Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000005.9:g.112001178_112043328del42151 | 324 | APC | Likely pathogenic | -1 | RCV000704595; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112001178 | 112043328 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.(?_112001178)_(112043328_?)del | 324 | APC | Pathogenic | -1 | RCV001920059; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112001178 | 112043328 | na | na | -1 | - | | |
NC_000005.9:g.112043006_112043009delinsCCCA | 324 | APC | Uncertain significance | -1 | RCV002015123; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043006 | 112043009 | GGGC | CCCA | 112043006 | - | | |
NC_000005.10:g.(?_112707312)_(112707902_?)del | 324 | APC | Pathogenic | -1 | RCV000493148|RCV001865533; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112043599 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.(?_112043009)_(112043599_?)dup | 324 | APC | Uncertain significance | -1 | RCV000557176|RCV001853708; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112043599 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.10:g.(?_112707312)_(112780909_?)del | 324 | APC | Pathogenic | -1 | RCV000535350|RCV001853709; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112116606 | na | na | -1 | - | | |
NM_000038.5(APC):c.-30632C>T | 324 | APC | Benign | rs185951958 | RCV000534603; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112043009 | C | T | NC_000005.9:g.112043009C>T | ClinGen:CA124924532 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.(?_112043009)_(112073585_?)dup | 324 | APC | Uncertain significance | -1 | RCV000808623|RCV001856253; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112073585 | na | na | | - | | |
NC_000005.10:g.(?_112707312)_(112780913_?)del | 324 | APC | Pathogenic | -1 | RCV000802583|RCV001856249; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112116610 | na | na | | - | | |
NC_000005.10:g.(?_112707312)_(112844136_?)del | 324 | APC | Pathogenic | -1 | RCV000813324|RCV001869256; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112179833 | na | na | | - | | |
NC_000005.9:g.(?_112043009)_(112111444_?)dup | 324 | APC | Uncertain significance | -1 | RCV000821942; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112111444 | na | na | | - | | |
NC_000005.10:g.(?_112707312)_(112844126_?)del | 324 | APC | Pathogenic | -1 | RCV000820596|RCV001856258; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112179823 | na | na | | - | | |
NC_000005.10:g.(?_112707312)_(112755035_?)del | 324 | APC | Pathogenic | -1 | RCV001032582; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112090732 | na | na | -1 | - | | |
NC_000005.10:g.(?_112707312)_(112779851_?)dup | 324 | APC | Uncertain significance | -1 | RCV001032224|RCV001862449; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112115548 | na | na | -1 | - | | |
NC_000005.10:g.(?_112707312)_(112828982_?)dup | 324 | APC | Uncertain significance | -1 | RCV001031303|RCV001862443; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112164679 | na | na | -1 | - | | |
NC_000005.10:g.(?_112707312)_(112844136_?)dup | 324 | APC | Uncertain significance | -1 | RCV001032102; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112179833 | na | na | -1 | - | | |
NC_000005.9:g.112043009_112043010insTGCA | 324 | APC | Uncertain significance | -1 | RCV001368938; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112043010 | C | CTGCA | 112043009 | - | | |
NC_000005.9:g.(?_112043009)_(112151296_?)del | 324 | APC | Pathogenic | -1 | RCV001381156; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112151296 | na | na | -1 | - | | |
NC_000005.9:g.(?_112043009)_(112182936_?)del | 324 | APC | Pathogenic | -1 | RCV001381152; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112182936 | na | na | -1 | - | | |
NC_000005.9:g.(?_112043009)_(112073585_?)del | 324 | APC | Pathogenic | -1 | RCV001953897; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112073585 | na | na | -1 | - | | |
NC_000005.9:g.(?_112043009)_(112103097_?)del | 324 | APC | Pathogenic | -1 | RCV001953492; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112103097 | na | na | -1 | - | | |
NC_000005.9:g.(?_112043009)_(112179829_?)del | 324 | APC | Pathogenic | -1 | RCV001949513; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043009 | 112179829 | na | na | -1 | - | | |
NM_000038.6(APC):c.-30630G>A | 324 | APC | Uncertain significance | rs1214142280 | RCV000803445; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043011 | 112043011 | G | A | 5:g.112043011G>A | - | | |
NC_000005.9:g.112043012C>T | 324 | APC | Uncertain significance | rs1750548089 | RCV001297737; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043012 | 112043012 | C | T | 112043012 | - | | |
NC_000005.9:g.112043013A>G | 324 | APC | Uncertain significance | -1 | RCV002010155; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043013 | 112043013 | A | G | 112043013 | - | | |
NC_000005.9:g.112043013A>T | 324 | APC | Uncertain significance | -1 | RCV001940042; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043013 | 112043013 | A | T | 112043013 | - | | |
NC_000005.9:g.112043014G>C | 324 | APC | Uncertain significance | -1 | RCV001870634; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043014 | 112043014 | G | C | 112043014 | - | | |
NM_000038.5(APC):c.-30626C>G | 324 | APC | Uncertain significance | rs931897682 | RCV000558548; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043015 | 112043015 | C | G | 5:g.112043015C>G | ClinGen:CA124924533 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043017C>A | 324 | APC | Uncertain significance | -1 | RCV001965565; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043017 | 112043017 | C | A | 112043017 | - | | |
NC_000005.9:g.112043020T>C | 324 | APC | Uncertain significance | -1 | RCV001363041; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043020 | 112043020 | T | C | 112043020 | - | | |
NC_000005.9:g.112043022C>G | 324 | APC | Uncertain significance | rs1750548351 | RCV001351971; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043022 | 112043022 | C | G | 112043022 | - | | |
NC_000005.9:g.112043023_112043024insGAGAAGGCCAGTAAGTGCTGCAACT | 324 | APC | Uncertain significance | -1 | RCV001373802; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043023 | 112043024 | A | AGAGAAGGCCAGTAAGTGCTGCAACT | 112043023 | - | | |
NC_000005.9:g.112043023A>T | 324 | APC | Uncertain significance | -1 | RCV001890049; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043023 | 112043023 | A | T | 112043023 | - | | |
NC_000005.9:g.112043024G>C | 324 | APC | Uncertain significance | rs1750548429 | RCV001320857; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043024 | 112043024 | G | C | 112043024 | - | | |
NC_000005.9:g.112043025_112043027del | 324 | APC | Uncertain significance | -1 | RCV002037106; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043025 | 112043027 | GAGA | G | 112043024 | - | | |
NC_000005.9:g.112043026G>A | 324 | APC | Uncertain significance | rs1750548760 | RCV001325712; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043026 | 112043026 | G | A | 112043026 | - | | |
NM_000038.6(APC):c.-30612G>A | 324 | APC | Uncertain significance | rs1461935725 | RCV000799564; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043029 | 112043029 | G | A | 5:g.112043029G>A | - | | |
NM_000038.6(APC):c.-30612G>C | 324 | APC | Uncertain significance | rs1461935725 | RCV000804953; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043029 | 112043029 | G | C | 5:g.112043029G>C | - | | |
NC_000005.9:g.112043029del | 324 | APC | Uncertain significance | -1 | RCV001360440; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043029 | 112043029 | AG | A | 112043028 | - | | |
NM_000038.5(APC):c.-30611G>T | 324 | APC | Uncertain significance | rs1554060090 | RCV000646547; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043030 | 112043030 | G | T | 5:g.112043030G>T | ClinGen:CA658796584 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.-30611G>A | 324 | APC | Uncertain significance | rs1554060090 | RCV000792135; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043030 | 112043030 | G | A | 5:g.112043030G>A | - | | |
NM_000038.5(APC):c.-30610C>T | 324 | APC | Uncertain significance | rs1554060091 | RCV000546163; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043031 | 112043031 | C | T | NC_000005.9:g.112043031C>T | ClinGen:CA658655864 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30608A>G | 324 | APC | Uncertain significance | rs1554060092 | RCV000545228; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043033 | 112043033 | A | G | 5:g.112043033A>G | ClinGen:CA658655865 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30608A>T | 324 | APC | Uncertain significance | rs1554060092 | RCV000557633; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043033 | 112043033 | A | T | 5:g.112043033A>T | ClinGen:CA658655866 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.-30608dup | 324 | APC | Uncertain significance | rs1293984809 | RCV000807321; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043033 | 112043033 | C | CA | 5:g.112043032_112043033insA | - | | |
NC_000005.9:g.112043034G>A | 324 | APC | Uncertain significance | -1 | RCV002044864; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043034 | 112043034 | G | A | 112043034 | - | | |
NM_000038.6(APC):c.-30606dup | 324 | APC | Uncertain significance | rs1156546602 | RCV000800720; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043035 | 112043035 | G | GT | 5:g.112043034_112043035insT | - | | |
NC_000005.9:g.112043035T>C | 324 | APC | Uncertain significance | rs1750549577 | RCV001346044; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043035 | 112043035 | T | C | 112043035 | - | | |
NM_000038.5(APC):c.-30605A>T | 324 | APC | Uncertain significance | rs1554060095 | RCV000532741; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043036 | 112043036 | A | T | NC_000005.9:g.112043036A>T | ClinGen:CA445747779 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043036A>G | 324 | APC | Uncertain significance | rs1554060095 | RCV001295133; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043036 | 112043036 | A | G | 112043036 | - | | |
NC_000005.9:g.112043037A>G | 324 | APC | Uncertain significance | rs1469439532 | RCV001308881; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043037 | 112043037 | A | G | 112043037 | - | | |
NM_000038.5(APC):c.-30603G>C | 324 | APC | Uncertain significance | rs1554060097 | RCV000646528; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043038 | 112043038 | G | C | NC_000005.9:g.112043038G>C | ClinGen:CA658796585 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.-30602T>C | 324 | APC | Uncertain significance | rs1580995288 | RCV000802426; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043039 | 112043039 | T | C | 5:g.112043039T>C | - | | |
NC_000005.9:g.112043039T>G | 324 | APC | Uncertain significance | rs1580995288 | RCV001316399; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043039 | 112043039 | T | G | 112043039 | - | | |
NM_000038.6(APC):c.-30601G>C | 324 | APC | Uncertain significance | rs1050218356 | RCV000822079; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043040 | 112043040 | G | C | 5:g.112043040G>C | - | | |
NC_000005.9:g.112043041C>G | 324 | APC | Uncertain significance | -1 | RCV001372664; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043041 | 112043041 | C | G | 112043041 | - | | |
NC_000005.9:g.112043042del | 324 | APC | Uncertain significance | rs1750550359 | RCV001313067; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043042 | 112043042 | CT | C | 112043041 | - | | |
NC_000005.9:g.112043042T>C | 324 | APC | Uncertain significance | rs1750550286 | RCV001321554; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043042 | 112043042 | T | C | 112043042 | - | | |
NM_000038.6(APC):c.-30598G>A | 324 | APC | Uncertain significance | rs1232455560 | RCV000792123; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043043 | 112043043 | G | A | 5:g.112043043G>A | - | | |
NC_000005.9:g.112043043G>C | 324 | APC | Uncertain significance | rs1232455560 | RCV001344582; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043043 | 112043043 | G | C | 112043043 | - | | |
NC_000005.9:g.112043043G>T | 324 | APC | Uncertain significance | -1 | RCV002049823; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043043 | 112043043 | G | T | 112043043 | - | | |
NM_000038.6(APC):c.-30596A>G | 324 | APC | Uncertain significance | rs887610659 | RCV000816471; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043045 | 112043045 | A | G | 5:g.112043045A>G | - | | |
NC_000005.9:g.112043045A>C | 324 | APC | Uncertain significance | -1 | RCV001973815; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043045 | 112043045 | A | C | 112043045 | - | | |
NC_000005.9:g.112043046A>G | 324 | APC | Uncertain significance | rs1750550706 | RCV001348074; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043046 | 112043046 | A | G | 112043046 | - | | |
NC_000005.9:g.112043047C>T | 324 | APC | Uncertain significance | rs1750550790 | RCV001299893; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043047 | 112043047 | C | T | 112043047 | - | | |
NC_000005.9:g.112043047C>A | 324 | APC | Uncertain significance | rs1750550790 | RCV001320223; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043047 | 112043047 | C | A | 112043047 | - | | |
NM_000038.5(APC):c.-30593T>C | 324 | APC | Uncertain significance | rs1554060105 | RCV000556687; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043048 | 112043048 | T | C | NC_000005.9:g.112043048T>C | ClinGen:CA658655867 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043049G>T | 324 | APC | Uncertain significance | -1 | RCV002021578; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043049 | 112043049 | G | T | 112043049 | - | | |
NM_000038.6(APC):c.-30591dup | 324 | APC | Uncertain significance | rs1580995299 | RCV000808111; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043050 | 112043050 | G | GA | 5:g.112043049_112043050insA | - | | |
NM_000038.5(APC):c.-30590G>A | 324 | APC | Likely benign | rs545524187 | RCV000544296; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043051 | 112043051 | G | A | NC_000005.9:g.112043051G>A | ClinGen:CA124924542 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043051G>C | 324 | APC | Uncertain significance | rs545524187 | RCV001337730; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043051 | 112043051 | G | C | 112043051 | - | | |
NC_000005.9:g.112043052A>G | 324 | APC | Uncertain significance | rs1750551409 | RCV001326226; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043052 | 112043052 | A | G | 112043052 | - | | |
NC_000005.9:g.112043052A>T | 324 | APC | Uncertain significance | -1 | RCV002024325; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043052 | 112043052 | A | T | 112043052 | - | | |
NC_000005.9:g.112043053C>T | 324 | APC | Uncertain significance | -1 | RCV001996528; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043053 | 112043053 | C | T | 112043053 | - | | |
NM_000038.6(APC):c.-30587T>A | 324 | APC | Uncertain significance | rs1580995308 | RCV000795331; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043054 | 112043054 | T | A | 5:g.112043054T>A | - | | |
NM_000038.5(APC):c.-30586C>T | 324 | APC | Uncertain significance | rs1554060110 | RCV000646677; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043055 | 112043055 | C | T | 5:g.112043055C>T | ClinGen:CA658796586 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30585G>T | 324 | APC | Uncertain significance | rs560366894 | RCV000646645; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043056 | 112043056 | G | T | NC_000005.9:g.112043056G>T | ClinGen:CA658796587 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.-30585G>C | 324 | APC | Uncertain significance | rs560366894 | RCV000809131; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043056 | 112043056 | G | C | 5:g.112043056G>C | - | | |
NC_000005.9:g.112043058_112043059delinsTG | 324 | APC | Uncertain significance | rs1750551900 | RCV001299737; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043058 | 112043059 | CT | TG | 112043058 | - | | |
NC_000005.9:g.112043058C>A | 324 | APC | Uncertain significance | rs1750551783 | RCV001337518; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043058 | 112043058 | C | A | 112043058 | - | | |
NC_000005.9:g.112043058C>G | 324 | APC | Uncertain significance | rs1750551783 | RCV001339615; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043058 | 112043058 | C | G | 112043058 | - | | |
NC_000005.9:g.112043058_112043059delinsGG | 324 | APC | Uncertain significance | -1 | RCV001366310; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043058 | 112043059 | CT | GG | 112043058 | - | | |
NC_000005.9:g.112043059T>C | 324 | APC | Uncertain significance | rs113077479 | RCV001319338; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043059 | 112043059 | T | C | 112043059 | - | | |
NC_000005.9:g.112043059T>G | 324 | APC | Uncertain significance | -1 | RCV001363097; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043059 | 112043059 | T | G | 112043059 | - | | |
NC_000005.9:g.112043059T>A | 324 | APC | Uncertain significance | -1 | RCV001982790; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043059 | 112043059 | T | A | 112043059 | - | | |
NM_000038.6(APC):c.-30581G>A | 324 | APC | Uncertain significance | rs1580995331 | RCV000816264; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043060 | 112043060 | G | A | 5:g.112043060G>A | - | | |
NC_000005.9:g.112043060_112043061delinsCT | 324 | APC | Uncertain significance | -1 | RCV002006158; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043060 | 112043061 | GC | CT | 112043060 | - | | |
NC_000005.9:g.112043061C>T | 324 | APC | Uncertain significance | -1 | RCV001995086; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043061 | 112043061 | C | T | 112043061 | - | | |
NC_000005.9:g.112043061C>A | 324 | APC | Uncertain significance | -1 | RCV001995137; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043061 | 112043061 | C | A | 112043061 | - | | |
NM_000038.5(APC):c.-30579C>T | 324 | APC | Uncertain significance | rs1554060114 | RCV000531822; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043062 | 112043062 | C | T | 5:g.112043062C>T | ClinGen:CA658655868 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30578T>C | 324 | APC | Uncertain significance | rs929883108 | RCV000555784; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043063 | 112043063 | T | C | NC_000005.9:g.112043063T>C | ClinGen:CA124924550 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043063T>G | 324 | APC | Uncertain significance | -1 | RCV002028198; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043063 | 112043063 | T | G | 112043063 | - | | |
NM_000038.5(APC):c.-30577A>G | 324 | APC | Uncertain significance | rs1046974767 | RCV000538765; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043064 | 112043064 | A | G | NC_000005.9:g.112043064A>G | ClinGen:CA124924554 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043064A>C | 324 | APC | Uncertain significance | -1 | RCV001361106; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043064 | 112043064 | A | C | 112043064 | - | | |
NM_000038.5(APC):c.-30576G>A | 324 | APC | Uncertain significance | rs1320184514 | RCV000646536; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043065 | 112043065 | G | A | NC_000005.9:g.112043065G>A | ClinGen:CA658796588 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043065G>T | 324 | APC | Uncertain significance | rs1320184514 | RCV001320965; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043065 | 112043065 | G | T | 112043065 | - | | |
NM_000038.6(APC):c.-30575G>A | 324 | APC | Uncertain significance | rs1232017569 | RCV000801035; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043066 | 112043066 | G | A | 5:g.112043066G>A | - | | |
NM_000038.5(APC):c.-30574C>T | 324 | APC | Uncertain significance | rs1273083857 | RCV000530895; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043067 | 112043067 | C | T | 5:g.112043067C>T | ClinGen:CA561890078 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043067C>A | 324 | APC | Uncertain significance | -1 | RCV001366214; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043067 | 112043067 | C | A | 112043067 | - | | |
NC_000005.9:g.112043067C>G | 324 | APC | Uncertain significance | -1 | RCV001902548; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043067 | 112043067 | C | G | 112043067 | - | | |
NM_000038.5(APC):c.-30573A>G | 324 | APC | Uncertain significance | rs1554060123 | RCV000554842; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043068 | 112043068 | A | G | NC_000005.9:g.112043068A>G | ClinGen:CA658655869 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043069_112043070delinsTT | 324 | APC | Uncertain significance | rs1750552770 | RCV001348652; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043069 | 112043070 | GC | TT | 112043069 | - | | |
NC_000005.9:g.112043071A>C | 324 | APC | Uncertain significance | -1 | RCV001894939; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043071 | 112043071 | A | C | 112043071 | - | | |
NM_000038.5(APC):c.-30569A>G | 324 | APC | Benign | rs13180781 | RCV000421417|RCV000542411; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043072 | 112043072 | A | G | 5:g.112043072A>G | ClinGen:CA12147799 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043072_112043073delinsGC | 324 | APC | Uncertain significance | rs1750553249 | RCV001338537; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043072 | 112043073 | AT | GC | 112043072 | - | | |
NC_000005.9:g.112043072A>C | 324 | APC | Uncertain significance | -1 | RCV001362678; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043072 | 112043072 | A | C | 112043072 | - | | |
NM_000038.5(APC):c.-30568T>C | 324 | APC | Benign | rs1218378018 | RCV000525417; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043073 | 112043073 | T | C | 5:g.112043073T>C | ClinGen:CA561890079 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043073T>G | 324 | APC | Uncertain significance | rs1218378018 | RCV001317758; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043073 | 112043073 | T | G | 112043073 | - | | |
NC_000005.9:g.112043074G>A | 324 | APC | Uncertain significance | rs1005173527 | RCV001341712; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043074 | 112043074 | G | A | 112043074 | - | | |
NM_000038.6(APC):c.-30566G>C | 324 | APC | Uncertain significance | rs1243549213 | RCV000812467; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043075 | 112043075 | G | C | 5:g.112043075G>C | - | | |
NC_000005.9:g.112043075G>A | 324 | APC | Uncertain significance | rs1243549213 | RCV001301751; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043075 | 112043075 | G | A | 112043075 | - | | |
NC_000005.9:g.112043075G>T | 324 | APC | Uncertain significance | -1 | RCV001972156; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043075 | 112043075 | G | T | 112043075 | - | | |
NC_000005.9:g.112043076C>G | 324 | APC | Uncertain significance | -1 | RCV001374205; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043076 | 112043076 | C | G | 112043076 | - | | |
NC_000005.9:g.112043078C>G | 324 | APC | Uncertain significance | -1 | RCV001995903; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043078 | 112043078 | C | G | 112043078 | - | | |
NC_000005.9:g.112043079A>T | 324 | APC | Uncertain significance | -1 | RCV001986911; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043079 | 112043079 | A | T | 112043079 | - | | |
NC_000005.9:g.112043080C>G | 324 | APC | Uncertain significance | rs1484697641 | RCV001344735; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043080 | 112043080 | C | G | 112043080 | - | | |
NM_000038.5(APC):c.-30560G>A | 324 | APC | Uncertain significance | rs1554060128 | RCV000541490; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043081 | 112043081 | G | A | 5:g.112043081G>A | ClinGen:CA658655870 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30560G>C | 324 | APC | Uncertain significance | rs1554060128 | RCV000549428; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043081 | 112043081 | G | C | NC_000005.9:g.112043081G>C | ClinGen:CA658655871 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30559G>C | 324 | APC | Likely benign | rs1192399402 | RCV000529027; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043082 | 112043082 | G | C | NC_000005.9:g.112043082G>C | ClinGen:CA561890086 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043082G>A | 324 | APC | Uncertain significance | rs1192399402 | RCV001322826; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043082 | 112043082 | G | A | 112043082 | - | | |
NM_000038.5(APC):c.-30558G>C | 324 | APC | Uncertain significance | rs1351477360 | RCV000548472; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043083 | 112043083 | G | C | NC_000005.9:g.112043083G>C | ClinGen:CA658655872 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043083G>A | 324 | APC | Uncertain significance | -1 | RCV001966471; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043083 | 112043083 | G | A | 112043083 | - | | |
NM_000038.5(APC):c.-30555A>C | 324 | APC | Benign | rs1257642100 | RCV000535990; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043086 | 112043086 | A | C | 5:g.112043086A>C | ClinGen:CA561890088 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043086_112043087del | 324 | APC | Uncertain significance | rs1316145446 | RCV001300615; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043086 | 112043087 | CAG | C | 112043085 | - | | |
NC_000005.9:g.112043086A>G | 324 | APC | Uncertain significance | -1 | RCV002005136; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043086 | 112043086 | A | G | 112043086 | - | | |
NC_000005.9:g.112043087G>C | 324 | APC | Uncertain significance | rs1750554761 | RCV001303797; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043087 | 112043087 | G | C | 112043087 | - | | |
NC_000005.9:g.112043087G>T | 324 | APC | Uncertain significance | -1 | RCV002037612; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043087 | 112043087 | G | T | 112043087 | - | | |
NC_000005.9:g.112043088A>G | 324 | APC | Uncertain significance | -1 | RCV001371623; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043088 | 112043088 | A | G | 112043088 | - | | |
NC_000005.9:g.112043088A>T | 324 | APC | Uncertain significance | -1 | RCV001963696; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043088 | 112043088 | A | T | 112043088 | - | | |
NM_000038.5(APC):c.-30551C>G | 324 | APC | Uncertain significance | rs994601309 | RCV000559955; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043090 | 112043090 | C | G | 5:g.112043090C>G | ClinGen:CA124924605 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043090C>T | 324 | APC | Uncertain significance | -1 | RCV001929626; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043090 | 112043090 | C | T | 112043090 | - | | |
NM_000038.5(APC):c.-30550A>G | 324 | APC | Uncertain significance | rs571137741 | RCV000646684; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043091 | 112043091 | A | G | 5:g.112043091A>G | ClinGen:CA124924620 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043093C>T | 324 | APC | Uncertain significance | -1 | RCV001362529; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043093 | 112043093 | C | T | 112043093 | - | | |
NM_000038.5(APC):c.-30547G>T | 324 | APC | Uncertain significance | rs1554060134 | RCV000646618; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043094 | 112043094 | G | T | NC_000005.9:g.112043094G>T | ClinGen:CA658796589 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043094G>A | 324 | APC | Uncertain significance | rs1554060134 | RCV001327854; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043094 | 112043094 | G | A | 112043094 | - | | |
NC_000005.9:g.112043095A>C | 324 | APC | Uncertain significance | -1 | RCV002048899; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043095 | 112043095 | A | C | 112043095 | - | | |
NC_000005.9:g.112043095del | 324 | APC | Uncertain significance | -1 | RCV002001446; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043095 | 112043095 | GA | G | 112043094 | - | | |
NM_000038.6(APC):c.-30545A>G | 324 | APC | Uncertain significance | rs1580995476 | RCV000811852; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043096 | 112043096 | A | G | 5:g.112043096A>G | - | | |
NC_000005.9:g.112043096_112043097insGCAGTGCCCGGCAAGCGGAGC | 324 | APC | Uncertain significance | -1 | RCV001934246; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043096 | 112043097 | A | AGCAGTGCCCGGCAAGCGGAGC | 112043096 | - | | |
NC_000005.9:g.112043097G>A | 324 | APC | Uncertain significance | rs1750555732 | RCV001294660; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043097 | 112043097 | G | A | 112043097 | - | | |
NC_000005.9:g.112043097_112043098insCAGT | 324 | APC | Uncertain significance | -1 | RCV001366274; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043097 | 112043098 | G | GCAGT | 112043097 | - | | |
NC_000005.9:g.112043097G>C | 324 | APC | Uncertain significance | -1 | RCV001891530; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043097 | 112043097 | G | C | 112043097 | - | | |
NM_000038.5(APC):c.-30543C>G | 324 | APC | Uncertain significance | rs1554060135 | RCV000646635; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043098 | 112043098 | C | G | NC_000005.9:g.112043098C>G | ClinGen:CA658796590 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043099A>G | 324 | APC | Uncertain significance | -1 | RCV001373872; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043099 | 112043099 | A | G | 112043099 | - | | |
NC_000005.9:g.112043099A>C | 324 | APC | Uncertain significance | -1 | RCV002008391; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043099 | 112043099 | A | C | 112043099 | - | | |
NM_000038.5(APC):c.-30541G>C | 324 | APC | Uncertain significance | rs1035047381 | RCV000547630; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043100 | 112043100 | G | C | 5:g.112043100G>C | ClinGen:CA124924622 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.-30541G>A | 324 | APC | Uncertain significance | rs1035047381 | RCV000802886; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043100 | 112043100 | G | A | 5:g.112043100G>A | - | | |
NM_000038.5(APC):c.-30540T>C | 324 | APC | Uncertain significance | rs1248905809 | RCV000646580; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043101 | 112043101 | T | C | 5:g.112043101T>C | ClinGen:CA658796592 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30540T>A | 324 | APC | Uncertain significance | rs1248905809 | RCV000646617; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043101 | 112043101 | T | A | NC_000005.9:g.112043101T>A | ClinGen:CA658796591 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043102G>A | 324 | APC | Uncertain significance | rs1580995493 | RCV001314676; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043102 | 112043102 | G | A | 112043102 | - | | |
NC_000005.9:g.112043102G>C | 324 | APC | Uncertain significance | -1 | RCV001916774; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043102 | 112043102 | G | C | 112043102 | - | | |
NC_000005.9:g.112043103C>A | 324 | APC | Uncertain significance | rs1750556409 | RCV001308858; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043103 | 112043103 | C | A | 112043103 | - | | |
NC_000005.9:g.112043103C>T | 324 | APC | Uncertain significance | rs1750556409 | RCV001306793; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043103 | 112043103 | C | T | 112043103 | - | | |
NC_000005.9:g.112043103C>G | 324 | APC | Uncertain significance | -1 | RCV001366602; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043103 | 112043103 | C | G | 112043103 | - | | |
NC_000005.9:g.112043104C>A | 324 | APC | Uncertain significance | -1 | RCV001360304; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043104 | 112043104 | C | A | 112043104 | - | | |
NM_000038.5(APC):c.-30536C>G | 324 | APC | Uncertain significance | rs989021062 | RCV000646674; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043105 | 112043105 | C | G | 5:g.112043105C>G | ClinGen:CA124924626 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043105C>T | 324 | APC | Uncertain significance | rs989021062 | RCV001319613; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043105 | 112043105 | C | T | 112043105 | - | | |
NM_000038.5(APC):c.-30535G>C | 324 | APC | Uncertain significance | rs1020543876 | RCV000646696; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043106 | 112043106 | G | C | 5:g.112043106G>C | ClinGen:CA658796593 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043106G>A | 324 | APC | Uncertain significance | rs1020543876 | RCV001295213; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043106 | 112043106 | G | A | 112043106 | - | | |
NC_000005.9:g.112043106G>T | 324 | APC | Uncertain significance | -1 | RCV001368770; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043106 | 112043106 | G | T | 112043106 | - | | |
NC_000005.9:g.112043107G>A | 324 | APC | Uncertain significance | -1 | RCV001368267; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043107 | 112043107 | G | A | 112043107 | - | | |
NC_000005.9:g.112043108C>T | 324 | APC | Uncertain significance | -1 | RCV002017468; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043108 | 112043108 | C | T | 112043108 | - | | |
NM_000038.5(APC):c.-30532A>T | 324 | APC | Uncertain significance | rs1012461653 | RCV000535175; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043109 | 112043109 | A | T | NC_000005.9:g.112043109A>T | ClinGen:CA561890092 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30532A>C | 324 | APC | Uncertain significance | rs1012461653 | RCV000646668; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043109 | 112043109 | A | C | 5:g.112043109A>C | ClinGen:CA124924639 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.-30532A>G | 324 | APC | Uncertain significance | rs1012461653 | RCV000813084; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043109 | 112043109 | A | G | 5:g.112043109A>G | - | | |
NC_000005.9:g.112043109del | 324 | APC | Uncertain significance | rs1750557687 | RCV001325859; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043109 | 112043109 | CA | C | 112043108 | - | | |
NM_000038.5(APC):c.-30531A>T | 324 | APC | Uncertain significance | rs1345543059 | RCV000559119; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043110 | 112043110 | A | T | NC_000005.9:g.112043110A>T | ClinGen:CA658655873 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.-30531A>G | 324 | APC | Uncertain significance | rs1345543059 | RCV000824336; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043110 | 112043110 | A | G | 5:g.112043110A>G | - | | |
NM_000038.5(APC):c.-30530G>A | 324 | APC | Uncertain significance | rs1432662523 | RCV000529702; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043111 | 112043111 | G | A | NC_000005.9:g.112043111G>A | ClinGen:CA658655875 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30530G>T | 324 | APC | Uncertain significance | rs1432662523 | RCV000546713; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043111 | 112043111 | G | T | NC_000005.9:g.112043111G>T | ClinGen:CA658655874 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.-30529C>T | 324 | APC | Uncertain significance | rs1580995550 | RCV000802908; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043112 | 112043112 | C | T | 5:g.112043112C>T | - | | |
NC_000005.9:g.112043112C>G | 324 | APC | Uncertain significance | rs1580995550 | RCV001340063; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043112 | 112043112 | C | G | 112043112 | - | | |
NC_000005.9:g.112043112C>A | 324 | APC | Uncertain significance | -1 | RCV001891258; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043112 | 112043112 | C | A | 112043112 | - | | |
NM_000038.5(APC):c.-30528G>T | 324 | APC | Uncertain significance | rs1373788988 | RCV000646666; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043113 | 112043113 | G | T | 5:g.112043113G>T | ClinGen:CA658796594 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043113G>C | 324 | APC | Uncertain significance | -1 | RCV001359165; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043113 | 112043113 | G | C | 112043113 | - | | |
NM_000038.6(APC):c.-30527G>C | 324 | APC | Uncertain significance | rs1173265814 | RCV000798344; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043114 | 112043114 | G | C | 5:g.112043114G>C | - | | |
NC_000005.9:g.112043114G>A | 324 | APC | Uncertain significance | rs1173265814 | RCV001312800; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043114 | 112043114 | G | A | 112043114 | - | | |
NM_000038.5(APC):c.-30526A>C | 324 | APC | Likely benign | rs372923973 | RCV000545800; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043115 | 112043115 | A | C | NC_000005.9:g.112043115A>C | ClinGen:CA124924643 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30526A>G | 324 | APC | Likely benign | rs372923973 | RCV000558211; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043115 | 112043115 | A | G | 5:g.112043115A>G | ClinGen:CA124924645 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043116G>A | 324 | APC | Uncertain significance | -1 | RCV001900768; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043116 | 112043116 | G | A | 112043116 | - | | |
NC_000005.9:g.112043116_112043117del | 324 | APC | Uncertain significance | -1 | RCV002038609; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043116 | 112043117 | AGC | A | 112043115 | - | | |
NM_000038.6(APC):c.-30524C>G | 324 | APC | Uncertain significance | rs1427438975 | RCV000792202; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043117 | 112043117 | C | G | 5:g.112043117C>G | - | | |
NC_000005.9:g.112043117C>A | 324 | APC | Uncertain significance | rs1427438975 | RCV001298739; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043117 | 112043117 | C | A | 112043117 | - | | |
NC_000005.9:g.112043117C>T | 324 | APC | Uncertain significance | rs1427438975 | RCV001296008; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043117 | 112043117 | C | T | 112043117 | - | | |
NC_000005.9:g.112043119C>A | 324 | APC | Uncertain significance | rs1750559277 | RCV001304786; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043119 | 112043119 | C | A | 112043119 | - | | |
NC_000005.9:g.112043120A>C | 324 | APC | Uncertain significance | -1 | RCV001908102; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043120 | 112043120 | A | C | 112043120 | - | | |
NC_000005.9:g.112043121G>C | 324 | APC | Uncertain significance | rs1185261719 | RCV001308961; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043121 | 112043121 | G | C | 112043121 | - | | |
NM_000038.6(APC):c.-30517C>T | 324 | APC | Uncertain significance | rs1580995582 | RCV000814358; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043124 | 112043124 | C | T | 5:g.112043124C>T | - | | |
NC_000005.9:g.112043124C>A | 324 | APC | Uncertain significance | rs1580995582 | RCV001325089; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043124 | 112043124 | C | A | 112043124 | - | | |
NC_000005.9:g.112043125C>T | 324 | APC | Uncertain significance | -1 | RCV001906062; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043125 | 112043125 | C | T | 112043125 | - | | |
