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.BbaCZyh3rOnXNtzU_Tvnch94x8ImOPIY | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
null | ga4gh:VA.BbaCZyh3rOnXNtzU_Tvnch94x8ImOPIY | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs1569533321 | rs1569533321 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs1569533321 | rs1569533321 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs1602979414 | rs1602979414 | 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 | |
rs1602979414 | rs1602979414 | 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 | |
rs1557106482 | rs1557106482 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1557106482 | rs1557106482 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1557106484 | rs1557106484 | ClinVar: likely_pathogenic (1★) — Short stature|Low-set, posteriorly rotated ears|Absent speech|Microcephaly|Generalized hypotonia|Drooling|Psychomotor deterioration | genotype: heterozygous (one copy) | null | cancer | ATRX | Short stature|Low-set, posteriorly rotated ears|Absent speech|Microcephaly|Generalized hypotonia|Drooling|Psychomotor deterioration | |
rs1557106484 | rs1557106484 | ClinVar: likely_pathogenic (1★) — Short stature|Low-set, posteriorly rotated ears|Absent speech|Microcephaly|Generalized hypotonia|Drooling|Psychomotor deterioration | genotype: homozygous (two copies) | null | cancer | ATRX | Short stature|Low-set, posteriorly rotated ears|Absent speech|Microcephaly|Generalized hypotonia|Drooling|Psychomotor deterioration | |
rs2148338047 | rs2148338047 | 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 | |
rs2148338047 | rs2148338047 | 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.ZP2PpnkK2nvpTUWWqUT3mLk5WUf8KLK5 | 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 | |
null | ga4gh:VA.ZP2PpnkK2nvpTUWWqUT3mLk5WUf8KLK5 | 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 | |
rs2148338719 | rs2148338719 | ClinVar: likely_pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ATRX | Inborn genetic diseases | |
rs2148338719 | rs2148338719 | ClinVar: likely_pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ATRX | Inborn genetic diseases | |
null | ga4gh:VA.1OuAXAtwKDiDZJHn9eqjkH68AGf2Lhwd | ClinVar: likely_pathogenic (1★) — X-linked ATRX-related disorders | genotype: heterozygous (one copy) | null | cancer | ATRX | X-linked ATRX-related disorders | |
null | ga4gh:VA.1OuAXAtwKDiDZJHn9eqjkH68AGf2Lhwd | ClinVar: likely_pathogenic (1★) — X-linked ATRX-related disorders | genotype: homozygous (two copies) | null | cancer | ATRX | X-linked ATRX-related disorders | |
rs122445106 | rs122445106 | 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 | |
rs122445106 | rs122445106 | 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 | |
rs2148343613 | rs2148343613 | ClinVar: likely_pathogenic (1★) — ATRX-related disorder | genotype: heterozygous (one copy) | null | cancer | ATRX | ATRX-related disorder | |
rs2148343613 | rs2148343613 | ClinVar: likely_pathogenic (1★) — ATRX-related disorder | genotype: homozygous (two copies) | null | cancer | ATRX | ATRX-related disorder | |
rs122445093 | rs122445093 | 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 | |
rs122445093 | rs122445093 | 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 | |
rs2522399270 | rs2522399270 | 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 | |
rs2522399270 | rs2522399270 | 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 | X:77634658:G:GT | 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 | X:77634658:G:GT | 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 | |
rs1602996115 | rs1602996115 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1602996115 | rs1602996115 | 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.yuYrnpbz2SzEzSxK0hhRHDNJOI8nPSZZ | ClinVar: pathogenic (1★) — ATR-X-related syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | ATR-X-related syndrome | |
null | ga4gh:VA.yuYrnpbz2SzEzSxK0hhRHDNJOI8nPSZZ | ClinVar: pathogenic (1★) — ATR-X-related syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | ATR-X-related syndrome | |
rs1057517997 | rs1057517997 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs1057517997 | rs1057517997 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs2148436383 | rs2148436383 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs2148436383 | rs2148436383 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
null | ga4gh:VA.pSmkKcTm8Ccu6PtO1RaJti5anGEtng8L | ClinVar: 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.pSmkKcTm8Ccu6PtO1RaJti5anGEtng8L | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1569535642 | rs1569535642 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1569535642 | rs1569535642 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2070034528 | rs2070034528 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2070034528 | rs2070034528 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2070037318 | rs2070037318 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2070037318 | rs2070037318 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2070047352 | rs2070047352 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs2070047352 | rs2070047352 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
null | ga4gh:VA.JltYqZNV1ApG6wu7TZJ-GFzU-LJh_Kbs | ClinVar: likely_pathogenic (1★) — Intellectual disability | genotype: heterozygous (one copy) | null | cancer | ATRX | Intellectual disability | |
null | ga4gh:VA.JltYqZNV1ApG6wu7TZJ-GFzU-LJh_Kbs | ClinVar: likely_pathogenic (1★) — Intellectual disability | genotype: homozygous (two copies) | null | cancer | ATRX | Intellectual disability | |
rs781888847 | rs781888847 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs781888847 | rs781888847 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
