rsid large_stringlengths 5 12 ⌀ | variant_key large_stringlengths 5 111 ⌀ | conclusion large_stringlengths 10 1.08k ⌀ | negatives large_stringclasses 0
values | module large_stringclasses 10
values | gene large_stringlengths 0 12 ⌀ | phenotype large_stringlengths 0 1.02k ⌀ | category large_stringclasses 13
values |
|---|---|---|---|---|---|---|---|
null | ga4gh:VA.PLBGBdR3lLVTkh6Pzx5JCyav9jZWbg4z | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
null | ga4gh:VA.PLBGBdR3lLVTkh6Pzx5JCyav9jZWbg4z | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148638603 | rs2148638603 | ClinVar: likely_pathogenic (1★) — Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148638603 | rs2148638603 | ClinVar: likely_pathogenic (1★) — Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs797044865 | rs797044865 | ClinVar: likely_pathogenic (2★) — not provided|Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided|Inborn genetic diseases | |
rs797044865 | rs797044865 | ClinVar: likely_pathogenic (2★) — not provided|Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ATRX | not provided|Inborn genetic diseases | |
rs122445105 | rs122445105 | ClinVar: pathogenic (2★) — Renier-Gabreels-Jasper syndrome|Inborn genetic diseases|Acquired hemoglobin H disease|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | Renier-Gabreels-Jasper syndrome|Inborn genetic diseases|Acquired hemoglobin H disease|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome|not provided | |
rs122445105 | rs122445105 | ClinVar: pathogenic (2★) — Renier-Gabreels-Jasper syndrome|Inborn genetic diseases|Acquired hemoglobin H disease|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ATRX | Renier-Gabreels-Jasper syndrome|Inborn genetic diseases|Acquired hemoglobin H disease|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome|not provided | |
null | ga4gh:VA.Y750GWWn2RMtmS6bC-p6OT17D5Al32dI | ClinVar: likely_pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ATRX | Inborn genetic diseases | |
null | ga4gh:VA.Y750GWWn2RMtmS6bC-p6OT17D5Al32dI | ClinVar: likely_pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ATRX | Inborn genetic diseases | |
rs1057524153 | rs1057524153 | ClinVar: likely_pathogenic (2★) — not provided|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1057524153 | rs1057524153 | ClinVar: likely_pathogenic (2★) — not provided|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | not provided|Alpha thalassemia-X-linked intellectual disability syndrome | |
null | ga4gh:VA.Mk8d4nrXr7exWgogZcA_AYr5Rwoupbex | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
null | ga4gh:VA.Mk8d4nrXr7exWgogZcA_AYr5Rwoupbex | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
null | ga4gh:VA.xrMulJJMUXbLGFnL57N4pR7P-Y1R2a5O | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
null | ga4gh:VA.xrMulJJMUXbLGFnL57N4pR7P-Y1R2a5O | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148640122 | rs2148640122 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs2148640122 | rs2148640122 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs1557142844 | rs1557142844 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs1557142844 | rs1557142844 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs122445111 | rs122445111 | ClinVar: pathogenic (2★) — Inborn genetic diseases|Intellectual disability-hypotonic facies syndrome, X-linked|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Inborn genetic diseases|Intellectual disability-hypotonic facies syndrome, X-linked|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs122445111 | rs122445111 | ClinVar: pathogenic (2★) — Inborn genetic diseases|Intellectual disability-hypotonic facies syndrome, X-linked|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Inborn genetic diseases|Intellectual disability-hypotonic facies syndrome, X-linked|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs886041700 | rs886041700 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs886041700 | rs886041700 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs1057518708 | rs1057518708 | ClinVar: likely_pathogenic (1★) — not provided|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1057518708 | rs1057518708 | ClinVar: likely_pathogenic (1★) — not provided|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | not provided|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs122445103 | rs122445103 | ClinVar: likely_pathogenic (1★) — Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs122445103 | rs122445103 | ClinVar: likely_pathogenic (1★) — Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | |
null | ga4gh:VA.4SuMStqgcqMtoPMOgN3raDRUIVxKXbhZ | ClinVar: pathogenic (1★) — Intellectual disability-hypotonic facies syndrome, X-linked, 1 | genotype: heterozygous (one copy) | null | cancer | ATRX | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
null | ga4gh:VA.4SuMStqgcqMtoPMOgN3raDRUIVxKXbhZ | ClinVar: pathogenic (1★) — Intellectual disability-hypotonic facies syndrome, X-linked, 1 | genotype: homozygous (two copies) | null | cancer | ATRX | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
rs2148656473 | rs2148656473 | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148656473 | rs2148656473 | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
null | ga4gh:VA.kvEU0JKB5O1sWYtDEHe8Jnfk5qeN_RFm | ClinVar: likely_pathogenic (1★) — Intellectual disability-hypotonic facies syndrome, X-linked, 1|Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Intellectual disability-hypotonic facies syndrome, X-linked, 1|Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome | |
null | ga4gh:VA.kvEU0JKB5O1sWYtDEHe8Jnfk5qeN_RFm | ClinVar: likely_pathogenic (1★) — Intellectual disability-hypotonic facies syndrome, X-linked, 1|Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Intellectual disability-hypotonic facies syndrome, X-linked, 1|Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs398123425 | rs398123425 | ClinVar: pathogenic (2★) — not provided|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs398123425 | rs398123425 | ClinVar: pathogenic (2★) — not provided|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | not provided|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1060499759 | rs1060499759 | ClinVar: likely_pathogenic (1★) — Global developmental delay|Microcephaly | genotype: heterozygous (one copy) | null | cancer | ATRX | Global developmental delay|Microcephaly | |
rs1060499759 | rs1060499759 | ClinVar: likely_pathogenic (1★) — Global developmental delay|Microcephaly | genotype: homozygous (two copies) | null | cancer | ATRX | Global developmental delay|Microcephaly | |
rs1064795090 | rs1064795090 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs1064795090 | rs1064795090 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs2148657465 | rs2148657465 | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148657465 | rs2148657465 | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2520079176 | rs2520079176 | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2520079176 | rs2520079176 | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1603240572 | rs1603240572 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1 | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