NC_000005.9:g.112043125C>A | 324 | APC | Uncertain significance | -1 | RCV002008885; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043125 | 112043125 | C | A | 112043125 | - | | |
NC_000005.9:g.112043126C>T | 324 | APC | Uncertain significance | rs1343144964 | RCV001349875; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043126 | 112043126 | C | T | 112043126 | - | | |
NC_000005.9:g.112043127A>G | 324 | APC | Uncertain significance | -1 | RCV001893270; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043127 | 112043127 | A | G | 112043127 | - | | |
NM_000038.6(APC):c.-30513T>A | 324 | APC | Uncertain significance | rs532048458 | RCV000805520; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043128 | 112043128 | T | A | 5:g.112043128T>A | - | | |
NM_000038.6(APC):c.-30513T>C | 324 | APC | Uncertain significance | rs532048458 | RCV000802545; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043128 | 112043128 | T | C | 5:g.112043128T>C | - | | |
NC_000005.9:g.112043128T>G | 324 | APC | Uncertain significance | rs532048458 | RCV001300887; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043128 | 112043128 | T | G | 112043128 | - | | |
NC_000005.9:g.112043129T>C | 324 | APC | Uncertain significance | -1 | RCV001968100; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043129 | 112043129 | T | C | 112043129 | - | | |
NM_000038.6(APC):c.-30511G>A | 324 | APC | Uncertain significance | rs550204383 | RCV000791902; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043130 | 112043130 | G | A | 5:g.112043130G>A | - | | |
NC_000005.9:g.112043132G>C | 324 | APC | Uncertain significance | rs781399686 | RCV001318160; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043132 | 112043132 | G | C | 112043132 | - | | |
NC_000005.9:g.112043132G>T | 324 | APC | Uncertain significance | -1 | RCV001892013; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043132 | 112043132 | G | T | 112043132 | - | | |
NC_000005.9:g.112043133C>T | 324 | APC | Uncertain significance | -1 | RCV001943759; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043133 | 112043133 | C | T | 112043133 | - | | |
NM_000038.6(APC):c.-30507_-30493del | 324 | APC | Uncertain significance | rs1219201829 | RCV000791744; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043134 | 112043148 | CGCCTGCGCATAACAG | C | 5:g.112043132_112043146del | - | | |
NC_000005.9:g.112043134C>G | 324 | APC | Uncertain significance | rs978748301 | RCV001308041; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043134 | 112043134 | C | G | 112043134 | - | | |
NC_000005.9:g.112043134C>T | 324 | APC | Uncertain significance | rs978748301 | RCV001299748; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043134 | 112043134 | C | T | 112043134 | - | | |
NM_000038.5(APC):c.-30506T>C | 324 | APC | Uncertain significance | rs1279143171 | RCV000646601; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043135 | 112043135 | T | C | NC_000005.9:g.112043135T>C | ClinGen:CA658796595 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043136G>A | 324 | APC | Uncertain significance | rs1750561418 | RCV001337735; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043136 | 112043136 | G | A | 112043136 | - | | |
NM_000038.6(APC):c.-30504C>A | 324 | APC | Uncertain significance | rs968227350 | RCV000799327; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043137 | 112043137 | C | A | 5:g.112043137C>A | - | | |
NC_000005.9:g.112043137C>T | 324 | APC | Uncertain significance | -1 | RCV002033140; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043137 | 112043137 | C | T | 112043137 | - | | |
NM_000038.5(APC):c.-30503G>A | 324 | APC | Uncertain significance | rs979191484 | RCV000533333; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043138 | 112043138 | G | A | NC_000005.9:g.112043138G>A | ClinGen:CA124924671 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30502C>A | 324 | APC | Uncertain significance | rs1313658633 | RCV000540297; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043139 | 112043139 | C | A | NC_000005.9:g.112043139C>A | ClinGen:CA561890095 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30502C>T | 324 | APC | Uncertain significance | rs1313658633 | RCV000552792; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043139 | 112043139 | C | T | NC_000005.9:g.112043139C>T | ClinGen:CA658655876 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043139C>G | 324 | APC | Uncertain significance | rs1313658633 | RCV001348303; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043139 | 112043139 | C | G | 112043139 | - | | |
NM_000038.5(APC):c.-30501A>G | 324 | APC | Uncertain significance | rs911239343 | RCV000646569; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043140 | 112043140 | A | G | 5:g.112043140A>G | ClinGen:CA124924675 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30501A>T | 324 | APC | Uncertain significance | rs911239343 | RCV000646532; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043140 | 112043140 | A | T | NC_000005.9:g.112043140A>T | ClinGen:CA658796596 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30500T>C | 324 | APC | Uncertain significance | rs1213502095 | RCV000646605; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043141 | 112043141 | T | C | NC_000005.9:g.112043141T>C | ClinGen:CA658796597 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043141T>A | 324 | APC | Uncertain significance | rs1213502095 | RCV001308597; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043141 | 112043141 | T | A | 112043141 | - | | |
NC_000005.9:g.112043142A>G | 324 | APC | Uncertain significance | rs1750562759 | RCV001309011; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043142 | 112043142 | A | G | 112043142 | - | | |
NC_000005.9:g.112043144C>G | 324 | APC | Uncertain significance | rs1750562869 | RCV001323606; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043144 | 112043144 | C | G | 112043144 | - | | |
NM_000038.6(APC):c.-30496A>G | 324 | APC | Uncertain significance | rs1412978804 | RCV000813077; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043145 | 112043145 | A | G | 5:g.112043145A>G | - | | |
NM_000038.6(APC):c.-30495G>A | 324 | APC | Uncertain significance | rs1031191403 | RCV000796682; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043146 | 112043146 | G | A | 5:g.112043146G>A | - | | |
NC_000005.9:g.112043146G>T | 324 | APC | Uncertain significance | -1 | RCV002045660; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043146 | 112043146 | G | T | 112043146 | - | | |
NM_000038.5(APC):c.-30493C>T | 324 | APC | Likely benign | rs942777534 | RCV000532428; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043148 | 112043148 | C | T | 5:g.112043148C>T | ClinGen:CA124924686 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043148C>A | 324 | APC | Uncertain significance | rs942777534 | RCV001317863; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043148 | 112043148 | C | A | 112043148 | - | | |
NM_000038.5(APC):c.-30492T>C | 324 | APC | Uncertain significance | rs866427693 | RCV000646686; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043149 | 112043149 | T | C | 5:g.112043149T>C | ClinGen:CA124924689 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043150C>G | 324 | APC | Uncertain significance | -1 | RCV001909467; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043150 | 112043150 | C | G | 112043150 | - | | |
NC_000005.9:g.112043150C>T | 324 | APC | Uncertain significance | -1 | RCV001884066; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043150 | 112043150 | C | T | 112043150 | - | | |
NM_000038.5(APC):c.-30490T>C | 324 | APC | Uncertain significance | rs1280021363 | RCV000646612; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043151 | 112043151 | T | C | 5:g.112043151T>C | ClinGen:CA658796598 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.-30489A>C | 324 | APC | Uncertain significance | rs956500063 | RCV000806280; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043152 | 112043152 | A | C | 5:g.112043152A>C | - | | |
NC_000005.9:g.112043152A>G | 324 | APC | Uncertain significance | rs956500063 | RCV001305505; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043152 | 112043152 | A | G | 112043152 | - | | |
NC_000005.9:g.112043153G>T | 324 | APC | Uncertain significance | -1 | RCV002022275; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043153 | 112043153 | G | T | 112043153 | - | | |
NM_000038.5(APC):c.-30487T>C | 324 | APC | Uncertain significance | rs1312495728 | RCV000556365; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043154 | 112043154 | T | C | NC_000005.9:g.112043154T>C | ClinGen:CA658655877 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30487T>A | 324 | APC | Uncertain significance | rs1312495728 | RCV000646643; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043154 | 112043154 | T | A | 5:g.112043154T>A | ClinGen:CA658796599 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043154T>G | 324 | APC | Uncertain significance | -1 | RCV001879045; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043154 | 112043154 | T | G | 112043154 | - | | |
NM_000038.5(APC):c.-30486C>G | 324 | APC | Uncertain significance | rs748588164 | RCV000539378; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043155 | 112043155 | C | G | NC_000005.9:g.112043155C>G | ClinGen:CA124924699 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043155C>T | 324 | APC | Uncertain significance | rs748588164 | RCV001349728; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043155 | 112043155 | C | T | 112043155 | - | | |
NC_000005.9:g.112043156T>C | 324 | APC | Uncertain significance | -1 | RCV001362462; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043156 | 112043156 | T | C | 112043156 | - | | |
NM_000038.5(APC):c.-30484C>A | 324 | APC | Uncertain significance | rs1554060161 | RCV000646581; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043157 | 112043157 | C | A | 5:g.112043157C>A | ClinGen:CA658796600 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043157C>T | 324 | APC | Uncertain significance | -1 | RCV001940802; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043157 | 112043157 | C | T | 112043157 | - | | |
NC_000005.9:g.112043158C>T | 324 | APC | Uncertain significance | rs1360948145 | RCV001300737; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043158 | 112043158 | C | T | 112043158 | - | | |
NC_000005.9:g.112043158C>G | 324 | APC | Uncertain significance | -1 | RCV001362864; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043158 | 112043158 | C | G | 112043158 | - | | |
NM_000038.5(APC):c.-30482G>C | 324 | APC | Uncertain significance | rs1409487828 | RCV000526915; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043159 | 112043159 | G | C | 5:g.112043159G>C | ClinGen:CA658655878 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.-30482G>A | 324 | APC | Uncertain significance | rs1409487828 | RCV000816322; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043159 | 112043159 | G | A | 5:g.112043159G>A | - | | |
NM_000038.6(APC):c.-30481G>T | 324 | APC | Uncertain significance | rs1580995745 | RCV000818050; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043160 | 112043160 | G | T | 5:g.112043160G>T | - | | |
NM_000038.5(APC):c.-30479C>A | 324 | APC | Uncertain significance | rs1424887097 | RCV000646690; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043162 | 112043162 | C | A | NC_000005.9:g.112043162C>A | ClinGen:CA658796601 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043162C>T | 324 | APC | Uncertain significance | -1 | RCV001363118; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043162 | 112043162 | C | T | 112043162 | - | | |
NM_000038.5(APC):c.-30478T>C | 324 | APC | Uncertain significance | rs931845291 | RCV000550858; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043163 | 112043163 | T | C | NC_000005.9:g.112043163T>C | ClinGen:CA124924708 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043164G>C | 324 | APC | Uncertain significance | -1 | RCV002036758; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043164 | 112043164 | G | C | 112043164 | - | | |
NC_000005.9:g.112043164G>A | 324 | APC | Uncertain significance | -1 | RCV001975409; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043164 | 112043164 | G | A | 112043164 | - | | |
NM_000038.5(APC):c.-30476T>C | 324 | APC | Uncertain significance | rs538243333 | RCV000646537; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043165 | 112043165 | T | C | 5:g.112043165T>C | ClinGen:CA124924709 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30476T>G | 324 | APC | Uncertain significance | rs538243333 | RCV000646626; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043165 | 112043165 | T | G | NC_000005.9:g.112043165T>G | ClinGen:CA561890103 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043165T>A | 324 | APC | Uncertain significance | -1 | RCV001897709; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043165 | 112043165 | T | A | 112043165 | - | | |
NC_000005.9:g.112043166G>C | 324 | APC | Uncertain significance | rs1257302588 | RCV001308887; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043166 | 112043166 | G | C | 112043166 | - | | |
NC_000005.9:g.112043167G>A | 324 | APC | Uncertain significance | -1 | RCV001366282; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043167 | 112043167 | G | A | 112043167 | - | | |
NM_000038.5(APC):c.-30471A>C | 324 | APC | Benign | rs75580617 | RCV000430440|RCV000646587|RCV001810903; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112043170 | 112043170 | A | C | 5:g.112043170A>C | ClinGen:CA12120713 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30467A>C | 324 | APC | Benign | rs190326008 | RCV000526023; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043174 | 112043174 | A | C | 5:g.112043174A>C | ClinGen:CA658655879 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30467A>G | 324 | APC | Benign | rs190326008 | RCV000538385; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043174 | 112043174 | A | G | NC_000005.9:g.112043174A>G | ClinGen:CA124924764 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30467delA | 324 | APC | Benign | rs201014315 | RCV000601483|RCV000861801; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043174 | 112043174 | CA | C | NC_000005.9:g.112043174del | ClinGen:CA124924761 | CN169374 not specified; | |
NM_000038.5(APC):c.-30466G>C | 324 | APC | Benign | rs59923692 | RCV000550019|RCV000606361; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374 | 5 | 112043175 | 112043175 | G | C | 5:g.112043175G>C | ClinGen:CA124924769 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043175G>A | 324 | APC | Uncertain significance | rs59923692 | RCV001296122; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043175 | 112043175 | G | A | 112043175 | - | | |
NC_000005.9:g.112043175G>T | 324 | APC | Uncertain significance | rs59923692 | RCV001318900; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043175 | 112043175 | G | T | 112043175 | - | | |
NC_000005.9:g.112043175del | 324 | APC | Benign | -1 | RCV002218719; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043175 | 112043175 | AG | A | 112043174 | - | | |
NC_000005.9:g.112043176_112043178del | 324 | APC | Uncertain significance | rs1750567053 | RCV001305524; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043176 | 112043178 | GCAA | G | 112043175 | - | | |
NC_000005.9:g.112043176C>T | 324 | APC | Uncertain significance | -1 | RCV001360360; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043176 | 112043176 | C | T | 112043176 | - | | |
NC_000005.9:g.112043176C>G | 324 | APC | Uncertain significance | -1 | RCV001965627; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043176 | 112043176 | C | G | 112043176 | - | | |
NC_000005.9:g.112043177A>G | 324 | APC | Uncertain significance | rs1750567134 | RCV001343123; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043177 | 112043177 | A | G | 112043177 | - | | |
NM_000038.5(APC):c.-30460C>T | 324 | APC | Likely benign | rs145818737 | RCV000537525; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043181 | 112043181 | C | T | 5:g.112043181C>T | ClinGen:CA124924773 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30460C>G | 324 | APC | Uncertain significance | rs145818737 | RCV000646670; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043181 | 112043181 | C | G | 5:g.112043181C>G | ClinGen:CA658796602 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.5(APC):c.-30459C>T | 324 | APC | Uncertain significance | rs1333841760 | RCV000556955; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043182 | 112043182 | C | T | NC_000005.9:g.112043182C>T | ClinGen:CA658655880 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043182C>A | 324 | APC | Uncertain significance | rs1333841760 | RCV001306238; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043182 | 112043182 | C | A | 112043182 | - | | |
NC_000005.9:g.112043182C>G | 324 | APC | Uncertain significance | rs1333841760 | RCV001316721; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043182 | 112043182 | C | G | 112043182 | - | | |
NC_000005.9:g.112043182_112043183del | 324 | APC | Uncertain significance | -1 | RCV001896571; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043182 | 112043183 | CCT | C | 112043181 | - | | |
NM_000038.5(APC):c.-30458T>C | 324 | APC | Uncertain significance | rs1554060175 | RCV000549089; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043183 | 112043183 | T | C | NC_000005.9:g.112043183T>C | ClinGen:CA658655881 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043184C>G | 324 | APC | Uncertain significance | rs1750567665 | RCV001344799; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043184 | 112043184 | C | G | 112043184 | - | | |
NC_000005.9:g.112043184C>T | 324 | APC | Uncertain significance | -1 | RCV001366743; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043184 | 112043184 | C | T | 112043184 | - | | |
NC_000005.9:g.112043185T>C | 324 | APC | Uncertain significance | -1 | RCV002017008; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043185 | 112043185 | T | C | 112043185 | - | | |
NC_000005.9:g.112043186C>T | 324 | APC | Uncertain significance | -1 | RCV001995604; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043186 | 112043186 | C | T | 112043186 | - | | |
NM_000038.5(APC):c.-30453C>G | 324 | APC | Uncertain significance | rs1554060178 | RCV000536592; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043188 | 112043188 | C | G | NC_000005.9:g.112043188C>G | ClinGen:CA658655882 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.112043190C>T | 324 | APC | Uncertain significance | -1 | RCV001881339; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043190 | 112043190 | C | T | 112043190 | - | | |
NM_000038.6(APC):c.-30450A>G | 324 | APC | Uncertain significance | rs1293734316 | RCV000809203; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043191 | 112043191 | A | G | 5:g.112043191A>G | - | | |
NM_001127511.3(APC):c.-220G>A | 324 | APC | Uncertain significance | rs1381567636 | RCV000805417; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043195 | 112043195 | G | A | 5:g.112043195G>A | - | | |
NM_001127511.3(APC):c.-219C>T | 324 | APC | Likely benign | rs1178835678 | RCV000560546; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043196 | 112043196 | C | T | 5:g.112043196C>T | ClinGen:CA561890110 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-218A>G | 324 | APC | Uncertain significance | rs1554060180 | RCV000646571; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043197 | 112043197 | A | G | 5:g.112043197A>G | ClinGen:CA658796603 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-217T>C | 324 | APC | Uncertain significance | rs1750568152 | RCV001340837; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043198 | 112043198 | T | C | 112043198 | - | | |
NM_001127511.3(APC):c.-215G>A | 324 | APC | Uncertain significance | rs1750568226 | RCV001345742; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043200 | 112043200 | G | A | 112043200 | - | | |
APC deletion | 324 | APC | Pathogenic | -1 | RCV000000877; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043201 | 112181937 | na | na | | OMIM:611731.0042 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-214T>C | 324 | APC | Uncertain significance | rs1580995847 | RCV000820804; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043201 | 112043201 | T | C | 5:g.112043201T>C | - | | |
NM_001127511.3(APC):c.-213A>G | 324 | APC | Uncertain significance | rs1554060181 | RCV000646636; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043202 | 112043202 | A | G | NC_000005.9:g.112043202A>G | ClinGen:CA658796604 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-213A>T | 324 | APC | Uncertain significance | rs1554060181 | RCV000795000; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043202 | 112043202 | A | T | 5:g.112043202A>T | - | | |
NM_001127511.3(APC):c.-212G>A | 324 | APC | Uncertain significance | rs930090983 | RCV000543614; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043203 | 112043203 | G | A | 5:g.112043203G>A | ClinGen:CA124924783 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-210C>T | 324 | APC | Uncertain significance | -1 | RCV001362162; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043205 | 112043205 | C | T | 112043205 | - | | |
NM_001127511.3(APC):c.-208T>C | 324 | APC | Uncertain significance | rs1750568725 | RCV001307229; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043207 | 112043207 | T | C | 112043207 | - | | |
NM_001127511.3(APC):c.-206C>T | 324 | APC | Uncertain significance | -1 | RCV001372256; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043209 | 112043209 | C | T | 112043209 | - | | |
NM_001127511.3(APC):c.-205C>T | 324 | APC | Uncertain significance | rs1750569011 | RCV001315985; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043210 | 112043210 | C | T | 112043210 | - | | |
NM_001127511.3(APC):c.-205C>G | 324 | APC | Uncertain significance | rs1750569011 | RCV001340516; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043210 | 112043210 | C | G | 112043210 | - | | |
NM_001127511.3(APC):c.-204A>G | 324 | APC | Conflicting interpretations of pathogenicity | rs554351451 | RCV000535658|RCV000764556; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Onto | 5 | 112043211 | 112043211 | A | G | NC_000005.9:g.112043211A>G | ClinGen:CA124924789 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-203C>A | 324 | APC | Uncertain significance | -1 | RCV001368327; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043212 | 112043212 | C | A | 112043212 | - | | |
NM_001127511.3(APC):c.-203C>T | 324 | APC | Uncertain significance | -1 | RCV001359292; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043212 | 112043212 | C | T | 112043212 | - | | |
NM_001127511.3(APC):c.-201T>C | 324 | APC | Uncertain significance | rs1580995876 | RCV000818007; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043214 | 112043214 | T | C | 5:g.112043214T>C | - | | |
NM_001127511.3(APC):c.-200C>A | 324 | APC | Uncertain significance | rs1460379840 | RCV001323355; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043215 | 112043215 | C | A | 112043215 | - | | |
NM_001127511.3(APC):c.-200C>T | 324 | APC | Uncertain significance | -1 | RCV001372420; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043215 | 112043215 | C | T | 112043215 | - | | |
NM_001127511.3(APC):c.-199C>G | 324 | APC | Uncertain significance | -1 | RCV001361281; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043216 | 112043216 | C | G | 112043216 | - | | |
NM_001127511.3(APC):c.-199C>T | 324 | APC | Likely benign | -1 | RCV001437739; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043216 | 112043216 | C | T | 112043216 | - | | |
NM_001127511.3(APC):c.-197A>C | 324 | APC | Uncertain significance | rs1750570165 | RCV001302796; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043218 | 112043218 | A | C | 112043218 | - | | |
NM_001127511.3(APC):c.-197A>T | 324 | APC | Uncertain significance | rs1750570165 | RCV001327548; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043218 | 112043218 | A | T | 112043218 | - | | |
NM_001127511.3(APC):c.-197A>G | 324 | APC | Uncertain significance | -1 | RCV001365772; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043218 | 112043218 | A | G | 112043218 | - | | |
NM_001127511.3(APC):c.-196C>T | 324 | APC | Uncertain significance | -1 | RCV001374016; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043219 | 112043219 | C | T | 112043219 | - | | |
NM_001127511.3(APC):c.-193G>A | 324 | APC | Uncertain significance | rs1750570441 | RCV001180770|RCV001363069; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043222 | 112043222 | G | A | 5:g.112043222G>A | - | | |
NM_001127511.3(APC):c.-193G>C | 324 | APC | Uncertain significance | -1 | RCV001362461; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043222 | 112043222 | G | C | 112043222 | - | | |
NM_001127511.3(APC):c.-192A>G | 324 | APC | Likely pathogenic | rs879253784 | RCV000234977|RCV001290976|RCV001552789; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0017790,MedGen:C4749917,OMIM:619182, Orphanet:314022|MedGen:CN517202 | 5 | 112043223 | 112043223 | A | G | NC_000005.9:g.112043223A>G | ClinGen:CA10584053,OMIM:611731.0055 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-192A>T | 324 | APC | Pathogenic | rs879253784 | RCV000234988; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043223 | 112043223 | A | T | NC_000005.9:g.112043223A>T | ClinGen:CA10584054,OMIM:611731.0056 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-192_-191delinsTAGCAAGGG | 324 | APC | Likely pathogenic | rs1580995904 | RCV000808449; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043223 | 112043224 | AT | TAGCAAGGG | 5:g.112043223_112043224insAGCAAGGG | - | | |
NM_001127511.3(APC):c.-191T>C | 324 | APC | Pathogenic | rs879253783 | RCV000234996|RCV001013699|RCV001290975|RCV001559545; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017790,MedGen:C4749917,OMIM:619182, Orphanet:314022|MedGen:CN517202 | 5 | 112043224 | 112043224 | T | C | NC_000005.9:g.112043224T>C | ClinGen:CA10584052,OMIM:611731.0054 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-190G>A | 324 | APC | Pathogenic | rs879253785 | RCV000234994; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043225 | 112043225 | G | A | NC_000005.9:g.112043225G>A | ClinGen:CA10584055,OMIM:611731.0057 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-189G>A | 324 | APC | Uncertain significance | -1 | RCV002043144; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043226 | 112043226 | G | A | 112043226 | - | | |
NM_001127511.3(APC):c.-188C>T | 324 | APC | Conflicting interpretations of pathogenicity | rs761454123 | RCV000547204|RCV001524617; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112043227 | 112043227 | C | T | NC_000005.9:g.112043227C>T | ClinGen:CA124924833 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-188C>A | 324 | APC | Uncertain significance | -1 | RCV002048256; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043227 | 112043227 | C | A | 112043227 | - | | |
NM_001127511.3(APC):c.-187G>A | 324 | APC | Uncertain significance | rs1554060186 | RCV000530192|RCV001185228; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112043228 | 112043228 | G | A | NC_000005.9:g.112043228G>A | ClinGen:CA658655883 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-186G>T | 324 | APC | Uncertain significance | rs1554060187 | RCV000646673; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043229 | 112043229 | G | T | 5:g.112043229G>T | ClinGen:CA658796605 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-186G>A | 324 | APC | Uncertain significance | rs1554060187 | RCV001345503; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043229 | 112043229 | G | A | 112043229 | - | | |
NM_001127511.3(APC):c.-185A>C | 324 | APC | Uncertain significance | rs1433000483 | RCV001299896; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043230 | 112043230 | A | C | 112043230 | - | | |
NM_001127511.3(APC):c.-184G>C | 324 | APC | Uncertain significance | rs575784409 | RCV000554174; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043231 | 112043231 | G | C | 5:g.112043231G>C | ClinGen:CA124924854 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-184G>A | 324 | APC | Uncertain significance | rs575784409 | RCV001303319; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043231 | 112043231 | G | A | 112043231 | - | | |
NM_001127511.3(APC):c.-183G>A | 324 | APC | Uncertain significance | rs892252479 | RCV000806696; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043232 | 112043232 | G | A | 5:g.112043232G>A | - | | |
NM_001127511.3(APC):c.-182G>T | 324 | APC | Uncertain significance | rs1554060189 | RCV000529263; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043233 | 112043233 | G | T | NC_000005.9:g.112043233G>T | ClinGen:CA658655884 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-182G>A | 324 | APC | Uncertain significance | -1 | RCV001361723; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043233 | 112043233 | G | A | 112043233 | - | | |
NM_001127511.3(APC):c.-181C>T | 324 | APC | Benign/Likely benign | rs115658307 | RCV000553273|RCV000614459|RCV001811056; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MedGen:CN517202 | 5 | 112043234 | 112043234 | C | T | NC_000005.9:g.112043234C>T | ClinGen:CA124924856 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-180A>T | 324 | APC | Uncertain significance | -1 | RCV001369380; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043235 | 112043235 | A | T | 112043235 | - | | |
NM_001127511.3(APC):c.-179A>G | 324 | APC | Uncertain significance | -1 | RCV001919358; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043236 | 112043236 | A | G | 112043236 | - | | |
NM_001127511.3(APC):c.-178G>A | 324 | APC | Uncertain significance | rs1045323633 | RCV000646544; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043237 | 112043237 | G | A | 5:g.112043237G>A | ClinGen:CA124924858 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-178G>C | 324 | APC | Uncertain significance | -1 | RCV001366624; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043237 | 112043237 | G | C | 112043237 | - | | |
NM_001127511.3(APC):c.-177dup | 324 | APC | Uncertain significance | -1 | RCV001367509; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043237 | 112043238 | G | GT | 112043237 | - | | |
NM_001127511.3(APC):c.-177T>A | 324 | APC | Uncertain significance | rs1020491376 | RCV000540833; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043238 | 112043238 | T | A | 5:g.112043238T>A | ClinGen:CA658655885 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-177T>C | 324 | APC | Uncertain significance | rs1020491376 | RCV000646603; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043238 | 112043238 | T | C | NC_000005.9:g.112043238T>C | ClinGen:CA658796606 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-175G>C | 324 | APC | Uncertain significance | rs1334013498 | RCV001324703; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043240 | 112043240 | G | C | 112043240 | - | | |
NM_001127511.3(APC):c.-174C>A | 324 | APC | Uncertain significance | rs1580995974 | RCV000807200; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043241 | 112043241 | C | A | 5:g.112043241C>A | - | | |
NM_001127511.3(APC):c.-174C>T | 324 | APC | Uncertain significance | rs1580995974 | RCV001326635; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043241 | 112043241 | C | T | 112043241 | - | | |
NM_001127511.3(APC):c.-173A>G | 324 | APC | Uncertain significance | rs1273775271 | RCV000528391; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043242 | 112043242 | A | G | NC_000005.9:g.112043242A>G | ClinGen:CA658655886 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-172A>T | 324 | APC | Uncertain significance | rs1580995983 | RCV000792324; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043243 | 112043243 | A | T | 5:g.112043243A>T | - | | |
NM_001127511.3(APC):c.-167dup | 324 | APC | Benign | -1 | RCV001521009; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043243 | 112043244 | A | AG | 112043243 | - | | |
NM_001127511.3(APC):c.-171G>C | 324 | APC | Uncertain significance | rs968943120 | RCV000646576; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043244 | 112043244 | G | C | 5:g.112043244G>C | ClinGen:CA124924868 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-171G>A | 324 | APC | Uncertain significance | rs968943120 | RCV000798515; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043244 | 112043244 | G | A | 5:g.112043244G>A | - | | |
NM_001127511.3(APC):c.-171G>T | 324 | APC | Uncertain significance | rs968943120 | RCV001302806; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043244 | 112043244 | G | T | 112043244 | - | | |
NM_001127511.3(APC):c.-170G>C | 324 | APC | Uncertain significance | rs1000470082 | RCV000552392; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043245 | 112043245 | G | C | 5:g.112043245G>C | ClinGen:CA124924875 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-170G>T | 324 | APC | Uncertain significance | rs1000470082 | RCV001304929; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043245 | 112043245 | G | T | 112043245 | - | | |
NM_001127511.3(APC):c.-170G>A | 324 | APC | Uncertain significance | -1 | RCV001373613; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043245 | 112043245 | G | A | 112043245 | - | | |
NM_001127511.3(APC):c.-169G>A | 324 | APC | Uncertain significance | rs1750575005 | RCV001324118; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043246 | 112043246 | G | A | 112043246 | - | | |
NM_001127511.3(APC):c.-168G>A | 324 | APC | Uncertain significance | rs1554060194 | RCV000646596; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043247 | 112043247 | G | A | 5:g.112043247G>A | ClinGen:CA658796607 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-168G>T | 324 | APC | Uncertain significance | rs1554060194 | RCV001302234; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043247 | 112043247 | G | T | 112043247 | - | | |
NM_001127511.3(APC):c.-167G>A | 324 | APC | Uncertain significance | rs1278244063 | RCV000539909; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043248 | 112043248 | G | A | NC_000005.9:g.112043248G>A | ClinGen:CA561890248 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-166C>G | 324 | APC | Uncertain significance | rs904001781 | RCV000551432; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043249 | 112043249 | C | G | NC_000005.9:g.112043249C>G | ClinGen:CA658655887 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-166C>T | 324 | APC | Benign | rs904001781 | RCV000527458; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043249 | 112043249 | C | T | NC_000005.9:g.112043249C>T | ClinGen:CA124924880 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-166C>A | 324 | APC | Uncertain significance | rs904001781 | RCV000534399; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043249 | 112043249 | C | A | 5:g.112043249C>A | ClinGen:CA658655888 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-165G>A | 324 | APC | Uncertain significance | rs1580996027 | RCV000809435; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043250 | 112043250 | G | A | 5:g.112043250G>A | - | | |
NM_001127511.3(APC):c.-165G>C | 324 | APC | Uncertain significance | rs1580996027 | RCV001321643; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043250 | 112043250 | G | C | 112043250 | - | | |
NM_001127511.3(APC):c.-165G>T | 324 | APC | Uncertain significance | rs1580996027 | RCV001314742; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043250 | 112043250 | G | T | 112043250 | - | | |
NM_001127511.3(APC):c.-164G>A | 324 | APC | Uncertain significance | rs1750576080 | RCV001320136; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043251 | 112043251 | G | A | 112043251 | - | | |
NM_001127511.3(APC):c.-164G>C | 324 | APC | Uncertain significance | rs1750576080 | RCV001343771; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043251 | 112043251 | G | C | 112043251 | - | | |
NM_001127511.3(APC):c.-163G>A | 324 | APC | Uncertain significance | rs558562104 | RCV000646539; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043252 | 112043252 | G | A | 5:g.112043252G>A | ClinGen:CA124924885 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-163G>C | 324 | APC | Uncertain significance | rs558562104 | RCV001318360; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043252 | 112043252 | G | C | 112043252 | - | | |
NM_001127511.3(APC):c.-163G>T | 324 | APC | Uncertain significance | -1 | RCV001918352; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043252 | 112043252 | G | T | 112043252 | - | | |
NM_001127511.3(APC):c.-162G>A | 324 | APC | Uncertain significance | -1 | RCV002009056; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043253 | 112043253 | G | A | 112043253 | - | | |
NM_001127511.3(APC):c.-161T>A | 324 | APC | Uncertain significance | -1 | RCV001991140; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043254 | 112043254 | T | A | 112043254 | - | | |
NM_001127511.3(APC):c.-161T>C | 324 | APC | Uncertain significance | -1 | RCV002013927; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043254 | 112043254 | T | C | 112043254 | - | | |
NM_001127511.3(APC):c.-160G>A | 324 | APC | Uncertain significance | -1 | RCV001361231; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043255 | 112043255 | G | A | 112043255 | - | | |
NM_001127511.3(APC):c.-159T>C | 324 | APC | Uncertain significance | rs1750576513 | RCV001350673; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043256 | 112043256 | T | C | 112043256 | - | | |
NM_001127511.3(APC):c.-158G>C | 324 | APC | Uncertain significance | rs1750576619 | RCV001320007; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043257 | 112043257 | G | C | 112043257 | - | | |
NM_001127511.3(APC):c.-157G>A | 324 | APC | Uncertain significance | rs1554060197 | RCV000526505; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043258 | 112043258 | G | A | NC_000005.9:g.112043258G>A | ClinGen:CA658655889 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-156C>A | 324 | APC | Uncertain significance | rs1031181133 | RCV000646616; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043259 | 112043259 | C | A | NC_000005.9:g.112043259C>A | ClinGen:CA658796608 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-156C>T | 324 | APC | Uncertain significance | rs1031181133 | RCV000646625; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043259 | 112043259 | C | T | 5:g.112043259C>T | ClinGen:CA124924889 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-155C>A | 324 | APC | Uncertain significance | rs1750576936 | RCV001297397; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043260 | 112043260 | C | A | 112043260 | - | | |
NM_001127511.3(APC):c.-155C>T | 324 | APC | Uncertain significance | rs1750576936 | RCV001323662; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043260 | 112043260 | C | T | 112043260 | - | | |
NM_001127511.3(APC):c.-154G>C | 324 | APC | Uncertain significance | rs1750577100 | RCV001294634; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043261 | 112043261 | G | C | 112043261 | - | | |
NM_001127511.3(APC):c.-154G>A | 324 | APC | Uncertain significance | rs1750577100 | RCV001325552; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043261 | 112043261 | G | A | 112043261 | - | | |
NM_001127511.3(APC):c.-154G>T | 324 | APC | Uncertain significance | rs1750577100 | RCV001343031; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043261 | 112043261 | G | T | 112043261 | - | | |
