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 | 3:142566126:CA:C | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142566126:CA:C | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | 3:142566138:G:GC | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | 3:142566138:G:GC | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs1443962821 | rs1443962821 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs1443962821 | rs1443962821 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.Yx8Tj4IuLosdVkfiBHHF3rIvM_VLnlUL | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.Yx8Tj4IuLosdVkfiBHHF3rIvM_VLnlUL | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs755536244 | rs755536244 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs755536244 | rs755536244 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs2473446366 | rs2473446366 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
rs2473446366 | rs2473446366 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
null | ga4gh:VA.t2a66OPo_yBqs6BHynW6tf8UPa-C33Vp | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATR | not provided | |
null | ga4gh:VA.t2a66OPo_yBqs6BHynW6tf8UPa-C33Vp | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATR | not provided | |
rs398123428 | rs398123428 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs398123428 | rs398123428 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs797044723 | rs797044723 | ClinVar: pathogenic (2★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs797044723 | rs797044723 | ClinVar: pathogenic (2★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs2519899305 | rs2519899305 | 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 | |
rs2519899305 | rs2519899305 | 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 | |
rs1557034957 | rs1557034957 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs1557034957 | rs1557034957 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs1569513017 | rs1569513017 | ClinVar: pathogenic (2★) — Alpha thalassemia-X-linked intellectual disability syndrome|Global developmental delay | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome|Global developmental delay | |
rs1569513017 | rs1569513017 | ClinVar: pathogenic (2★) — Alpha thalassemia-X-linked intellectual disability syndrome|Global developmental delay | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome|Global developmental delay | |
null | X:77508625:A:AT | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
null | X:77508625:A:AT | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs2062763812 | rs2062763812 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs2062763812 | rs2062763812 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs1569515457 | rs1569515457 | 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 | |
rs1569515457 | rs1569515457 | 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 | |
rs122445099 | rs122445099 | ClinVar: pathogenic (2★) — ATRX-related disorder|not provided|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | ATRX-related disorder|not provided|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs122445099 | rs122445099 | ClinVar: pathogenic (2★) — ATRX-related disorder|not provided|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | ATRX-related disorder|not provided|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1057518225 | rs1057518225 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs1057518225 | rs1057518225 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs1557041077 | rs1557041077 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1557041077 | rs1557041077 | 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 | ga4gh:VA.zdjoxBt5NieSt922T2k67jzLRPkXZiat | ClinVar: likely_pathogenic (1★) — Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1 | genotype: heterozygous (one copy) | null | cancer | ATRX | Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
null | ga4gh:VA.zdjoxBt5NieSt922T2k67jzLRPkXZiat | ClinVar: likely_pathogenic (1★) — Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1 | genotype: homozygous (two copies) | null | cancer | ATRX | Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
null | ga4gh:VA.1y8R5NE0usqOw3JSI8Cu6QuPTBD9Gxml | 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.1y8R5NE0usqOw3JSI8Cu6QuPTBD9Gxml | 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.LKgH5XkOgLTqXgG20S8wFstwHN-ON3jJ | 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.LKgH5XkOgLTqXgG20S8wFstwHN-ON3jJ | 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 | |
rs2147760387 | rs2147760387 | 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 | |
rs2147760387 | rs2147760387 | 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 | |
rs2147761759 | rs2147761759 | 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 | |
rs2147761759 | rs2147761759 | 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.RfUd-oKEXLcdynI63eQzMExe6eH6I7jX | 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.RfUd-oKEXLcdynI63eQzMExe6eH6I7jX | 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 | |
rs1057517707 | rs1057517707 | ClinVar: pathogenic (2★) — Intellectual disability-hypotonic facies syndrome, X-linked, 1|not provided|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Intellectual disability-hypotonic facies syndrome, X-linked, 1|not provided|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1057517707 | rs1057517707 | ClinVar: pathogenic (2★) — Intellectual disability-hypotonic facies syndrome, X-linked, 1|not provided|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Intellectual disability-hypotonic facies syndrome, X-linked, 1|not provided|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs122445101 | rs122445101 | ClinVar: pathogenic (2★) — ATRX-related disorder|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|not provided|Intellectual disability-hypotonic facies syndrome, X-linked | genotype: heterozygous (one copy) | null | cancer | ATRX | ATRX-related disorder|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|not provided|Intellectual disability-hypotonic facies syndrome, X-linked | |