null | X:77676298:CCTT:C | 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 | X:77676298:CCTT:C | 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 | |
rs2519910818 | rs2519910818 | ClinVar: pathogenic (2★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2519910818 | rs2519910818 | ClinVar: pathogenic (2★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2071246388 | rs2071246388 | ClinVar: pathogenic (2★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2071246388 | rs2071246388 | ClinVar: pathogenic (2★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
null | ga4gh:VA.pAhYi6SWGjtRAzyRlwTWAQvnwnORJ5r8 | 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.pAhYi6SWGjtRAzyRlwTWAQvnwnORJ5r8 | 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 | |
rs2148590668 | rs2148590668 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148590668 | rs2148590668 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148591494 | rs2148591494 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2148591494 | rs2148591494 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2519936481 | rs2519936481 | ClinVar: likely_pathogenic (1★) — Male infertility with azoospermia or oligozoospermia due to single gene mutation | genotype: heterozygous (one copy) | null | cancer | ATRX | Male infertility with azoospermia or oligozoospermia due to single gene mutation | |
rs2519936481 | rs2519936481 | ClinVar: likely_pathogenic (1★) — Male infertility with azoospermia or oligozoospermia due to single gene mutation | genotype: homozygous (two copies) | null | cancer | ATRX | Male infertility with azoospermia or oligozoospermia due to single gene mutation | |
rs2519941830 | rs2519941830 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2519941830 | rs2519941830 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs891068548 | rs891068548 | 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 | |
rs891068548 | rs891068548 | 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 | |
rs2519954454 | rs2519954454 | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2519954454 | rs2519954454 | 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:77683162:C:CT | 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 | X:77683162:C:CT | 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 | |
rs1557140492 | rs1557140492 | ClinVar: pathogenic (2★) — ATR-X-related syndrome|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | ATR-X-related syndrome|Alpha thalassemia-X-linked intellectual disability syndrome | |
rs1557140492 | rs1557140492 | ClinVar: pathogenic (2★) — ATR-X-related syndrome|Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | ATR-X-related syndrome|Alpha thalassemia-X-linked intellectual disability syndrome | |
null | X:77683322:G:GA | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
null | X:77683322:G:GA | ClinVar: pathogenic (1★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs886044898 | rs886044898 | ClinVar: pathogenic (2★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs886044898 | rs886044898 | ClinVar: pathogenic (2★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs886039493 | rs886039493 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs886039493 | rs886039493 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs2071372283 | ga4gh:VA.EOZ_Mkm8VP444KM3LtQr97PRrwEnuU5r | ClinVar: pathogenic (2★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2071372283 | ga4gh:VA.EOZ_Mkm8VP444KM3LtQr97PRrwEnuU5r | ClinVar: pathogenic (2★) — Alpha thalassemia-X-linked intellectual disability syndrome | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome | |
rs2071372283 | ga4gh:VA.bDH9xktn0DW-1j1q92ybYhk6DIyE6vE1 | ClinVar: 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 | |
rs2071372283 | ga4gh:VA.bDH9xktn0DW-1j1q92ybYhk6DIyE6vE1 | ClinVar: 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 | |
rs2148623651 | rs2148623651 | 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 | |
rs2148623651 | rs2148623651 | 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 | |
rs2148625435 | rs2148625435 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | not provided | |
rs2148625435 | rs2148625435 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ATRX | not provided | |
rs1057523785 | rs1057523785 | ClinVar: pathogenic (2★) — Alpha thalassemia-X-linked intellectual disability syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome|not provided | |
rs1057523785 | rs1057523785 | ClinVar: pathogenic (2★) — Alpha thalassemia-X-linked intellectual disability syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ATRX | Alpha thalassemia-X-linked intellectual disability syndrome|not provided | |
null | ga4gh:VA.dwN9R2bwEM5kAz4uLpg6DPoY133kGxzB | ClinVar: pathogenic (1★) — ATRX-related disorder | genotype: heterozygous (one copy) | null | cancer | ATRX | ATRX-related disorder | |
null | ga4gh:VA.dwN9R2bwEM5kAz4uLpg6DPoY133kGxzB | ClinVar: pathogenic (1★) — ATRX-related disorder | genotype: homozygous (two copies) | null | cancer | ATRX | ATRX-related disorder | |
rs2071439399 | rs2071439399 | 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 | |
rs2071439399 | rs2071439399 | 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 | |
rs2148637532 | rs2148637532 | 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 | |
rs2148637532 | rs2148637532 | 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 | |
null | ga4gh:VA.Xwmq_6WkxFKHEqQXRkpI5zFsO_Gzl88I | 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 | |
null | ga4gh:VA.Xwmq_6WkxFKHEqQXRkpI5zFsO_Gzl88I | 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 | |
null | ga4gh:VA.U-bEg5K1JpAG6FWkUf8uOTuEYUOD_Ikt | 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.U-bEg5K1JpAG6FWkUf8uOTuEYUOD_Ikt | 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 |
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