NM_001127511.3(APC):c.-153C>T | 324 | APC | Uncertain significance | rs956623923 | RCV000806610; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043262 | 112043262 | C | T | 5:g.112043262C>T | - | | |
NM_001127511.3(APC):c.-152C>T | 324 | APC | Benign | rs138386816 | RCV000550553|RCV000616769|RCV002060337; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MedGen:CN517202 | 5 | 112043263 | 112043263 | C | T | 5:g.112043263C>T | ClinGen:CA124924898 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-151G>C | 324 | APC | Likely benign | rs1029997545 | RCV000538059; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043264 | 112043264 | G | C | NC_000005.9:g.112043264G>C | ClinGen:CA124924903 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-151G>A | 324 | APC | Uncertain significance | -1 | RCV001365609; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043264 | 112043264 | G | A | 112043264 | - | | |
NM_001127511.3(APC):c.-150G>A | 324 | APC | Uncertain significance | rs1459755551 | RCV000557474; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043265 | 112043265 | G | A | NC_000005.9:g.112043265G>A | ClinGen:CA658655890 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-150G>C | 324 | APC | Uncertain significance | rs1459755551 | RCV000816276; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043265 | 112043265 | G | C | 5:g.112043265G>C | - | | |
NM_001127511.3(APC):c.-149A>C | 324 | APC | Uncertain significance | rs922676017 | RCV000545084; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043266 | 112043266 | A | C | NC_000005.9:g.112043266A>C | ClinGen:CA124924908 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-148A>C | 324 | APC | Uncertain significance | rs953056092 | RCV000819026; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043267 | 112043267 | A | C | 5:g.112043267A>C | - | | |
NM_001127511.3(APC):c.-148A>G | 324 | APC | Uncertain significance | rs953056092 | RCV001348151; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043267 | 112043267 | A | G | 112043267 | - | | |
NM_001127511.3(APC):c.-148A>T | 324 | APC | Uncertain significance | rs953056092 | RCV001348176; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043267 | 112043267 | A | T | 112043267 | - | | |
NM_001127511.3(APC):c.-147G>A | 324 | APC | Likely benign | rs1208195997 | RCV000793187; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043268 | 112043268 | G | A | 5:g.112043268G>A | - | | |
NM_001127511.3(APC):c.-147G>T | 324 | APC | Uncertain significance | -1 | RCV001898946; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043268 | 112043268 | G | T | 112043268 | - | | |
NM_001127511.3(APC):c.-146C>T | 324 | APC | Uncertain significance | rs1554060206 | RCV000537140; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043269 | 112043269 | C | T | 5:g.112043269C>T | ClinGen:CA658655891 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-146C>G | 324 | APC | Uncertain significance | rs1554060206 | RCV001346980; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043269 | 112043269 | C | G | 112043269 | - | | |
NM_001127511.3(APC):c.-145C>G | 324 | APC | Uncertain significance | rs986030414 | RCV000646600; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043270 | 112043270 | C | G | 5:g.112043270C>G | ClinGen:CA124924910 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-145C>T | 324 | APC | Uncertain significance | rs986030414 | RCV000792927; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043270 | 112043270 | C | T | 5:g.112043270C>T | - | | |
NM_001127511.3(APC):c.-144T>G | 324 | APC | Uncertain significance | rs1717358972 | RCV001316485; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043271 | 112043271 | T | G | 112043271 | - | | |
NM_001127511.3(APC):c.-144T>C | 324 | APC | Uncertain significance | rs1717358972 | RCV001340331; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043271 | 112043271 | T | C | 112043271 | - | | |
NM_001127511.3(APC):c.-143A>G | 324 | APC | Uncertain significance | rs1750579345 | RCV001305624; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043272 | 112043272 | A | G | 112043272 | - | | |
NM_001127511.3(APC):c.-142G>C | 324 | APC | Uncertain significance | rs951500465 | RCV000793786; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043273 | 112043273 | G | C | 5:g.112043273G>C | - | | |
NM_001127511.3(APC):c.-142G>A | 324 | APC | Uncertain significance | rs951500465 | RCV001347250; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043273 | 112043273 | G | A | 112043273 | - | | |
NM_001127511.3(APC):c.-142G>T | 324 | APC | Uncertain significance | -1 | RCV001371139; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043273 | 112043273 | G | T | 112043273 | - | | |
NM_001127511.3(APC):c.-141C>T | 324 | APC | Uncertain significance | rs1750579738 | RCV001317237; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043274 | 112043274 | C | T | 112043274 | - | | |
NM_001127511.3(APC):c.-141C>G | 324 | APC | Uncertain significance | rs1750579738 | RCV001342724; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043274 | 112043274 | C | G | 112043274 | - | | |
NM_001127511.3(APC):c.-140C>G | 324 | APC | Conflicting interpretations of pathogenicity | rs775297664 | RCV000556539|RCV000762155; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112043275 | 112043275 | C | G | NC_000005.9:g.112043275C>G | ClinGen:CA124924916 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-140C>A | 324 | APC | Likely benign | rs775297664 | RCV000646695; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043275 | 112043275 | C | A | 5:g.112043275C>A | ClinGen:CA124924920 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-140C>T | 324 | APC | Uncertain significance | rs775297664 | RCV001347679; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043275 | 112043275 | C | T | 112043275 | - | | |
NM_001127511.3(APC):c.-139G>C | 324 | APC | Uncertain significance | rs1554060208 | RCV000544155; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043276 | 112043276 | G | C | NC_000005.9:g.112043276G>C | ClinGen:CA658655892 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-139G>A | 324 | APC | Uncertain significance | rs1554060208 | RCV001317238; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043276 | 112043276 | G | A | 112043276 | - | | |
NM_001127511.3(APC):c.-138C>A | 324 | APC | Uncertain significance | rs1259973377 | RCV001304051; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043277 | 112043277 | C | A | 112043277 | - | | |
NM_001127511.3(APC):c.-138C>G | 324 | APC | Uncertain significance | rs1259973377 | RCV001306956; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043277 | 112043277 | C | G | 112043277 | - | | |
NM_001127511.3(APC):c.-138C>T | 324 | APC | Uncertain significance | -1 | RCV001359776; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043277 | 112043277 | C | T | 112043277 | - | | |
NM_001127511.3(APC):c.-137T>C | 324 | APC | Uncertain significance | rs1750580599 | RCV001351131; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043278 | 112043278 | T | C | 112043278 | - | | |
NM_001127511.3(APC):c.-137T>G | 324 | APC | Uncertain significance | -1 | RCV001891606; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043278 | 112043278 | T | G | 112043278 | - | | |
NM_001127511.3(APC):c.-132_-114dup | 324 | APC | Uncertain significance | -1 | RCV001985374; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043278 | 112043279 | T | TGCTCGGGGGGGACCTGCGG | 112043278 | - | | |
NM_001127511.3(APC):c.-136G>C | 324 | APC | Uncertain significance | -1 | RCV001371993; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043279 | 112043279 | G | C | 112043279 | - | | |
NM_001127511.3(APC):c.-136G>A | 324 | APC | Uncertain significance | -1 | RCV002045160; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043279 | 112043279 | G | A | 112043279 | - | | |
NM_001127511.3(APC):c.-135C>T | 324 | APC | Uncertain significance | rs1311747020 | RCV000531681; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043280 | 112043280 | C | T | NC_000005.9:g.112043280C>T | ClinGen:CA658655893 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-135C>G | 324 | APC | Uncertain significance | rs1311747020 | RCV000646534; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043280 | 112043280 | C | G | 5:g.112043280C>G | ClinGen:CA658796609 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-134T>C | 324 | APC | Uncertain significance | rs963346102 | RCV000646574; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043281 | 112043281 | T | C | 5:g.112043281T>C | ClinGen:CA124924933 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-134T>A | 324 | APC | Uncertain significance | rs963346102 | RCV000646644; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043281 | 112043281 | T | A | 5:g.112043281T>A | ClinGen:CA658796610 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-134_-133insGGG | 324 | APC | Likely benign | rs1561393341 | RCV000794578; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043281 | 112043282 | T | TGGG | 5:g.112043281_112043282insGGG | - | | |
NM_001127511.3(APC):c.-134_-133insGGGG | 324 | APC | Uncertain significance | rs1561393341 | RCV001306608; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043281 | 112043282 | T | TGGGG | 112043281 | - | | |
NM_001127511.3(APC):c.-134_-133delinsCG | 324 | APC | Uncertain significance | rs1750581459 | RCV001321180; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043281 | 112043282 | TC | CG | 112043281 | - | | |
NM_001127511.3(APC):c.-133dup | 324 | APC | Uncertain significance | -1 | RCV001361945; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043281 | 112043282 | T | TC | 112043281 | - | | |
NM_001127511.3(APC):c.-134_-133insG | 324 | APC | Benign/Likely benign | -1 | RCV001519124|RCV001562980; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112043281 | 112043282 | T | TG | 112043281 | - | | |
NM_001127511.3(APC):c.-134_-133insGG | 324 | APC | Benign | -1 | RCV001516816; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043281 | 112043282 | T | TGG | 112043281 | - | | |
NM_001127511.3(APC):c.-134_-133insGC | 324 | APC | Uncertain significance | -1 | RCV001972938; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043281 | 112043282 | T | TGC | 112043281 | - | | |
NM_001127511.3(APC):c.-133C>G | 324 | APC | Benign | rs79896135 | RCV000441233|RCV000646588; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043282 | 112043282 | C | G | 5:g.112043282C>G | ClinGen:CA12132519 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-133C>T | 324 | APC | Likely benign | rs79896135 | RCV000555650; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043282 | 112043282 | C | T | 5:g.112043282C>T | ClinGen:CA124924944 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-133C>A | 324 | APC | Uncertain significance | rs79896135 | RCV000646624; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043282 | 112043282 | C | A | 5:g.112043282C>A | ClinGen:CA658796611 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-133_-132delinsGC | 324 | APC | Uncertain significance | rs1580996199 | RCV000824519; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043282 | 112043283 | CG | GC | NC_000005.9:g.112043282_112043283delinsGC | - | | |
NM_001127511.3(APC):c.-133_-132insA | 324 | APC | Uncertain significance | rs1750582620 | RCV001307724; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043282 | 112043283 | C | CA | 112043282 | - | | |
NM_001127511.3(APC):c.-133del | 324 | APC | Uncertain significance | rs371478422 | RCV001325809; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043282 | 112043282 | TC | T | 112043281 | - | | |
NM_001127511.3(APC):c.-133_-132delinsGA | 324 | APC | Uncertain significance | -1 | RCV001358953; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043282 | 112043283 | CG | GA | 112043282 | - | | |
NM_001127511.3(APC):c.-133_-131delinsGTC | 324 | APC | Uncertain significance | -1 | RCV001372328; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043282 | 112043284 | CGG | GTC | 112043282 | - | | |
NM_001127511.3(APC):c.-133_-132delinsGT | 324 | APC | Benign | -1 | RCV001510747; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043282 | 112043283 | CG | GT | 112043282 | - | | |
NM_001127511.3(APC):c.-127_-126dup | 324 | APC | Uncertain significance | -1 | RCV001877904; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043282 | 112043283 | C | CGG | 112043282 | - | | |
NM_001127511.3(APC):c.-132G>T | 324 | APC | Benign/Likely benign | rs182500056 | RCV000543232|RCV000611510; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374 | 5 | 112043283 | 112043283 | G | T | NC_000005.9:g.112043283G>T | ClinGen:CA124924948 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-132G>C | 324 | APC | Likely benign | rs182500056 | RCV000530763; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043283 | 112043283 | G | C | 5:g.112043283G>C | ClinGen:CA124924947 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-132G>A | 324 | APC | Uncertain significance | rs182500056 | RCV000646608; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043283 | 112043283 | G | A | NC_000005.9:g.112043283G>A | ClinGen:CA658796612 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-132_-131insC | 324 | APC | Uncertain significance | -1 | RCV001361356; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043283 | 112043284 | G | GC | 112043283 | - | | |
NM_001127511.3(APC):c.-132_-131insT | 324 | APC | Likely benign | -1 | RCV001396129; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043283 | 112043284 | G | GT | 112043283 | - | | |
NM_001127511.3(APC):c.-131G>A | 324 | APC | Benign | rs572582235 | RCV000525297; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043284 | 112043284 | G | A | NC_000005.9:g.112043284G>A | ClinGen:CA124924960 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-131G>C | 324 | APC | Likely benign | rs572582235 | RCV000542278; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043284 | 112043284 | G | C | NC_000005.9:g.112043284G>C | ClinGen:CA124924962 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-131G>T | 324 | APC | Benign | rs572582235 | RCV000554731; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043284 | 112043284 | G | T | NC_000005.9:g.112043284G>T | ClinGen:CA124924963 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-131_-130insT | 324 | APC | Uncertain significance | rs1750583446 | RCV001299755; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043284 | 112043285 | G | GT | 112043284 | - | | |
NM_001127511.3(APC):c.-131_-130insC | 324 | APC | Uncertain significance | -1 | RCV001363228; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043284 | 112043285 | G | GC | 112043284 | - | | |
NM_001127511.3(APC):c.-130G>C | 324 | APC | Likely benign | rs1056513509 | RCV000541367; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043285 | 112043285 | G | C | NC_000005.9:g.112043285G>C | ClinGen:CA124924964 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-130G>T | 324 | APC | Uncertain significance | rs1056513509 | RCV000553831; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043285 | 112043285 | G | T | NC_000005.9:g.112043285G>T | ClinGen:CA124924965 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-130G>A | 324 | APC | Uncertain significance | rs1056513509 | RCV001304288; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043285 | 112043285 | G | A | 112043285 | - | | |
NM_001127511.3(APC):c.-129G>A | 324 | APC | Uncertain significance | rs1750583768 | RCV001349247; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043286 | 112043286 | G | A | 112043286 | - | | |
NM_001127511.3(APC):c.-124_-104dup | 324 | APC | Uncertain significance | -1 | RCV001368749; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043286 | 112043287 | G | GGGGACCTGCGGGCTCAGGCCC | 112043286 | - | | |
NM_001127511.3(APC):c.-128G>C | 324 | APC | Conflicting interpretations of pathogenicity | rs543098847 | RCV000528919|RCV000764557; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Onto | 5 | 112043287 | 112043287 | G | C | 5:g.112043287G>C | ClinGen:CA124924970 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-128G>A | 324 | APC | Uncertain significance | rs543098847 | RCV001342220; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043287 | 112043287 | G | A | 112043287 | - | | |
NM_001127511.3(APC):c.-128G>T | 324 | APC | Uncertain significance | rs543098847 | RCV001348677; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043287 | 112043287 | G | T | 112043287 | - | | |
NM_001127511.3(APC):c.-128_-127delinsTT | 324 | APC | Uncertain significance | -1 | RCV001931280; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043287 | 112043288 | GG | TT | 112043287 | - | | |
NM_001127511.3(APC):c.-127G>T | 324 | APC | Uncertain significance | rs1235543350 | RCV000818383; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043288 | 112043288 | G | T | 5:g.112043288G>T | - | | |
NM_001127511.3(APC):c.-127G>A | 324 | APC | Uncertain significance | -1 | RCV001971955; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043288 | 112043288 | G | A | 112043288 | - | | |
NM_001127511.3(APC):c.-127G>C | 324 | APC | Uncertain significance | -1 | RCV001939053; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043288 | 112043288 | G | C | 112043288 | - | | |
NM_001127511.3(APC):c.-126G>A | 324 | APC | Uncertain significance | rs948080320 | RCV000535873|RCV001805183; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112043289 | 112043289 | G | A | NC_000005.9:g.112043289G>A | ClinGen:CA124924998 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-126G>T | 324 | APC | Conflicting interpretations of pathogenicity | rs948080320 | RCV000548369|RCV001183244|RCV001704678; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112043289 | 112043289 | G | T | NC_000005.9:g.112043289G>T | ClinGen:CA124925003 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-126dup | 324 | APC | Benign/Likely benign | rs565045828 | RCV000861619|RCV001547554; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112043289 | 112043289 | C | CG | 5:g.112043282_112043283insG | ClinGen:CA124924946 | CN169374 not specified; | |
NM_001127511.3(APC):c.-126G>C | 324 | APC | Uncertain significance | rs948080320 | RCV000646530|RCV001561386; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112043289 | 112043289 | G | C | 5:g.112043289G>C | ClinGen:CA124925002 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-126del | 324 | APC | Uncertain significance | rs565045828 | RCV000807787; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043289 | 112043289 | CG | C | 5:g.112043283_112043283del | - | | |
NM_001127511.3(APC):c.-126_-125insT | 324 | APC | Uncertain significance | rs1750584693 | RCV001300520; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043289 | 112043290 | G | GT | 112043289 | - | | |
NM_001127511.3(APC):c.-125A>T | 324 | APC | Uncertain significance | rs1045063324 | RCV000646651; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043290 | 112043290 | A | T | 5:g.112043290A>T | ClinGen:CA124925009 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-125A>C | 324 | APC | Uncertain significance | rs1045063324 | RCV001303581|RCV001751583; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112043290 | 112043290 | A | C | 112043290 | - | | |
NM_001127511.3(APC):c.-124C>G | 324 | APC | Benign | rs964366695 | RCV000528009; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043291 | 112043291 | C | G | NC_000005.9:g.112043291C>G | ClinGen:CA658655894 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-124C>T | 324 | APC | Uncertain significance | rs964366695 | RCV000646661; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043291 | 112043291 | C | T | 5:g.112043291C>T | ClinGen:CA124925012 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-123C>T | 324 | APC | Uncertain significance | rs185346146 | RCV000646663; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043292 | 112043292 | C | T | NC_000005.9:g.112043292C>T | ClinGen:CA124925015 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-123C>G | 324 | APC | Uncertain significance | -1 | RCV001984128; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043292 | 112043292 | C | G | 112043292 | - | | |
NM_001127511.3(APC):c.-122T>G | 324 | APC | Uncertain significance | -1 | RCV001910879; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043293 | 112043293 | T | G | 112043293 | - | | |
NM_001127511.3(APC):c.-121G>C | 324 | APC | Uncertain significance | rs1173776603 | RCV000551717; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043294 | 112043294 | G | C | NC_000005.9:g.112043294G>C | ClinGen:CA658655895 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-120C>T | 324 | APC | Uncertain significance | rs904073379 | RCV000536831; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043295 | 112043295 | C | T | NC_000005.9:g.112043295C>T | ClinGen:CA124925018 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-119G>A | 324 | APC | Uncertain significance | rs1460028540 | RCV000558365; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043296 | 112043296 | G | A | NC_000005.9:g.112043296G>A | ClinGen:CA658655896 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-119G>C | 324 | APC | Uncertain significance | rs1460028540 | RCV000813148; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043296 | 112043296 | G | C | 5:g.112043296G>C | - | | |
NM_001127511.3(APC):c.-118G>T | 324 | APC | Uncertain significance | rs1372371966 | RCV000646541; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043297 | 112043297 | G | T | 5:g.112043297G>T | ClinGen:CA658796613 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-117_-97del | 324 | APC | Uncertain significance | rs1433763412 | RCV000810346; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043298 | 112043318 | CCTGCGGGCTCAGGCCCGGGAG | C | 5:g.112043292_112043312del | - | | |
NM_001127511.3(APC):c.-116C>T | 324 | APC | Uncertain significance | rs1750586844 | RCV001315146; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043299 | 112043299 | C | T | 112043299 | - | | |
NM_001127511.3(APC):c.-116C>G | 324 | APC | Uncertain significance | rs1750586844 | RCV001342073; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043299 | 112043299 | C | G | 112043299 | - | | |
NM_001127511.3(APC):c.-115T>C | 324 | APC | Uncertain significance | rs1580996349 | RCV000793940; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043300 | 112043300 | T | C | 5:g.112043300T>C | - | | |
NM_001127511.3(APC):c.-114C>G | 324 | APC | Uncertain significance | rs1452815000 | RCV000800259; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043301 | 112043301 | C | G | 5:g.112043301C>G | - | | |
NM_001127511.3(APC):c.-114C>A | 324 | APC | Uncertain significance | rs1452815000 | RCV001326051; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043301 | 112043301 | C | A | 112043301 | - | | |
NM_001127511.3(APC):c.-113A>G | 324 | APC | Uncertain significance | rs1052992527 | RCV000548108; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043302 | 112043302 | A | G | 5:g.112043302A>G | ClinGen:CA124925024 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-113A>C | 324 | APC | Uncertain significance | -1 | RCV001368818; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043302 | 112043302 | A | C | 112043302 | - | | |
NM_001127511.3(APC):c.-112G>A | 324 | APC | Uncertain significance | rs1750587562 | RCV001317414; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043303 | 112043303 | G | A | 112043303 | - | | |
NM_001127511.3(APC):c.-111G>A | 324 | APC | Uncertain significance | rs1750587691 | RCV001338654; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043304 | 112043304 | G | A | 112043304 | - | | |
NM_001127511.3(APC):c.-110C>T | 324 | APC | Uncertain significance | rs1029692674 | RCV000646561; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043305 | 112043305 | C | T | 5:g.112043305C>T | ClinGen:CA124925027 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-109C>G | 324 | APC | Benign | rs761634030 | RCV000537737; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043306 | 112043306 | C | G | NC_000005.9:g.112043306C>G | ClinGen:CA124925030 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-109C>A | 324 | APC | Uncertain significance | rs761634030 | RCV000804732; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043306 | 112043306 | C | A | 5:g.112043306C>A | - | | |
NM_001127511.3(APC):c.-109_-108delinsTG | 324 | APC | Uncertain significance | rs1750588164 | RCV001297588; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043306 | 112043307 | CC | TG | 112043306 | - | | |
NM_001127511.3(APC):c.-109C>T | 324 | APC | Uncertain significance | -1 | RCV001943010; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043306 | 112043306 | C | T | 112043306 | - | | |
NM_001127511.3(APC):c.-108C>G | 324 | APC | Uncertain significance | rs561513597 | RCV000559288; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043307 | 112043307 | C | G | NC_000005.9:g.112043307C>G | ClinGen:CA124925037 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-108C>T | 324 | APC | Uncertain significance | rs561513597 | RCV000646599; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043307 | 112043307 | C | T | 5:g.112043307C>T | ClinGen:CA658796614 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-108C>A | 324 | APC | Uncertain significance | rs561513597 | RCV000799022; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043307 | 112043307 | C | A | 5:g.112043307C>A | - | | |
NM_001127511.3(APC):c.-107G>A | 324 | APC | Uncertain significance | -1 | RCV002009026; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043308 | 112043308 | G | A | 112043308 | - | | |
NM_001127511.3(APC):c.-105G>C | 324 | APC | Uncertain significance | rs1337548978 | RCV000807170; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043310 | 112043310 | G | C | 5:g.112043310G>C | - | | |
NM_001127511.3(APC):c.-105G>A | 324 | APC | Uncertain significance | -1 | RCV001373507; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043310 | 112043310 | G | A | 112043310 | - | | |
NM_001127511.3(APC):c.-104A>T | 324 | APC | Uncertain significance | rs909684637 | RCV001318275; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043311 | 112043311 | A | T | 112043311 | - | | |
NM_001127511.3(APC):c.-103G>C | 324 | APC | Uncertain significance | -1 | RCV001372232; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043312 | 112043312 | G | C | 112043312 | - | | |
NM_001127511.3(APC):c.-102C>T | 324 | APC | Uncertain significance | -1 | RCV001365106; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043313 | 112043313 | C | T | 112043313 | - | | |
NM_001127511.3(APC):c.-101T>G | 324 | APC | Uncertain significance | -1 | RCV001904287; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043314 | 112043314 | T | G | 112043314 | - | | |
NM_001127511.3(APC):c.-100G>A | 324 | APC | Uncertain significance | -1 | RCV002026601; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043315 | 112043315 | G | A | 112043315 | - | | |
NM_001127511.3(APC):c.-98G>A | 324 | APC | Uncertain significance | rs997256982 | RCV000544478; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043317 | 112043317 | G | A | NC_000005.9:g.112043317G>A | ClinGen:CA124925040 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-96A>C | 324 | APC | Uncertain significance | rs1411710258 | RCV000529573; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043319 | 112043319 | A | C | 5:g.112043319A>C | ClinGen:CA658655897 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-95C>T | 324 | APC | Uncertain significance | -1 | RCV001901772; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043320 | 112043320 | C | T | 112043320 | - | | |
NM_001127511.3(APC):c.-95C>G | 324 | APC | Uncertain significance | -1 | RCV002024847; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043320 | 112043320 | C | G | 112043320 | - | | |
NM_001127511.3(APC):c.-94C>A | 324 | APC | Uncertain significance | rs1219858068 | RCV001296621; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043321 | 112043321 | C | A | 112043321 | - | | |
NM_001127511.3(APC):c.-94C>T | 324 | APC | Uncertain significance | -1 | RCV001366878; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043321 | 112043321 | C | T | 112043321 | - | | |
NM_001127511.3(APC):c.-93G>A | 324 | APC | Uncertain significance | -1 | RCV002014115; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043322 | 112043322 | G | A | 112043322 | - | | |
NM_001127511.3(APC):c.-92A>G | 324 | APC | Uncertain significance | rs1750589682 | RCV001295883; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043323 | 112043323 | A | G | 112043323 | - | | |
NM_001127511.3(APC):c.-92A>T | 324 | APC | Uncertain significance | rs1750589682 | RCV001302403; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043323 | 112043323 | A | T | 112043323 | - | | |
NM_001127511.3(APC):c.-91G>C | 324 | APC | Uncertain significance | rs1400212160 | RCV000818339; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043324 | 112043324 | G | C | 5:g.112043324G>C | - | | |
NM_001127511.3(APC):c.-91G>A | 324 | APC | Uncertain significance | -1 | RCV001361389; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043324 | 112043324 | G | A | 112043324 | - | | |
NM_001127511.3(APC):c.-90G>T | 324 | APC | Uncertain significance | rs1750590013 | RCV001300036; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043325 | 112043325 | G | T | 112043325 | - | | |
NM_001127511.3(APC):c.-90G>A | 324 | APC | Uncertain significance | rs1750590013 | RCV001320645; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043325 | 112043325 | G | A | 112043325 | - | | |
NM_001127511.3(APC):c.-89T>G | 324 | APC | Uncertain significance | rs1030112006 | RCV001347202; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043326 | 112043326 | T | G | 112043326 | - | | |
NM_001127511.3(APC):c.-88T>G | 324 | APC | Uncertain significance | rs531931776 | RCV001308460; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043327 | 112043327 | T | G | 112043327 | - | | |
NM_001127511.3(APC):c.-87G>A | 324 | APC | Uncertain significance | -1 | RCV001359543; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043328 | 112043328 | G | A | 112043328 | - | | |
NM_001127511.3(APC):c.-86G>C | 324 | APC | Uncertain significance | rs926522652 | RCV000646691; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043329 | 112043329 | G | C | 5:g.112043329G>C | ClinGen:CA561890258 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-86G>A | 324 | APC | Uncertain significance | -1 | RCV001363517; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043329 | 112043329 | G | A | 112043329 | - | | |
NM_001127511.3(APC):c.-85C>T | 324 | APC | Uncertain significance | rs1750590870 | RCV001317680; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043330 | 112043330 | C | T | 112043330 | - | | |
NM_001127511.3(APC):c.-85C>A | 324 | APC | Uncertain significance | -1 | RCV002005917; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043330 | 112043330 | C | A | 112043330 | - | | |
NM_001127511.3(APC):c.-84T>C | 324 | APC | Uncertain significance | rs1340630542 | RCV000646611; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043331 | 112043331 | T | C | NC_000005.9:g.112043331T>C | ClinGen:CA561890259 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-83C>A | 324 | APC | Uncertain significance | rs1306105402 | RCV000545384; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043332 | 112043332 | C | A | NC_000005.9:g.112043332C>A | ClinGen:CA658655898 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-83C>T | 324 | APC | Uncertain significance | rs1306105402 | RCV000560201; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043332 | 112043332 | C | T | NC_000005.9:g.112043332C>T | ClinGen:CA561890261 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-83del | 324 | APC | Likely benign | rs1561393532 | RCV000804757; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043332 | 112043332 | TC | T | 5:g.112043332_112043332del | - | | |
NM_001127511.3(APC):c.-83C>G | 324 | APC | Uncertain significance | rs1306105402 | RCV000807582; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043332 | 112043332 | C | G | 5:g.112043332C>G | - | | |
NM_001127511.3(APC):c.-82G>T | 324 | APC | Uncertain significance | rs1750591561 | RCV001308901; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043333 | 112043333 | G | T | 112043333 | - | | |
NM_001127511.3(APC):c.-82G>A | 324 | APC | Uncertain significance | rs1750591561 | RCV001347553; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043333 | 112043333 | G | A | 112043333 | - | | |
NM_001127511.3(APC):c.-81A>G | 324 | APC | Uncertain significance | rs1395227226 | RCV001294381; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043334 | 112043334 | A | G | 112043334 | - | | |
NM_001127511.3(APC):c.-79G>A | 324 | APC | Uncertain significance | rs1369181601 | RCV000530496; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043336 | 112043336 | G | A | NC_000005.9:g.112043336G>A | ClinGen:CA561890262 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-79G>T | 324 | APC | Uncertain significance | rs1369181601 | RCV001300865; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043336 | 112043336 | G | T | 112043336 | - | | |
NM_001127511.3(APC):c.-78C>T | 324 | APC | Likely benign | rs953008592 | RCV000552073; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043337 | 112043337 | C | T | 5:g.112043337C>T | ClinGen:CA124925056 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-78C>G | 324 | APC | Uncertain significance | rs953008592 | RCV001349602; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043337 | 112043337 | C | G | 112043337 | - | | |
NM_001127511.3(APC):c.-77T>C | 324 | APC | Uncertain significance | -1 | RCV001372301; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043338 | 112043338 | T | C | 112043338 | - | | |
NM_001127511.3(APC):c.-76G>T | 324 | APC | Uncertain significance | rs1750592062 | RCV001348932; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043339 | 112043339 | G | T | 112043339 | - | | |
NM_001127511.3(APC):c.-74T>C | 324 | APC | Uncertain significance | rs1554060234 | RCV000541706; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043341 | 112043341 | T | C | 5:g.112043341T>C | ClinGen:CA658655899 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-73C>G | 324 | APC | Uncertain significance | rs1415610352 | RCV000531395; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043342 | 112043342 | C | G | NC_000005.9:g.112043342C>G | ClinGen:CA658655900 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-71del | 324 | APC | Uncertain significance | rs1750592547 | RCV001347736; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043342 | 112043342 | TC | T | 112043341 | - | | |
NM_001127511.3(APC):c.-72C>A | 324 | APC | Uncertain significance | -1 | RCV001363372; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043343 | 112043343 | C | A | 112043343 | - | | |
NM_001127511.3(APC):c.-71C>T | 324 | APC | Uncertain significance | rs544132569 | RCV000552986; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043344 | 112043344 | C | T | 5:g.112043344C>T | ClinGen:CA124925059 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-70A>C | 324 | APC | Uncertain significance | rs1580996503 | RCV000823709; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043345 | 112043345 | A | C | 5:g.112043345A>C | - | | |
NM_001127511.3(APC):c.-70A>G | 324 | APC | Uncertain significance | -1 | RCV001372522; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043345 | 112043345 | A | G | 112043345 | - | | |
NM_001127511.3(APC):c.-69G>C | 324 | APC | Uncertain significance | -1 | RCV001945727; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043346 | 112043346 | G | C | 112043346 | - | | |
NM_001127511.3(APC):c.-69G>A | 324 | APC | Uncertain significance | -1 | RCV002015926; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043346 | 112043346 | G | A | 112043346 | - | | |
NM_001127511.3(APC):c.-68G>A | 324 | APC | Uncertain significance | rs1163893701 | RCV000542632; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043347 | 112043347 | G | A | 5:g.112043347G>A | ClinGen:CA658655901 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-68G>C | 324 | APC | Uncertain significance | rs1163893701 | RCV000794432; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043347 | 112043347 | G | C | 5:g.112043347G>C | - | | |
NM_001127511.3(APC):c.-65C>T | 324 | APC | Uncertain significance | rs1473007055 | RCV000527765; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043350 | 112043350 | C | T | NC_000005.9:g.112043350C>T | ClinGen:CA658655902 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-65_-64del | 324 | APC | Uncertain significance | rs1580996531 | RCV000801098; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043350 | 112043351 | ACT | A | 5:g.112043350_112043351del | - | | |
NM_001127511.3(APC):c.-64T>C | 324 | APC | Uncertain significance | rs1554060239 | RCV000549372; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043351 | 112043351 | T | C | NC_000005.9:g.112043351T>C | ClinGen:CA658655903 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-62TTG[1] | 324 | APC | Uncertain significance | rs1750593628 | RCV001304629; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043351 | 112043353 | CTGT | C | 112043350 | - | | |
NM_001127511.3(APC):c.-63G>A | 324 | APC | Uncertain significance | rs1369215546 | RCV001300279; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043352 | 112043352 | G | A | 112043352 | - | | |
NM_001127511.3(APC):c.-63G>C | 324 | APC | Uncertain significance | -1 | RCV001362239; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043352 | 112043352 | G | C | 112043352 | - | | |
NM_001127511.3(APC):c.-61T>C | 324 | APC | Uncertain significance | rs1554060241 | RCV000646610; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043354 | 112043354 | T | C | NC_000005.9:g.112043354T>C | ClinGen:CA658796615 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-61T>A | 324 | APC | Uncertain significance | -1 | RCV002041983; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043354 | 112043354 | T | A | 112043354 | - | | |
NM_001127511.3(APC):c.-60G>A | 324 | APC | Uncertain significance | rs1580996554 | RCV000794015; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043355 | 112043355 | G | A | 5:g.112043355G>A | - | | |
NM_001127511.3(APC):c.-60G>C | 324 | APC | Uncertain significance | -1 | RCV001359942; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043355 | 112043355 | G | C | 112043355 | - | | |
NM_001127511.3(APC):c.-59T>C | 324 | APC | Uncertain significance | rs1554060243 | RCV000646593; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043356 | 112043356 | T | C | 5:g.112043356T>C | ClinGen:CA658796616 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-59T>A | 324 | APC | Uncertain significance | rs1554060243 | RCV001304436; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043356 | 112043356 | T | A | 112043356 | - | | |
NM_001127511.3(APC):c.-56_-47dup | 324 | APC | Uncertain significance | rs1750594271 | RCV001307715; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043356 | 112043357 | T | TTGGCTGTTGG | 112043356 | - | | |
NM_001127511.3(APC):c.-58T>C | 324 | APC | Uncertain significance | -1 | RCV002001173; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043357 | 112043357 | T | C | 112043357 | - | | |
