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 | 20:32433815:G:GC | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32433815:G:GC | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | ga4gh:VA.GtGHWtwEkIwX46C7cfJP1rw5nUdWLwiZ | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | ga4gh:VA.GtGHWtwEkIwX46C7cfJP1rw5nUdWLwiZ | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs376029425 | rs376029425 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs376029425 | rs376029425 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs1254271466 | rs1254271466 | ClinVar: pathogenic (2★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1254271466 | rs1254271466 | ClinVar: pathogenic (2★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | ga4gh:VA.lSMiyQPTaEKJIubx-QsISTK8SmAW9B-6 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
null | ga4gh:VA.lSMiyQPTaEKJIubx-QsISTK8SmAW9B-6 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs748946310 | rs748946310 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs748946310 | rs748946310 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1486082302 | rs1486082302 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs1486082302 | rs1486082302 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2145356541 | rs2145356541 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2145356541 | rs2145356541 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
null | 20:32434483:T:TA | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32434483:T:TA | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs371369583 | ga4gh:VA.4HRwkOf9A_aYPGfaqFaz4eHXsde0iPTa | ClinVar: pathogenic (2★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs371369583 | ga4gh:VA.4HRwkOf9A_aYPGfaqFaz4eHXsde0iPTa | ClinVar: pathogenic (2★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs371369583 | ga4gh:VA.OeVGsERAHsmdSUON_42655mL4FOo-vl3 | ClinVar: pathogenic (2★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs371369583 | ga4gh:VA.OeVGsERAHsmdSUON_42655mL4FOo-vl3 | ClinVar: pathogenic (2★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
null | 20:32434560:C:CTA | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
null | 20:32434560:C:CTA | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs111316898 | rs111316898 | ClinVar: pathogenic (2★) — Bohring-Opitz syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
rs111316898 | rs111316898 | ClinVar: pathogenic (2★) — Bohring-Opitz syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
rs2515552360 | rs2515552360 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2515552360 | rs2515552360 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs766433101 | rs766433101 | ClinVar: pathogenic (2★) — Cafe-au-lait spot|Juvenile myelomonocytic leukemia|Bohring-Opitz syndrome|not provided|Myelodysplastic syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Cafe-au-lait spot|Juvenile myelomonocytic leukemia|Bohring-Opitz syndrome|not provided|Myelodysplastic syndrome | |
rs766433101 | rs766433101 | ClinVar: pathogenic (2★) — Cafe-au-lait spot|Juvenile myelomonocytic leukemia|Bohring-Opitz syndrome|not provided|Myelodysplastic syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Cafe-au-lait spot|Juvenile myelomonocytic leukemia|Bohring-Opitz syndrome|not provided|Myelodysplastic syndrome | |
rs755053984 | rs755053984 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs755053984 | rs755053984 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs752984377 | rs752984377 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs752984377 | rs752984377 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2515553570 | rs2515553570 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2515553570 | rs2515553570 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
null | 20:32434637:GA:G | ClinVar: likely_pathogenic (2★) — Bohring-Opitz syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
null | 20:32434637:GA:G | ClinVar: likely_pathogenic (2★) — Bohring-Opitz syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
rs750318549 | rs750318549 | ClinVar: pathogenic (2★) — ASXL1-related disorder|Abnormal brain morphology|not provided|Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | ASXL1-related disorder|Abnormal brain morphology|not provided|Bohring-Opitz syndrome | |
rs750318549 | rs750318549 | ClinVar: pathogenic (2★) — ASXL1-related disorder|Abnormal brain morphology|not provided|Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | ASXL1-related disorder|Abnormal brain morphology|not provided|Bohring-Opitz syndrome | |
rs2145360404 | rs2145360404 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
rs2145360404 | rs2145360404 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
rs1600586587 | rs1600586587 | ClinVar: pathogenic (1★) — Myelodysplastic syndrome|Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Myelodysplastic syndrome|Bohring-Opitz syndrome | |
rs1600586587 | rs1600586587 | ClinVar: pathogenic (1★) — Myelodysplastic syndrome|Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Myelodysplastic syndrome|Bohring-Opitz syndrome | |
rs2515557358 | rs2515557358 | ClinVar: likely_pathogenic (1★) — Myelodysplastic syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Myelodysplastic syndrome | |