rs1603240572 | rs1603240572 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1 | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
rs398123424 | rs398123424 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs398123424 | rs398123424 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs1557148369 | rs1557148369 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs1557148369 | rs1557148369 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs2520135479 | rs2520135479 | ClinVar: pathogenic (1★) — Intellectual disability-hypotonic facies syndrome, X-linked, 1 | genotype: heterozygous (one copy) | null | cancer | ATRX | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
rs2520135479 | rs2520135479 | ClinVar: pathogenic (1★) — Intellectual disability-hypotonic facies syndrome, X-linked, 1 | genotype: homozygous (two copies) | null | cancer | ATRX | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
rs398123422 | rs398123422 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs398123422 | rs398123422 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs2520173058 | rs2520173058 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2520173058 | rs2520173058 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148685852 | rs2148685852 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148685852 | rs2148685852 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
null | X:77698619:ACT:A | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
null | X:77698619:ACT:A | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs398123420 | rs398123420 | ClinVar: pathogenic (2★) — Alpha-thalassemia/intellectual disability syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha-thalassemia/intellectual disability syndrome|not provided | |
rs398123420 | rs398123420 | ClinVar: pathogenic (2★) — Alpha-thalassemia/intellectual disability syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha-thalassemia/intellectual disability syndrome|not provided | |
rs122445108 | rs122445108 | ClinVar: pathogenic (2★) — Inborn genetic diseases|not provided|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Acquired hemoglobin H disease|Intellectual disability-hypotonic facies syndrome, X-linked|Intellectual disability | genotype: heteroz... | null | cancer | ATRX | Inborn genetic diseases|not provided|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Acquired hemoglobin H disease|Intellectual disability-hypotonic facies syndrome, X-linked|Intellectual disability | |
rs122445108 | rs122445108 | ClinVar: pathogenic (2★) — Inborn genetic diseases|not provided|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Acquired hemoglobin H disease|Intellectual disability-hypotonic facies syndrome, X-linked|Intellectual disability | genotype: homozyg... | null | cancer | ATRX | Inborn genetic diseases|not provided|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Acquired hemoglobin H disease|Intellectual disability-hypotonic facies syndrome, X-linked|Intellectual disability | |
rs2073481839 | rs2073481839 | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2073481839 | rs2073481839 | ClinVar: likely_pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
null | ga4gh:VA.2Ma1jIng0ykGDKXjTPloiBG02ZnskfsB | ClinVar: pathogenic (1★) — Craniometadiaphyseal osteosclerosis with hip dysplasia | genotype: heterozygous (one copy) | null | cancer | AXIN1 | Craniometadiaphyseal osteosclerosis with hip dysplasia | |
null | ga4gh:VA.2Ma1jIng0ykGDKXjTPloiBG02ZnskfsB | ClinVar: pathogenic (1★) — Craniometadiaphyseal osteosclerosis with hip dysplasia | genotype: homozygous (two copies) | null | cancer | AXIN1 | Craniometadiaphyseal osteosclerosis with hip dysplasia | |
null | 17:65533984:CG:C | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
null | 17:65533984:CG:C | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2043866331 | rs2043866331 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2043866331 | rs2043866331 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
null | 17:65533989:TG:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
null | 17:65533989:TG:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
rs1299440644 | rs1299440644 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome | |
rs1299440644 | rs1299440644 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome | |
rs1598093952 | rs1598093952 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome | |
rs1598093952 | rs1598093952 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome | |
rs2509389531 | rs2509389531 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|AXIN2-related disorder | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome|AXIN2-related disorder | |
rs2509389531 | rs2509389531 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|AXIN2-related disorder | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome|AXIN2-related disorder | |
rs2509389560 | rs2509389560 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2509389560 | rs2509389560 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2144419495 | rs2144419495 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2144419495 | rs2144419495 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2509389582 | rs2509389582 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2509389582 | rs2509389582 | ClinVar: pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2144419566 | rs2144419566 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome|not provided | |
rs2144419566 | rs2144419566 | ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome|not provided | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome|not provided | |
null | 17:65534030:C:CA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
null | 17:65534030:C:CA | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
rs752865337 | rs752865337 | ClinVar: pathogenic (2★) — AXIN2-related disorder|Oligodontia-cancer predisposition syndrome|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | AXIN2-related disorder|Oligodontia-cancer predisposition syndrome|Hereditary cancer-predisposing syndrome | |
rs752865337 | rs752865337 | ClinVar: pathogenic (2★) — AXIN2-related disorder|Oligodontia-cancer predisposition syndrome|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | AXIN2-related disorder|Oligodontia-cancer predisposition syndrome|Hereditary cancer-predisposing syndrome | |
rs2144432097 | rs2144432097 | ClinVar: likely_pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
rs2144432097 | rs2144432097 | ClinVar: likely_pathogenic (1★) — Oligodontia-cancer predisposition syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Oligodontia-cancer predisposition syndrome | |
null | 17:65535631:TG:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
null | 17:65535631:TG:T | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
rs2509396878 | rs2509396878 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
rs2509396878 | rs2509396878 | ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
rs2509396943 | rs2509396943 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome | |
rs2509396943 | rs2509396943 | ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies) | null | cancer | AXIN2 | Hereditary cancer-predisposing syndrome |
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