NM_001127511.3(APC):c.-57G>A | 324 | APC | Uncertain significance | rs1580996569 | RCV000810825; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043358 | 112043358 | G | A | 5:g.112043358G>A | - | | |
NM_001127511.3(APC):c.-56G>C | 324 | APC | Uncertain significance | -1 | RCV001359222; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043359 | 112043359 | G | C | 112043359 | - | | |
NM_001127511.3(APC):c.-55C>T | 324 | APC | Likely benign | rs1189950358 | RCV000538998; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043360 | 112043360 | C | T | NC_000005.9:g.112043360C>T | ClinGen:CA658655904 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-53G>A | 324 | APC | Uncertain significance | rs1750595145 | RCV001326446; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043362 | 112043362 | G | A | 112043362 | - | | |
NM_001127511.3(APC):c.-50G>C | 324 | APC | Uncertain significance | rs778974265 | RCV001312951; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043365 | 112043365 | G | C | 112043365 | - | | |
NM_001127511.3(APC):c.-47G>A | 324 | APC | Uncertain significance | rs1750595339 | RCV001305396; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043368 | 112043368 | G | A | 112043368 | - | | |
NM_001127511.3(APC):c.-46A>G | 324 | APC | Uncertain significance | rs1750595463 | RCV001307591; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043369 | 112043369 | A | G | 112043369 | - | | |
NM_001127511.3(APC):c.-44G>A | 324 | APC | Uncertain significance | rs1162218041 | RCV001337953; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043371 | 112043371 | G | A | 112043371 | - | | |
NM_001127511.3(APC):c.-41G>T | 324 | APC | Likely benign | rs748454058 | RCV000528691; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043374 | 112043374 | G | T | 5:g.112043374G>T | ClinGen:CA058285 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-41G>A | 324 | APC | Uncertain significance | -1 | RCV001365080; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043374 | 112043374 | G | A | 112043374 | - | | |
NM_001127511.3(APC):c.-41G>C | 324 | APC | Uncertain significance | -1 | RCV001970789; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043374 | 112043374 | G | C | 112043374 | - | | |
NM_001127511.3(APC):c.-40G>A | 324 | APC | Uncertain significance | rs1750595782 | RCV001299226; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043375 | 112043375 | G | A | 112043375 | - | | |
NM_001127511.3(APC):c.-39T>A | 324 | APC | Uncertain significance | rs1466692709 | RCV000646667; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043376 | 112043376 | T | A | NC_000005.9:g.112043376T>A | ClinGen:CA561890264 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-39T>C | 324 | APC | Uncertain significance | rs1466692709 | RCV001349272; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043376 | 112043376 | T | C | 112043376 | - | | |
NM_001127511.3(APC):c.-36dup | 324 | APC | Uncertain significance | -1 | RCV001945110; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043377 | 112043378 | G | GA | 112043377 | - | | |
NM_001127511.3(APC):c.-36A>G | 324 | APC | Uncertain significance | -1 | RCV001371997; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043379 | 112043379 | A | G | 112043379 | - | | |
NM_001127511.3(APC):c.-35G>C | 324 | APC | Uncertain significance | -1 | RCV001371765; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043380 | 112043380 | G | C | 112043380 | - | | |
NM_001127511.3(APC):c.-34C>T | 324 | APC | Uncertain significance | rs1376128351 | RCV000550248; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043381 | 112043381 | C | T | 5:g.112043381C>T | ClinGen:CA561890266 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-33A>T | 324 | APC | Uncertain significance | rs758576717 | RCV001344900; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043382 | 112043382 | A | T | 112043382 | - | | |
NM_001127511.3(APC):c.-32C>T | 324 | APC | Uncertain significance | rs1015952631 | RCV000646660; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043383 | 112043383 | C | T | NC_000005.9:g.112043383C>T | ClinGen:CA124925068 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-32del | 324 | APC | Uncertain significance | rs1750596841 | RCV001303567; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043383 | 112043383 | AC | A | 112043382 | - | | |
NM_001127511.3(APC):c.-31T>G | 324 | APC | Benign | rs78429131 | RCV000507288|RCV001512459|RCV001712464; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112043384 | 112043384 | T | G | 5:g.112043384T>G | ClinGen:CA057801 | CN169374 not specified; | |
NM_001127511.3(APC):c.-29_-24dup | 324 | APC | Uncertain significance | -1 | RCV001875470; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043384 | 112043385 | T | TCAGTTG | 112043384 | - | | |
NM_001127511.3(APC):c.-31T>C | 324 | APC | Uncertain significance | -1 | RCV001996804; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043384 | 112043384 | T | C | 112043384 | - | | |
NM_001127511.3(APC):c.-29A>G | 324 | APC | Uncertain significance | rs1750597287 | RCV001350726; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043386 | 112043386 | A | G | 112043386 | - | | |
NM_001127511.3(APC):c.-28G>A | 324 | APC | Uncertain significance | rs1580996638 | RCV000801587; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043387 | 112043387 | G | A | 5:g.112043387G>A | - | | |
NM_001127511.3(APC):c.-28G>T | 324 | APC | Uncertain significance | rs1580996638 | RCV001297784; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043387 | 112043387 | G | T | 112043387 | - | | |
NM_001127511.3(APC):c.-25G>A | 324 | APC | Uncertain significance | -1 | RCV001918589; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043390 | 112043390 | G | A | 112043390 | - | | |
NM_001127511.3(APC):c.-22T>G | 324 | APC | Uncertain significance | rs765199134 | RCV000808549; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043393 | 112043393 | T | G | 5:g.112043393T>G | - | | |
NM_001127511.3(APC):c.-21T>G | 324 | APC | Uncertain significance | rs1750597924 | RCV001299510; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043394 | 112043394 | T | G | 112043394 | - | | |
NM_001127511.3(APC):c.-20C>A | 324 | APC | Uncertain significance | -1 | RCV001988817; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043395 | 112043395 | C | A | 112043395 | - | | |
NM_001127511.3(APC):c.-18C>G | 324 | APC | Uncertain significance | rs1357561329 | RCV000646640; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043397 | 112043397 | C | G | 5:g.112043397C>G | ClinGen:CA658796617 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-18C>A | 324 | APC | Uncertain significance | rs1357561329 | RCV000698295; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043397 | 112043397 | C | A | 5:g.112043397C>A | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-18C>T | 324 | APC | Uncertain significance | -1 | RCV002045681; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043397 | 112043397 | C | T | 112043397 | - | | |
NM_001127511.3(APC):c.-17G>C | 324 | APC | Uncertain significance | rs1750598442 | RCV001342526; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043398 | 112043398 | G | C | 112043398 | - | | |
NM_001127511.3(APC):c.-14C>T | 324 | APC | Uncertain significance | rs1554060248 | RCV000662369; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043401 | 112043401 | C | T | 5:g.112043401C>T | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-13C>G | 324 | APC | Uncertain significance | rs1257473862 | RCV001339984; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043402 | 112043402 | C | G | 112043402 | - | | |
NM_001127511.3(APC):c.-13C>T | 324 | APC | Uncertain significance | rs1257473862 | RCV001345625; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043402 | 112043402 | C | T | 112043402 | - | | |
NM_001127511.3(APC):c.-12T>C | 324 | APC | Uncertain significance | rs1057517554 | RCV000409373; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043403 | 112043403 | T | C | 5:g.112043403T>C | ClinGen:CA16042075 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-11C>G | 324 | APC | Uncertain significance | rs1750599043 | RCV001313538; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043404 | 112043404 | C | G | 112043404 | - | | |
NM_001127511.3(APC):c.-11C>T | 324 | APC | Uncertain significance | rs1750599043 | RCV001322123; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043404 | 112043404 | C | T | 112043404 | - | | |
NM_001127511.3(APC):c.-10G>T | 324 | APC | Uncertain significance | rs1184095408 | RCV001352064; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043405 | 112043405 | G | T | 112043405 | - | | |
NM_001127511.3(APC):c.-10G>A | 324 | APC | Uncertain significance | -1 | RCV001360857; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043405 | 112043405 | G | A | 112043405 | - | | |
NM_001127511.3(APC):c.-9G>A | 324 | APC | Uncertain significance | -1 | RCV002027795; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043406 | 112043406 | G | A | 112043406 | - | | |
NM_001127511.3(APC):c.-8C>G | 324 | APC | Uncertain significance | rs1750599549 | RCV001318053; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043407 | 112043407 | C | G | 112043407 | - | | |
NM_001127511.3(APC):c.-8C>T | 324 | APC | Uncertain significance | rs1750599549 | RCV001324238; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043407 | 112043407 | C | T | 112043407 | - | | |
NM_001127511.3(APC):c.-7_-6delinsAA | 324 | APC | Uncertain significance | rs1750599736 | RCV001307254; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043408 | 112043409 | GC | AA | 112043408 | - | | |
NM_001127511.3(APC):c.-7G>A | 324 | APC | Uncertain significance | -1 | RCV002042108; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043408 | 112043408 | G | A | 112043408 | - | | |
NM_001127511.3(APC):c.-2del | 324 | APC | Uncertain significance | rs1257317812 | RCV001303681; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043409 | 112043409 | GC | G | 112043408 | - | | |
NM_001127511.3(APC):c.-5C>T | 324 | APC | Uncertain significance | rs972010514 | RCV000646533; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043410 | 112043410 | C | T | 5:g.112043410C>T | ClinGen:CA124925090 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-5C>A | 324 | APC | Uncertain significance | rs972010514 | RCV000662776|RCV001855406; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043410 | 112043410 | C | A | 5:g.112043410C>A | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-4C>G | 324 | APC | Uncertain significance | rs1750600295 | RCV001312824; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043411 | 112043411 | C | G | 112043411 | - | | |
NM_001127511.3(APC):c.-3C>A | 324 | APC | Conflicting interpretations of pathogenicity | rs771410311 | RCV000679420|RCV001308695; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043412 | 112043412 | C | A | 5:g.112043412C>A | - | CN517202 not provided; | |
NM_001127511.3(APC):c.-3C>G | 324 | APC | Uncertain significance | -1 | RCV001362143; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043412 | 112043412 | C | G | 112043412 | - | | |
NM_001127511.3(APC):c.-3C>T | 324 | APC | Uncertain significance | -1 | RCV002042922; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043412 | 112043412 | C | T | 112043412 | - | | |
NM_001127511.3(APC):c.-2C>T | 324 | APC | Uncertain significance | rs1395970563 | RCV000556891; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043413 | 112043413 | C | T | NC_000005.9:g.112043413C>T | ClinGen:CA561890274 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-1T>A | 324 | APC | Uncertain significance | rs1750600817 | RCV001313214; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043414 | 112043414 | T | A | 112043414 | - | | |
NM_001127511.3(APC):c.-1T>C | 324 | APC | Uncertain significance | rs1750600817 | RCV001348826; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043414 | 112043414 | T | C | 112043414 | - | | |
NM_001127511.3(APC):c.-1T>G | 324 | APC | Uncertain significance | rs1750600817 | RCV001351327; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043414 | 112043414 | T | G | 112043414 | - | | |
NM_001127511.3(APC):c.1A>G (p.Met1Val) | 324 | APC | Uncertain significance | rs189807660 | RCV000551159|RCV000764558|RCV001092762; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Onto | 5 | 112043415 | 112043415 | A | G | 5:g.112043415A>G | ClinGen:CA124925094 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.1A>T (p.Met1Leu) | 324 | APC | Uncertain significance | rs189807660 | RCV000662980; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043415 | 112043415 | A | T | 5:g.112043415A>T | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.2T>C (p.Met1Thr) | 324 | APC | Uncertain significance | -1 | RCV001365459; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043416 | 112043416 | T | C | 112043416 | - | | |
NM_001127511.3(APC):c.3G>A (p.Met1Ile) | 324 | APC | Uncertain significance | rs1057517567 | RCV000411262; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043417 | 112043417 | G | A | NC_000005.9:g.112043417G>A | ClinGen:CA16042076 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.7G>A (p.Ala3Thr) | 324 | APC | Uncertain significance | rs1170818329 | RCV001321219; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043421 | 112043421 | G | A | 112043421 | - | | |
NM_001127511.3(APC):c.9C>T (p.Ala3=) | 324 | APC | Uncertain significance | rs1750602563 | RCV001307338; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043423 | 112043423 | C | T | 112043423 | - | | |
NM_001127511.3(APC):c.10T>C (p.Ser4Pro) | 324 | APC | Uncertain significance | rs959934876 | RCV001300753; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043424 | 112043424 | T | C | 112043424 | - | | |
NM_001127511.3(APC):c.10T>A (p.Ser4Thr) | 324 | APC | Uncertain significance | -1 | RCV001373776; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043424 | 112043424 | T | A | 112043424 | - | | |
NM_001127511.3(APC):c.12C>T (p.Ser4=) | 324 | APC | Uncertain significance | rs1554060261 | RCV000646609; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043426 | 112043426 | C | T | 5:g.112043426C>T | ClinGen:CA658796618 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.13C>G (p.Leu5Val) | 324 | APC | Uncertain significance | -1 | RCV002025542; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043427 | 112043427 | C | G | 112043427 | - | | |
NM_001127511.3(APC):c.16G>A (p.Gly6Ser) | 324 | APC | Conflicting interpretations of pathogenicity | rs1043505718 | RCV000679422|RCV001079538; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043430 | 112043430 | G | A | NC_000005.9:g.112043430G>A | ClinGen:CA124925107 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.17G>A (p.Gly6Asp) | 324 | APC | Uncertain significance | rs1304453341 | RCV000646592; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043431 | 112043431 | G | A | 5:g.112043431G>A | ClinGen:CA360611615 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.18C>T (p.Gly6=) | 324 | APC | Uncertain significance | -1 | RCV002025525; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043432 | 112043432 | C | T | 112043432 | - | | |
NM_001127511.3(APC):c.20C>T (p.Ser7Leu) | 324 | APC | Uncertain significance | rs1402688776 | RCV001295744; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043434 | 112043434 | C | T | 112043434 | - | | |
NM_001127511.3(APC):c.22G>A (p.Gly8Ser) | 324 | APC | Likely benign | rs777188684 | RCV000646529; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043436 | 112043436 | G | A | 5:g.112043436G>A | ClinGen:CA056309 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.23G>A (p.Gly8Asp) | 324 | APC | Uncertain significance | -1 | RCV001989696; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043437 | 112043437 | G | A | 112043437 | - | | |
NM_001127511.3(APC):c.25C>A (p.Pro9Thr) | 324 | APC | Uncertain significance | rs1291188034 | RCV000646633; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043439 | 112043439 | C | A | NC_000005.9:g.112043439C>A | ClinGen:CA360611647 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.25C>T (p.Pro9Ser) | 324 | APC | Uncertain significance | rs1291188034 | RCV001298883; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043439 | 112043439 | C | T | 112043439 | - | | |
NM_001127511.3(APC):c.25C>G (p.Pro9Ala) | 324 | APC | Uncertain significance | -1 | RCV001368330; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043439 | 112043439 | C | G | 112043439 | - | | |
NM_001127511.3(APC):c.26C>A (p.Pro9Gln) | 324 | APC | Uncertain significance | rs1342657032 | RCV001340890; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043440 | 112043440 | C | A | 112043440 | - | | |
NM_001127511.3(APC):c.27G>C (p.Pro9=) | 324 | APC | Uncertain significance | rs761592349 | RCV000820364; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043441 | 112043441 | G | C | 5:g.112043441G>C | - | | |
NM_001127511.3(APC):c.27G>A (p.Pro9=) | 324 | APC | Uncertain significance | -1 | RCV001889832; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043441 | 112043441 | G | A | 112043441 | - | | |
NM_001127511.3(APC):c.28G>T (p.Val10Phe) | 324 | APC | Uncertain significance | rs1397116635 | RCV000646627; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043442 | 112043442 | G | T | NC_000005.9:g.112043442G>T | ClinGen:CA360611672 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.30C>A (p.Val10=) | 324 | APC | Likely benign | rs917976853 | RCV000557808; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043444 | 112043444 | C | A | NC_000005.9:g.112043444C>A | ClinGen:CA124925115 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.30C>T (p.Val10=) | 324 | APC | Uncertain significance | rs917976853 | RCV001343440; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043444 | 112043444 | C | T | 112043444 | - | | |
NM_001127511.3(APC):c.31G>A (p.Ala11Thr) | 324 | APC | Uncertain significance | rs1750604515 | RCV001314308; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043445 | 112043445 | G | A | 112043445 | - | | |
NM_001127511.3(APC):c.35dup (p.Leu13fs) | 324 | APC | Uncertain significance | rs1750604836 | RCV001320124; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043445 | 112043446 | G | GC | 112043445 | - | | |
NM_001127511.3(APC):c.32C>A (p.Ala11Asp) | 324 | APC | Uncertain significance | -1 | RCV001359328; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043446 | 112043446 | C | A | 112043446 | - | | |
NM_001127511.3(APC):c.32C>T (p.Ala11Val) | 324 | APC | Uncertain significance | -1 | RCV001360638; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043446 | 112043446 | C | T | 112043446 | - | | |
NM_001127511.3(APC):c.32C>G (p.Ala11Gly) | 324 | APC | Uncertain significance | -1 | RCV002028779; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043446 | 112043446 | C | G | 112043446 | - | | |
NM_001127511.3(APC):c.33C>G (p.Ala11=) | 324 | APC | Uncertain significance | rs1750604976 | RCV001302917; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043447 | 112043447 | C | G | 112043447 | - | | |
NM_001127511.3(APC):c.34C>T (p.Pro12Ser) | 324 | APC | Uncertain significance | rs1316080865 | RCV000813925; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043448 | 112043448 | C | T | 5:g.112043448C>T | - | | |
NM_001127511.3(APC):c.36T>C (p.Pro12=) | 324 | APC | Uncertain significance | -1 | RCV001988028; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043450 | 112043450 | T | C | 112043450 | - | | |
NM_001127511.3(APC):c.40_49del (p.Pro14fs) | 324 | APC | Uncertain significance | -1 | RCV001361077; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043452 | 112043461 | TTGCCCGCTTC | T | 112043451 | - | | |
NM_001127511.3(APC):c.39G>C (p.Leu13Phe) | 324 | APC | Uncertain significance | rs772953367 | RCV000542972; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043453 | 112043453 | G | C | NC_000005.9:g.112043453G>C | ClinGen:CA124925119 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.39G>A (p.Leu13=) | 324 | APC | Uncertain significance | rs772953367 | RCV000646647; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043453 | 112043453 | G | A | NC_000005.9:g.112043453G>A | ClinGen:CA650199572 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.39G>T (p.Leu13Phe) | 324 | APC | Uncertain significance | rs772953367 | RCV000799480; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043453 | 112043453 | G | T | 5:g.112043453G>T | - | | |
NM_001127511.3(APC):c.40C>T (p.Pro14Ser) | 324 | APC | Uncertain significance | rs1750605530 | RCV001345066; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043454 | 112043454 | C | T | 112043454 | - | | |
NM_001127511.3(APC):c.41C>T (p.Pro14Leu) | 324 | APC | Uncertain significance | -1 | RCV001366084; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043455 | 112043455 | C | T | 112043455 | - | | |
NM_001127511.3(APC):c.42C>T (p.Pro14=) | 324 | APC | Uncertain significance | -1 | RCV001366379; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043456 | 112043456 | C | T | 112043456 | - | | |
NM_001127511.3(APC):c.42C>G (p.Pro14=) | 324 | APC | Uncertain significance | -1 | RCV001894914; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043456 | 112043456 | C | G | 112043456 | - | | |
NM_001127511.3(APC):c.45T>C (p.Ala15=) | 324 | APC | Uncertain significance | -1 | RCV002006552; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043459 | 112043459 | T | C | 112043459 | - | | |
NM_001127511.3(APC):c.46T>C (p.Ser16Pro) | 324 | APC | Uncertain significance | rs1554060278 | RCV000532648; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043460 | 112043460 | T | C | NC_000005.9:g.112043460T>C | ClinGen:CA360611747 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.46T>G (p.Ser16Ala) | 324 | APC | Uncertain significance | rs1554060278 | RCV001347246; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043460 | 112043460 | T | G | 112043460 | - | | |
NM_001127511.3(APC):c.47C>G (p.Ser16Cys) | 324 | APC | Uncertain significance | -1 | RCV002004660; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043461 | 112043461 | C | G | 112043461 | - | | |
NM_001127511.3(APC):c.47C>A (p.Ser16Tyr) | 324 | APC | Uncertain significance | -1 | RCV001968713; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043461 | 112043461 | C | A | 112043461 | - | | |
NM_001127511.3(APC):c.48T>C (p.Ser16=) | 324 | APC | Likely benign | rs980704771 | RCV000409172; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043462 | 112043462 | T | C | NC_000005.9:g.112043462T>C | ClinGen:CA16042077 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.48T>G (p.Ser16=) | 324 | APC | Uncertain significance | rs980704771 | RCV000558748; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043462 | 112043462 | T | G | 5:g.112043462T>G | ClinGen:CA124925134 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.49G>A (p.Val17Ile) | 324 | APC | Uncertain significance | rs1750606571 | RCV001296677; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043463 | 112043463 | G | A | 112043463 | - | | |
NM_001127511.3(APC):c.52C>G (p.Pro18Ala) | 324 | APC | Uncertain significance | -1 | RCV001915419; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043466 | 112043466 | C | G | 112043466 | - | | |
NM_001127511.3(APC):c.53C>T (p.Pro18Leu) | 324 | APC | Uncertain significance | rs1265754890 | RCV000799808; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043467 | 112043467 | C | T | 5:g.112043467C>T | - | | |
NM_001127511.3(APC):c.53C>G (p.Pro18Arg) | 324 | APC | Uncertain significance | rs1265754890 | RCV001321460; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043467 | 112043467 | C | G | 112043467 | - | | |
NM_001127511.3(APC):c.57dup (p.Ser20fs) | 324 | APC | Uncertain significance | -1 | RCV001364603; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043468 | 112043469 | A | AC | 112043468 | - | | |
NM_001127511.3(APC):c.55C>T (p.Pro19Ser) | 324 | APC | Uncertain significance | -1 | RCV002009293; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043469 | 112043469 | C | T | 112043469 | - | | |
NM_001127511.3(APC):c.56C>T (p.Pro19Leu) | 324 | APC | Uncertain significance | rs1349659337 | RCV000805483; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043470 | 112043470 | C | T | 5:g.112043470C>T | - | | |
NM_001127511.3(APC):c.57C>T (p.Pro19=) | 324 | APC | Uncertain significance | -1 | RCV001365700; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043471 | 112043471 | C | T | 112043471 | - | | |
NM_001127511.3(APC):c.59C>G (p.Ser20Ter) | 324 | APC | Uncertain significance | -1 | RCV001363958; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043473 | 112043473 | C | G | 112043473 | - | | |
NM_001127511.3(APC):c.60A>T (p.Ser20=) | 324 | APC | Uncertain significance | -1 | RCV001908601; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043474 | 112043474 | A | T | 112043474 | - | | |
NM_001127511.3(APC):c.61G>T (p.Val21Phe) | 324 | APC | Uncertain significance | rs1750607281 | RCV001318783; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043475 | 112043475 | G | T | 112043475 | - | | |
NM_001127511.3(APC):c.61G>C (p.Val21Leu) | 324 | APC | Uncertain significance | -1 | RCV001917991; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043475 | 112043475 | G | C | 112043475 | - | | |
NM_001127511.3(APC):c.63T>G (p.Val21=) | 324 | APC | Uncertain significance | -1 | RCV001363036; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043477 | 112043477 | T | G | 112043477 | - | | |
NM_001127511.3(APC):c.64C>T (p.Leu22Phe) | 324 | APC | Uncertain significance | rs1554060282 | RCV000533593; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043478 | 112043478 | C | T | 5:g.112043478C>T | ClinGen:CA360611829 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.64C>G (p.Leu22Val) | 324 | APC | Uncertain significance | -1 | RCV001890980; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043478 | 112043478 | C | G | 112043478 | - | | |
NM_001127511.3(APC):c.65T>C (p.Leu22Pro) | 324 | APC | Uncertain significance | rs1750607611 | RCV001345013; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043479 | 112043479 | T | C | 112043479 | - | | |
NM_001127511.3(APC):c.66C>T (p.Leu22=) | 324 | APC | Uncertain significance | rs1422300065 | RCV000646639; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043480 | 112043480 | C | T | 5:g.112043480C>T | ClinGen:CA561890281 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.66C>A (p.Leu22=) | 324 | APC | Uncertain significance | rs1422300065 | RCV001313917; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043480 | 112043480 | C | A | 112043480 | - | | |
NM_001127511.3(APC):c.67G>A (p.Gly23Arg) | 324 | APC | Uncertain significance | rs762748481 | RCV000555150; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043481 | 112043481 | G | A | NC_000005.9:g.112043481G>A | ClinGen:CA124925142 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.67G>C (p.Gly23Arg) | 324 | APC | Uncertain significance | -1 | RCV001899561; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043481 | 112043481 | G | C | 112043481 | - | | |
NM_001127511.3(APC):c.69G>T (p.Gly23=) | 324 | APC | Likely benign | -1 | RCV001414825; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043483 | 112043483 | G | T | 112043483 | - | | |
NM_001127511.3(APC):c.71C>T (p.Ser24Phe) | 324 | APC | Conflicting interpretations of pathogenicity | rs770241997 | RCV000410042; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043485 | 112043485 | C | T | NC_000005.9:g.112043485C>T | ClinGen:CA059369 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.71C>G (p.Ser24Cys) | 324 | APC | Uncertain significance | rs770241997 | RCV000802312; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043485 | 112043485 | C | G | 5:g.112043485C>G | - | | |
NM_001127511.3(APC):c.73T>G (p.Trp25Gly) | 324 | APC | Uncertain significance | -1 | RCV002026809; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043487 | 112043487 | T | G | 112043487 | - | | |
NM_001127511.3(APC):c.74G>A (p.Trp25Ter) | 324 | APC | Uncertain significance | rs1554060285 | RCV000529960; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043488 | 112043488 | G | A | 5:g.112043488G>A | ClinGen:CA360611862 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.74G>C (p.Trp25Ser) | 324 | APC | Uncertain significance | -1 | RCV001983990; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043488 | 112043488 | G | C | 112043488 | - | | |
NM_001127511.3(APC):c.77G>T (p.Ser26Ile) | 324 | APC | Uncertain significance | rs775738268 | RCV000805826|RCV001766678; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 | 5 | 112043491 | 112043491 | G | T | 5:g.112043491G>T | - | | |
NM_001127511.3(APC):c.77G>A (p.Ser26Asn) | 324 | APC | Uncertain significance | rs775738268 | RCV001307154; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043491 | 112043491 | G | A | 112043491 | - | | |
NM_001127511.3(APC):c.78C>A (p.Ser26Arg) | 324 | APC | Benign | rs113782655 | RCV000120009|RCV000123676|RCV000238598|RCV000410035; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043492 | 112043492 | C | A | 5:g.112043492C>A | ClinGen:CA025425 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.78C>T (p.Ser26=) | 324 | APC | Uncertain significance | rs113782655 | RCV001319105; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043492 | 112043492 | C | T | 112043492 | - | | |
NM_001127511.3(APC):c.78C>G (p.Ser26Arg) | 324 | APC | Uncertain significance | -1 | RCV001364958; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043492 | 112043492 | C | G | 112043492 | - | | |
NM_001127511.3(APC):c.80C>T (p.Thr27Ile) | 324 | APC | Uncertain significance | rs1400852847 | RCV000541191; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043494 | 112043494 | C | T | NC_000005.9:g.112043494C>T | ClinGen:CA360611897 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.80C>G (p.Thr27Ser) | 324 | APC | Uncertain significance | rs1400852847 | RCV001315192; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043494 | 112043494 | C | G | 112043494 | - | | |
NM_001127511.3(APC):c.82G>C (p.Gly28Arg) | 324 | APC | Uncertain significance | rs1297745273 | RCV001318655; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043496 | 112043496 | G | C | 112043496 | - | | |
NM_001127511.3(APC):c.82G>A (p.Gly28Ser) | 324 | APC | Uncertain significance | rs1297745273 | RCV001342926; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043496 | 112043496 | G | A | 112043496 | - | | |
NM_001127511.3(APC):c.83G>A (p.Gly28Asp) | 324 | APC | Uncertain significance | rs1057517606 | RCV000409724; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043497 | 112043497 | G | A | NC_000005.9:g.112043497G>A | ClinGen:CA16042078 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.84C>A (p.Gly28=) | 324 | APC | Uncertain significance | rs1750609849 | RCV001302104; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043498 | 112043498 | C | A | 112043498 | - | | |
NM_001127511.3(APC):c.85G>T (p.Gly29Cys) | 324 | APC | Uncertain significance | rs1580996980 | RCV000804524; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043499 | 112043499 | G | T | 5:g.112043499G>T | - | | |
NM_001127511.3(APC):c.85G>A (p.Gly29Ser) | 324 | APC | Uncertain significance | -1 | RCV001361199; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043499 | 112043499 | G | A | 112043499 | - | | |
NM_001127511.3(APC):c.86G>A (p.Gly29Asp) | 324 | APC | Uncertain significance | rs1337289014 | RCV000526272; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043500 | 112043500 | G | A | 5:g.112043500G>A | ClinGen:CA360611917 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.87C>T (p.Gly29=) | 324 | APC | Uncertain significance | rs1750610368 | RCV001317755; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043501 | 112043501 | C | T | 112043501 | - | | |
NM_001127511.3(APC):c.88A>T (p.Ser30Cys) | 324 | APC | Uncertain significance | -1 | RCV002004278; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043502 | 112043502 | A | T | 112043502 | - | | |
NM_001127511.3(APC):c.90C>T (p.Ser30=) | 324 | APC | Uncertain significance | -1 | RCV001360332; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043504 | 112043504 | C | T | 112043504 | - | | |
NM_001127511.3(APC):c.91A>C (p.Arg31=) | 324 | APC | Uncertain significance | rs1302045127 | RCV000646558; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043505 | 112043505 | A | C | 5:g.112043505A>C | ClinGen:CA561890291 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.92G>A (p.Arg31Lys) | 324 | APC | Uncertain significance | rs1750610701 | RCV001297134; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043506 | 112043506 | G | A | 112043506 | - | | |
NM_001127511.3(APC):c.93G>T (p.Arg31Ser) | 324 | APC | Uncertain significance | -1 | RCV001972922; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043507 | 112043507 | G | T | 112043507 | - | | |
NM_001127511.3(APC):c.96C>G (p.Ser32Arg) | 324 | APC | Uncertain significance | rs1446044641 | RCV001307352; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043510 | 112043510 | C | G | 112043510 | - | | |
NM_001127511.3(APC):c.97_112del (p.Cys33fs) | 324 | APC | Uncertain significance | -1 | RCV001362821; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043511 | 112043526 | CTGCGTCCGGCAGGAGA | C | 112043510 | - | | |
NM_001127511.3(APC):c.98_99delinsTT (p.Cys33Phe) | 324 | APC | Uncertain significance | rs1750611037 | RCV001324127; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043512 | 112043513 | GC | TT | 112043512 | - | | |
NM_001127511.3(APC):c.99C>T (p.Cys33=) | 324 | APC | Uncertain significance | rs1312161630 | RCV000646563; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043513 | 112043513 | C | T | 5:g.112043513C>T | ClinGen:CA561890293 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.100G>A (p.Val34Ile) | 324 | APC | Uncertain significance | rs1232734822 | RCV000646556; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043514 | 112043514 | G | A | NC_000005.9:g.112043514G>A | ClinGen:CA360611986 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.100_101del (p.Val34fs) | 324 | APC | Uncertain significance | rs1750611348 | RCV001342562; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043514 | 112043515 | CGT | C | 112043513 | - | | |
NM_001127511.3(APC):c.100G>T (p.Val34Phe) | 324 | APC | Uncertain significance | -1 | RCV002010435; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043514 | 112043514 | G | T | 112043514 | - | | |
NM_001127511.3(APC):c.102C>T (p.Val34=) | 324 | APC | Uncertain significance | rs763659488 | RCV001305362; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043516 | 112043516 | C | T | 112043516 | - | | |
NM_001127511.3(APC):c.102C>G (p.Val34=) | 324 | APC | Uncertain significance | rs763659488 | RCV001348304; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043516 | 112043516 | C | G | 112043516 | - | | |
NM_001127511.3(APC):c.103C>T (p.Arg35Trp) | 324 | APC | Uncertain significance | rs1554060293 | RCV000646590; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043517 | 112043517 | C | T | 5:g.112043517C>T | ClinGen:CA360611991 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.103C>G (p.Arg35Gly) | 324 | APC | Uncertain significance | rs1554060293 | RCV001320476; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043517 | 112043517 | C | G | 112043517 | - | | |
NM_001127511.3(APC):c.104G>T (p.Arg35Leu) | 324 | APC | Uncertain significance | -1 | RCV001925304; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043518 | 112043518 | G | T | 112043518 | - | | |
NM_001127511.3(APC):c.104G>C (p.Arg35Pro) | 324 | APC | Uncertain significance | -1 | RCV002040349; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043518 | 112043518 | G | C | 112043518 | - | | |
NM_001127511.3(APC):c.106C>A (p.Gln36Lys) | 324 | APC | Uncertain significance | rs773941688 | RCV001352607; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043520 | 112043520 | C | A | 112043520 | - | | |
NM_001127511.3(APC):c.106C>T (p.Gln36Ter) | 324 | APC | Uncertain significance | -1 | RCV001897387; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043520 | 112043520 | C | T | 112043520 | - | | |
NM_001127511.3(APC):c.107A>G (p.Gln36Arg) | 324 | APC | Uncertain significance | rs1580997050 | RCV000815945; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043521 | 112043521 | A | G | 5:g.112043521A>G | - | | |
NM_001127511.3(APC):c.109G>A (p.Glu37Lys) | 324 | APC | Uncertain significance | -1 | RCV001366905; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043523 | 112043523 | G | A | 112043523 | - | | |
NM_001127511.3(APC):c.113C>T (p.Thr38Met) | 324 | APC | Uncertain significance | rs1484678720 | RCV000803846; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043527 | 112043527 | C | T | 5:g.112043527C>T | - | | |
NM_001127511.3(APC):c.114G>A (p.Thr38=) | 324 | APC | Uncertain significance | rs761467156 | RCV000547842; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043528 | 112043528 | G | A | NC_000005.9:g.112043528G>A | ClinGen:CA561890299 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.114G>C (p.Thr38=) | 324 | APC | Uncertain significance | rs761467156 | RCV001298123; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043528 | 112043528 | G | C | 112043528 | - | | |
NM_001127511.3(APC):c.114G>T (p.Thr38=) | 324 | APC | Uncertain significance | -1 | RCV001368273; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043528 | 112043528 | G | T | 112043528 | - | | |
NM_001127511.3(APC):c.116A>G (p.Lys39Arg) | 324 | APC | Uncertain significance | rs1750612690 | RCV001306059; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043530 | 112043530 | A | G | 112043530 | - | | |
NM_001127511.3(APC):c.117G>C (p.Lys39Asn) | 324 | APC | Uncertain significance | rs1750612789 | RCV001322125; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043531 | 112043531 | G | C | 112043531 | - | | |
NM_001127511.3(APC):c.118A>T (p.Ser40Cys) | 324 | APC | Uncertain significance | -1 | RCV001365647; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043532 | 112043532 | A | T | 112043532 | - | | |
NM_001127511.3(APC):c.119G>C (p.Ser40Thr) | 324 | APC | Conflicting interpretations of pathogenicity | rs587778028 | RCV000120010|RCV000542057|RCV001705881; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112043533 | 112043533 | G | C | 5:g.112043533G>C | ClinGen:CA023283 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.119G>A (p.Ser40Asn) | 324 | APC | Uncertain significance | rs587778028 | RCV000646658; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043533 | 112043533 | G | A | 5:g.112043533G>A | ClinGen:CA360612041 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.119G>T (p.Ser40Ile) | 324 | APC | Uncertain significance | rs587778028 | RCV001317084; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043533 | 112043533 | G | T | 112043533 | - | | |
NM_001127511.3(APC):c.120C>A (p.Ser40Arg) | 324 | APC | Uncertain significance | rs1750613117 | RCV001295321; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043534 | 112043534 | C | A | 112043534 | - | | |
NM_001127511.3(APC):c.120C>T (p.Ser40=) | 324 | APC | Uncertain significance | -1 | RCV001869874; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043534 | 112043534 | C | T | 112043534 | - | | |