rs2515557358 | rs2515557358 | ClinVar: likely_pathogenic (1★) — Myelodysplastic syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Myelodysplastic syndrome | |
rs373221034 | rs373221034 | ClinVar: pathogenic (2★) — Myelodysplastic syndrome|not provided|Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Myelodysplastic syndrome|not provided|Bohring-Opitz syndrome | |
rs373221034 | rs373221034 | ClinVar: pathogenic (2★) — Myelodysplastic syndrome|not provided|Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Myelodysplastic syndrome|not provided|Bohring-Opitz syndrome | |
rs1261178797 | rs1261178797 | ClinVar: pathogenic (1★) — Myelodysplasia | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Myelodysplasia | |
rs1261178797 | rs1261178797 | ClinVar: pathogenic (1★) — Myelodysplasia | genotype: homozygous (two copies) | null | cancer | ASXL1 | Myelodysplasia | |
rs2145363966 | rs2145363966 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2145363966 | rs2145363966 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2145364074 | rs2145364074 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2145364074 | rs2145364074 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
null | 20:32434867:GA:G | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
null | 20:32434867:GA:G | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
null | 20:32434892:AG:A | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32434892:AG:A | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs387907078 | rs387907078 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs387907078 | rs387907078 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | ga4gh:VA.nSqRmrlp7j_QfGTm7TfQnWdQvugmzu0k | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | ga4gh:VA.nSqRmrlp7j_QfGTm7TfQnWdQvugmzu0k | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32434958:TC:T | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
null | 20:32434958:TC:T | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs1167715259 | rs1167715259 | ClinVar: pathogenic (1★) — ASXL1-related disorder | genotype: heterozygous (one copy) | null | cancer | ASXL1 | ASXL1-related disorder | |
rs1167715259 | rs1167715259 | ClinVar: pathogenic (1★) — ASXL1-related disorder | genotype: homozygous (two copies) | null | cancer | ASXL1 | ASXL1-related disorder | |
rs2515562198 | rs2515562198 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515562198 | rs2515562198 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs765327792 | rs765327792 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs765327792 | rs765327792 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs752263134 | rs752263134 | ClinVar: pathogenic (1★) — ASXL1-related disorder | genotype: heterozygous (one copy) | null | cancer | ASXL1 | ASXL1-related disorder | |
rs752263134 | rs752263134 | ClinVar: pathogenic (1★) — ASXL1-related disorder | genotype: homozygous (two copies) | null | cancer | ASXL1 | ASXL1-related disorder | |
rs751021760 | rs751021760 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs751021760 | rs751021760 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2515563035 | rs2515563035 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515563035 | rs2515563035 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32435121:AGGACCCACCGT:TG | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
null | 20:32435121:AGGACCCACCGT:TG | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs1600588239 | rs1600588239 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1600588239 | rs1600588239 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32435133:TC:T | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
null | 20:32435133:TC:T | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2515564525 | rs2515564525 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515564525 | rs2515564525 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515564558 | rs2515564558 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2515564558 | rs2515564558 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2515564652 | rs2515564652 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515564652 | rs2515564652 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1064796100 | rs1064796100 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs1064796100 | rs1064796100 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs750170870 | rs750170870 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs750170870 | rs750170870 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515566678 | rs2515566678 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515566678 | rs2515566678 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32435272:A:AC | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32435272:A:AC | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515567183 | rs2515567183 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2515567183 | rs2515567183 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs770209084 | rs770209084 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs770209084 | rs770209084 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome |
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