rsid large_string | variant_key large_string | genotype large_string | conclusion large_string | negatives large_string | module large_string | gene large_string | phenotype large_string | category large_string |
|---|---|---|---|---|---|---|---|---|
rs1057519342 | rs1057519342 | C/T | ClinVar: pathogenic (2★) — Retinal dystrophy|not provided|Hereditary spastic paraplegia 48 | genotype: heterozygous (one copy) | null | cancer | AP5Z1 | Retinal dystrophy|not provided|Hereditary spastic paraplegia 48 | |
rs1057519342 | rs1057519342 | T/T | ClinVar: pathogenic (2★) — Retinal dystrophy|not provided|Hereditary spastic paraplegia 48 | genotype: homozygous (two copies) | null | cancer | AP5Z1 | Retinal dystrophy|not provided|Hereditary spastic paraplegia 48 | |
rs1158367720 | rs1158367720 | C/CG | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AP5Z1 | not provided | |
rs1158367720 | rs1158367720 | CG/CG | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AP5Z1 | not provided | |
null | 7:4790448:TTTCTGGGCAGTGTGCTGAG:T | T/TTTCTGGGCAGTGTGCTGAG | ClinVar: likely_pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: heterozygous (one copy) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
null | 7:4790448:TTTCTGGGCAGTGTGCTGAG:T | T/T | ClinVar: likely_pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: homozygous (two copies) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
rs1490988278 | rs1490988278 | C/G | ClinVar: likely_pathogenic (2★) — Hereditary spastic paraplegia 48 | genotype: heterozygous (one copy) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
rs1490988278 | rs1490988278 | C/C | ClinVar: likely_pathogenic (2★) — Hereditary spastic paraplegia 48 | genotype: homozygous (two copies) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
null | 7:4790502:T:TC | T/TC | ClinVar: likely_pathogenic (1★) — Macular dystrophy with or without extraocular features | genotype: heterozygous (one copy) | null | cancer | AP5Z1 | Macular dystrophy with or without extraocular features | |
null | 7:4790502:T:TC | TC/TC | ClinVar: likely_pathogenic (1★) — Macular dystrophy with or without extraocular features | genotype: homozygous (two copies) | null | cancer | AP5Z1 | Macular dystrophy with or without extraocular features | |
rs2115128968 | rs2115128968 | A/G | ClinVar: pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: heterozygous (one copy) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
rs2115128968 | rs2115128968 | A/A | ClinVar: pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: homozygous (two copies) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
rs760734290 | rs760734290 | G/T | ClinVar: pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: heterozygous (one copy) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
rs760734290 | rs760734290 | T/T | ClinVar: pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: homozygous (two copies) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
null | 7:4790794:C:CTGCT | C/CTGCT | ClinVar: likely_pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: heterozygous (one copy) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
null | 7:4790794:C:CTGCT | CTGCT/CTGCT | ClinVar: likely_pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: homozygous (two copies) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
null | 7:4790797:CTGCCCTGCCCAGGTGT:C | C/CTGCCCTGCCCAGGTGT | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AP5Z1 | not provided | |
null | 7:4790797:CTGCCCTGCCCAGGTGT:C | C/C | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AP5Z1 | not provided | |
rs1562414986 | rs1562414986 | G/GCCCAGGTGTCCCC | ClinVar: pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: heterozygous (one copy) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
rs1562414986 | rs1562414986 | G/G | ClinVar: pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: homozygous (two copies) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
rs2115129514 | rs2115129514 | G/GGTGTCCCCCCCAGGTGGTCACC | ClinVar: pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: heterozygous (one copy) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
rs2115129514 | rs2115129514 | G/G | ClinVar: pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: homozygous (two copies) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
rs748132854 | rs748132854 | G/GT | ClinVar: pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: heterozygous (one copy) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
rs748132854 | rs748132854 | G/G | ClinVar: pathogenic (1★) — Hereditary spastic paraplegia 48 | genotype: homozygous (two copies) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
null | 7:4790813:TC:T | T/TC | ClinVar: pathogenic (2★) — Hereditary spastic paraplegia 48 | genotype: heterozygous (one copy) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
null | 7:4790813:TC:T | T/T | ClinVar: pathogenic (2★) — Hereditary spastic paraplegia 48 | genotype: homozygous (two copies) | null | cancer | AP5Z1 | Hereditary spastic paraplegia 48 | |
rs879253784 | rs879253784 | A/G | ClinVar: likely_pathogenic (2★) — Gastric adenocarcinoma and proximal polyposis of the stomach|Hereditary cancer-predisposing syndrome|not provided|Classic or attenuated familial adenomatous polyposis|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Gastric adenocarcinoma and proximal polyposis of the stomach|Hereditary cancer-predisposing syndrome|not provided|Classic or attenuated familial adenomatous polyposis|Familial adenomatous polyposis 1 | |
rs879253784 | rs879253784 | G/G | ClinVar: likely_pathogenic (2★) — Gastric adenocarcinoma and proximal polyposis of the stomach|Hereditary cancer-predisposing syndrome|not provided|Classic or attenuated familial adenomatous polyposis|Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Gastric adenocarcinoma and proximal polyposis of the stomach|Hereditary cancer-predisposing syndrome|not provided|Classic or attenuated familial adenomatous polyposis|Familial adenomatous polyposis 1 | |