NM_001127511.3(APC):c.121C>G (p.Pro41Ala) | 324 | APC | Uncertain significance | rs1248809012 | RCV000646688; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043535 | 112043535 | C | G | NC_000005.9:g.112043535C>G | ClinGen:CA360612047 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.122C>T (p.Pro41Leu) | 324 | APC | Conflicting interpretations of pathogenicity | rs1057517584 | RCV000410173; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043536 | 112043536 | C | T | 5:g.112043536C>T | ClinGen:CA16042079 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.122C>G (p.Pro41Arg) | 324 | APC | Uncertain significance | rs1057517584 | RCV001337376; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043536 | 112043536 | C | G | 112043536 | - | | |
NM_001127511.3(APC):c.123G>A (p.Pro41=) | 324 | APC | Uncertain significance | rs1189155420 | RCV000646641; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043537 | 112043537 | G | A | 5:g.112043537G>A | ClinGen:CA650199593 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.123G>T (p.Pro41=) | 324 | APC | Uncertain significance | rs1189155420 | RCV000646559; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043537 | 112043537 | G | T | 5:g.112043537G>T | ClinGen:CA561890306 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.123G>C (p.Pro41=) | 324 | APC | Uncertain significance | rs1189155420 | RCV001301877; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043537 | 112043537 | G | C | 112043537 | - | | |
NM_001127511.3(APC):c.123_124insTACTTCT (p.Gly42fs) | 324 | APC | Uncertain significance | -1 | RCV001996465; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043537 | 112043538 | G | GTACTTCT | 112043537 | - | | |
NM_001127511.3(APC):c.124G>A (p.Gly42Ser) | 324 | APC | Uncertain significance | rs1057517582 | RCV000411411; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043538 | 112043538 | G | A | NC_000005.9:g.112043538G>A | ClinGen:CA16042080 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.125G>A (p.Gly42Asp) | 324 | APC | Conflicting interpretations of pathogenicity | rs1057517570 | RCV000409742|RCV000679421; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112043539 | 112043539 | G | A | NC_000005.9:g.112043539G>A | ClinGen:CA16042081 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.125G>C (p.Gly42Ala) | 324 | APC | Uncertain significance | rs1057517570 | RCV001326936; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043539 | 112043539 | G | C | 112043539 | - | | |
NM_001127511.3(APC):c.127G>A (p.Gly43Ser) | 324 | APC | Uncertain significance | rs1171615515 | RCV000814998; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043541 | 112043541 | G | A | 5:g.112043541G>A | - | | |
NM_001127511.3(APC):c.129C>T (p.Gly43=) | 324 | APC | Uncertain significance | rs1750614449 | RCV001345014; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043543 | 112043543 | C | T | 112043543 | - | | |
NM_001127511.3(APC):c.130G>A (p.Ala44Thr) | 324 | APC | Conflicting interpretations of pathogenicity | rs367773779 | RCV000412427; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043544 | 112043544 | G | A | NC_000005.9:g.112043544G>A | ClinGen:CA053928 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.130G>C (p.Ala44Pro) | 324 | APC | Uncertain significance | rs367773779 | RCV000533875; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043544 | 112043544 | G | C | NC_000005.9:g.112043544G>C | ClinGen:CA360612075 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.131C>G (p.Ala44Gly) | 324 | APC | Uncertain significance | rs1750614704 | RCV001305391; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043545 | 112043545 | C | G | 112043545 | - | | |
NM_001127511.3(APC):c.133C>T (p.Arg45Cys) | 324 | APC | Uncertain significance | rs755954869 | RCV000549716; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043547 | 112043547 | C | T | NC_000005.9:g.112043547C>T | ClinGen:CA053936 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.133C>A (p.Arg45Ser) | 324 | APC | Uncertain significance | -1 | RCV001364644; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043547 | 112043547 | C | A | 112043547 | - | | |
NM_001127511.3(APC):c.133C>G (p.Arg45Gly) | 324 | APC | Uncertain significance | -1 | RCV001366854; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043547 | 112043547 | C | G | 112043547 | - | | |
NM_001127511.3(APC):c.134G>C (p.Arg45Pro) | 324 | APC | Uncertain significance | rs1004213568 | RCV000646679; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043548 | 112043548 | G | C | 5:g.112043548G>C | ClinGen:CA124925217 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.134G>A (p.Arg45His) | 324 | APC | Uncertain significance | rs1004213568 | RCV000662997; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043548 | 112043548 | G | A | 5:g.112043548G>A | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.136A>C (p.Thr46Pro) | 324 | APC | Uncertain significance | rs766151900 | RCV000646578; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043550 | 112043550 | A | C | NC_000005.9:g.112043550A>C | ClinGen:CA054190 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.136A>G (p.Thr46Ala) | 324 | APC | Uncertain significance | -1 | RCV002025495; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043550 | 112043550 | A | G | 112043550 | - | | |
NM_001127511.3(APC):c.137C>T (p.Thr46Ile) | 324 | APC | Uncertain significance | rs1016971418 | RCV000614706|RCV001309343; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043551 | 112043551 | C | T | 5:g.112043551C>T | ClinGen:CA360612118 | CN169374 not specified; | |
NM_001127511.3(APC):c.140C>G (p.Ser47Cys) | 324 | APC | Uncertain significance | rs1750615769 | RCV001324696; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043554 | 112043554 | C | G | 112043554 | - | | |
NM_001127511.3(APC):c.140C>T (p.Ser47Phe) | 324 | APC | Uncertain significance | -1 | RCV001946127; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043554 | 112043554 | C | T | 112043554 | - | | |
NM_001127511.3(APC):c.141T>G (p.Ser47=) | 324 | APC | Uncertain significance | -1 | RCV001373746; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043555 | 112043555 | T | G | 112043555 | - | | |
NM_001127511.3(APC):c.141T>A (p.Ser47=) | 324 | APC | Uncertain significance | -1 | RCV002030933; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043555 | 112043555 | T | A | 112043555 | - | | |
NM_001127511.3(APC):c.145C>T (p.His49Tyr) | 324 | APC | Uncertain significance | rs933496509 | RCV001346981; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043559 | 112043559 | C | T | 112043559 | - | | |
NM_001127511.3(APC):c.146del (p.His49fs) | 324 | APC | Uncertain significance | rs1750616412 | RCV001309908; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043560 | 112043560 | CA | C | 112043559 | - | | |
NM_001127511.3(APC):c.146A>G (p.His49Arg) | 324 | APC | Uncertain significance | rs1191401517 | RCV001306050; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043560 | 112043560 | A | G | 112043560 | - | | |
NM_001127511.3(APC):c.148T>C (p.Trp50Arg) | 324 | APC | Uncertain significance | rs1488176769 | RCV000646675; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043562 | 112043562 | T | C | 5:g.112043562T>C | ClinGen:CA360612160 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.148T>G (p.Trp50Gly) | 324 | APC | Uncertain significance | -1 | RCV001363263; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043562 | 112043562 | T | G | 112043562 | - | | |
NM_001127511.3(APC):c.149G>C (p.Trp50Ser) | 324 | APC | Uncertain significance | rs1366978080 | RCV000662474; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043563 | 112043563 | G | C | 5:g.112043563G>C | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.150G>A (p.Trp50Ter) | 324 | APC | Uncertain significance | rs1163442131 | RCV000534823; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043564 | 112043564 | G | A | 5:g.112043564G>A | ClinGen:CA360612168 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.150G>C (p.Trp50Cys) | 324 | APC | Uncertain significance | -1 | RCV001936523; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043564 | 112043564 | G | C | 112043564 | - | | |
NM_001127511.3(APC):c.151G>A (p.Ala51Thr) | 324 | APC | Uncertain significance | rs1750617136 | RCV001342161; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043565 | 112043565 | G | A | 112043565 | - | | |
NM_001127511.3(APC):c.151G>C (p.Ala51Pro) | 324 | APC | Uncertain significance | -1 | RCV001892189; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043565 | 112043565 | G | C | 112043565 | - | | |
NM_001127511.3(APC):c.152C>T (p.Ala51Val) | 324 | APC | Uncertain significance | -1 | RCV001371893; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043566 | 112043566 | C | T | 112043566 | - | | |
NM_001127511.3(APC):c.153G>T (p.Ala51=) | 324 | APC | Uncertain significance | rs1750617341 | RCV001321462; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043567 | 112043567 | G | T | 112043567 | - | | |
NM_001127511.3(APC):c.153G>A (p.Ala51=) | 324 | APC | Uncertain significance | -1 | RCV001932427; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043567 | 112043567 | G | A | 112043567 | - | | |
NM_001127511.3(APC):c.154A>G (p.Ser52Gly) | 324 | APC | Uncertain significance | rs1554060315 | RCV000646564; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043568 | 112043568 | A | G | 5:g.112043568A>G | ClinGen:CA360612183 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.155G>C (p.Ser52Thr) | 324 | APC | Uncertain significance | rs1554060317 | RCV000646549; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043569 | 112043569 | G | C | 5:g.112043569G>C | ClinGen:CA360612189 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.156C>T (p.Ser52=) | 324 | APC | Uncertain significance | rs1051954601 | RCV001319834; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043570 | 112043570 | C | T | 112043570 | - | | |
NM_001127511.3(APC):c.156C>A (p.Ser52Arg) | 324 | APC | Uncertain significance | -1 | RCV001370584; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043570 | 112043570 | C | A | 112043570 | - | | |
NM_001127511.3(APC):c.157G>C (p.Val53Leu) | 324 | APC | Uncertain significance | rs888841371 | RCV000560864; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043571 | 112043571 | G | C | NC_000005.9:g.112043571G>C | ClinGen:CA124925269 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.159C>T (p.Val53=) | 324 | APC | Uncertain significance | rs1277365767 | RCV001303660; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043573 | 112043573 | C | T | 112043573 | - | | |
NM_001127511.3(APC):c.159C>G (p.Val53=) | 324 | APC | Uncertain significance | -1 | RCV001970881; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043573 | 112043573 | C | G | 112043573 | - | | |
NM_001127511.3(APC):c.160T>C (p.Trp54Arg) | 324 | APC | Uncertain significance | -1 | RCV001932337; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043574 | 112043574 | T | C | 112043574 | - | | |
NM_001127511.3(APC):c.161G>A (p.Trp54Ter) | 324 | APC | Uncertain significance | rs1750617951 | RCV001310027; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043575 | 112043575 | G | A | 112043575 | - | | |
NM_001127511.3(APC):c.161G>C (p.Trp54Ser) | 324 | APC | Uncertain significance | -1 | RCV001872758; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043575 | 112043575 | G | C | 112043575 | - | | |
NM_001127511.3(APC):c.163C>A (p.Gln55Lys) | 324 | APC | Uncertain significance | rs1312050427 | RCV000646582; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043577 | 112043577 | C | A | NC_000005.9:g.112043577C>A | ClinGen:CA360612224 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.163C>T (p.Gln55Ter) | 324 | APC | Uncertain significance | rs1312050427 | RCV001346504; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043577 | 112043577 | C | T | 112043577 | - | | |
NM_001127511.3(APC):c.164A>G (p.Gln55Arg) | 324 | APC | Uncertain significance | -1 | RCV002028124; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043578 | 112043578 | A | G | 112043578 | - | | |
NM_001127511.3(APC):c.165G>C (p.Gln55His) | 324 | APC | Uncertain significance | rs1369553472 | RCV001346693; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043579 | 112043579 | G | C | 112043579 | - | | |
NM_001127511.3(APC):c.165+1G>A | 324 | APC | Uncertain significance | rs1239946140 | RCV000646550; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043580 | 112043580 | G | A | NC_000005.9:g.112043580G>A | ClinGen:CA360612237 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.165+6_165+9del | 324 | APC | Uncertain significance | -1 | RCV001919883; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043580 | 112043583 | GGTGA | G | 112043579 | - | | |
NM_001127511.3(APC):c.165+3G>T | 324 | APC | Uncertain significance | rs765384591 | RCV000646606; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043582 | 112043582 | G | T | 5:g.112043582G>T | ClinGen:CA124925282 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.165+4A>G | 324 | APC | Uncertain significance | rs1750618752 | RCV001327098; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043583 | 112043583 | A | G | 112043583 | - | | |
NM_001127511.3(APC):c.165+9G>A | 324 | APC | Uncertain significance | -1 | RCV001978200; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043588 | 112043588 | G | A | 112043588 | - | | |
NM_001127511.3(APC):c.165+10G>T | 324 | APC | Uncertain significance | rs1296416614 | RCV000646620; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043589 | 112043589 | G | T | NC_000005.9:g.112043589G>T | ClinGen:CA561890341 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.165+10_165+18del | 324 | APC | Uncertain significance | rs1750619239 | RCV001351067; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043589 | 112043597 | GGCTGCAGGC | G | 112043588 | - | | |
NM_001127511.3(APC):c.165+13G>A | 324 | APC | Uncertain significance | -1 | RCV001932623; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043592 | 112043592 | G | A | 112043592 | - | | |
NM_001127511.3(APC):c.165+15A>G | 324 | APC | Uncertain significance | rs1750619444 | RCV001326407; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043594 | 112043594 | A | G | 112043594 | - | | |
NM_001127511.3(APC):c.165+16G>C | 324 | APC | Benign | rs1223298182 | RCV000646649; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043595 | 112043595 | G | C | NC_000005.9:g.112043595G>C | ClinGen:CA658796620 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.165+16G>A | 324 | APC | Uncertain significance | rs1223298182 | RCV001324244; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043595 | 112043595 | G | A | 112043595 | - | | |
NM_001127511.3(APC):c.165+17G>T | 324 | APC | Uncertain significance | rs1057517556 | RCV000410745|RCV001861405; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043596 | 112043596 | G | T | NC_000005.9:g.112043596G>T | ClinGen:CA16042082 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.165+17G>A | 324 | APC | Uncertain significance | rs1057517556 | RCV000546057; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043596 | 112043596 | G | A | NC_000005.9:g.112043596G>A | ClinGen:CA658655905 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.165+19A>G | 324 | APC | Uncertain significance | rs1487833679 | RCV000535698; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043598 | 112043598 | A | G | 5:g.112043598A>G | ClinGen:CA561890344 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.165+20T>C | 324 | APC | Uncertain significance | rs1191699028 | RCV000557239; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043599 | 112043599 | T | C | 5:g.112043599T>C | ClinGen:CA658655906 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.165+20T>A | 324 | APC | Uncertain significance | -1 | RCV001962394; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112043599 | 112043599 | T | A | 112043599 | - | | |
NC_000005.10:g.(?_112737024)_(112844132_?)del | 324 | APC | Pathogenic | -1 | RCV000560788; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112072721 | 112179829 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.(?_112072721)_(112111440_?)dup | 324 | APC | Likely pathogenic | -1 | RCV000550240|RCV001858057; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112072721 | 112111440 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.10:g.(?_112737024)_(112766416_?)del | 324 | APC | Pathogenic | -1 | RCV000646697; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112072721 | 112102113 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.(?_112072721)_(112090728_?)dup | 324 | APC | Likely pathogenic | -1 | RCV000708496; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112072721 | 112090728 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.10:g.(?_112737024)_(112844136_?)del | 324 | APC | Pathogenic | -1 | RCV000813966|RCV001869257; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112072721 | 112179833 | na | na | | - | | |
NC_000005.10:g.(?_112737024)_(112737888_?)dup | 324 | APC | Uncertain significance | -1 | RCV001032266|RCV001862450; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112072721 | 112073585 | na | na | -1 | - | | |
NC_000005.9:g.(?_112072721)_(112090732_?)dup | 324 | APC | Likely pathogenic | -1 | RCV001378397; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112072721 | 112090732 | na | na | -1 | - | | |
NC_000005.9:g.(?_112072721)_(112179823_?)del | 324 | APC | Pathogenic | -1 | RCV001385949; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112072721 | 112179823 | na | na | -1 | - | | |
NC_000005.9:g.(?_112072721)_(112073585_?)del | 324 | APC | Uncertain significance | -1 | RCV001864645; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112072721 | 112073585 | na | na | -1 | - | | |
NC_000005.9:g.(?_112072721)_(112116610_?)dup | 324 | APC | Likely pathogenic | -1 | RCV002042776; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112072721 | 112116610 | na | na | -1 | - | | |
NM_001127511.3(APC):c.166-29015A>T | 324 | APC | Benign | rs75581138 | RCV000602321|RCV000663007; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112073008 | 112073008 | A | T | 5:g.112073008A>T | ClinGen:CA124948485 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.166-28546T>C | 324 | APC | Benign/Likely benign | rs113017087 | RCV000208994|RCV000615963|RCV001519059; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112073477 | 112073477 | T | C | 5:g.112073477T>C | ClinGen:CA351238 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.5(APC):c.-85_*2113del | 324 | APC | Pathogenic | -1 | RCV000232813; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112073556 | 112181936 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.10:g.(?_112737859)_(112815593_?)del | 324 | APC | Pathogenic | -1 | RCV000470226; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112073556 | 112151290 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.-43A>C | 324 | APC | Uncertain significance | rs879254014 | RCV000235958|RCV000708948; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112073598 | 112073598 | A | C | NC_000005.9:g.112073598A>C | ClinGen:CA10584232 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.-19+45G>A | 324 | APC | Likely benign | rs370011472 | RCV000829439|RCV000987547; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112073667 | 112073667 | G | A | 5:g.112073667G>A | - | | |
NM_000038.6(APC):c.-19+416C>T | 324 | APC | Likely benign | rs976627265 | RCV000987548; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112074038 | 112074038 | C | T | 5:g.112074038C>T | - | | |
NC_000005.9:g.(?_112090570)_(112157688_?)dup | 324 | APC | Likely pathogenic | -1 | RCV000469367; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090570 | 112157688 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.(?_112090578)_(112111444_?)dup | 324 | APC | Uncertain significance | -1 | RCV000813971; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090578 | 112111444 | na | na | | - | | |
NC_000005.9:g.(?_112090582)_(112111440_?)dup | 324 | APC | Uncertain significance | -1 | RCV000549344; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090582 | 112111440 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.(?_112090582)_(112137086_?)dup | 324 | APC | Likely pathogenic | -1 | RCV001378396; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090582 | 112137086 | na | na | -1 | - | | |
NC_000005.9:g.(?_112090582)_(112157694_?)dup | 324 | APC | Likely pathogenic | -1 | RCV001378245; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090582 | 112157694 | na | na | -1 | - | | |
NM_000038.6(APC):c.-2_135+1274del | 324 | APC | Pathogenic | -1 | RCV001355291; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090586 | 112091996 | AGGATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGATGGAGAACTCAAATCTTCGACAAGAGCTAGAAGATAATTCCAATCATCTTACAAA | A | 112090585 | - | | |
NC_000005.10:g.(?_112754891)_(112767400_?)del | 324 | APC | Pathogenic | -1 | RCV001033106|RCV001873435; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090588 | 112103097 | na | na | -1 | - | | |
NC_000005.10:g.(?_112754891)_(112767400_?)dup | 324 | APC | Likely pathogenic | -1 | RCV001031137|RCV001862441; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090588 | 112103097 | na | na | -1 | - | | |
NC_000005.10:g.(?_112754891)_(112775747_?)dup | 324 | APC | Uncertain significance | -1 | RCV001032858|RCV001862454; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090588 | 112111444 | na | na | -1 | - | | |
NC_000005.9:g.(?_112090588)_(112179823_?)del | 324 | APC | Pathogenic | -1 | RCV001385948; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090588 | 112179823 | na | na | -1 | - | | |
NC_000005.9:g.(?_112090588)_(112179823_?)dup | 324 | APC | Uncertain significance | -1 | RCV001899670; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090588 | 112179823 | na | na | -1 | - | | |
NM_000038.6(APC):c.4G>A (p.Ala2Thr) | 324 | APC | Uncertain significance | rs569523442 | RCV001321032; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090591 | 112090591 | G | A | 112090591 | - | | |
NM_000038.6(APC):c.6T>C (p.Ala2=) | 324 | APC | Likely benign | -1 | RCV001404403; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090593 | 112090593 | T | C | 112090593 | - | | |
NM_000038.6(APC):c.10G>C (p.Ala4Pro) | 324 | APC | Uncertain significance | rs774219012 | RCV000466564|RCV000677758|RCV001017299|RCV001753908; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112090597 | 112090597 | G | C | NC_000005.9:g.112090597G>C | ClinGen:CA026700 | C0699790 114500 Carcinoma of colon; | |
NM_000038.6(APC):c.10G>T (p.Ala4Ser) | 324 | APC | Uncertain significance | rs774219012 | RCV000562185|RCV001042928; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090597 | 112090597 | G | T | 5:g.112090597G>T | ClinGen:CA16021356 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.14C>T (p.Ser5Leu) | 324 | APC | Uncertain significance | rs373718658 | RCV000229070|RCV000589294|RCV000775115; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112090601 | 112090601 | C | T | NC_000005.9:g.112090601C>T | ClinGen:CA028004 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.14C>A (p.Ser5Ter) | 324 | APC | Conflicting interpretations of pathogenicity | rs373718658 | RCV000474392|RCV001011888; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112090601 | 112090601 | C | A | NC_000005.9:g.112090601C>A | ClinGen:CA16021363 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.14del (p.Ser5fs) | 324 | APC | Pathogenic | rs1554067104 | RCV000646367; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090601 | 112090601 | TC | T | NC_000005.9:g.112090601del | ClinGen:CA658796564 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.15A>G (p.Ser5=) | 324 | APC | Conflicting interpretations of pathogenicity | rs1554067106 | RCV000561552|RCV001039653; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090602 | 112090602 | A | G | NC_000005.9:g.112090602A>G | ClinGen:CA445752302 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.15A>C (p.Ser5=) | 324 | APC | Likely benign | -1 | RCV001458844; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090602 | 112090602 | A | C | 112090602 | - | | |
NM_000038.6(APC):c.18T>C (p.Tyr6=) | 324 | APC | Likely benign | rs786202301 | RCV000165043|RCV000646687|RCV001435876; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090605 | 112090605 | T | C | 5:g.112090605T>C | ClinGen:CA006281 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.20A>G (p.Asp7Gly) | 324 | APC | Uncertain significance | rs1060503296 | RCV000471396; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090607 | 112090607 | A | G | NC_000005.9:g.112090607A>G | ClinGen:CA16021377 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.23A>G (p.Gln8Arg) | 324 | APC | Uncertain significance | rs1754782964 | RCV001037599; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090610 | 112090610 | A | G | 5:g.112090610A>G | - | | |
NM_000038.6(APC):c.32dup (p.Gln12fs) | 324 | APC | Pathogenic | rs1561444620 | RCV000772573|RCV000808751; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090616 | 112090617 | T | TA | NC_000005.9:g.112090619dup | - | | |
NM_000038.6(APC):c.35A>G (p.Gln12Arg) | 324 | APC | Uncertain significance | rs1754783765 | RCV001208336; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090622 | 112090622 | A | G | 5:g.112090622A>G | - | | |
NM_000038.6(APC):c.36A>G (p.Gln12=) | 324 | APC | Likely benign | rs864622288 | RCV000204299|RCV000433481|RCV000566559; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112090623 | 112090623 | A | G | 5:g.112090623A>G | ClinGen:CA348545 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.42G>A (p.Glu14=) | 324 | APC | Likely benign | rs1554067113 | RCV000565251|RCV002060538; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090629 | 112090629 | G | A | NC_000005.9:g.112090629G>A | ClinGen:CA445752364 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.45A>C (p.Ala15=) | 324 | APC | Likely benign | -1 | RCV001406866; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090632 | 112090632 | A | C | 112090632 | - | | |
NM_000038.6(APC):c.46C>T (p.Leu16=) | 324 | APC | Likely benign | rs1057520603 | RCV000428439|RCV000775897|RCV001423153; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090633 | 112090633 | C | T | 5:g.112090633C>T | ClinGen:CA16604756 | CN169374 not specified; | |
NM_000038.6(APC):c.46C>G (p.Leu16Val) | 324 | APC | Uncertain significance | -1 | RCV001948724; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090633 | 112090633 | C | G | 112090633 | - | | |
NM_000038.6(APC):c.47T>C (p.Leu16Pro) | 324 | APC | Uncertain significance | rs1581121721 | RCV000806064; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090634 | 112090634 | T | C | 5:g.112090634T>C | - | | |
NM_000038.6(APC):c.48G>A (p.Leu16=) | 324 | APC | Likely benign | -1 | RCV001501998; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090635 | 112090635 | G | A | 112090635 | - | | |
NM_000038.6(APC):c.52A>G (p.Met18Val) | 324 | APC | Uncertain significance | rs587782402 | RCV000131435|RCV000502641|RCV001350823; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090639 | 112090639 | A | G | 5:g.112090639A>G | ClinGen:CA010033 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.53T>A (p.Met18Lys) | 324 | APC | Uncertain significance | rs200960071 | RCV000034418|RCV000130887|RCV000701375; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090640 | 112090640 | T | A | 5:g.112090640T>A | ClinGen:CA010386 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.54G>A (p.Met18Ile) | 324 | APC | Uncertain significance | rs772873692 | RCV000465022|RCV000581033; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112090641 | 112090641 | G | A | NC_000005.9:g.112090641G>A | ClinGen:CA042134 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.55G>T (p.Glu19Ter) | 324 | APC | Pathogenic | rs1754786861 | RCV001245830; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090642 | 112090642 | G | T | 5:g.112090642G>T | - | | |
NM_000038.6(APC):c.56A>C (p.Glu19Ala) | 324 | APC | Uncertain significance | rs1754787233 | RCV001060545; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090643 | 112090643 | A | C | 5:g.112090643A>C | - | | |
NM_000038.6(APC):c.57G>C (p.Glu19Asp) | 324 | APC | Uncertain significance | rs1754787495 | RCV001065510; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090644 | 112090644 | G | C | 5:g.112090644G>C | - | | |
NM_000038.6(APC):c.57G>T (p.Glu19Asp) | 324 | APC | Uncertain significance | rs1754787495 | RCV001235616; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090644 | 112090644 | G | T | 5:g.112090644G>T | - | | |
NM_000038.6(APC):c.59A>C (p.Asn20Thr) | 324 | APC | Uncertain significance | -1 | RCV001997526; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090646 | 112090646 | A | C | 112090646 | - | | |
NM_000038.6(APC):c.60C>T (p.Asn20=) | 324 | APC | Likely benign | rs780155240 | RCV000166303|RCV000197299|RCV001697159|RCV001844061; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202|MedGen:CN169374 | 5 | 112090647 | 112090647 | C | T | 5:g.112090647C>T | ClinGen:CA010920 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.62C>G (p.Ser21Ter) | 324 | APC | Pathogenic | -1 | RCV001889840; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090649 | 112090649 | C | G | 112090649 | - | | |
NM_000038.6(APC):c.64A>G (p.Asn22Asp) | 324 | APC | Uncertain significance | rs1415062077 | RCV000562861|RCV000758737|RCV001211866; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090651 | 112090651 | A | G | NC_000005.9:g.112090651A>G | ClinGen:CA16021480 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.64A>C (p.Asn22His) | 324 | APC | Uncertain significance | rs1415062077 | RCV001039985; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090651 | 112090651 | A | C | 5:g.112090651A>C | - | | |
NM_000038.6(APC):c.67C>G (p.Leu23Val) | 324 | APC | Uncertain significance | rs372367350 | RCV000575621|RCV000646454|RCV001797110; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112090654 | 112090654 | C | G | NC_000005.9:g.112090654C>G | ClinGen:CA046202 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.70C>T (p.Arg24Ter) | 324 | APC | Pathogenic/Likely pathogenic | rs145945630 | RCV000164002|RCV000227124|RCV000482864|RCV000508297|RCV000763534|RCV000844605|RCV001353710; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290, Orphanet | 5 | 112090657 | 112090657 | C | T | NC_000005.9:g.112090657C>T | ClinGen:CA012843 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.71G>A (p.Arg24Gln) | 324 | APC | Uncertain significance | rs878853469 | RCV000230342|RCV001854825; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090658 | 112090658 | G | A | NC_000005.9:g.112090658G>A | ClinGen:CA10582272 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.71G>T (p.Arg24Leu) | 324 | APC | Uncertain significance | rs878853469 | RCV000707464|RCV001026152; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112090658 | 112090658 | G | T | NC_000005.9:g.112090658G>T | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.74_75del (p.Gln25fs) | 324 | APC | Pathogenic | rs1554067124 | RCV000536195|RCV000657188; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112090661 | 112090662 | CAA | C | NC_000005.9:g.112090661_112090662del | ClinGen:CA658657468 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.74A>C (p.Gln25Pro) | 324 | APC | Uncertain significance | -1 | RCV002031453; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090661 | 112090661 | A | C | 112090661 | - | | |
NM_000038.6(APC):c.75A>G (p.Gln25=) | 324 | APC | Likely benign | rs876659361 | RCV000222595|RCV000233328|RCV000433787; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374 | 5 | 112090662 | 112090662 | A | G | 5:g.112090662A>G | ClinGen:CA10578282 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.76G>C (p.Glu26Gln) | 324 | APC | Uncertain significance | rs1554067127 | RCV000566833|RCV001039073; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090663 | 112090663 | G | C | 5:g.112090663G>C | ClinGen:CA16021503 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.78G>A (p.Glu26=) | 324 | APC | Likely benign | rs1561444861 | RCV000773727|RCV000921715|RCV001488910; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090665 | 112090665 | G | A | NC_000005.9:g.112090665G>A | - | | |
NM_000038.6(APC):c.79C>T (p.Leu27=) | 324 | APC | Likely benign | rs786202128 | RCV000164787|RCV002053969; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090666 | 112090666 | C | T | 5:g.112090666C>T | ClinGen:CA014234 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.81A>C (p.Leu27=) | 324 | APC | Likely benign | rs759312196 | RCV001186757|RCV001499003; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090668 | 112090668 | A | C | 5:g.112090668A>C | - | | |
NM_000038.6(APC):c.81A>G (p.Leu27=) | 324 | APC | Likely benign | rs759312196 | RCV001187111|RCV002068459; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090668 | 112090668 | A | G | 5:g.112090668A>G | - | | |
NM_000038.6(APC):c.82G>A (p.Glu28Lys) | 324 | APC | Uncertain significance | rs1754792844 | RCV001340165; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090669 | 112090669 | G | A | 112090669 | - | | |
NM_000038.6(APC):c.83A>G (p.Glu28Gly) | 324 | APC | Uncertain significance | rs1754793089 | RCV001059335; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090670 | 112090670 | A | G | 5:g.112090670A>G | - | | |
NM_000038.6(APC):c.84A>G (p.Glu28=) | 324 | APC | Likely benign | rs1581121956 | RCV000944825|RCV001437301; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090671 | 112090671 | A | G | 5:g.112090671A>G | - | | |
NM_000038.6(APC):c.85G>T (p.Asp29Tyr) | 324 | APC | Uncertain significance | rs1195191600 | RCV001071255; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090672 | 112090672 | G | T | 5:g.112090672G>T | - | | |
NM_000038.6(APC):c.86A>T (p.Asp29Val) | 324 | APC | Uncertain significance | rs1754793886 | RCV001046575; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090673 | 112090673 | A | T | 5:g.112090673A>T | - | | |
NM_000038.6(APC):c.86A>C (p.Asp29Ala) | 324 | APC | Uncertain significance | rs1754793886 | RCV001215830; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090673 | 112090673 | A | C | 5:g.112090673A>C | - | | |
NM_000038.6(APC):c.86A>G (p.Asp29Gly) | 324 | APC | Uncertain significance | rs1754793886 | RCV001294673; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090673 | 112090673 | A | G | 112090673 | - | | |
NM_000038.6(APC):c.87T>G (p.Asp29Glu) | 324 | APC | Uncertain significance | rs1561444926 | RCV000693074; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090674 | 112090674 | T | G | 5:g.112090674T>G | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.88A>G (p.Asn30Asp) | 324 | APC | Uncertain significance | rs1754795045 | RCV001053884; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090675 | 112090675 | A | G | 5:g.112090675A>G | - | | |
NM_000038.6(APC):c.94A>G (p.Asn32Asp) | 324 | APC | Uncertain significance | rs587781972 | RCV000130360|RCV000474411; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090681 | 112090681 | A | G | 5:g.112090681A>G | ClinGen:CA016000 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.94A>T (p.Asn32Tyr) | 324 | APC | Uncertain significance | rs587781972 | RCV000562593|RCV001213289; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090681 | 112090681 | A | T | 5:g.112090681A>T | ClinGen:CA16021546 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.95A>G (p.Asn32Ser) | 324 | APC | Conflicting interpretations of pathogenicity | rs539108537 | RCV000202147|RCV000204603|RCV000569857|RCV000677775|RCV000656743|RCV001762426; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356|MedGen:CN517202|MONDO:MONDO:0005575,MedGen:C0346629, | 5 | 112090682 | 112090682 | A | G | 5:g.112090682A>G | ClinGen:CA051346 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.95A>T (p.Asn32Ile) | 324 | APC | Uncertain significance | rs539108537 | RCV001343537; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090682 | 112090682 | A | T | 112090682 | - | | |
NM_000038.6(APC):c.102T>C (p.Leu34=) | 324 | APC | Likely benign | rs1581122045 | RCV000941456|RCV001438173; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090689 | 112090689 | T | C | 5:g.112090689T>C | - | | |
NM_000038.6(APC):c.104C>A (p.Thr35Lys) | 324 | APC | Uncertain significance | rs1581122062 | RCV000817688; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090691 | 112090691 | C | A | 5:g.112090691C>A | - | | |
NM_000038.6(APC):c.108del (p.Lys36fs) | 324 | APC | Pathogenic | rs1554067141 | RCV000646412; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090692 | 112090692 | CA | C | 5:g.112090692_112090692del | ClinGen:CA658796565 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.105A>C (p.Thr35=) | 324 | APC | Likely benign | rs1581122087 | RCV000977323|RCV001491498; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090692 | 112090692 | A | C | 5:g.112090692A>C | - | | |
NM_000038.6(APC):c.111G>T (p.Leu37=) | 324 | APC | Likely benign | rs1554067149 | RCV000977864|RCV001395008; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090698 | 112090698 | G | T | 5:g.112090698G>T | - | | |
NM_000038.6(APC):c.113A>C (p.Glu38Ala) | 324 | APC | Uncertain significance | rs1754800670 | RCV001216196; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090700 | 112090700 | A | C | 5:g.112090700A>C | - | | |
NM_000038.6(APC):c.115A>G (p.Thr39Ala) | 324 | APC | Uncertain significance | rs1581122131 | RCV000817243; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090702 | 112090702 | A | G | 5:g.112090702A>G | - | | |
NM_000038.6(APC):c.116C>G (p.Thr39Ser) | 324 | APC | Uncertain significance | rs1561445008 | RCV000776690|RCV001345805; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090703 | 112090703 | C | G | NC_000005.9:g.112090703C>G | - | | |
NM_000038.6(APC):c.116C>A (p.Thr39Asn) | 324 | APC | Uncertain significance | -1 | RCV002040303; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090703 | 112090703 | C | A | 112090703 | - | | |
NM_000038.6(APC):c.119A>G (p.Glu40Gly) | 324 | APC | Uncertain significance | -1 | RCV001899933; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090706 | 112090706 | A | G | 112090706 | - | | |
NM_000038.6(APC):c.120G>A (p.Glu40=) | 324 | APC | Benign/Likely benign | rs142720069 | RCV000123674|RCV000201994|RCV000340295|RCV000589882|RCV001082954; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:CN239210|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090707 | 112090707 | G | A | NC_000005.9:g.112090707G>A | ClinGen:CA004090 | CN239210 APC-Associated Polyposis Disorders; | |
NM_000038.6(APC):c.121G>A (p.Ala41Thr) | 324 | APC | Uncertain significance | rs1554067157 | RCV000583824|RCV000689611; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090708 | 112090708 | G | A | 5:g.112090708G>A | ClinGen:CA16021606 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.121G>T (p.Ala41Ser) | 324 | APC | Uncertain significance | rs1554067157 | RCV000809176; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090708 | 112090708 | G | T | 5:g.112090708G>T | - | | |
NM_000038.6(APC):c.123A>G (p.Ala41=) | 324 | APC | Likely benign | rs1561445056 | RCV000777406|RCV000978212; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090710 | 112090710 | A | G | NC_000005.9:g.112090710A>G | - | | |
NM_000038.6(APC):c.124T>G (p.Ser42Ala) | 324 | APC | Uncertain significance | rs1754803343 | RCV001068849|RCV001806012; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112090711 | 112090711 | T | G | 5:g.112090711T>G | - | | |
