p.Ala2648Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala2648Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala2690Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala2690Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala2702Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2702Val Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala272Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala2730Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2730Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2730Thr Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala2730Val Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala2778Gly Multiple submitters familial adenomatous polyposis 1
  • p.Ala2778Thr Multiple submitters familial adenomatous polyposis 1
  • p.Ala2795Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2795Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala2795Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2800Pro Multiple submitters familial adenomatous polyposis 1
  • p.Ala2800Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala289Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala289Val Multiple submitters familial adenomatous polyposis 1
  • p.Ala2Gly Multiple submitters hereditary neoplastic syndrome
  • p.Ala3= Multiple submitters familial adenomatous polyposis 1
  • p.Ala300Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala300Thr Multiple submitters familial adenomatous polyposis 1
  • p.Ala379Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala379Thr Multiple submitters familial adenomatous polyposis 1
  • p.Ala381Ser Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala381Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala385Val Multiple submitters familial adenomatous polyposis 1
  • p.Ala3Val Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala41Val Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala426Asp Multiple submitters hereditary neoplastic syndrome
  • p.Ala426Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala440Gly Multiple submitters hereditary neoplastic syndrome
  • p.Ala440Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala449Thr Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala449Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala465Gly Multiple submitters hereditary neoplastic syndrome
  • p.Ala465Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala476Ser Multiple submitters familial adenomatous polyposis 1
  • p.Ala476Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala476Val Multiple submitters familial adenomatous polyposis 1
  • p.Ala4Pro Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala4Ser Multiple submitters classic or attenuated familial adenomatous polyposis ⚠
  • p.Ala4Thr Multiple submitters familial adenomatous polyposis 1
  • p.Ala501Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala501Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala501Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala501Val Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala504Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala517Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala528Ser Multiple submitters familial adenomatous polyposis 1
  • p.Ala528Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala531Gly Multiple submitters familial adenomatous polyposis 1
  • p.Ala531Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala555Gly Multiple submitters colorectal cancer
  • p.Ala571Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala597Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala59Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala59Pro Multiple submitters classic or attenuated familial adenomatous polyposis
  • p.Ala59Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala59Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala604Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala604Thr Multiple submitters familial adenomatous polyposis 1
  • p.Ala604Val Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala608Thr Multiple submitters familial adenomatous polyposis 1 ⚠
  • p.Ala612Gly Multiple submitters hereditary neoplastic syndrome
  • p.Ala612Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala612Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala612Val Multiple submitters familial adenomatous polyposis 1