rs1580995904 | rs1580995904 | AT/TAGCAAGGG | ClinVar: likely_pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | |
rs1580995904 | rs1580995904 | TAGCAAGGG/TAGCAAGGG | ClinVar: likely_pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | |
rs879253783 | ga4gh:VA.jadBmB0qGE32h6l1oiBWpb9kKyTzb0NI | C/T | ClinVar: pathogenic (2★) — Classic or attenuated familial adenomatous polyposis|Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1|Gastric adenocarcinoma and proximal polyposis of the stomach | genotype: heterozygous (one copy) | null | cancer | APC | Classic or attenuated familial adenomatous polyposis|Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1|Gastric adenocarcinoma and proximal polyposis of the stomach | |
rs879253783 | ga4gh:VA.jadBmB0qGE32h6l1oiBWpb9kKyTzb0NI | C/C | ClinVar: pathogenic (2★) — Classic or attenuated familial adenomatous polyposis|Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1|Gastric adenocarcinoma and proximal polyposis of the stomach | genotype: homozygous (two copies) | null | cancer | APC | Classic or attenuated familial adenomatous polyposis|Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1|Gastric adenocarcinoma and proximal polyposis of the stomach | |
rs879253783 | ga4gh:VA.KBMh95jEncd0Kishsr-DFCk3yrToy8tG | G/T | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs879253783 | ga4gh:VA.KBMh95jEncd0Kishsr-DFCk3yrToy8tG | G/G | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs879253785 | rs879253785 | A/G | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Periampullary adenoma|Classic or attenuated familial adenomatous polyposis|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome|Periampullary adenoma|Classic or attenuated familial adenomatous polyposis|Familial adenomatous polyposis 1 | |
rs879253785 | rs879253785 | A/A | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Periampullary adenoma|Classic or attenuated familial adenomatous polyposis|Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome|Periampullary adenoma|Classic or attenuated familial adenomatous polyposis|Familial adenomatous polyposis 1 | |
rs879253781 | rs879253781 | G/GA | ClinVar: likely_pathogenic (1★) — Classic or attenuated familial adenomatous polyposis | genotype: heterozygous (one copy) | null | cancer | APC | Classic or attenuated familial adenomatous polyposis | |
rs879253781 | rs879253781 | G/G | ClinVar: likely_pathogenic (1★) — Classic or attenuated familial adenomatous polyposis | genotype: homozygous (two copies) | null | cancer | APC | Classic or attenuated familial adenomatous polyposis | |
rs1750595782 | rs1750595782 | A/G | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | |
rs1750595782 | rs1750595782 | A/A | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | |
rs786202301 | rs786202301 | G/T | ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs786202301 | rs786202301 | G/G | ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs2532134741 | rs2532134741 | AGTTGTTAA/C | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs2532134741 | rs2532134741 | C/C | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs2149737581 | rs2149737581 | A/T | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs2149737581 | rs2149737581 | T/T | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs2149737617 | rs2149737617 | C/T | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs2149737617 | rs2149737617 | T/T | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs1754786861 | rs1754786861 | G/T | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs1754786861 | rs1754786861 | T/T | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs1361289668 | ga4gh:VA.B3Xvw45ZR08hBVBeyMCa65u6L0olBQiR | A/C | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs1361289668 | ga4gh:VA.B3Xvw45ZR08hBVBeyMCa65u6L0olBQiR | A/A | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs1361289668 | ga4gh:VA.nvmhTiq9xHuXSGoerLp2PzgJ_EMRVTew | C/G | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs1361289668 | ga4gh:VA.nvmhTiq9xHuXSGoerLp2PzgJ_EMRVTew | G/G | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs1554067124 | rs1554067124 | C/CAA | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|Desmoid disease, hereditary|Gastric cancer|Gastric adenocarcinoma and proximal polyposis of the stomach|Hepatocellular carcinoma|Colorectal cancer|not provided | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|Desmoid disease, hereditary|Gastric cancer|Gastric adenocarcinoma and proximal polyposis of the stomach|Hepatocellular carcinoma|Colorectal cancer|not provided | |
rs1554067124 | rs1554067124 | C/C | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|Desmoid disease, hereditary|Gastric cancer|Gastric adenocarcinoma and proximal polyposis of the stomach|Hepatocellular carcinoma|Colorectal cancer|not provided | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|Desmoid disease, hereditary|Gastric cancer|Gastric adenocarcinoma and proximal polyposis of the stomach|Hepatocellular carcinoma|Colorectal cancer|not provided | |
rs1193918618 | rs1193918618 | A/AT | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs1193918618 | rs1193918618 | AT/AT | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs1114167561 | rs1114167561 | T/TC | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs1114167561 | rs1114167561 | T/T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs1114167593 | rs1114167593 | A/AC | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | |
rs1114167593 | rs1114167593 | A/A | ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | |
rs1554067141 | rs1554067141 | C/CA | ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs1554067141 | rs1554067141 | C/C | ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