NM_000038.6(APC):c.125C>A (p.Ser42Tyr) | 324 | APC | Uncertain significance | rs781207121 | RCV001318051; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090712 | 112090712 | C | A | 112090712 | - | | |
NM_000038.6(APC):c.130A>G (p.Met44Val) | 324 | APC | Uncertain significance | rs1424437002 | RCV001063169; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090717 | 112090717 | A | G | 5:g.112090717A>G | - | | |
NM_000038.6(APC):c.132dup (p.Lys45fs) | 324 | APC | Pathogenic | rs1561445097 | RCV000703121; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090718 | 112090719 | T | TG | 5:g.112090718_112090719insG | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.135G>A (p.Lys45=) | 324 | APC | Uncertain significance | rs1754804397 | RCV001064744; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090722 | 112090722 | G | A | 5:g.112090722G>A | - | | |
NM_000038.6(APC):c.135+1G>T | 324 | APC | Likely pathogenic | rs750508765 | RCV000570470|RCV000646409|RCV000758720; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112090723 | 112090723 | G | T | NC_000005.9:g.112090723G>T | ClinGen:CA360617454 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.135+3A>T | 324 | APC | Uncertain significance | rs1754805091 | RCV001303519; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090725 | 112090725 | A | T | 112090725 | - | | |
NM_000038.6(APC):c.135+7A>G | 324 | APC | Likely benign | -1 | RCV001464353; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090729 | 112090729 | A | G | 112090729 | - | | |
NM_000038.6(APC):c.135+8G>C | 324 | APC | Conflicting interpretations of pathogenicity | rs1554067166 | RCV000581428|RCV000646568; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090730 | 112090730 | G | C | NC_000005.9:g.112090730G>C | ClinGen:CA658683397 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.135+12G>T | 324 | APC | Likely benign | rs1057524184 | RCV000440035|RCV000775921|RCV002063608; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112090734 | 112090734 | G | T | 5:g.112090734G>T | ClinGen:CA16604641 | CN169374 not specified; | |
NM_000038.6(APC):c.136-20T>C | 324 | APC | Likely benign | rs1219730982 | RCV000581295|RCV002060556; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102003 | 112102003 | T | C | 5:g.112102003T>C | ClinGen:CA561903216 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.136-19A>G | 324 | APC | Likely benign | rs778690797 | RCV000583413|RCV002060555; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102004 | 112102004 | A | G | 5:g.112102004A>G | ClinGen:CA027282 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.136-18T>C | 324 | APC | Likely benign | rs1261769588 | RCV000583883|RCV002061963; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102005 | 112102005 | T | C | 5:g.112102005T>C | ClinGen:CA561903217 | CN169374 not specified; | |
NM_000038.6(APC):c.136-16G>T | 324 | APC | Likely benign | -1 | RCV002152249; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102007 | 112102007 | G | T | 112102007 | - | | |
NM_000038.6(APC):c.136-12T>C | 324 | APC | Likely benign | rs1554069478 | RCV000582406|RCV001637091|RCV002060554; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102011 | 112102011 | T | C | NC_000005.9:g.112102011T>C | ClinGen:CA658683398 | C0027672 Hereditary cancer-predisposing syndrome; | |
NC_000005.10:g.(?_112766316)_(112844136_?)del | 324 | APC | Pathogenic | -1 | RCV000801359; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102013 | 112179833 | na | na | | - | | |
NC_000005.10:g.(?_112766316)_(112844136_?)dup | 324 | APC | Uncertain significance | -1 | RCV001032267; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102013 | 112179833 | na | na | -1 | - | | |
NC_000005.9:g.(?_112102013)_(112179823_?)dup | 324 | APC | Uncertain significance | -1 | RCV002018025; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102013 | 112179823 | na | na | -1 | - | | |
NC_000005.9:g.(?_112102013)_(112103097_?)del | 324 | APC | Pathogenic | -1 | RCV001903135; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102013 | 112103097 | na | na | -1 | - | | |
NC_000005.9:g.(?_112102013)_(112179823_?)del | 324 | APC | Pathogenic | -1 | RCV001964649; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102013 | 112179823 | na | na | -1 | - | | |
NM_000038.6(APC):c.136-7T>C | 324 | APC | Likely benign | -1 | RCV002095782; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102016 | 112102016 | T | C | 112102016 | - | | |
NM_000038.6(APC):c.136-5A>G | 324 | APC | Conflicting interpretations of pathogenicity | rs1581159924 | RCV000981511|RCV001011054; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102018 | 112102018 | A | G | 5:g.112102018A>G | - | | |
NM_000038.6(APC):c.136-4A>G | 324 | APC | Uncertain significance | rs1297141781 | RCV001187846|RCV001296916; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102019 | 112102019 | A | G | 5:g.112102019A>G | - | | |
NM_000038.6(APC):c.136-3C>T | 324 | APC | Conflicting interpretations of pathogenicity | rs1060503361 | RCV000466444|RCV001179769|RCV001577551; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112102020 | 112102020 | C | T | NC_000005.9:g.112102020C>T | ClinGen:CA16611599 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.136-3C>A | 324 | APC | Uncertain significance | rs1060503361 | RCV001216758; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102020 | 112102020 | C | A | 5:g.112102020C>A | - | | |
NM_000038.6(APC):c.136-2A>G | 324 | APC | Pathogenic/Likely pathogenic | rs886039625 | RCV000254746|RCV001064575; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102021 | 112102021 | A | G | 5:g.112102021A>G | ClinGen:CA10588375 | CN517202 not provided; | |
NM_000038.6(APC):c.136-1G>A | 324 | APC | Likely pathogenic | rs1554069481 | RCV000574643|RCV000646364; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102022 | 112102022 | G | A | 5:g.112102022G>A | ClinGen:CA360617462 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.137_139del (p.Glu46del) | 324 | APC | Uncertain significance | -1 | RCV001884763; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102023 | 112102025 | GGAA | G | 112102022 | - | | |
NM_000038.6(APC):c.138A>C (p.Glu46Asp) | 324 | APC | Uncertain significance | rs1429803547 | RCV000823330; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102025 | 112102025 | A | C | 5:g.112102025A>C | - | | |
NM_000038.6(APC):c.138A>G (p.Glu46=) | 324 | APC | Conflicting interpretations of pathogenicity | rs1429803547 | RCV001011330|RCV001862777; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102025 | 112102025 | A | G | 5:g.112102025A>G | - | | |
NM_000038.6(APC):c.139G>A (p.Val47Ile) | 324 | APC | Uncertain significance | rs969611536 | RCV000462825|RCV000775730; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102026 | 112102026 | G | A | NC_000005.9:g.112102026G>A | ClinGen:CA16021649 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.147_150del (p.Lys49fs) | 324 | APC | Pathogenic | rs587781694 | RCV000129859|RCV000502854|RCV000497263|RCV000552842|RCV001778749; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0002032,MedGen:C0699790|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733 | 5 | 112102032 | 112102035 | TAAAC | T | 5:g.112102032_112102035del | ClinGen:CA005200 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.146A>C (p.Lys49Thr) | 324 | APC | Uncertain significance | rs587781587 | RCV000563070|RCV000693872|RCV001260373; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374 | 5 | 112102033 | 112102033 | A | C | NC_000005.9:g.112102033A>C | ClinGen:CA16021664 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.148_149del (p.Gln50fs) | 324 | APC | Pathogenic | -1 | RCV001936572; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102034 | 112102035 | AAC | A | 112102033 | - | | |
NM_000038.6(APC):c.147A>G (p.Lys49=) | 324 | APC | Likely benign | -1 | RCV002162058; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102034 | 112102034 | A | G | 112102034 | - | | |
NM_000038.6(APC):c.148C>G (p.Gln50Glu) | 324 | APC | Uncertain significance | -1 | RCV001359485; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102035 | 112102035 | C | G | 112102035 | - | | |
NM_000038.6(APC):c.148C>T (p.Gln50Ter) | 324 | APC | Pathogenic | -1 | RCV001387446; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102035 | 112102035 | C | T | 112102035 | - | | |
NM_000038.6(APC):c.150A>G (p.Gln50=) | 324 | APC | Likely benign | -1 | RCV002095466; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102037 | 112102037 | A | G | 112102037 | - | | |
NM_000038.6(APC):c.151C>T (p.Leu51=) | 324 | APC | Likely benign | rs1554069497 | RCV000563260|RCV001455213; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102038 | 112102038 | C | T | 5:g.112102038C>T | ClinGen:CA445752982 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.151C>G (p.Leu51Val) | 324 | APC | Uncertain significance | rs1554069497 | RCV001233617; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102038 | 112102038 | C | G | 5:g.112102038C>G | - | | |
NM_000038.6(APC):c.152T>A (p.Leu51Gln) | 324 | APC | Uncertain significance | rs1756317618 | RCV001037451; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102039 | 112102039 | T | A | 5:g.112102039T>A | - | | |
NM_000038.6(APC):c.152T>C (p.Leu51Pro) | 324 | APC | Uncertain significance | -1 | RCV002047433; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102039 | 112102039 | T | C | 112102039 | - | | |
NM_000038.6(APC):c.153A>G (p.Leu51=) | 324 | APC | Likely benign | rs1554069500 | RCV000569850|RCV000978940; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102040 | 112102040 | A | G | NC_000005.9:g.112102040A>G | ClinGen:CA445752984 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.156del (p.Gly53fs) | 324 | APC | Pathogenic | rs1581160123 | RCV000810917|RCV001356443; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112102042 | 112102042 | CA | C | 5:g.112102042_112102042del | - | | |
NM_000038.6(APC):c.156A>C (p.Gln52His) | 324 | APC | Uncertain significance | -1 | RCV001368150; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102043 | 112102043 | A | C | 112102043 | - | | |
NM_000038.6(APC):c.156A>G (p.Gln52=) | 324 | APC | Uncertain significance | -1 | RCV001894506; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102043 | 112102043 | A | G | 112102043 | - | | |
NM_000038.6(APC):c.158G>T (p.Gly53Val) | 324 | APC | Uncertain significance | rs772787939 | RCV001041181; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102045 | 112102045 | G | T | 5:g.112102045G>T | - | | |
NM_000038.6(APC):c.161G>A (p.Ser54Asn) | 324 | APC | Uncertain significance | rs1756321078 | RCV001063732; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102048 | 112102048 | G | A | 5:g.112102048G>A | - | | |
NM_000038.6(APC):c.163A>G (p.Ile55Val) | 324 | APC | Uncertain significance | rs760158426 | RCV000564524|RCV000690193; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102050 | 112102050 | A | G | NC_000005.9:g.112102050A>G | ClinGen:CA028920 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.163_164insG (p.Ile55fs) | 324 | APC | Pathogenic | rs1554069524 | RCV000571383|RCV001060106; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102050 | 112102051 | A | AG | NC_000005.9:g.112102050_112102051insG | ClinGen:CA658657469 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.164T>C (p.Ile55Thr) | 324 | APC | Uncertain significance | rs1554069530 | RCV000646419; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102051 | 112102051 | T | C | 5:g.112102051T>C | ClinGen:CA16021704 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.170_175del (p.Asp57_Glu58del) | 324 | APC | Uncertain significance | rs1167769425 | RCV000773868|RCV001856071; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102052 | 112102057 | TTGAAGA | T | NC_000005.9:g.112102057_112102062del | - | | |
NM_000038.6(APC):c.165T>A (p.Ile55=) | 324 | APC | Likely benign | -1 | RCV002203853; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102052 | 112102052 | T | A | 112102052 | - | | |
NM_000038.6(APC):c.168A>G (p.Glu56=) | 324 | APC | Likely benign | rs1554069532 | RCV000568160|RCV002060444; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102055 | 112102055 | A | G | NC_000005.9:g.112102055A>G | ClinGen:CA445752995 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.168A>C (p.Glu56Asp) | 324 | APC | Uncertain significance | -1 | RCV001981738; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102055 | 112102055 | A | C | 112102055 | - | | |
NM_000038.6(APC):c.170A>T (p.Asp57Val) | 324 | APC | Uncertain significance | rs794729227 | RCV000184048|RCV000232299; | N | MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102057 | 112102057 | A | T | NC_000005.9:g.112102057A>T | ClinGen:CA005471 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.171T>C (p.Asp57=) | 324 | APC | Likely benign | rs770894012 | RCV000205156|RCV000443847|RCV000567696; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102058 | 112102058 | T | C | 5:g.112102058T>C | ClinGen:CA029139 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.172G>A (p.Glu58Lys) | 324 | APC | Uncertain significance | -1 | RCV001891011; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102059 | 112102059 | G | A | 112102059 | - | | |
NM_000038.6(APC):c.175G>A (p.Ala59Thr) | 324 | APC | Uncertain significance | rs1554069536 | RCV000573197|RCV001853820; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102062 | 112102062 | G | A | NC_000005.9:g.112102062G>A | ClinGen:CA16021729 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.176C>G (p.Ala59Gly) | 324 | APC | Uncertain significance | -1 | RCV002027269; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102063 | 112102063 | C | G | 112102063 | - | | |
NM_000038.6(APC):c.178A>G (p.Met60Val) | 324 | APC | Uncertain significance | rs1421856417 | RCV001187098|RCV001223712; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102065 | 112102065 | A | G | 5:g.112102065A>G | - | | |
NM_000038.6(APC):c.180G>A (p.Met60Ile) | 324 | APC | Uncertain significance | rs980662480 | RCV000646347; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102067 | 112102067 | G | A | NC_000005.9:g.112102067G>A | ClinGen:CA16021741 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.181G>A (p.Ala61Thr) | 324 | APC | Conflicting interpretations of pathogenicity | rs786201989 | RCV000164557|RCV000646277|RCV001697165; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112102068 | 112102068 | G | A | 5:g.112102068G>A | ClinGen:CA006037 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.181G>C (p.Ala61Pro) | 324 | APC | Uncertain significance | rs786201989 | RCV001013304|RCV001299090; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102068 | 112102068 | G | C | 5:g.112102068G>C | - | | |
NM_000038.6(APC):c.181G>T (p.Ala61Ser) | 324 | APC | Uncertain significance | rs786201989 | RCV001201837; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102068 | 112102068 | G | T | 5:g.112102068G>T | - | | |
NM_000038.6(APC):c.184TCT[1] (p.Ser63del) | 324 | APC | Uncertain significance | rs876660575 | RCV000220184|RCV000646470|RCV001753679; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112102069 | 112102071 | GCTT | G | 5:g.112102069_112102071del | ClinGen:CA10578283 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.184T>C (p.Ser62Pro) | 324 | APC | Uncertain significance | -1 | RCV001967395; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102071 | 112102071 | T | C | 112102071 | - | | |
NM_000038.6(APC):c.191G>A (p.Gly64Glu) | 324 | APC | Uncertain significance | rs878853421 | RCV000229258|RCV001854806; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102078 | 112102078 | G | A | 5:g.112102078G>A | ClinGen:CA10582273 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.193C>A (p.Gln65Lys) | 324 | APC | Uncertain significance | rs863225320 | RCV000202251|RCV000587903|RCV001857742; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102080 | 112102080 | C | A | NC_000005.9:g.112102080C>A | ClinGen:CA279799 | CN517202 not provided; | |
NM_000038.6(APC):c.194A>G (p.Gln65Arg) | 324 | APC | Uncertain significance | -1 | RCV001993673; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102081 | 112102081 | A | G | 112102081 | - | | |
NM_000038.6(APC):c.195G>C (p.Gln65His) | 324 | APC | Uncertain significance | rs1554069548 | RCV000590138|RCV001853964; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102082 | 112102082 | G | C | NC_000005.9:g.112102082G>C | ClinGen:CA16021768 | CN517202 not provided; | |
NM_000038.6(APC):c.195G>A (p.Gln65=) | 324 | APC | Likely benign | -1 | RCV001506948; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102082 | 112102082 | G | A | 112102082 | - | | |
NM_000038.6(APC):c.196A>G (p.Ile66Val) | 324 | APC | Uncertain significance | rs764962781 | RCV001050298; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102083 | 112102083 | A | G | 5:g.112102083A>G | - | | |
NM_000038.6(APC):c.196del (p.Ile66fs) | 324 | APC | Pathogenic | -1 | RCV002007386; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102083 | 112102083 | GA | G | 112102082 | - | | |
NM_000038.6(APC):c.197T>C (p.Ile66Thr) | 324 | APC | Uncertain significance | rs1581160506 | RCV000797898|RCV001013942; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102084 | 112102084 | T | C | 5:g.112102084T>C | - | | |
NM_000038.6(APC):c.200A>C (p.Asp67Ala) | 324 | APC | Uncertain significance | -1 | RCV001882265; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102087 | 112102087 | A | C | 112102087 | - | | |
NM_000038.6(APC):c.203del (p.Leu68fs) | 324 | APC | Pathogenic | rs1756331894 | RCV001203172; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102088 | 112102088 | AT | A | 5:g.112102088_112102088del | - | | |
NM_000038.6(APC):c.202T>A (p.Leu68Ile) | 324 | APC | Uncertain significance | rs1756332227 | RCV001223915; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102089 | 112102089 | T | A | 5:g.112102089T>A | - | | |
NM_000038.6(APC):c.203T>G (p.Leu68Ter) | 324 | APC | Pathogenic | rs1554069549 | RCV000501918|RCV001851394; | N | MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102090 | 112102090 | T | G | NC_000005.9:g.112102090T>G | ClinGen:CA16021788 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.206T>C (p.Leu69Ser) | 324 | APC | Uncertain significance | -1 | RCV001366798|RCV001776229; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112102093 | 112102093 | T | C | 112102093 | - | | |
NM_000038.6(APC):c.206T>A (p.Leu69Ter) | 324 | APC | Pathogenic | -1 | RCV001946495; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102093 | 112102093 | T | A | 112102093 | - | | |
NM_000038.6(APC):c.207A>G (p.Leu69=) | 324 | APC | Likely benign | rs1554069552 | RCV000646623; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102094 | 112102094 | A | G | 5:g.112102094A>G | ClinGen:CA445753043 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.209A>G (p.Glu70Gly) | 324 | APC | Uncertain significance | rs863224539 | RCV000197071; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102096 | 112102096 | A | G | NC_000005.9:g.112102096A>G | ClinGen:CA336960 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.210G>A (p.Glu70=) | 324 | APC | Likely benign | rs761957941 | RCV000881851|RCV001014463|RCV001454184; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102097 | 112102097 | G | A | 5:g.112102097G>A | - | | |
NM_000038.6(APC):c.211C>A (p.Arg71Ser) | 324 | APC | Uncertain significance | rs767741687 | RCV000467870|RCV000569830|RCV000759423|RCV000779735; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MedGen:CN169374 | 5 | 112102098 | 112102098 | C | A | NC_000005.9:g.112102098C>A | ClinGen:CA030831 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.211C>T (p.Arg71Cys) | 324 | APC | Uncertain significance | rs767741687 | RCV000588634|RCV000823066; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102098 | 112102098 | C | T | NC_000005.9:g.112102098C>T | ClinGen:CA16021805 | CN517202 not provided; | |
NM_000038.6(APC):c.212G>A (p.Arg71His) | 324 | APC | Uncertain significance | rs750503329 | RCV000474741|RCV000479660|RCV000571928|RCV001192982; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 5 | 112102099 | 112102099 | G | A | NC_000005.9:g.112102099G>A | ClinGen:CA030877 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.212G>T (p.Arg71Leu) | 324 | APC | Uncertain significance | -1 | RCV002000780; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102099 | 112102099 | G | T | 112102099 | - | | |
NM_000038.6(APC):c.216T>C (p.Leu72=) | 324 | APC | Likely benign | rs1580324752 | RCV000871827|RCV001014635; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102103 | 112102103 | T | C | 5:g.112102103T>C | - | | |
NM_000038.6(APC):c.219del (p.Glu74fs) | 324 | APC | Pathogenic | rs1756336297 | RCV001246797|RCV001800975; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112102104 | 112102104 | TA | T | 5:g.112102104_112102104del | - | | |
NM_000038.6(APC):c.217A>G (p.Lys73Glu) | 324 | APC | Uncertain significance | -1 | RCV001937306; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102104 | 112102104 | A | G | 112102104 | - | | |
NM_000038.6(APC):c.219A>G (p.Lys73=) | 324 | APC | Uncertain significance | -1 | RCV001759213|RCV001868711; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102106 | 112102106 | A | G | 112102106 | - | | |
NM_000038.6(APC):c.220G>T (p.Glu74Ter) | 324 | APC | Pathogenic/Likely pathogenic | rs876658941 | RCV000215333|RCV000254875|RCV000459175|RCV000501460; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0002032,MedGen:C0699790 | 5 | 112102107 | 112102107 | G | T | 5:g.112102107G>T | ClinGen:CA10578284 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.220G>C (p.Glu74Gln) | 324 | APC | Uncertain significance | rs876658941 | RCV000555556|RCV001290660; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374 | 5 | 112102107 | 112102107 | G | C | 5:g.112102107G>C | ClinGen:CA16021823 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.220G>A (p.Glu74Lys) | 324 | APC | Uncertain significance | rs876658941 | RCV000568191|RCV001858222; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102107 | 112102107 | G | A | 5:g.112102107G>A | ClinGen:CA16021822 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.220+1G>A | 324 | APC | Pathogenic | rs1554069570 | RCV000499663; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102108 | 112102108 | G | A | NC_000005.9:g.112102108G>A | ClinGen:CA360617465 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.220+2T>A | 324 | APC | Pathogenic/Likely pathogenic | rs587781809 | RCV000130080|RCV000202191|RCV000231290|RCV000503701; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0002032,MedGen:C0699790 | 5 | 112102109 | 112102109 | T | A | 5:g.112102109T>A | ClinGen:CA007244 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.220+4G>A | 324 | APC | Conflicting interpretations of pathogenicity | rs973491846 | RCV000582451|RCV000806431; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102111 | 112102111 | G | A | NC_000005.9:g.112102111G>A | ClinGen:CA124975086 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.220+5A>G | 324 | APC | Uncertain significance | rs1554069584 | RCV000540822; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102112 | 112102112 | A | G | NC_000005.9:g.112102112A>G | ClinGen:CA658657471 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.220+5A>T | 324 | APC | Uncertain significance | -1 | RCV002007069; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102112 | 112102112 | A | T | 112102112 | - | | |
NM_000038.6(APC):c.220+6T>C | 324 | APC | Uncertain significance | rs1756339861 | RCV001346766; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102113 | 112102113 | T | C | 112102113 | - | | |
NM_000038.6(APC):c.220+12_220+14del | 324 | APC | Likely benign | rs864622493 | RCV000206367|RCV001503643; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102117 | 112102119 | TAAA | T | NC_000005.9:g.112102119_112102121del | ClinGen:CA350411 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.220+13A>T | 324 | APC | Likely benign | -1 | RCV002162897; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102120 | 112102120 | A | T | 112102120 | - | | |
NM_000038.6(APC):c.220+16G>T | 324 | APC | Likely benign | rs756214797 | RCV000776385|RCV002067328; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102123 | 112102123 | G | T | NC_000005.9:g.112102123G>T | - | | |
NM_000038.6(APC):c.220+16G>C | 324 | APC | Likely benign | -1 | RCV002151073; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102123 | 112102123 | G | C | 112102123 | - | | |
NM_000038.6(APC):c.220+18G>A | 324 | APC | Conflicting interpretations of pathogenicity | rs927125994 | RCV001178648|RCV002067892; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102125 | 112102125 | G | A | 5:g.112102125G>A | - | | |
NM_000038.6(APC):c.220+19T>C | 324 | APC | Likely benign | rs754354718 | RCV000583115|RCV002060565; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102126 | 112102126 | T | C | 5:g.112102126T>C | ClinGen:CA031007 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.221-16T>C | 324 | APC | Likely benign | rs1046591128 | RCV000410932|RCV001183272; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102870 | 112102870 | T | C | NC_000005.9:g.112102870T>C | ClinGen:CA16042083 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.221-11A>G | 324 | APC | Likely benign | rs531060253 | RCV000775116|RCV001720139|RCV002062485; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102875 | 112102875 | A | G | 5:g.112102875A>G | ClinGen:CA16604757 | CN169374 not specified; | |
NM_000038.6(APC):c.221-11A>T | 324 | APC | Likely benign | rs531060253 | RCV000583455|RCV002060566; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102875 | 112102875 | A | T | 5:g.112102875A>T | ClinGen:CA124975587 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.221-5T>C | 324 | APC | Conflicting interpretations of pathogenicity | rs1057524155 | RCV000438575|RCV000588735|RCV001078711|RCV001805053; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102881 | 112102881 | T | C | 5:g.112102881T>C | ClinGen:CA16604759 | CN517202 not provided; | |
NM_000038.6(APC):c.221-5T>G | 324 | APC | Uncertain significance | rs1057524155 | RCV000529587; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102881 | 112102881 | T | G | 5:g.112102881T>G | ClinGen:CA658657472 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.221-2A>G | 324 | APC | Pathogenic/Likely pathogenic | rs786201291 | RCV000163246|RCV000476651|RCV000480238; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112102884 | 112102884 | A | G | 5:g.112102884A>G | ClinGen:CA007277 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.221-2A>T | 324 | APC | Likely pathogenic | -1 | RCV002027646; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102884 | 112102884 | A | T | 112102884 | - | | |
NM_000038.6(APC):c.221-1G>A | 324 | APC | Likely pathogenic | rs863225327 | RCV000201979|RCV000491712|RCV001237158; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102885 | 112102885 | G | A | NC_000005.9:g.112102885G>A | ClinGen:CA279668 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.221-1G>C | 324 | APC | Pathogenic/Likely pathogenic | rs863225327 | RCV000213314|RCV000468960; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102885 | 112102885 | G | C | 5:g.112102885G>C | ClinGen:CA10578285 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.221A>C (p.Glu74Ala) | 324 | APC | Conflicting interpretations of pathogenicity | rs773347338 | RCV000484103|RCV000776474|RCV001079472; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102886 | 112102886 | A | C | 5:g.112102886A>C | ClinGen:CA031365 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.222G>C (p.Glu74Asp) | 324 | APC | Uncertain significance | rs1561463688 | RCV000701528; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102887 | 112102887 | G | C | 5:g.112102887G>C | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.222G>T (p.Glu74Asp) | 324 | APC | Uncertain significance | -1 | RCV001968365; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102887 | 112102887 | G | T | 112102887 | - | | |
NM_000038.6(APC):c.223C>T (p.Leu75Phe) | 324 | APC | Uncertain significance | rs760790156 | RCV000772849|RCV001856031; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102888 | 112102888 | C | T | NC_000005.9:g.112102888C>T | - | | |
NM_000038.6(APC):c.223C>G (p.Leu75Val) | 324 | APC | Uncertain significance | rs760790156 | RCV000798088; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102888 | 112102888 | C | G | 5:g.112102888C>G | - | | |
NM_000038.6(APC):c.224T>C (p.Leu75Pro) | 324 | APC | Uncertain significance | rs995081817 | RCV000532341|RCV001014931; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102889 | 112102889 | T | C | NC_000005.9:g.112102889T>C | ClinGen:CA16021831 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.226A>C (p.Asn76His) | 324 | APC | Uncertain significance | rs1756428709 | RCV001207321; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102891 | 112102891 | A | C | 5:g.112102891A>C | - | | |
NM_000038.6(APC):c.228C>T (p.Asn76=) | 324 | APC | Likely benign | rs766325173 | RCV000198292|RCV000571232|RCV001705142|RCV001824678; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MedGen:CN169374 | 5 | 112102893 | 112102893 | C | T | NC_000005.9:g.112102893C>T | ClinGen:CA031634 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.229T>G (p.Leu77Val) | 324 | APC | Uncertain significance | rs1756429303 | RCV001345588; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102894 | 112102894 | T | G | 112102894 | - | | |
NM_000038.6(APC):c.233_236del (p.Asp78fs) | 324 | APC | Pathogenic | rs1064793020 | RCV000481173|RCV000492026|RCV000535814|RCV001778973; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733 | 5 | 112102895 | 112102898 | TTAGA | T | NC_000005.9:g.112102898_112102901del | ClinGen:CA16618066 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.230T>A (p.Leu77Ter) | 324 | APC | Pathogenic | -1 | RCV001358256; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102895 | 112102895 | T | A | 112102895 | - | | |
NM_000038.6(APC):c.231A>G (p.Leu77=) | 324 | APC | Likely benign | -1 | RCV001403077; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102896 | 112102896 | A | G | 112102896 | - | | |
NM_000038.6(APC):c.232G>A (p.Asp78Asn) | 324 | APC | Uncertain significance | rs1253209514 | RCV001015210|RCV001224283; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102897 | 112102897 | G | A | 5:g.112102897G>A | - | | |
NM_000038.6(APC):c.233A>C (p.Asp78Ala) | 324 | APC | Uncertain significance | rs562833260 | RCV000573725|RCV000646512; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102898 | 112102898 | A | C | 5:g.112102898A>C | ClinGen:CA031709 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.235A>G (p.Ser79Gly) | 324 | APC | Uncertain significance | rs1001856924 | RCV000773537|RCV001223504; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102900 | 112102900 | A | G | NC_000005.9:g.112102900A>G | - | | |
NM_000038.6(APC):c.235A>C (p.Ser79Arg) | 324 | APC | Uncertain significance | -1 | RCV002046640; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102900 | 112102900 | A | C | 112102900 | - | | |
NM_000038.6(APC):c.236G>A (p.Ser79Asn) | 324 | APC | Uncertain significance | rs1554069689 | RCV000646481; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102901 | 112102901 | G | A | 5:g.112102901G>A | ClinGen:CA16021858 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.239G>C (p.Ser80Thr) | 324 | APC | Uncertain significance | rs876659390 | RCV000222538|RCV001294854; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102904 | 112102904 | G | C | 5:g.112102904G>C | ClinGen:CA10578286 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.239G>A (p.Ser80Asn) | 324 | APC | Uncertain significance | rs876659390 | RCV000807142; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102904 | 112102904 | G | A | 5:g.112102904G>A | - | | |
NM_000038.6(APC):c.244T>A (p.Phe82Ile) | 324 | APC | Uncertain significance | rs863225329 | RCV000201969|RCV001853249; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102909 | 112102909 | T | A | NC_000005.9:g.112102909T>A | ClinGen:CA279662 | CN169374 not specified; | |
NM_000038.6(APC):c.244T>C (p.Phe82Leu) | 324 | APC | Uncertain significance | rs863225329 | RCV001323108; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102909 | 112102909 | T | C | 112102909 | - | | |
NM_000038.6(APC):c.245T>C (p.Phe82Ser) | 324 | APC | Uncertain significance | rs1179254201 | RCV000569708|RCV000700319|RCV001293968; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873 | 5 | 112102910 | 112102910 | T | C | 5:g.112102910T>C | ClinGen:CA16021881 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.246C>T (p.Phe82=) | 324 | APC | Likely benign | -1 | RCV002078374; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102911 | 112102911 | C | T | 112102911 | - | | |
NM_000038.6(APC):c.248C>T (p.Pro83Leu) | 324 | APC | Uncertain significance | rs1163661746 | RCV001044495; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102913 | 112102913 | C | T | 5:g.112102913C>T | - | | |
NM_000038.6(APC):c.248C>G (p.Pro83Arg) | 324 | APC | Uncertain significance | -1 | RCV001989256; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102913 | 112102913 | C | G | 112102913 | - | | |
NM_000038.6(APC):c.249del (p.Gly84fs) | 324 | APC | Pathogenic | rs878853428 | RCV000232213|RCV000657492; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112102914 | 112102914 | CT | C | NC_000005.9:g.112102914del | ClinGen:CA10582274 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.249T>G (p.Pro83=) | 324 | APC | Likely benign | -1 | RCV002217592; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102914 | 112102914 | T | G | 112102914 | - | | |
NM_000038.6(APC):c.250G>C (p.Gly84Arg) | 324 | APC | Uncertain significance | -1 | RCV001974318; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102915 | 112102915 | G | C | 112102915 | - | | |
NM_000038.6(APC):c.251G>T (p.Gly84Val) | 324 | APC | Uncertain significance | rs143145868 | RCV000220182|RCV000823918; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102916 | 112102916 | G | T | NC_000005.9:g.112102916G>T | ClinGen:CA032367 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.252A>G (p.Gly84=) | 324 | APC | Likely benign | rs375051600 | RCV001015846|RCV002068921; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102917 | 112102917 | A | G | 5:g.112102917A>G | - | | |
NM_000038.6(APC):c.254del (p.Val85fs) | 324 | APC | Pathogenic | -1 | RCV001949573; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102919 | 112102919 | GT | G | 112102918 | - | | |
NM_000038.6(APC):c.259C>T (p.Leu87=) | 324 | APC | Benign/Likely benign | rs569640184 | RCV000122765|RCV000163523|RCV001079418; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102924 | 112102924 | C | T | NC_000005.9:g.112102924C>T | ClinGen:CA007647 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.260T>C (p.Leu87Pro) | 324 | APC | Uncertain significance | rs777456713 | RCV000558893; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102925 | 112102925 | T | C | 5:g.112102925T>C | ClinGen:CA16021913 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.260T>G (p.Leu87Arg) | 324 | APC | Uncertain significance | rs777456713 | RCV001045894; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102925 | 112102925 | T | G | 5:g.112102925T>G | - | | |
NM_000038.6(APC):c.262C>T (p.Arg88Trp) | 324 | APC | Uncertain significance | rs746592911 | RCV000484135|RCV000574492|RCV000646444|RCV000766533; | N | MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112102927 | 112102927 | C | T | 5:g.112102927C>T | ClinGen:CA032840 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.263G>A (p.Arg88Gln) | 324 | APC | Uncertain significance | rs587780592 | RCV000122766|RCV000413883|RCV000566722; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102928 | 112102928 | G | A | NC_000005.9:g.112102928G>A | ClinGen:CA007680 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.263G>T (p.Arg88Leu) | 324 | APC | Uncertain significance | rs587780592 | RCV001016167|RCV001057069; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102928 | 112102928 | G | T | 5:g.112102928G>T | - | | |
NM_000038.6(APC):c.264G>A (p.Arg88=) | 324 | APC | Likely benign | rs1554069706 | RCV000646591|RCV001016208; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102929 | 112102929 | G | A | 5:g.112102929G>A | ClinGen:CA445753164 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.266C>G (p.Ser89Ter) | 324 | APC | Pathogenic | rs876658846 | RCV000221332|RCV000767384; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102931 | 112102931 | C | G | 5:g.112102931C>G | ClinGen:CA10578287 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.266C>A (p.Ser89Ter) | 324 | APC | Pathogenic | rs876658846 | RCV000686347|RCV001016260; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102931 | 112102931 | C | A | 5:g.112102931C>A | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.280_281insTGGAGGAAATTGGACACCATCATTCTCAGTAAACTATCGCACGAACAAAAAACCAAACACCGCATCGTCTC | 324 | APC | Pathogenic | -1 | RCV001951264; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102931 | 112102932 | C | CAAAAATGTCCCTCCTGGAGGAAATTGGACACCATCATTCTCAGTAAACTATCGCACGAACAAAAAACCAAACACCGCATCGTCTCAGTCNNNNNNNNNNAAAAAAAAAA | 112102931 | - | | |
NM_000038.6(APC):c.268A>G (p.Lys90Glu) | 324 | APC | Uncertain significance | rs763184444 | RCV000201975|RCV000528829|RCV000580141|RCV001550070; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112102933 | 112102933 | A | G | NC_000005.9:g.112102933A>G | ClinGen:CA033035 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.272T>C (p.Met91Thr) | 324 | APC | Uncertain significance | -1 | RCV001888347; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102937 | 112102937 | T | C | 112102937 | - | | |
NM_000038.6(APC):c.273G>A (p.Met91Ile) | 324 | APC | Uncertain significance | rs745394881 | RCV000775117|RCV000819063; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102938 | 112102938 | G | A | NC_000005.9:g.112102938G>A | - | | |
NM_000038.6(APC):c.274T>G (p.Ser92Ala) | 324 | APC | Uncertain significance | rs1554069716 | RCV000646366|RCV001016496; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102939 | 112102939 | T | G | NC_000005.9:g.112102939T>G | ClinGen:CA16021939 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.275C>G (p.Ser92Cys) | 324 | APC | Uncertain significance | rs769708176 | RCV000685926|RCV001016520; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102940 | 112102940 | C | G | 5:g.112102940C>G | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.276C>T (p.Ser92=) | 324 | APC | Likely benign | rs369238363 | RCV000200217|RCV000569741|RCV001532995; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 5 | 112102941 | 112102941 | C | T | NC_000005.9:g.112102941C>T | ClinGen:CA033380 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.276C>G (p.Ser92=) | 324 | APC | Likely benign | -1 | RCV001453240; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102941 | 112102941 | C | G | 112102941 | - | | |
NM_000038.6(APC):c.277C>G (p.Leu93Val) | 324 | APC | Conflicting interpretations of pathogenicity | rs201567345 | RCV000233150|RCV000491761|RCV000657055|RCV001818550; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MedGen:CN169374 | 5 | 112102942 | 112102942 | C | G | NC_000005.9:g.112102942C>G | ClinGen:CA033407 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.277C>T (p.Leu93Phe) | 324 | APC | Uncertain significance | rs201567345 | RCV001016583|RCV001067244; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102942 | 112102942 | C | T | 5:g.112102942C>T | - | | |