rs122445101 | rs122445101 | ClinVar: pathogenic (2★) — ATRX-related disorder|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|not provided|Intellectual disability-hypotonic facies syndrome, X-linked | genotype: homozygous (two copies) | null | cancer | ATRX | ATRX-related disorder|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|not provided|Intellectual disability-hypotonic facies syndrome, X-linked | |
rs2147950429 | rs2147950429 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2147950429 | rs2147950429 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1057517948 | ga4gh:VA.bgIj4yjFtwq4Dyw_tiU9l-QraZq8NQ9j | ClinVar: likely_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 | |
rs1057517948 | ga4gh:VA.bgIj4yjFtwq4Dyw_tiU9l-QraZq8NQ9j | ClinVar: likely_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 | |
rs1057517948 | ga4gh:VA.kqKtsAyYRuLGxiTGnn9yGOlwbiS_Hl83 | ClinVar: pathogenic (2★) — Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|ATRX-related disorder|not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|ATRX-related disorder|not provided | |
rs1057517948 | ga4gh:VA.kqKtsAyYRuLGxiTGnn9yGOlwbiS_Hl83 | ClinVar: pathogenic (2★) — Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|ATRX-related disorder|not provided | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|ATRX-related disorder|not provided | |
rs2148019913 | rs2148019913 | ClinVar: pathogenic (2★) — not provided|Abnormality of the nervous system|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided|Abnormality of the nervous system|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148019913 | rs2148019913 | ClinVar: pathogenic (2★) — not provided|Abnormality of the nervous system|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | not provided|Abnormality of the nervous system|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148020083 | rs2148020083 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148020083 | rs2148020083 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148090735 | rs2148090735 | ClinVar: likely_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 | |
rs2148090735 | rs2148090735 | ClinVar: likely_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 | |
rs1060499658 | rs1060499658 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1060499658 | rs1060499658 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs122445096 | rs122445096 | 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 | |
rs122445096 | rs122445096 | 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 | |
rs1557082399 | rs1557082399 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ATRX | Inborn genetic diseases | |
rs1557082399 | rs1557082399 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ATRX | Inborn genetic diseases | |
rs886041903 | rs886041903 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs886041903 | rs886041903 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
null | X:77599730:AC:A | ClinVar: likely_pathogenic (1★) — ATR-X-related syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | ATR-X-related syndrome | |
null | X:77599730:AC:A | ClinVar: likely_pathogenic (1★) — ATR-X-related syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | ATR-X-related syndrome | |
null | ga4gh:VA.M8rURKldan_PUJFPntIpHh_5hLXDyrbK | ClinVar: likely_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 | |
null | ga4gh:VA.M8rURKldan_PUJFPntIpHh_5hLXDyrbK | ClinVar: likely_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 | |
rs1057521987 | rs1057521987 | ClinVar: likely_pathogenic (2★) — Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Neonatal hypotonia | genotype: heterozygous (one copy) | null | cancer | ATRX | Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Neonatal hypotonia | |
rs1057521987 | rs1057521987 | ClinVar: likely_pathogenic (2★) — Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Neonatal hypotonia | genotype: homozygous (two copies) | null | cancer | ATRX | Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Neonatal hypotonia | |
rs2067371776 | rs2067371776 | ClinVar: likely_pathogenic (2★) — 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 | |
rs2067371776 | rs2067371776 | ClinVar: likely_pathogenic (2★) — 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 | |
rs1602876401 | rs1602876401 | 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 | |
rs1602876401 | rs1602876401 | 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 | |
rs2148259374 | rs2148259374 | 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 | |
rs2148259374 | rs2148259374 | 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.lOtZfjDNn206usq9hBiwfoZmbgOI6JZy | 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.lOtZfjDNn206usq9hBiwfoZmbgOI6JZy | 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 | |
rs2148259855 | rs2148259855 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs2148259855 | rs2148259855 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
null | ga4gh:VA.o1WwhBcVn03JqHCviFNXJC6ERUDHdLhe | 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.o1WwhBcVn03JqHCviFNXJC6ERUDHdLhe | 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 | |
rs2148260344 | rs2148260344 | ClinVar: likely_pathogenic (1★) — ATRX-related disorder | genotype: heterozygous (one copy) | null | cancer | ATRX | ATRX-related disorder | |
rs2148260344 | rs2148260344 | ClinVar: likely_pathogenic (1★) — ATRX-related disorder | genotype: homozygous (two copies) | null | cancer | ATRX | ATRX-related disorder | |
null | ga4gh:VA.BbNe1ixmnF45kThQM5n8qM6nXRhUB0Se | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
null | ga4gh:VA.BbNe1ixmnF45kThQM5n8qM6nXRhUB0Se | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs2148260943 | rs2148260943 | ClinVar: likely_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 | |
rs2148260943 | rs2148260943 | ClinVar: likely_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 | |
null | ga4gh:VA.2UPxb9FpmPa9LVJrhdA0FPQuOWuk9c6B | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
null | ga4gh:VA.2UPxb9FpmPa9LVJrhdA0FPQuOWuk9c6B | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs2148270367 | rs2148270367 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs2148270367 | rs2148270367 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided |
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