Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001127511.3(APC):c.-204A>G | 324 | APC | Conflicting interpretations of pathogenicity | 554351451 | RCV000764556|RCV002526235; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Onto | 5 | 112043211 | 112043211 | | | NC_000005.9:g.112043211A>G | ClinGen:CA124924789 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.-128G>C | 324 | APC | Conflicting interpretations of pathogenicity | 543098847 | RCV000764557|RCV002526226; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Onto | 5 | 112043287 | 112043287 | | | 5:g.112043287G>C | ClinGen:CA124924970 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_001127511.3(APC):c.1A>G (p.Met1Val) | 324 | APC | Uncertain significance | 189807660 | RCV000764558|RCV002231884; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Onto | 5 | 112043415 | 112043415 | | | 5:g.112043415A>G | ClinGen:CA124925094 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.70C>T (p.Arg24Ter) | 324 | APC | Pathogenic/Likely pathogenic | 145945630 | RCV000164002|RCV000227124|RCV000482864|RCV000508297|RCV000844605|RCV000763534|RCV001353710|RCV003162685; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MedGen:C1851124,OMIM:135290, Orphanet:873; MOND | 5 | 112090657 | 112090657 | | | NC_000005.9:g.112090657C>T | ClinGen:CA012843 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.245T>C (p.Phe82Ser) | 324 | APC | Uncertain significance | 1179254201 | RCV000569708|RCV001293968|RCV002530355; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112102910 | 112102910 | | | 5:g.112102910T>C | ClinGen:CA16021881 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.607C>G (p.Gln203Glu) | 324 | APC | Conflicting interpretations of pathogenicity | 141576417 | RCV000034394|RCV000115109|RCV000120051|RCV000709878|RCV000757929|RCV000987552|RCV001156934; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; MedGen:C1851124,OMIM:135290, Orphanet:873|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MOND | 5 | 112116562 | 112116562 | | | 5:g.112116562C>G | ClinGen:CA010884 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.646C>T (p.Arg216Ter) | 324 | APC | Pathogenic | 62619935 | RCV000115111|RCV000223521|RCV000763536|RCV002228241|RCV002281931|RCV003460798; | N | MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; Human Pheno | 5 | 112128143 | 112128143 | | | NC_000005.9:g.112128143C>T | ClinGen:CA012198 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.847C>T (p.Arg283Ter) | 324 | APC | Pathogenic | 786201856 | RCV000164351|RCV000202113|RCV000501350|RCV000763538|RCV001353622|RCV001789763|RCV002517615|RCV003337238; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0006 | 5 | 112151204 | 112151204 | | | 5:g.112151204C>T | ClinGen:CA015543 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.933+1G>A | 324 | APC | Pathogenic/Likely pathogenic | 876660765 | RCV000217532|RCV000763539|RCV002516170|RCV003337260; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP | 5 | 112151291 | 112151291 | | | 5:g.112151291G>A | ClinGen:CA10578303 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.1553C>T (p.Thr518Met) | 324 | APC | Uncertain significance | 371453363 | RCV000221284|RCV000461223|RCV000764560|RCV001284232; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP | 5 | 112163630 | 112163630 | | | 5:g.112163630C>T | ClinGen:CA028394 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) | 324 | APC | Conflicting interpretations of pathogenicity | 138098808 | RCV000199835|RCV000235744|RCV000217491|RCV000656746|RCV000764561; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:000 | 5 | 112163683 | 112163683 | | | NC_000005.9:g.112163683G>A | ClinGen:CA028603 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) | 324 | APC | Pathogenic | 137854573 | RCV000000845|RCV000129303|RCV000210172|RCV000482405|RCV000763541|RCV000844608|RCV002227969|RCV003162203; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1858438|MedGen:C3661900|MONDO:MONDO:0002032,MedGen:C0699790; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:000 | 5 | 112164586 | 112164586 | | | NC_000005.9:g.112164586C>T | ClinGen:CA005424,OMIM:611731.0015 | C1858438 Colorectal cancer, susceptibility to; | |
NM_000038.6(APC):c.1762G>A (p.Val588Ile) | 324 | APC | Conflicting interpretations of pathogenicity | 372416031 | RCV000554226|RCV000561260|RCV000764562|RCV001356454|RCV002231842|RCV003403312|RCV003153714; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype | 5 | 112170666 | 112170666 | | | 5:g.112170666G>A | ClinGen:CA029508 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.1820G>C (p.Cys607Ser) | 324 | APC | Uncertain significance | 1554083153 | RCV000573972|RCV001853812|RCV002463453; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873 | 5 | 112170724 | 112170724 | | | 5:g.112170724G>C | ClinGen:CA16025305 | C0027672 Hereditary cancer-predisposing syndrome; | |
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) | 324 | APC | Pathogenic | 587779783 | RCV000115073|RCV000501097|RCV001270020|RCV001292808|RCV001824606|RCV002513947|RCV003337232; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MedGen:C3661900|MedGen:C1851124,OMIM:135290, Orphanet:873|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; MONDO:MONDO:0016613, | 5 | 112173704 | 112173704 | | | NC_000005.9:g.112173704C>T | ClinGen:CA007452 | CN240755 Familial adenomatous polyposis; | |