NM_000038.6(APC):c.278T>A (p.Leu93His) | 324 | APC | Uncertain significance | rs876658977 | RCV000217948|RCV000700668; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102943 | 112102943 | T | A | 5:g.112102943T>A | ClinGen:CA10578288 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.279C>T (p.Leu93=) | 324 | APC | Likely benign | rs768492450 | RCV000565354|RCV001483090; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102944 | 112102944 | C | T | 5:g.112102944C>T | ClinGen:CA445753227 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.280C>G (p.Arg94Gly) | 324 | APC | Uncertain significance | rs550945533 | RCV000221637|RCV000700669; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102945 | 112102945 | C | G | 5:g.112102945C>G | ClinGen:CA10578289 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.280C>A (p.Arg94Ser) | 324 | APC | Uncertain significance | rs550945533 | RCV000409081|RCV001016652|RCV001775785; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112102945 | 112102945 | C | A | NC_000005.9:g.112102945C>A | ClinGen:CA16021946 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.280C>T (p.Arg94Cys) | 324 | APC | Uncertain significance | rs550945533 | RCV000563719|RCV001364425; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102945 | 112102945 | C | T | 5:g.112102945C>T | ClinGen:CA16021947 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.281G>A (p.Arg94His) | 324 | APC | Uncertain significance | rs774229223 | RCV000581085|RCV000646341; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102946 | 112102946 | G | A | 5:g.112102946G>A | ClinGen:CA033585 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.281_282del (p.Arg94fs) | 324 | APC | Likely pathogenic | rs1561464190 | RCV000755038; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102946 | 112102947 | CGT | C | NC_000005.9:g.112102946_112102947del | - | | |
NM_000038.6(APC):c.281G>C (p.Arg94Pro) | 324 | APC | Uncertain significance | -1 | RCV002019142; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102946 | 112102946 | G | C | 112102946 | - | | |
NM_000038.6(APC):c.282T>C (p.Arg94=) | 324 | APC | Likely benign | rs1485825595 | RCV000776852|RCV002061110; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102947 | 112102947 | T | C | NC_000005.9:g.112102947T>C | - | | |
NM_000038.6(APC):c.284C>T (p.Ser95Phe) | 324 | APC | Uncertain significance | rs146221748 | RCV000574779|RCV000797167|RCV001764656; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112102949 | 112102949 | C | T | NC_000005.9:g.112102949C>T | ClinGen:CA16021955 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.287A>G (p.Tyr96Cys) | 324 | APC | Uncertain significance | rs760770847 | RCV000580580|RCV001860022; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102952 | 112102952 | A | G | 5:g.112102952A>G | ClinGen:CA033841 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.287A>T (p.Tyr96Phe) | 324 | APC | Uncertain significance | rs760770847 | RCV000694205|RCV001016872; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102952 | 112102952 | A | T | 5:g.112102952A>T | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.288T>A (p.Tyr96Ter) | 324 | APC | Pathogenic | rs376213437 | RCV000159585|RCV000540671|RCV001016886; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102953 | 112102953 | T | A | NC_000005.9:g.112102953T>A | ClinGen:CA007872 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.288T>C (p.Tyr96=) | 324 | APC | Benign/Likely benign | rs376213437 | RCV000165334|RCV000205434|RCV000427257|RCV001704202; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MedGen:CN517202 | 5 | 112102953 | 112102953 | T | C | 5:g.112102953T>C | ClinGen:CA007882 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.288T>G (p.Tyr96Ter) | 324 | APC | Pathogenic | rs376213437 | RCV000202141|RCV000491545|RCV000555518; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102953 | 112102953 | T | G | NC_000005.9:g.112102953T>G | ClinGen:CA248534 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.295C>T (p.Arg99Trp) | 324 | APC | Conflicting interpretations of pathogenicity | rs139196838 | RCV000122769|RCV000129141|RCV000200967|RCV000210128|RCV000589216|RCV001353757|RCV001762272; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C1858438|MedGen:CN517202|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 | 5 | 112102960 | 112102960 | C | T | NC_000005.9:g.112102960C>T | ClinGen:CA007948,UniProtKB:P25054#VAR_009613 | C1858438 Colorectal cancer, susceptibility to; | |
NM_000038.6(APC):c.295C>A (p.Arg99=) | 324 | APC | Uncertain significance | rs139196838 | RCV000553655; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102960 | 112102960 | C | A | NC_000005.9:g.112102960C>A | ClinGen:CA445753285 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.296G>A (p.Arg99Gln) | 324 | APC | Uncertain significance | rs199842850 | RCV000197478|RCV000491566|RCV000585993; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112102961 | 112102961 | G | A | NC_000005.9:g.112102961G>A | ClinGen:CA007959 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.298del (p.Glu100fs) | 324 | APC | Pathogenic/Likely pathogenic | rs1064794224 | RCV000486524|RCV000646505; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102961 | 112102961 | CG | C | NC_000005.9:g.112102963del | ClinGen:CA16618067 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.297G>T (p.Arg99=) | 324 | APC | Likely benign | rs765804855 | RCV000935972|RCV001187112|RCV001500145; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102962 | 112102962 | G | T | 5:g.112102962G>T | - | | |
NM_000038.6(APC):c.298G>A (p.Glu100Lys) | 324 | APC | Uncertain significance | rs1561464319 | RCV000707121; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102963 | 112102963 | G | A | NC_000005.9:g.112102963G>A | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.301_303dup (p.Gly101dup) | 324 | APC | Uncertain significance | -1 | RCV001865028; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102964 | 112102965 | A | AAGG | 112102964 | - | | |
NM_000038.6(APC):c.300A>G (p.Glu100=) | 324 | APC | Likely benign | rs1060504888 | RCV000473825; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102965 | 112102965 | A | G | NC_000005.9:g.112102965A>G | ClinGen:CA16611637 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.301G>T (p.Gly101Ter) | 324 | APC | Pathogenic | rs863225335 | RCV000202070|RCV000570097|RCV001853250; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102966 | 112102966 | G | T | NC_000005.9:g.112102966G>T | ClinGen:CA279710 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.302G>A (p.Gly101Glu) | 324 | APC | Uncertain significance | rs954713888 | RCV000708949; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102967 | 112102967 | G | A | NC_000005.9:g.112102967G>A | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.302G>C (p.Gly101Ala) | 324 | APC | Uncertain significance | rs954713888 | RCV001018186|RCV001035615; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102967 | 112102967 | G | C | 5:g.112102967G>C | - | | |
NM_000038.6(APC):c.303A>G (p.Gly101=) | 324 | APC | Uncertain significance | rs1756452016 | RCV001203136; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102968 | 112102968 | A | G | 5:g.112102968A>G | - | | |
NM_000038.6(APC):c.304T>C (p.Ser102Pro) | 324 | APC | Uncertain significance | rs753302494 | RCV000561562|RCV001215583; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102969 | 112102969 | T | C | 5:g.112102969T>C | ClinGen:CA034347 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.305C>G (p.Ser102Cys) | 324 | APC | Uncertain significance | -1 | RCV001883382; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102970 | 112102970 | C | G | 112102970 | - | | |
NM_000038.6(APC):c.307G>C (p.Val103Leu) | 324 | APC | Uncertain significance | rs758995578 | RCV000469391; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102972 | 112102972 | G | C | NC_000005.9:g.112102972G>C | ClinGen:CA16021996 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.307G>T (p.Val103Leu) | 324 | APC | Uncertain significance | rs758995578 | RCV000571583|RCV001867873; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102972 | 112102972 | G | T | 5:g.112102972G>T | ClinGen:CA16021997 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.309A>G (p.Val103=) | 324 | APC | Likely benign | rs863224279 | RCV000195995|RCV001018605|RCV001500054; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102974 | 112102974 | A | G | 5:g.112102974A>G | ClinGen:CA336102 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.311C>G (p.Ser104Ter) | 324 | APC | Pathogenic/Likely pathogenic | rs74953290 | RCV000213087|RCV000506152|RCV000519665|RCV001254064|RCV001853550; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102976 | 112102976 | C | G | 5:g.112102976C>G | ClinGen:CA10578290 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.311C>T (p.Ser104Leu) | 324 | APC | Uncertain significance | rs74953290 | RCV000691711; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102976 | 112102976 | C | T | 5:g.112102976C>T | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.313A>G (p.Ser105Gly) | 324 | APC | Uncertain significance | rs776242276 | RCV000562645|RCV000646333; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102978 | 112102978 | A | G | 5:g.112102978A>G | ClinGen:CA16022006 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.314G>A (p.Ser105Asn) | 324 | APC | Uncertain significance | rs1580328726 | RCV000815337|RCV001796248; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112102979 | 112102979 | G | A | 5:g.112102979G>A | - | | |
NM_000038.6(APC):c.316C>T (p.Arg106Cys) | 324 | APC | Uncertain significance | rs1554069763 | RCV000555181|RCV001018945; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102981 | 112102981 | C | T | NC_000005.9:g.112102981C>T | ClinGen:CA16022015 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.317G>A (p.Arg106His) | 324 | APC | Uncertain significance | rs201764637 | RCV000034409|RCV000410470|RCV000455267|RCV000565565|RCV000659270; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733 | 5 | 112102982 | 112102982 | G | A | 5:g.112102982G>A | ClinGen:CA008128 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.317G>T (p.Arg106Leu) | 324 | APC | Uncertain significance | rs201764637 | RCV001019017|RCV001035384; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102982 | 112102982 | G | T | 5:g.112102982G>T | - | | |
NM_000038.6(APC):c.319T>G (p.Ser107Ala) | 324 | APC | Uncertain significance | rs1485866385 | RCV000821613|RCV001019146; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102984 | 112102984 | T | G | NC_000005.9:g.112102984T>G | - | | |
NM_000038.6(APC):c.320C>G (p.Ser107Cys) | 324 | APC | Uncertain significance | rs774416950 | RCV000777304|RCV001873166; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102985 | 112102985 | C | G | NC_000005.9:g.112102985C>G | - | | |
NM_000038.6(APC):c.321T>C (p.Ser107=) | 324 | APC | Likely benign | -1 | RCV001484474; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102986 | 112102986 | T | C | 112102986 | - | | |
NM_000038.6(APC):c.322G>T (p.Gly108Ter) | 324 | APC | Pathogenic | -1 | RCV001930377; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102987 | 112102987 | G | T | 112102987 | - | | |
NM_000038.6(APC):c.323G>A (p.Gly108Glu) | 324 | APC | Conflicting interpretations of pathogenicity | rs1114167456 | RCV000491472|RCV000775971|RCV001051832; | N | MedGen:C1858438|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102988 | 112102988 | G | A | NC_000005.9:g.112102988G>A | ClinGen:CA16022027 | C1858438 Colorectal cancer, susceptibility to; | |
NM_000038.6(APC):c.326A>G (p.Glu109Gly) | 324 | APC | Uncertain significance | rs1756458773 | RCV001239077; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102991 | 112102991 | A | G | 5:g.112102991A>G | - | | |
NM_000038.6(APC):c.328T>C (p.Cys110Arg) | 324 | APC | Uncertain significance | rs751956779 | RCV000692270; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102993 | 112102993 | T | C | NC_000005.9:g.112102993T>C | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.330C>T (p.Cys110=) | 324 | APC | Likely benign | rs1060504887 | RCV000463523|RCV000568079; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102995 | 112102995 | C | T | NC_000005.9:g.112102995C>T | ClinGen:CA16611601 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.331A>G (p.Ser111Gly) | 324 | APC | Uncertain significance | rs1580328938 | RCV000987549|RCV001184638; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102996 | 112102996 | A | G | 5:g.112102996A>G | - | | |
NM_000038.6(APC):c.332G>A (p.Ser111Asn) | 324 | APC | Uncertain significance | rs786202322 | RCV000165072|RCV000233865|RCV001582652; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112102997 | 112102997 | G | A | 5:g.112102997G>A | ClinGen:CA008281 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.334C>A (p.Pro112Thr) | 324 | APC | Uncertain significance | rs1392982680 | RCV000813105|RCV001805888; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112102999 | 112102999 | C | A | 5:g.112102999C>A | - | | |
NM_000038.6(APC):c.334C>T (p.Pro112Ser) | 324 | APC | Uncertain significance | rs1392982680 | RCV001338998; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102999 | 112102999 | C | T | 112102999 | - | | |
NM_000038.6(APC):c.335C>G (p.Pro112Arg) | 324 | APC | Uncertain significance | rs1060503357 | RCV000461562|RCV001020080|RCV001770356; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112103000 | 112103000 | C | G | NC_000005.9:g.112103000C>G | ClinGen:CA16022055 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.338T>C (p.Val113Ala) | 324 | APC | Uncertain significance | rs863224542 | RCV000200174; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103003 | 112103003 | T | C | NC_000005.9:g.112103003T>C | ClinGen:CA339132 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.340C>A (p.Pro114Thr) | 324 | APC | Uncertain significance | rs1580329044 | RCV001020227|RCV001860976; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103005 | 112103005 | C | A | 5:g.112103005C>A | - | | |
NM_000038.6(APC):c.340C>T (p.Pro114Ser) | 324 | APC | Uncertain significance | -1 | RCV001916640; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103005 | 112103005 | C | T | 112103005 | - | | |
NM_000038.6(APC):c.341C>G (p.Pro114Arg) | 324 | APC | Uncertain significance | rs200117298 | RCV001056165|RCV001796358; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112103006 | 112103006 | C | G | 5:g.112103006C>G | - | | |
NM_000038.6(APC):c.341C>T (p.Pro114Leu) | 324 | APC | Uncertain significance | rs200117298 | RCV001182823|RCV001344828; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103006 | 112103006 | C | T | 5:g.112103006C>T | - | | |
NM_000038.6(APC):c.343A>G (p.Met115Val) | 324 | APC | Uncertain significance | rs1060503276 | RCV000471223|RCV000566474|RCV000985295; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112103008 | 112103008 | A | G | 5:g.112103008A>G | ClinGen:CA16022069 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.344T>A (p.Met115Lys) | 324 | APC | Uncertain significance | rs1756462909 | RCV001341029; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103009 | 112103009 | T | A | 112103009 | - | | |
NM_000038.6(APC):c.346G>C (p.Gly116Arg) | 324 | APC | Uncertain significance | rs142637152 | RCV001039243; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103011 | 112103011 | G | C | 5:g.112103011G>C | - | | |
NM_000038.6(APC):c.347G>A (p.Gly116Asp) | 324 | APC | Uncertain significance | rs369999291 | RCV000581664|RCV000646298; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103012 | 112103012 | G | A | NC_000005.9:g.112103012G>A | ClinGen:CA16022080 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.350C>A (p.Ser117Ter) | 324 | APC | Pathogenic | rs1064793535 | RCV000482015|RCV000561431|RCV000646504|RCV001824795; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733 | 5 | 112103015 | 112103015 | C | A | 5:g.112103015C>A | ClinGen:CA16022086 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.351A>C (p.Ser117=) | 324 | APC | Likely benign | rs1294902871 | RCV000982897|RCV001431511; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103016 | 112103016 | A | C | 5:g.112103016A>C | - | | |
NM_000038.6(APC):c.353T>G (p.Phe118Cys) | 324 | APC | Uncertain significance | rs1756464913 | RCV001323140; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103018 | 112103018 | T | G | 112103018 | - | | |
NM_000038.6(APC):c.356C>T (p.Pro119Leu) | 324 | APC | Uncertain significance | -1 | RCV001979394; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103021 | 112103021 | C | T | 112103021 | - | | |
NM_000038.6(APC):c.357A>G (p.Pro119=) | 324 | APC | Likely benign | rs1306334779 | RCV001020648|RCV001394163; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103022 | 112103022 | A | G | 5:g.112103022A>G | - | | |
NM_000038.6(APC):c.358A>G (p.Arg120Gly) | 324 | APC | Uncertain significance | rs876659470 | RCV000561323|RCV000679056|RCV001192979|RCV001304515; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103023 | 112103023 | A | G | 5:g.112103023A>G | ClinGen:CA16022103 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.362G>T (p.Arg121Ile) | 324 | APC | Uncertain significance | rs193049694 | RCV000205797|RCV000570345; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112103027 | 112103027 | G | T | NC_000005.9:g.112103027G>T | ClinGen:CA036020 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.362G>A (p.Arg121Lys) | 324 | APC | Uncertain significance | rs193049694 | RCV001065793|RCV001186320; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112103027 | 112103027 | G | A | 5:g.112103027G>A | - | | |
NM_000038.6(APC):c.362G>C (p.Arg121Thr) | 324 | APC | Uncertain significance | -1 | RCV001366825; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103027 | 112103027 | G | C | 112103027 | - | | |
NM_000038.6(APC):c.366del (p.Phe123fs) | 324 | APC | Pathogenic | rs1580329260 | RCV000815470; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103029 | 112103029 | AG | A | 5:g.112103029_112103029del | - | | |
NM_000038.6(APC):c.364G>A (p.Gly122Arg) | 324 | APC | Uncertain significance | -1 | RCV001887567; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103029 | 112103029 | G | A | 112103029 | - | | |
NM_000038.6(APC):c.365G>T (p.Gly122Val) | 324 | APC | Uncertain significance | rs755660899 | RCV000575451|RCV000802382|RCV001815415; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112103030 | 112103030 | G | T | NC_000005.9:g.112103030G>T | ClinGen:CA036174 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.365G>C (p.Gly122Ala) | 324 | APC | Uncertain significance | rs755660899 | RCV000803977|RCV001020823; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112103030 | 112103030 | G | C | 5:g.112103030G>C | - | | |
NM_000038.6(APC):c.367T>A (p.Phe123Ile) | 324 | APC | Uncertain significance | rs1756467769 | RCV001226859; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103032 | 112103032 | T | A | 5:g.112103032T>A | - | | |
NM_000038.6(APC):c.369_422+44delinsG | 324 | APC | Likely pathogenic | -1 | RCV002005193; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103034 | 112103131 | TGTAAATGGAAGCAGAGAAAGTACTGGATATTTAGAAGAACTTGAGAAAGAGAGGTAACTTTTCTTCATATAGTAAACATTGCCTTGTGTACTCCAGT | G | 112103034 | - | | |
NM_000038.6(APC):c.370G>A (p.Val124Ile) | 324 | APC | Uncertain significance | rs779945112 | RCV000464404; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103035 | 112103035 | G | A | NC_000005.9:g.112103035G>A | ClinGen:CA16022128 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.370G>C (p.Val124Leu) | 324 | APC | Uncertain significance | -1 | RCV002028242; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103035 | 112103035 | G | C | 112103035 | - | | |
NM_000038.6(APC):c.372A>G (p.Val124=) | 324 | APC | Likely benign | rs749179034 | RCV000166670|RCV000555868|RCV000608108|RCV001800502; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MedGen:CN517202 | 5 | 112103037 | 112103037 | A | G | 5:g.112103037A>G | ClinGen:CA008642 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.374A>G (p.Asn125Ser) | 324 | APC | Uncertain significance | -1 | RCV001366438; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103039 | 112103039 | A | G | 112103039 | - | | |
NM_000038.6(APC):c.375T>C (p.Asn125=) | 324 | APC | Likely benign | rs768615558 | RCV001021070|RCV001420042; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103040 | 112103040 | T | C | 5:g.112103040T>C | - | | |
NM_000038.6(APC):c.381_406del (p.Ser127fs) | 324 | APC | Pathogenic | -1 | RCV001913691; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103042 | 112103067 | GGAAGCAGAGAAAGTACTGGATATTTA | G | 112103041 | - | | |
NM_000038.6(APC):c.378A>G (p.Gly126=) | 324 | APC | Likely benign | -1 | RCV002158496; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103043 | 112103043 | A | G | 112103043 | - | | |
NM_000038.6(APC):c.379A>G (p.Ser127Gly) | 324 | APC | Uncertain significance | rs200089324 | RCV000034386|RCV000167102|RCV000410052; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103044 | 112103044 | A | G | 5:g.112103044A>G | ClinGen:CA008675 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.380G>A (p.Ser127Asn) | 324 | APC | Uncertain significance | rs1414642619 | RCV000688983|RCV001021205; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112103045 | 112103045 | G | A | 5:g.112103045G>A | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.383G>C (p.Arg128Thr) | 324 | APC | Uncertain significance | rs1756470431 | RCV001313625; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103048 | 112103048 | G | C | 112103048 | - | | |
NM_000038.6(APC):c.384A>G (p.Arg128=) | 324 | APC | Conflicting interpretations of pathogenicity | rs876659284 | RCV000213500|RCV000484255|RCV001454760; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103049 | 112103049 | A | G | 5:g.112103049A>G | ClinGen:CA10578292 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.385G>C (p.Glu129Gln) | 324 | APC | Conflicting interpretations of pathogenicity | rs376628500 | RCV000120050|RCV000196705|RCV000216893|RCV000589545; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112103050 | 112103050 | G | C | 5:g.112103050G>C | ClinGen:CA008713 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.388del (p.Ser130fs) | 324 | APC | Likely pathogenic | rs1554069828 | RCV000662861; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103051 | 112103051 | GA | G | 5:g.112103051_112103051del | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.386A>G (p.Glu129Gly) | 324 | APC | Uncertain significance | rs759662717 | RCV000817746|RCV001191301; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112103051 | 112103051 | A | G | 5:g.112103051A>G | - | | |
NM_000038.6(APC):c.386A>T (p.Glu129Val) | 324 | APC | Uncertain significance | -1 | RCV001969388; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103051 | 112103051 | A | T | 112103051 | - | | |
NM_000038.6(APC):c.387A>G (p.Glu129=) | 324 | APC | Likely benign | rs1554069832 | RCV000573413|RCV000924570|RCV001453390; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103052 | 112103052 | A | G | 5:g.112103052A>G | ClinGen:CA445753410 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.387A>C (p.Glu129Asp) | 324 | APC | Uncertain significance | -1 | RCV001937657; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103052 | 112103052 | A | C | 112103052 | - | | |
NM_000038.6(APC):c.388A>G (p.Ser130Gly) | 324 | APC | Conflicting interpretations of pathogenicity | rs150973053 | RCV000034387|RCV000122775|RCV000129715|RCV000211891|RCV000417265|RCV001155264|RCV001762081; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MedGen:CN239210|MONDO:MONDO:0005575,MedGen:C0 | 5 | 112103053 | 112103053 | A | G | 5:g.112103053A>G | ClinGen:CA008731 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.392C>G (p.Thr131Ser) | 324 | APC | Uncertain significance | rs1387998721 | RCV000571547|RCV000646355; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103057 | 112103057 | C | G | 5:g.112103057C>G | ClinGen:CA16022176 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.392C>T (p.Thr131Ile) | 324 | APC | Uncertain significance | rs1387998721 | RCV001301535; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103057 | 112103057 | C | T | 112103057 | - | | |
NM_000038.6(APC):c.393T>C (p.Thr131=) | 324 | APC | Likely benign | rs775742850 | RCV000163863|RCV000548080; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103058 | 112103058 | T | C | 5:g.112103058T>C | ClinGen:CA008809 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.394G>A (p.Gly132Arg) | 324 | APC | Uncertain significance | rs1580329638 | RCV001021500|RCV001050218; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103059 | 112103059 | G | A | 5:g.112103059G>A | - | | |
NM_000038.6(APC):c.396A>C (p.Gly132=) | 324 | APC | Likely benign | rs1060504884 | RCV000475145|RCV001402755; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103061 | 112103061 | A | C | NC_000005.9:g.112103061A>C | ClinGen:CA16611554 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.397T>G (p.Tyr133Asp) | 324 | APC | Uncertain significance | rs763487503 | RCV000415652; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103062 | 112103062 | T | G | 5:g.112103062T>G | ClinGen:CA037250 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.398A>G (p.Tyr133Cys) | 324 | APC | Uncertain significance | rs1561465075 | RCV000774003|RCV001856075; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103063 | 112103063 | A | G | NC_000005.9:g.112103063A>G | - | | |
NM_000038.6(APC):c.403GAA[1] (p.Glu136del) | 324 | APC | Uncertain significance | -1 | RCV001976118; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103067 | 112103069 | TAGA | T | 112103066 | - | | |
NM_000038.6(APC):c.403_404insTT (p.Glu135fs) | 324 | APC | Pathogenic | rs1756475997 | RCV001244359; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103068 | 112103069 | G | GTT | 5:g.112103068_112103069insTT | - | | |
NM_000038.6(APC):c.405A>G (p.Glu135=) | 324 | APC | Likely benign | rs1554069842 | RCV000524997; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103070 | 112103070 | A | G | NC_000005.9:g.112103070A>G | ClinGen:CA445753429 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.410T>G (p.Leu137Arg) | 324 | APC | Uncertain significance | rs1756476556 | RCV001234899; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103075 | 112103075 | T | G | 5:g.112103075T>G | - | | |
NM_000038.6(APC):c.413A>C (p.Glu138Ala) | 324 | APC | Uncertain significance | -1 | RCV001933097; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103078 | 112103078 | A | C | 112103078 | - | | |
NM_000038.6(APC):c.414G>A (p.Glu138=) | 324 | APC | Likely benign | rs1554069845 | RCV000563602|RCV000933345|RCV001466729; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103079 | 112103079 | G | A | 5:g.112103079G>A | ClinGen:CA445753437 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.421_422del (p.Arg141fs) | 324 | APC | Pathogenic | rs1554069850 | RCV000534073|RCV000657261|RCV001022064; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112103082 | 112103083 | AAG | A | NC_000005.9:g.112103082AG[2] | ClinGen:CA645546024 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.417A>G (p.Lys139=) | 324 | APC | Likely benign | rs1554069848 | RCV000561844|RCV000875392|RCV001392168|RCV001420741; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374 | 5 | 112103082 | 112103082 | A | G | 5:g.112103082A>G | ClinGen:CA445753442 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.419A>C (p.Glu140Ala) | 324 | APC | Uncertain significance | -1 | RCV001367542; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103084 | 112103084 | A | C | 112103084 | - | | |
NM_000038.6(APC):c.420G>C (p.Glu140Asp) | 324 | APC | Uncertain significance | rs202161017 | RCV000034414|RCV000409727|RCV000579781; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112103085 | 112103085 | G | C | 5:g.112103085G>C | ClinGen:CA008951 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.421A>C (p.Arg141=) | 324 | APC | Uncertain significance | rs1561465195 | RCV000798848|RCV001177511; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112103086 | 112103086 | A | C | 5:g.112103086A>C | - | | |
NM_000038.6(APC):c.421A>G (p.Arg141Gly) | 324 | APC | Uncertain significance | rs1561465195 | RCV001068104; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103086 | 112103086 | A | G | 5:g.112103086A>G | - | | |
NM_000038.6(APC):c.422G>C (p.Arg141Thr) | 324 | APC | Uncertain significance | -1 | RCV001365090; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103087 | 112103087 | G | C | 112103087 | - | | |
NM_000038.6(APC):c.422+1G>C | 324 | APC | Likely pathogenic | -1 | RCV001378009; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103088 | 112103088 | G | C | 112103088 | - | | |
NM_000038.6(APC):c.422+2T>C | 324 | APC | Likely pathogenic | rs879254169 | RCV000235994|RCV000411017; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103089 | 112103089 | T | C | NC_000005.9:g.112103089T>C | ClinGen:CA10584235 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.422+2T>G | 324 | APC | Likely pathogenic | rs879254169 | RCV000494112|RCV000812496; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103089 | 112103089 | T | G | NC_000005.9:g.112103089T>G | ClinGen:CA360617477 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.422+3A>G | 324 | APC | Uncertain significance | rs1561465237 | RCV000773149|RCV001348775; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103090 | 112103090 | A | G | NC_000005.9:g.112103090A>G | - | | |
NM_000038.6(APC):c.422+6T>C | 324 | APC | Uncertain significance | rs864622442 | RCV000205347; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103093 | 112103093 | T | C | NC_000005.9:g.112103093T>C | ClinGen:CA349506 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.422+6T>G | 324 | APC | Uncertain significance | rs864622442 | RCV001223905; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103093 | 112103093 | T | G | 5:g.112103093T>G | - | | |
NM_000038.6(APC):c.422+10C>T | 324 | APC | Likely benign | rs899376835 | RCV000583391|RCV000865896; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103097 | 112103097 | C | T | 5:g.112103097C>T | ClinGen:CA124975734 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.422+10C>G | 324 | APC | Likely benign | -1 | RCV002150930; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103097 | 112103097 | C | G | 112103097 | - | | |
NM_000038.6(APC):c.422+11T>C | 324 | APC | Likely benign | -1 | RCV002169146; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103098 | 112103098 | T | C | 112103098 | - | | |
NM_000038.6(APC):c.422+14A>G | 324 | APC | Likely benign | -1 | RCV002125367; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103101 | 112103101 | A | G | 112103101 | - | | |
NM_000038.6(APC):c.422+18A>G | 324 | APC | Likely benign | -1 | RCV002129338; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112103105 | 112103105 | A | G | 112103105 | - | | |
NM_000038.6(APC):c.422+19G>C | 324 | APC | Likely benign | rs767046355 | RCV000411339|RCV000442743|RCV000775119; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112103106 | 112103106 | G | C | NC_000005.9:g.112103106G>C | ClinGen:CA038094 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.423-28G>T | 324 | APC | Likely benign | rs570467572 | RCV000410109; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111298 | 112111298 | G | T | NC_000005.9:g.112111298G>T | ClinGen:CA16042084 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.423-17T>A | 324 | APC | Benign/Likely benign | rs534684461 | RCV000202107|RCV000582266|RCV000987551|RCV001640304; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112111309 | 112111309 | T | A | 5:g.112111309T>A | ClinGen:CA210397 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.423-4dup | 324 | APC | Benign | rs730881230 | RCV000987550|RCV001579624; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374 | 5 | 112111309 | 112111310 | T | TA | 5:g.112111309_112111310insA | - | | |
NM_000038.6(APC):c.423-4del | 324 | APC | Benign/Likely benign | rs730881230 | RCV000159526|RCV000202236|RCV001353891|RCV001520354|RCV001762340; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500 | 5 | 112111310 | 112111310 | TA | T | NC_000005.9:g.112111322del | ClinGen:CA009327 | C0027672 Hereditary cancer-predisposing syndrome; | |
NC_000005.10:g.(?_112775617)_(112780913_?)del | 324 | APC | Pathogenic | -1 | RCV001033570|RCV001862458; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111314 | 112116610 | na | na | -1 | - | | |
NC_000005.9:g.(?_112111314)_(112111444_?)del | 324 | APC | Pathogenic | -1 | RCV001380904; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111314 | 112111444 | na | na | -1 | - | | |
NC_000005.9:g.(?_112111314)_(112179823_?)dup | 324 | APC | Uncertain significance | -1 | RCV002038955; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111314 | 112179823 | na | na | -1 | - | | |
NC_000005.9:g.(?_112111314)_(112137090_?)del | 324 | APC | Pathogenic | -1 | RCV001972495; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111314 | 112137090 | na | na | -1 | - | | |
NC_000005.10:g.(?_112775619)_(112801393_?)del | 324 | APC | Pathogenic | -1 | RCV000796140; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111316 | 112137090 | na | na | | - | | |
NM_000038.6(APC):c.423-9A>G | 324 | APC | Pathogenic | rs1554071494 | RCV000551256; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111317 | 112111317 | A | G | NC_000005.9:g.112111317A>G | ClinGen:CA658657473 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.423-9A>T | 324 | APC | Likely benign | -1 | RCV001481567; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111317 | 112111317 | A | T | 112111317 | - | | |
NM_000038.6(APC):c.423-8A>T | 324 | APC | Likely benign | -1 | RCV001444720; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111318 | 112111318 | A | T | 112111318 | - | | |
NC_000005.10:g.(?_112775623)_(112844132_?)del | 324 | APC | Pathogenic | -1 | RCV000527737|RCV001853710; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111320 | 112179829 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.423-6A>G | 324 | APC | Uncertain significance | -1 | RCV001366684; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111320 | 112111320 | A | G | 112111320 | - | | |
NM_000038.6(APC):c.423-3_423-2del | 324 | APC | Conflicting interpretations of pathogenicity | rs863225354 | RCV000201990|RCV000467938|RCV000775120|RCV001705159; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112111322 | 112111323 | AAT | A | 5:g.112111322_112111323del | ClinGen:CA038361 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.423-4_423-2del | 324 | APC | Uncertain significance | rs876657408 | RCV000185617|RCV000471040; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111322 | 112111324 | AAAT | A | NC_000005.9:g.112111322_112111324del | ClinGen:CA10575731,OMIM:611731.0052 | | |
NM_000038.6(APC):c.423-4A>G | 324 | APC | Uncertain significance | rs1561477594 | RCV000702026|RCV001022105; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112111322 | 112111322 | A | G | NC_000005.9:g.112111322A>G | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.423-4A>T | 324 | APC | Likely benign | -1 | RCV001489493; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111322 | 112111322 | A | T | 112111322 | - | | |
NM_000038.6(APC):c.423-3T>A | 324 | APC | Conflicting interpretations of pathogenicity | rs587782293 | RCV000131175|RCV000202091|RCV000686573|RCV001353717; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112111323 | 112111323 | T | A | 5:g.112111323T>A | ClinGen:CA009307 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.423-3T>C | 324 | APC | Uncertain significance | rs587782293 | RCV000568909|RCV001853754; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111323 | 112111323 | T | C | NC_000005.9:g.112111323T>C | ClinGen:CA658657474 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.423-2A>T | 324 | APC | Pathogenic | rs879254087 | RCV000235486|RCV001857812; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111324 | 112111324 | A | T | 5:g.112111324A>T | ClinGen:CA10584236 | CN517202 not provided; | |
NM_000038.6(APC):c.423-2A>C | 324 | APC | Pathogenic | -1 | RCV001384461; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111324 | 112111324 | A | C | 112111324 | - | | |
NM_000038.6(APC):c.423-2A>G | 324 | APC | Pathogenic | -1 | RCV001949653; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111324 | 112111324 | A | G | 112111324 | - | | |
NM_000038.6(APC):c.423-1G>A | 324 | APC | Pathogenic | rs397514031 | RCV000000878|RCV000491238|RCV000502154|RCV001762028|RCV001851518; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111325 | 112111325 | G | A | 5:g.112111325G>A | ClinGen:CA009189,OMIM:611731.0043 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.423-1G>C | 324 | APC | Pathogenic | rs397514031 | RCV000202202|RCV001065895; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111325 | 112111325 | G | C | NC_000005.9:g.112111325G>C | ClinGen:CA009194 | CN517202 not provided; | |
NM_000038.6(APC):c.423G>T (p.Arg141Ser) | 324 | APC | Pathogenic | rs863224458 | RCV000199388|RCV000501209|RCV001270008|RCV001853212; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0002032,MedGen:C0699790|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111326 | 112111326 | G | T | 5:g.112111326G>T | ClinGen:CA338613 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.424_531+69dup | 324 | APC | Likely pathogenic | rs1561477658 | RCV000691575; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111326 | 112111327 | G | GTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTAACTGAAAATG | 5:g.112111326_112111327insTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTA | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.423G>A (p.Arg141=) | 324 | APC | Uncertain significance | -1 | RCV001967976; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111326 | 112111326 | G | A | 112111326 | - | | |
NM_000038.6(APC):c.424T>A (p.Ser142Thr) | 324 | APC | Uncertain significance | rs1311934641 | RCV000708950; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111327 | 112111327 | T | A | 5:g.112111327T>A | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.426_427del (p.Leu143fs) | 324 | APC | Pathogenic | rs587782557 | RCV000131775|RCV000144571|RCV000202026|RCV000504124|RCV000506761|RCV001353612; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MedGen:CN169374|MONDO:MONDO:0002032,MedGen:C0699790 | 5 | 112111329 | 112111330 | CAT | C | 5:g.112111329_112111330del | ClinGen:CA009418 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.432T>A (p.Leu144=) | 324 | APC | Likely benign | -1 | RCV002193838; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111335 | 112111335 | T | A | 112111335 | - | | |
NM_000038.6(APC):c.436G>A (p.Ala146Thr) | 324 | APC | Uncertain significance | rs763181290 | RCV001022370|RCV001244840; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111339 | 112111339 | G | A | 5:g.112111339G>A | - | | |
NM_000038.6(APC):c.436G>T (p.Ala146Ser) | 324 | APC | Uncertain significance | rs763181290 | RCV001327305; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111339 | 112111339 | G | T | 112111339 | - | | |