null | 5:112754998:AC:A | A/AC | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
null | 5:112754998:AC:A | A/A | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
null | 5:112755006:CTG:C | C/CTG | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
null | 5:112755006:CTG:C | C/C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
null | 5:112755015:CTA:C | C/CTA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
null | 5:112755015:CTA:C | C/C | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs2532139587 | rs2532139587 | T/TA | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs2532139587 | rs2532139587 | TA/TA | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs1561445097 | rs1561445097 | T/TG | ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Familial multiple polyposis syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1|Familial multiple polyposis syndrome | |
rs1561445097 | rs1561445097 | TG/TG | ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Familial multiple polyposis syndrome | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1|Familial multiple polyposis syndrome | |
rs750508765 | ga4gh:VA.8AeCf7aOkokL5x6x2VItcSUG7LSOlcNy | A/G | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | |
rs750508765 | ga4gh:VA.8AeCf7aOkokL5x6x2VItcSUG7LSOlcNy | A/A | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | |
rs750508765 | ga4gh:VA.1ZJWkiH_OFMuN218WB__d0JkGWQuQPfC | C/G | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs750508765 | ga4gh:VA.1ZJWkiH_OFMuN218WB__d0JkGWQuQPfC | C/C | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome | |
rs750508765 | ga4gh:VA.qwXRly_xGVcKanvXGOCuwz-7ApE858Ll | G/T | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|not provided | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|not provided | |
rs750508765 | ga4gh:VA.qwXRly_xGVcKanvXGOCuwz-7ApE858Ll | T/T | ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|not provided | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|not provided | |
rs1554067164 | rs1554067164 | C/T | ClinVar: likely_pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not provided | |
rs1554067164 | rs1554067164 | C/C | ClinVar: likely_pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not provided | |
null | 5:112766307:A:ATTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGTT | A/ATTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGTT | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
null | 5:112766307:A:ATTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGTT | ATTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGTT/ATTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGTT | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
null | 5:112766321:AACAGGAAGT:A | A/AACAGGAAGT | ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
null | 5:112766321:AACAGGAAGT:A | A/A | ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs886039625 | ga4gh:VA.j8XHsXG0tRnAzHkVxAwwgCRimFumnrbu | A/G | ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not provided | |
rs886039625 | ga4gh:VA.j8XHsXG0tRnAzHkVxAwwgCRimFumnrbu | G/G | ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not provided | |
rs886039625 | ga4gh:VA.6pnsf_mCLQufvGrawprv8netgw6jVft_ | A/T | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs886039625 | ga4gh:VA.6pnsf_mCLQufvGrawprv8netgw6jVft_ | T/T | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs1554069481 | rs1554069481 | A/G | ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | |
rs1554069481 | rs1554069481 | A/A | ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | |
null | 5:112766330:TA:T | T/TA | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1 | |
null | 5:112766330:TA:T | T/T | ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1 | |
rs2149783845 | rs2149783845 | T/TA | ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | APC | Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | |
rs2149783845 | rs2149783845 | TA/TA | ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | APC | Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | |
rs587781694 | rs587781694 | T/TAAAC | ClinVar: pathogenic (2★) — Classic or attenuated familial adenomatous polyposis|Gastric cancer|not provided|Hereditary cancer-predisposing syndrome|Familial multiple polyposis syndrome|Familial adenomatous polyposis 1|Carcinoma of colon | genotype: heterozygous (one copy) | null | cancer | APC | Classic or attenuated familial adenomatous polyposis|Gastric cancer|not provided|Hereditary cancer-predisposing syndrome|Familial multiple polyposis syndrome|Familial adenomatous polyposis 1|Carcinoma of colon | |
rs587781694 | rs587781694 | T/T | ClinVar: pathogenic (2★) — Classic or attenuated familial adenomatous polyposis|Gastric cancer|not provided|Hereditary cancer-predisposing syndrome|Familial multiple polyposis syndrome|Familial adenomatous polyposis 1|Carcinoma of colon | genotype: homozygous (two copies) | null | cancer | APC | Classic or attenuated familial adenomatous polyposis|Gastric cancer|not provided|Hereditary cancer-predisposing syndrome|Familial multiple polyposis syndrome|Familial adenomatous polyposis 1|Carcinoma of colon | |
rs1581160030 | rs1581160030 | A/T | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|Classic or attenuated familial adenomatous polyposis | genotype: heterozygous (one copy) | null | cancer | APC | Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|Classic or attenuated familial adenomatous polyposis | |
rs1581160030 | rs1581160030 | T/T | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|Classic or attenuated familial adenomatous polyposis | genotype: homozygous (two copies) | null | cancer | APC | Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|Classic or attenuated familial adenomatous polyposis |
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