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) | 324 | APC | Conflicting interpretations of pathogenicity | 186641437 | RCV000220641|RCV000485918|RCV000764563|RCV001174911|RCV002515684; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontolog | 5 | 112173765 | 112173765 | | | 5:g.112173765A>G | ClinGen:CA032224 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.2719G>C (p.Gly907Arg) | 324 | APC | Conflicting interpretations of pathogenicity | 771458366 | RCV001016394|RCV002537517|RCV003141857; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873 | 5 | 112174010 | 112174010 | | | 5:g.112174010G>C | - | | |
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) | 324 | APC | Pathogenic | 137854575 | RCV000000848|RCV000129305|RCV000202012|RCV000210151|RCV000763542|RCV000844610|RCV003337227; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:C1858438|MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:000 | 5 | 112174096 | 112174096 | | | NC_000005.9:g.112174096C>A | ClinGen:CA007805,OMIM:611731.0018 | C1858438 Colorectal cancer, susceptibility to; | |
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg) | 324 | APC | Uncertain significance | 764706774 | RCV000775140|RCV001332124|RCV001821561|RCV002289766|RCV002528506; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112174980 | 112174980 | | | 5:g.112174980A>G | ClinGen:CA036253 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.3692_3693insA (p.His1232fs) | 324 | APC | Pathogenic | 1765495276 | RCV001292791; | N | MedGen:C1851124,OMIM:135290, Orphanet:873 | 5 | 112174983 | 112174984 | | | 112174983 | - | | |
NM_000038.5(APC):c.4575_4576insAlu1 | 324 | APC | Pathogenic | -1 | RCV000000876; | N | MedGen:C1851124,OMIM:135290, Orphanet:873 | 5 | 112175866 | 112175867 | | | | OMIM:611731.0040 | C1851124 135290 Desmoid disease, hereditary; | |
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) | 324 | APC | Uncertain significance | 1554086241 | RCV000564351|RCV000764564|RCV002526280; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP | 5 | 112176138 | 112176138 | | | NC_000005.9:g.112176138A>T | ClinGen:CA16031952 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) | 324 | APC | Conflicting interpretations of pathogenicity | 769273526 | RCV000163348|RCV000231340|RCV000758732|RCV000764565|RCV002267901|RCV003153439; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C3661900|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0006753,MONDO:MONDO | 5 | 112176396 | 112176396 | | | 5:g.112176396G>A | ClinGen:CA009865 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.5363G>A (p.Arg1788His) | 324 | APC | Conflicting interpretations of pathogenicity | 201472075 | RCV000159559|RCV000211922|RCV000232274|RCV000393057|RCV000590729|RCV000764566; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN239210|MedGen:C3661900|MONDO:MONDO:0002032,MedGen:C0699790; MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:002 | 5 | 112176654 | 112176654 | | | 5:g.112176654G>A | ClinGen:CA010335 | CN239210 APC-Associated Polyposis Disorders; | |
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) | 324 | APC | Conflicting interpretations of pathogenicity | 587780600 | RCV000122787|RCV000159562|RCV000211923|RCV000210078|RCV000210900|RCV000656747|RCV000764567|RCV001155575|RCV003398739; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C1858438|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MedGen:C3661900|MedGen:C1851124,OMIM:135290,O | 5 | 112177092 | 112177092 | | | NC_000005.9:g.112177092C>T | ClinGen:CA010706 | C1858438 Colorectal cancer, susceptibility to; | |
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) | 324 | APC | Pathogenic | 864622228 | RCV000000861|RCV000323095|RCV000491422|RCV002229158; | N | MedGen:C1851124,OMIM:135290, Orphanet:873|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100 | 5 | 112177113 | 112177116 | | | NC_000005.9:g.112177113CAGA[1] | ClinGen:CA350460,OMIM:611731.0026 | C1851124 135290 Desmoid disease, hereditary; | |
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) | 324 | APC | Uncertain significance | 779287035 | RCV000564175|RCV000586700|RCV000765790|RCV002527861; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Pheno | 5 | 112178457 | 112178457 | | | 5:g.112178457G>A | ClinGen:CA16036937 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.7403C>T (p.Ser2468Leu) | 324 | APC | Uncertain significance | -1 | RCV003142448; | N | MedGen:C1851124,OMIM:135290, Orphanet:873 | 5 | 112178694 | 112178694 | | | NC_000005.9:g.112178694C>T | - | | |
NM_000038.6(APC):c.8276G>A (p.Arg2759His) | 324 | APC | Conflicting interpretations of pathogenicity | 538289470 | RCV000130304|RCV000765791|RCV001549810|RCV002228491|RCV002469020|RCV003430706; | N | MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290,Orph | 5 | 112179567 | 112179567 | | | 5:g.112179567G>A | ClinGen:CA014525 | C2713442 175100 Familial adenomatous polyposis 1; | |
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) | 324 | APC | Conflicting interpretations of pathogenicity | 780049836 | RCV000196318|RCV000478701|RCV000567493|RCV000765792|RCV000779724|RCV002228917; | N | MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Pheno | 5 | 112179753 | 112179753 | | | NC_000005.9:g.112179753A>G | ClinGen:CA050869 | C2713442 175100 Familial adenomatous polyposis 1; | |