NM_000038.6(APC):c.436G>C (p.Ala146Pro) | 324 | APC | Uncertain significance | -1 | RCV001970469; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111339 | 112111339 | G | C | 112111339 | - | | |
NM_000038.6(APC):c.437C>T (p.Ala146Val) | 324 | APC | Uncertain significance | rs1305794169 | RCV000566219|RCV000780845|RCV000700936; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111340 | 112111340 | C | T | 5:g.112111340C>T | ClinGen:CA16022277 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.437C>G (p.Ala146Gly) | 324 | APC | Uncertain significance | rs1305794169 | RCV001241978; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111340 | 112111340 | C | G | 5:g.112111340C>G | - | | |
NM_000038.6(APC):c.438T>C (p.Ala146=) | 324 | APC | Likely benign | -1 | RCV001433025; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111341 | 112111341 | T | C | 112111341 | - | | |
NM_000038.6(APC):c.440dup (p.Asp147fs) | 324 | APC | Pathogenic | -1 | RCV001996956; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111342 | 112111343 | G | GA | 112111342 | - | | |
NM_000038.6(APC):c.440A>G (p.Asp147Gly) | 324 | APC | Uncertain significance | rs769039873 | RCV000235657|RCV001022439|RCV001338815; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111343 | 112111343 | A | G | NC_000005.9:g.112111343A>G | ClinGen:CA038999 | CN169374 not specified; | |
NM_000038.6(APC):c.440A>C (p.Asp147Ala) | 324 | APC | Uncertain significance | -1 | RCV001966451; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111343 | 112111343 | A | C | 112111343 | - | | |
NM_000038.6(APC):c.442C>A (p.Leu148Ile) | 324 | APC | Uncertain significance | rs774964663 | RCV000568928|RCV001055952; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111345 | 112111345 | C | A | NC_000005.9:g.112111345C>A | ClinGen:CA039051 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.442del (p.Asp149fs) | 324 | APC | Pathogenic | -1 | RCV001354880; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111345 | 112111345 | TC | T | 112111344 | - | | |
NM_000038.6(APC):c.443T>A (p.Leu148His) | 324 | APC | Uncertain significance | rs762062860 | RCV000220750|RCV000689183; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111346 | 112111346 | T | A | 5:g.112111346T>A | ClinGen:CA039077 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.443T>G (p.Leu148Arg) | 324 | APC | Uncertain significance | rs762062860 | RCV000819978; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111346 | 112111346 | T | G | 5:g.112111346T>G | - | | |
NM_000038.6(APC):c.445G>C (p.Asp149His) | 324 | APC | Uncertain significance | rs767875993 | RCV000563918|RCV000794048; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111348 | 112111348 | G | C | NC_000005.9:g.112111348G>C | ClinGen:CA039127 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.445G>A (p.Asp149Asn) | 324 | APC | Uncertain significance | rs767875993 | RCV001022514|RCV001352466; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111348 | 112111348 | G | A | 5:g.112111348G>A | - | | |
NM_000038.6(APC):c.447C>A (p.Asp149Glu) | 324 | APC | Uncertain significance | rs750821213 | RCV000461374|RCV000561667; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112111350 | 112111350 | C | A | NC_000005.9:g.112111350C>A | ClinGen:CA039179 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.447C>G (p.Asp149Glu) | 324 | APC | Uncertain significance | rs750821213 | RCV001206047; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111350 | 112111350 | C | G | 5:g.112111350C>G | - | | |
NM_000038.6(APC):c.450_453del (p.Glu151fs) | 324 | APC | Pathogenic | rs863225355 | RCV000202178|RCV001384462; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111351 | 112111354 | CAAAG | C | NC_000005.9:g.112111353_112111356del | ClinGen:CA279775 | CN517202 not provided; | |
NM_000038.6(APC):c.448A>T (p.Lys150Ter) | 324 | APC | Pathogenic | rs878853444 | RCV000231021|RCV000657600|RCV001854815; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111351 | 112111351 | A | T | NC_000005.9:g.112111351A>T | ClinGen:CA10582275 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.449A>G (p.Lys150Arg) | 324 | APC | Uncertain significance | rs371085910 | RCV000130643|RCV000148370|RCV000206082|RCV000211892|RCV000656744; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0005484,MedGen:C1302401|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MedGen:CN517202 | 5 | 112111352 | 112111352 | A | G | 5:g.112111352A>G | ClinGen:CA009591 | C1302401 Colorectal adenoma; | |
NM_000038.6(APC):c.450A>G (p.Lys150=) | 324 | APC | Conflicting interpretations of pathogenicity | rs116020626 | RCV000159527|RCV000199795|RCV000211893|RCV000759433|RCV001156933|RCV001353868; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MedGen:CN517202|MedGen:CN239210|MONDO:MONDO:0002032,MedGen:C0699790 | 5 | 112111353 | 112111353 | A | G | NC_000005.9:g.112111353A>G | ClinGen:CA009598 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.453del (p.Glu152fs) | 324 | APC | Pathogenic | rs863224820 | RCV000202272|RCV000200847|RCV000491770|RCV001356072; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0002032,MedGen:C0699790 | 5 | 112111355 | 112111355 | GA | G | NC_000005.9:g.112111356del | ClinGen:CA279814 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.454G>C (p.Glu152Gln) | 324 | APC | Uncertain significance | -1 | RCV002045348; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111357 | 112111357 | G | C | 112111357 | - | | |
NM_000038.6(APC):c.458del (p.Lys153fs) | 324 | APC | Pathogenic | rs1554071521 | RCV000503185|RCV001385183; | N | MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111358 | 112111358 | GA | G | NC_000005.9:g.112111361del | ClinGen:CA645372773 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.457A>G (p.Lys153Glu) | 324 | APC | Uncertain significance | rs1561477861 | RCV000704385; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111360 | 112111360 | A | G | 5:g.112111360A>G | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.457A>T (p.Lys153Ter) | 324 | APC | Pathogenic | -1 | RCV001951273; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111360 | 112111360 | A | T | 112111360 | - | | |
NM_000038.6(APC):c.458A>G (p.Lys153Arg) | 324 | APC | Uncertain significance | rs754553913 | RCV000561950|RCV000700039; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111361 | 112111361 | A | G | NC_000005.9:g.112111361A>G | ClinGen:CA039423 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.460dup (p.Glu154fs) | 324 | APC | Pathogenic | -1 | RCV001726722; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111361 | 112111362 | A | AG | 112111361 | - | | |
NM_000038.6(APC):c.459G>A (p.Lys153=) | 324 | APC | Likely benign | rs864622482 | RCV000205338|RCV000570963|RCV000614961; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 5 | 112111362 | 112111362 | G | A | NC_000005.9:g.112111362G>A | ClinGen:CA349496 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.460G>A (p.Glu154Lys) | 324 | APC | Uncertain significance | rs786202822 | RCV000165838|RCV000479967|RCV000708951; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111363 | 112111363 | G | A | 5:g.112111363G>A | ClinGen:CA009636 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.465del (p.Asp156fs) | 324 | APC | Pathogenic | rs1554071529 | RCV000562556|RCV001055575; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111364 | 112111364 | GA | G | 5:g.112111364_112111364del | ClinGen:CA658657475 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.461A>G (p.Glu154Gly) | 324 | APC | Uncertain significance | rs1561477912 | RCV000697285; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111364 | 112111364 | A | G | 5:g.112111364A>G | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.465A>G (p.Lys155=) | 324 | APC | Likely benign | rs778691867 | RCV000461064|RCV000776475|RCV001721463; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112111368 | 112111368 | A | G | 5:g.112111368A>G | ClinGen:CA039516 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.466G>C (p.Asp156His) | 324 | APC | Uncertain significance | rs1554071538 | RCV000584639|RCV001853892; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111369 | 112111369 | G | C | 5:g.112111369G>C | ClinGen:CA16022340 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.466G>T (p.Asp156Tyr) | 324 | APC | Uncertain significance | rs1554071538 | RCV000807496; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111369 | 112111369 | G | T | 5:g.112111369G>T | - | | |
NM_000038.6(APC):c.466G>A (p.Asp156Asn) | 324 | APC | Uncertain significance | rs1554071538 | RCV001245359; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111369 | 112111369 | G | A | 5:g.112111369G>A | - | | |
NM_000038.6(APC):c.468C>T (p.Asp156=) | 324 | APC | Likely benign | rs752627126 | RCV000234653|RCV001022898; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112111371 | 112111371 | C | T | 5:g.112111371C>T | ClinGen:CA10582276 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.468C>G (p.Asp156Glu) | 324 | APC | Uncertain significance | rs752627126 | RCV000540160|RCV000567343|RCV001193497; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 5 | 112111371 | 112111371 | C | G | NC_000005.9:g.112111371C>G | ClinGen:CA039593 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.468C>A (p.Asp156Glu) | 324 | APC | Uncertain significance | -1 | RCV002013016; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111371 | 112111371 | C | A | 112111371 | - | | |
NM_000038.6(APC):c.470G>A (p.Trp157Ter) | 324 | APC | Pathogenic | rs137854576 | RCV000000852; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111373 | 112111373 | G | A | 5:g.112111373G>A | ClinGen:CA009701,OMIM:611731.0021 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.471G>A (p.Trp157Ter) | 324 | APC | Pathogenic | rs1060503328 | RCV000458690|RCV000583237; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112111374 | 112111374 | G | A | NC_000005.9:g.112111374G>A | ClinGen:CA16022351 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.471G>C (p.Trp157Cys) | 324 | APC | Uncertain significance | rs1060503328 | RCV001308703; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111374 | 112111374 | G | C | 112111374 | - | | |
NM_000038.6(APC):c.473A>T (p.Tyr158Phe) | 324 | APC | Uncertain significance | rs587782477 | RCV000131591|RCV000457825; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111376 | 112111376 | A | T | 5:g.112111376A>T | ClinGen:CA009722 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.475dup (p.Tyr159fs) | 324 | APC | Pathogenic | rs863225361 | RCV000202290|RCV000568959|RCV000694158; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111376 | 112111377 | A | AT | NC_000005.9:g.112111378dup | ClinGen:CA279827 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.474T>C (p.Tyr158=) | 324 | APC | Likely benign | rs1060504891 | RCV000475351|RCV001424228; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111377 | 112111377 | T | C | NC_000005.9:g.112111377T>C | ClinGen:CA16611641 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.474T>A (p.Tyr158Ter) | 324 | APC | Pathogenic | -1 | RCV001993320; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111377 | 112111377 | T | A | 112111377 | - | | |
NM_000038.6(APC):c.476dup (p.Tyr159Ter) | 324 | APC | Pathogenic/Likely pathogenic | rs878853451 | RCV000229992|RCV000486696; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112111378 | 112111379 | T | TA | 5:g.112111378_112111379insA | ClinGen:CA10582277 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.475T>C (p.Tyr159His) | 324 | APC | Uncertain significance | -1 | RCV001959538; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111378 | 112111378 | T | C | 112111378 | - | | |
NM_000038.6(APC):c.476_488del (p.Tyr158_Tyr159insTer) | 324 | APC | Pathogenic | -1 | RCV001384864; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111379 | 112111391 | TACGCTCAACTTCA | T | 112111378 | - | | |
NM_000038.6(APC):c.477del (p.Tyr158_Tyr159insTer) | 324 | APC | Pathogenic | rs730880250 | RCV000157585|RCV000657827; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112111380 | 112111380 | AC | A | 5:g.112111380_112111380del | ClinGen:CA009748 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.477C>T (p.Tyr159=) | 324 | APC | Likely benign | rs863224281 | RCV000198065|RCV000438858|RCV000564772; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112111380 | 112111380 | C | T | NC_000005.9:g.112111380C>T | ClinGen:CA337609 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.477C>G (p.Tyr159Ter) | 324 | APC | Pathogenic | rs863224281 | RCV000236674|RCV000646369|RCV001023029|RCV001844100; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733 | 5 | 112111380 | 112111380 | C | G | NC_000005.9:g.112111380C>G | ClinGen:CA10584237 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.478G>A (p.Ala160Thr) | 324 | APC | Uncertain significance | rs1114167556 | RCV000490878|RCV000529546|RCV001550818; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112111381 | 112111381 | G | A | NC_000005.9:g.112111381G>A | ClinGen:CA16022368 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.481C>T (p.Gln161Ter) | 324 | APC | Pathogenic | rs876658325 | RCV000221156|RCV000467000|RCV001269625; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112111384 | 112111384 | C | T | 5:g.112111384C>T | ClinGen:CA10578293 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.483A>G (p.Gln161=) | 324 | APC | Likely benign | rs1554071578 | RCV000581424|RCV000975503; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111386 | 112111386 | A | G | NC_000005.9:g.112111386A>G | ClinGen:CA445753054 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.484C>A (p.Leu162Ile) | 324 | APC | Uncertain significance | -1 | RCV001884093; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111387 | 112111387 | C | A | 112111387 | - | | |
NM_000038.6(APC):c.487C>T (p.Gln163Ter) | 324 | APC | Pathogenic | rs863225362 | RCV000202083|RCV000500940|RCV000548404|RCV001023190; | N | MedGen:CN517202|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112111390 | 112111390 | C | T | NC_000005.9:g.112111390C>T | ClinGen:CA279721 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.489G>A (p.Gln163=) | 324 | APC | Likely benign | rs876660717 | RCV000942020|RCV001483427; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111392 | 112111392 | G | A | 5:g.112111392G>A | - | | |
NM_000038.6(APC):c.490A>G (p.Asn164Asp) | 324 | APC | Uncertain significance | -1 | RCV001932871; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111393 | 112111393 | A | G | 112111393 | - | | |
NM_000038.6(APC):c.492T>C (p.Asn164=) | 324 | APC | Likely benign | -1 | RCV001420068; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111395 | 112111395 | T | C | 112111395 | - | | |
NM_000038.6(APC):c.495C>T (p.Leu165=) | 324 | APC | Likely benign | rs1554071591 | RCV000646570; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111398 | 112111398 | C | T | 5:g.112111398C>T | ClinGen:CA445753062 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.496A>G (p.Thr166Ala) | 324 | APC | Uncertain significance | rs889134189 | RCV000699460|RCV001023341; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112111399 | 112111399 | A | G | 5:g.112111399A>G | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.496A>T (p.Thr166Ser) | 324 | APC | Uncertain significance | rs889134189 | RCV000695295; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111399 | 112111399 | A | T | 5:g.112111399A>T | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.497_499delinsTT (p.Thr166fs) | 324 | APC | Pathogenic | rs1114167588 | RCV000491467|RCV000694736; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111400 | 112111402 | CTA | TT | NC_000005.9:g.112111400_112111402delinsTT | ClinGen:CA645369351 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.497C>T (p.Thr166Ile) | 324 | APC | Uncertain significance | -1 | RCV002012112; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111400 | 112111400 | C | T | 112111400 | - | | |
NM_000038.6(APC):c.499A>G (p.Lys167Glu) | 324 | APC | Uncertain significance | rs1310352139 | RCV000646309|RCV001524942; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112111402 | 112111402 | A | G | NC_000005.9:g.112111402A>G | ClinGen:CA16022414 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.500A>G (p.Lys167Arg) | 324 | APC | Uncertain significance | -1 | RCV001931523; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111403 | 112111403 | A | G | 112111403 | - | | |
NM_000038.6(APC):c.503G>A (p.Arg168Lys) | 324 | APC | Uncertain significance | rs1554071604 | RCV000539330|RCV001178548; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112111406 | 112111406 | G | A | NC_000005.9:g.112111406G>A | ClinGen:CA16022423 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.505_507del (p.Ile169del) | 324 | APC | Uncertain significance | -1 | RCV002018058; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111407 | 112111409 | GAAT | G | 112111406 | - | | |
NM_000038.6(APC):c.509_512del (p.Asp170fs) | 324 | APC | Pathogenic | rs387906231 | RCV000000841|RCV000201968|RCV000491548|RCV001797583; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733 | 5 | 112111408 | 112111411 | AATAG | A | 5:g.112111408_112111411del | ClinGen:CA009858,OMIM:611731.0012 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.505A>G (p.Ile169Val) | 324 | APC | Uncertain significance | rs878853455 | RCV000227519|RCV000562601|RCV001854819; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111408 | 112111408 | A | G | NC_000005.9:g.112111408A>G | ClinGen:CA10582278 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.506T>C (p.Ile169Thr) | 324 | APC | Uncertain significance | rs1757567981 | RCV001201299|RCV001859218; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111409 | 112111409 | T | C | 5:g.112111409T>C | - | | |
NM_000038.6(APC):c.508_509del (p.Ile169_Asp170insTer) | 324 | APC | Pathogenic/Likely pathogenic | rs886039642 | RCV000255777|RCV000694331; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111410 | 112111411 | TAG | T | 5:g.112111410_112111411del | ClinGen:CA10588376 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.512G>A (p.Ser171Asn) | 324 | APC | Uncertain significance | rs1157254183 | RCV000775321|RCV001215219; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111415 | 112111415 | G | A | NC_000005.9:g.112111415G>A | - | | |
NM_000038.6(APC):c.516dup (p.Pro173fs) | 324 | APC | Pathogenic | rs1580359575 | RCV000805446; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111417 | 112111418 | C | CT | 5:g.112111417_112111418insT | - | | |
NM_000038.6(APC):c.514C>A (p.Leu172Ile) | 324 | APC | Uncertain significance | -1 | RCV001974367; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111417 | 112111417 | C | A | 112111417 | - | | |
NM_000038.6(APC):c.516del (p.Pro173fs) | 324 | APC | Pathogenic | -1 | RCV001383961; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111418 | 112111418 | CT | C | 112111417 | - | | |
NM_000038.6(APC):c.516T>C (p.Leu172=) | 324 | APC | Likely benign | rs777643585 | RCV000461763|RCV000580075; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112111419 | 112111419 | T | C | NC_000005.9:g.112111419T>C | ClinGen:CA040814 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.520T>C (p.Leu174=) | 324 | APC | Likely benign | -1 | RCV001473524; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111423 | 112111423 | T | C | 112111423 | - | | |
NM_000038.6(APC):c.524_531+4del | 324 | APC | Pathogenic/Likely pathogenic | rs863225364 | RCV000202212|RCV000568686|RCV000707133; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111424 | 112111435 | TTAACTGAAAATG | T | NC_000005.9:g.112111427_112111438del | ClinGen:CA279786 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.521T>G (p.Leu174Ter) | 324 | APC | Pathogenic | rs1757571583 | RCV001052876; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111424 | 112111424 | T | G | 5:g.112111424T>G | - | | |
NM_000038.6(APC):c.522_523del (p.Leu174fs) | 324 | APC | Pathogenic | rs1757572270 | RCV001055879; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111425 | 112111426 | TAA | T | 5:g.112111425_112111426del | - | | |
NM_000038.6(APC):c.524C>G (p.Thr175Ser) | 324 | APC | Uncertain significance | rs1554071616 | RCV000646477; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111427 | 112111427 | C | G | 5:g.112111427C>G | ClinGen:CA16022473 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.526G>C (p.Glu176Gln) | 324 | APC | Uncertain significance | -1 | RCV002026921; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111429 | 112111429 | G | C | 112111429 | - | | |
NM_000038.6(APC):c.527A>C (p.Glu176Ala) | 324 | APC | Uncertain significance | rs1580359661 | RCV001023849|RCV001320814; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111430 | 112111430 | A | C | 5:g.112111430A>C | - | | |
NM_000038.6(APC):c.530del (p.Asn177fs) | 324 | APC | Pathogenic | rs1757573424 | RCV001064215; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111430 | 112111430 | GA | G | 5:g.112111430_112111430del | - | | |
NM_000038.6(APC):c.527A>G (p.Glu176Gly) | 324 | APC | Uncertain significance | -1 | RCV001915741; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111430 | 112111430 | A | G | 112111430 | - | | |
NM_000038.6(APC):c.530A>G (p.Asn177Ser) | 324 | APC | Uncertain significance | rs1561478485 | RCV000773905|RCV001350446; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111433 | 112111433 | A | G | NC_000005.9:g.112111433A>G | - | | |
NM_000038.6(APC):c.531T>C (p.Asn177=) | 324 | APC | Uncertain significance | rs1234730026 | RCV001317089; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111434 | 112111434 | T | C | 112111434 | - | | |
NM_000038.6(APC):c.531+1G>C | 324 | APC | Pathogenic/Likely pathogenic | rs876659973 | RCV000217536|RCV000411683|RCV000482581; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112111435 | 112111435 | G | C | 5:g.112111435G>C | ClinGen:CA10578295 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.531+2dup | 324 | APC | Pathogenic | rs1060503257 | RCV000458186; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111435 | 112111436 | G | GT | NC_000005.9:g.112111436dup | ClinGen:CA16611556 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.531+5_531+8del | 324 | APC | Likely pathogenic | rs1554071617 | RCV000646455; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111435 | 112111438 | TGTAA | T | NC_000005.9:g.112111435GTAA[1] | ClinGen:CA658760464 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.531+1G>A | 324 | APC | Pathogenic/Likely pathogenic | rs876659973 | RCV001066456; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111435 | 112111435 | G | A | 5:g.112111435G>A | - | | |
NM_000038.6(APC):c.531+2T>A | 324 | APC | Pathogenic/Likely pathogenic | rs863225365 | RCV000202121|RCV000491613|RCV001203374|RCV001193574; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733 | 5 | 112111436 | 112111436 | T | A | NC_000005.9:g.112111436T>A | ClinGen:CA279737 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.531+2T>C | 324 | APC | Pathogenic | rs863225365 | RCV000202262|RCV000563395|RCV001853251; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111436 | 112111436 | T | C | NC_000005.9:g.112111436T>C | ClinGen:CA279807 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.531+3A>C | 324 | APC | Likely pathogenic | rs1114167550 | RCV000491509|RCV000646317; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111437 | 112111437 | A | C | NC_000005.9:g.112111437A>C | ClinGen:CA645369352 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.531+3A>T | 324 | APC | Uncertain significance | -1 | RCV001873044; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111437 | 112111437 | A | T | 112111437 | - | | |
NM_000038.6(APC):c.531+4A>G | 324 | APC | Uncertain significance | -1 | RCV001970530; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111438 | 112111438 | A | G | 112111438 | - | | |
NM_000038.6(APC):c.531+5G>C | 324 | APC | Pathogenic | rs587779798 | RCV000322468|RCV000491896|RCV000542745; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111439 | 112111439 | G | C | 5:g.112111439G>C | ClinGen:CA10602909 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.531+6T>C | 324 | APC | Uncertain significance | rs1561478536 | RCV000699407; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111440 | 112111440 | T | C | 5:g.112111440T>C | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.531+9C>G | 324 | APC | Uncertain significance | rs1554071622 | RCV000590516|RCV000776342|RCV001242284; | N | MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111443 | 112111443 | C | G | 5:g.112111443C>G | ClinGen:CA658683401 | CN517202 not provided; | |
NM_000038.6(APC):c.531+16G>A | 324 | APC | Likely benign | rs770126046 | RCV000428322|RCV000580247|RCV000662543; | N | MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112111450 | 112111450 | G | A | 5:g.112111450G>A | ClinGen:CA041353 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.10:g.(?_112779849)_(112844136_?)dup | 324 | APC | Uncertain significance | -1 | RCV001033218|RCV001873437; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112115546 | 112179833 | na | na | -1 | - | | |
NM_000038.6(APC):c.532-939G>A | 324 | APC | Likely benign | rs551489857 | RCV000409642; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112115548 | 112115548 | G | A | 5:g.112115548G>A | ClinGen:CA16042085 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.532-939G>T | 324 | APC | Likely benign | rs551489857 | RCV000412192; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112115548 | 112115548 | G | T | NC_000005.9:g.112115548G>T | ClinGen:CA16042086 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.532-14_532-12del | 324 | APC | Likely benign | rs765893314 | RCV000581877|RCV001353825|RCV001722422; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112116468 | 112116470 | TTTA | T | NC_000005.9:g.112116470ATT[1] | ClinGen:CA041434 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.532-17A>T | 324 | APC | Likely benign | rs997606437 | RCV000408966|RCV000439871|RCV000580653; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112116470 | 112116470 | A | T | NC_000005.9:g.112116470A>T | ClinGen:CA16042087 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.532-14A>T | 324 | APC | Likely benign | rs375254915 | RCV000582879|RCV002060567; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116473 | 112116473 | A | T | 5:g.112116473A>T | ClinGen:CA041407 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.532-14A>G | 324 | APC | Likely benign | -1 | RCV002110615; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116473 | 112116473 | A | G | 112116473 | - | | |
NM_000038.6(APC):c.532-10G>A | 324 | APC | Likely benign | -1 | RCV002142942; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116477 | 112116477 | G | A | 112116477 | - | | |
NM_000038.6(APC):c.532-10G>C | 324 | APC | Likely benign | -1 | RCV002174636; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116477 | 112116477 | G | C | 112116477 | - | | |
NM_000038.6(APC):c.532-9del | 324 | APC | Likely benign | rs777844116 | RCV000583887|RCV000646634; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116478 | 112116478 | GT | G | 5:g.112116478_112116478del | ClinGen:CA041581 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.532-8G>A | 324 | APC | Pathogenic/Likely pathogenic | rs1060503323 | RCV000458868|RCV000503571|RCV000491376; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112116479 | 112116479 | G | A | NC_000005.9:g.112116479G>A | ClinGen:CA16611747 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.532-8G>C | 324 | APC | Likely benign | -1 | RCV002203863; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116479 | 112116479 | G | C | 112116479 | - | | |
NM_000038.6(APC):c.532-7G>C | 324 | APC | Likely benign | rs1057520840 | RCV000460487|RCV000579458|RCV001720052; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112116480 | 112116480 | G | C | 5:g.112116480G>C | ClinGen:CA16604648 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.532-7G>T | 324 | APC | Likely benign | rs1057520840 | RCV000646589|RCV001191941; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112116480 | 112116480 | G | T | 5:g.112116480G>T | ClinGen:CA561895117 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.532-6T>C | 324 | APC | Uncertain significance | rs1554072543 | RCV000543401|RCV001775867; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112116481 | 112116481 | T | C | NC_000005.9:g.112116481T>C | ClinGen:CA658657477 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.9:g.(?_112116481)_(112179829_?)dup | 324 | APC | Uncertain significance | -1 | RCV000646698; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116481 | 112179829 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.532-2A>G | 324 | APC | Likely pathogenic | rs752152148 | RCV000646510; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116485 | 112116485 | A | G | NC_000005.9:g.112116485A>G | ClinGen:CA360617494 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.532-2A>C | 324 | APC | Pathogenic | rs752152148 | RCV000824411; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116485 | 112116485 | A | C | 5:g.112116485A>C | - | | |
NM_000038.6(APC):c.532-2A>T | 324 | APC | Pathogenic | -1 | RCV001975132; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116485 | 112116485 | A | T | 112116485 | - | | |
NM_000038.6(APC):c.532-1G>A | 324 | APC | Pathogenic | rs1554072547 | RCV000506699|RCV000646378; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116486 | 112116486 | G | A | 5:g.112116486G>A | ClinGen:CA360617495 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.532T>A (p.Phe178Ile) | 324 | APC | Uncertain significance | rs1060503344 | RCV000465632|RCV001002492|RCV001180356|RCV001753909; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112116487 | 112116487 | T | A | 5:g.112116487T>A | ClinGen:CA16022491 | C2713442 175100 Familial adenomatous polyposis 1; | |
NC_000005.10:g.(?_112780790)_(112846239_?)del | 324 | APC | Pathogenic | -1 | RCV000476663; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116487 | 112181936 | na | na | | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.535T>G (p.Ser179Ala) | 324 | APC | Uncertain significance | -1 | RCV001929162; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116490 | 112116490 | T | G | 112116490 | - | | |
NM_000038.6(APC):c.537del (p.Leu180fs) | 324 | APC | Pathogenic | -1 | RCV001384463; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116491 | 112116491 | TC | T | 112116490 | - | | |
NM_000038.6(APC):c.537C>A (p.Ser179=) | 324 | APC | Likely benign | rs149736402 | RCV000167064|RCV000469176|RCV000587471; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374 | 5 | 112116492 | 112116492 | C | A | 5:g.112116492C>A | ClinGen:CA010363 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.539T>C (p.Leu180Ser) | 324 | APC | Uncertain significance | -1 | RCV002030092; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116494 | 112116494 | T | C | 112116494 | - | | |
NM_000038.6(APC):c.543_546del (p.Thr182fs) | 324 | APC | Pathogenic | rs1554072562 | RCV000533678; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116495 | 112116498 | TACAA | T | NC_000005.9:g.112116498_112116501del | ClinGen:CA645546029 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.540A>G (p.Leu180=) | 324 | APC | Likely benign | -1 | RCV001506836; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116495 | 112116495 | A | G | 112116495 | - | | |
NM_000038.6(APC):c.541C>G (p.Gln181Glu) | 324 | APC | Uncertain significance | rs863225366 | RCV001351852; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116496 | 112116496 | C | G | 112116496 | - | | |
NM_000038.6(APC):c.546A>G (p.Thr182=) | 324 | APC | Likely benign | rs864622392 | RCV000206443|RCV001394400; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116501 | 112116501 | A | G | NC_000005.9:g.112116501A>G | ClinGen:CA350474 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.547_548del (p.Asp183fs) | 324 | APC | Pathogenic | rs1758238807 | RCV001212162|RCV001358573; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112116501 | 112116502 | CAG | C | 5:g.112116501_112116502del | - | | |
NM_000038.6(APC):c.547G>C (p.Asp183His) | 324 | APC | Uncertain significance | rs1758239055 | RCV001207066; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116502 | 112116502 | G | C | 5:g.112116502G>C | - | | |
NM_000038.6(APC):c.548A>T (p.Asp183Val) | 324 | APC | Uncertain significance | rs1758239334 | RCV001210480; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116503 | 112116503 | A | T | 5:g.112116503A>T | - | | |
NM_000038.6(APC):c.551T>C (p.Met184Thr) | 324 | APC | Uncertain significance | rs1257143633 | RCV000582295|RCV000646314|RCV001775905; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202 | 5 | 112116506 | 112116506 | T | C | 5:g.112116506T>C | ClinGen:CA16022537 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.552G>T (p.Met184Ile) | 324 | APC | Uncertain significance | rs1758240617 | RCV001228491; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116507 | 112116507 | G | T | 5:g.112116507G>T | - | | |
NM_000038.6(APC):c.552G>A (p.Met184Ile) | 324 | APC | Uncertain significance | -1 | RCV001372377; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116507 | 112116507 | G | A | 112116507 | - | | |
NM_000038.6(APC):c.554C>T (p.Thr185Ile) | 324 | APC | Uncertain significance | rs1484797510 | RCV001058069; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116509 | 112116509 | C | T | 5:g.112116509C>T | - | | |
NM_000038.6(APC):c.555C>G (p.Thr185=) | 324 | APC | Likely benign | rs1287296038 | RCV000932337|RCV001408739; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116510 | 112116510 | C | G | 5:g.112116510C>G | - | | |
NM_000038.6(APC):c.556A>G (p.Arg186Gly) | 324 | APC | Uncertain significance | rs1580379633 | RCV001024286|RCV001236397; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116511 | 112116511 | A | G | 5:g.112116511A>G | - | | |
NM_000038.6(APC):c.557G>C (p.Arg186Thr) | 324 | APC | Uncertain significance | rs1561485438 | RCV000708952; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116512 | 112116512 | G | C | 5:g.112116512G>C | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.559del (p.Arg187fs) | 324 | APC | Pathogenic | rs1758242304 | RCV001068749; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116513 | 112116513 | GA | G | 5:g.112116513_112116513del | - | | |
NM_000038.6(APC):c.560G>A (p.Arg187Lys) | 324 | APC | Uncertain significance | rs1758242583 | RCV001299691; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116515 | 112116515 | G | A | 112116515 | - | | |
NM_000038.6(APC):c.564A>G (p.Gln188=) | 324 | APC | Conflicting interpretations of pathogenicity | rs377493489 | RCV000163065|RCV000428165|RCV000469275; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116519 | 112116519 | A | G | 5:g.112116519A>G | ClinGen:CA010565 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.565T>C (p.Leu189=) | 324 | APC | Likely benign | rs762146761 | RCV000475660|RCV000562278|RCV000588432; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 5 | 112116520 | 112116520 | T | C | NC_000005.9:g.112116520T>C | ClinGen:CA16611642 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.567G>C (p.Leu189Phe) | 324 | APC | Uncertain significance | rs1554072586 | RCV000536999; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116522 | 112116522 | G | C | NC_000005.9:g.112116522G>C | ClinGen:CA16022574 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.572_573dup (p.Glu192fs) | 324 | APC | Pathogenic | rs1758244651 | RCV001044297; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116524 | 112116525 | A | AAT | 5:g.112116524_112116525insAT | - | | |
NM_000038.6(APC):c.573T>C (p.Tyr191=) | 324 | APC | Benign/Likely benign | rs185154886 | RCV000197836|RCV000309947|RCV000426052|RCV000573062|RCV001701788; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN239210|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202 | 5 | 112116528 | 112116528 | T | C | 5:g.112116528T>C | ClinGen:CA042785 | CN239210 APC-Associated Polyposis Disorders; | |
NM_000038.6(APC):c.578C>G (p.Ala193Gly) | 324 | APC | Uncertain significance | rs780403698 | RCV000702800; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116533 | 112116533 | C | G | 5:g.112116533C>G | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.580A>G (p.Arg194Gly) | 324 | APC | Uncertain significance | rs1758246384 | RCV001238220; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116535 | 112116535 | A | G | 5:g.112116535A>G | - | | |
NM_000038.6(APC):c.581G>C (p.Arg194Thr) | 324 | APC | Uncertain significance | rs200740020 | RCV001245072; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116536 | 112116536 | G | C | 5:g.112116536G>C | - | | |
NM_000038.6(APC):c.582G>A (p.Arg194=) | 324 | APC | Likely benign | rs864622103 | RCV000206184|RCV000573330|RCV001193498; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374 | 5 | 112116537 | 112116537 | G | A | NC_000005.9:g.112116537G>A | ClinGen:CA350246 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.583C>T (p.Gln195Ter) | 324 | APC | Pathogenic | rs749479682 | RCV000484402|RCV001071166; | N | MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116538 | 112116538 | C | T | 5:g.112116538C>T | ClinGen:CA16022611 | CN517202 not provided; | |
NM_000038.6(APC):c.583C>G (p.Gln195Glu) | 324 | APC | Uncertain significance | rs749479682 | RCV000646275; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116538 | 112116538 | C | G | NC_000005.9:g.112116538C>G | ClinGen:CA043181 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.584A>T (p.Gln195Leu) | 324 | APC | Uncertain significance | -1 | RCV001947664; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116539 | 112116539 | A | T | 112116539 | - | | |
NM_000038.6(APC):c.586A>G (p.Ile196Val) | 324 | APC | Uncertain significance | rs1580379926 | RCV001024624|RCV001338379; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116541 | 112116541 | A | G | 5:g.112116541A>G | - | | |
NM_000038.6(APC):c.588C>T (p.Ile196=) | 324 | APC | Likely benign | rs147846364 | RCV000223661|RCV000679072|RCV001080456; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116543 | 112116543 | C | T | 5:g.112116543C>T | ClinGen:CA043300 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.589A>G (p.Arg197Gly) | 324 | APC | Uncertain significance | rs1561485645 | RCV000698205; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116544 | 112116544 | A | G | 5:g.112116544A>G | - | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.591A>T (p.Arg197Ser) | 324 | APC | Uncertain significance | rs1758249528 | RCV001240059; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116546 | 112116546 | A | T | 5:g.112116546A>T | - | | |
NM_000038.6(APC):c.592G>A (p.Val198Ile) | 324 | APC | Uncertain significance | rs1168791940 | RCV000614285|RCV001046918|RCV001024694; | N | MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162 | 5 | 112116547 | 112116547 | G | A | NC_000005.9:g.112116547G>A | ClinGen:CA16022630 | CN169374 not specified; | |
NM_000038.6(APC):c.593T>C (p.Val198Ala) | 324 | APC | Uncertain significance | -1 | RCV001884746; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112116548 | 112116548 | T | C | 112116548 | - | | |
NM_000038.6(APC):c.595dup (p.Ala199fs) | 324 | APC | |