question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Gene mutation in ITGA2B (integrin subunit alpha 2b) at chromosome 17, position 44376087—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCC... | GAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCC... | pathogenic | 276,846 |
A mutation at chromosome position 44376116 on chromosome 17 in gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Glanzmann_thrombasthenia'] | GCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGC... | GCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGC... | pathogenic | 276,850 |
Gene ITGA2B (integrin subunit alpha 2b) variant at chromosome 17, position 44376142—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Glanzmann_thrombasthenia'] | TGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAG... | TGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAG... | pathogenic | 276,851 |
Is the chromosome 17, position 44376158 variant in ITGA2B (integrin subunit alpha 2b) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | TGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGA... | TGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGA... | pathogenic | 276,852 |
A genetic alteration at chromosome 17, position 44376317, in gene ITGA2B (integrin subunit alpha 2b)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glanzmann_thrombasthenia'] | CCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTT... | CCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTT... | pathogenic | 276,857 |
Mutation found at chromosome 17 position 44376324, gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | CTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTG... | CTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTG... | pathogenic | 276,860 |
The genetic variant at chromosome 17, position 44377710, affecting gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | TGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGT... | TGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGT... | pathogenic | 276,868 |
Benign or pathogenic: chromosome 17, position 44377715, gene ITGA2B (integrin subunit alpha 2b) variant? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | TGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGC... | TGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGC... | pathogenic | 276,870 |
Variant in ITGA2B (integrin subunit alpha 2b), chromosome 17, position 44377731—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glanzmann_thrombasthenia'] | GGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTG... | GGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTG... | pathogenic | 276,871 |
Variant in ITGA2B (integrin subunit alpha 2b), chromosome 17, position 44377736—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glanzmann_thrombasthenia', 'Macrothrombocytopenia'] | GGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGG... | GGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGG... | pathogenic | 276,873 |
Benign or pathogenic: chromosome 17, position 44378440, gene ITGA2B (integrin subunit alpha 2b) variant? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | GAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTC... | GAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTC... | pathogenic | 276,883 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 44378456, gene ITGA2B (integrin subunit alpha 2b): what disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | GAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCC... | GAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCC... | pathogenic | 276,884 |
Variant on chromosome 17, at position 44378482, affecting ITGA2B (integrin subunit alpha 2b): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Abnormal_platelet_aggregation', 'Glanzmann_thrombasthenia'] | CAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGT... | CAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGT... | pathogenic | 276,887 |
The chromosome 17, position 44378668 genetic variant in gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGA... | GATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGA... | pathogenic | 276,893 |
Is the genetic mutation found on chromosome 17 at position 44378675, within the gene ITGA2B (integrin subunit alpha 2b), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | TCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGG... | TCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGG... | pathogenic | 276,894 |
Does the variant on chromosome 17 at location 44378689 affecting gene ITGA2B (integrin subunit alpha 2b) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | CCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGG... | CCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGG... | pathogenic | 276,895 |
Located at chromosome 17 position 44379795, the variant affecting gene ITGA2B (integrin subunit alpha 2b)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glanzmann_thrombasthenia'] | GTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTA... | GTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTA... | pathogenic | 276,904 |
Chromosome 17, position 44380099, gene ITGA2B (integrin subunit alpha 2b): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | AATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATT... | AATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATT... | pathogenic | 276,909 |
Mutation at chromosome 17, position 44380135, within ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAG... | GAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAG... | pathogenic | 276,915 |
Variant in ITGA2B (integrin subunit alpha 2b), chromosome 17, position 44380145—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glanzmann_thrombasthenia'] | CTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCC... | CTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCC... | pathogenic | 276,918 |
Variant on chromosome 17, at position 44380245, affecting ITGA2B (integrin subunit alpha 2b): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | TGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGG... | TGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGG... | pathogenic | 276,921 |
Is the variant located on chromosome 17 at position 44380301, gene ITGA2B (integrin subunit alpha 2b), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glanzmann_thrombasthenia'] | TTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGG... | TTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGG... | pathogenic | 276,926 |
The mutation in gene ITGA2B (integrin subunit alpha 2b) at chromosome 17, position 44380396—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGG... | GGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGG... | pathogenic | 276,931 |
Benign or pathogenic: chromosome 17, position 44380469, gene ITGA2B (integrin subunit alpha 2b) variant? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | CTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAA... | CTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAA... | pathogenic | 276,932 |
Variant in gene ITGA2B (integrin subunit alpha 2b), located at chromosome 17 position 44380490: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1', 'ITGA2B-related_disorder'] | CCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTA... | CCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTA... | pathogenic | 276,933 |
Considering the variant on chromosome 17, location 44380611, involving gene ITGA2B (integrin subunit alpha 2b), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glanzmann_thrombasthenia'] | GGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAG... | GGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAG... | pathogenic | 276,935 |
Determine if the mutation at chromosome 17, position 44380900 in gene ITGA2B (integrin subunit alpha 2b) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | AGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGG... | AGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGG... | pathogenic | 276,943 |
Mutation at chromosome 17, position 44381039, within ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGG... | GCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGG... | pathogenic | 276,950 |
The mutation in gene ITGA2B (integrin subunit alpha 2b) at chromosome 17, position 44381041—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | TGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCA... | TGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCA... | pathogenic | 276,952 |
Gene ITGA2B (integrin subunit alpha 2b) variant at chromosome position 44383624 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glanzmann_thrombasthenia'] | CACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCT... | CACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCT... | pathogenic | 276,962 |
Clinical classification of chromosome 17, position 44383631, gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | GGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTC... | GGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTC... | pathogenic | 276,964 |
Variant at chromosome 17, position 44384112, gene ITGA2B (integrin subunit alpha 2b): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Glanzmann_thrombasthenia'] | TTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATT... | TTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATT... | pathogenic | 276,980 |
Variant at chromosome position 44384298, chromosome 17, gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | ATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAG... | ATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAG... | benign | 276,981 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 44384346, gene ITGA2B (integrin subunit alpha 2b): what disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | ATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGA... | ATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGA... | pathogenic | 276,986 |
A genetic variant on chromosome 17, position 44384552, affects the gene ITGA2B (integrin subunit alpha 2b). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glanzmann_thrombasthenia'] | CTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCT... | CTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCT... | pathogenic | 276,988 |
Determine if the mutation at chromosome 17, position 44385019 in gene ITGA2B (integrin subunit alpha 2b) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | CCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATT... | CCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATT... | pathogenic | 276,997 |
The mutation in gene ITGA2B (integrin subunit alpha 2b) at chromosome 17, position 44385053—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAA... | GGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAA... | pathogenic | 276,998 |
Does the chromosome 17 mutation at position 44385334 within gene ITGA2B (integrin subunit alpha 2b) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Glanzmann_thrombasthenia'] | TCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCT... | TCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCT... | pathogenic | 277,012 |
Is the chromosome 17, position 44385565 variant in ITGA2B (integrin subunit alpha 2b) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | CGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAG... | CGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAG... | pathogenic | 277,019 |
Is chromosome 17, position 44385585, gene ITGA2B (integrin subunit alpha 2b) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Glanzmann_thrombasthenia'] | GAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGG... | GAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGG... | pathogenic | 277,022 |
Does the variant impacting ITGA2B (integrin subunit alpha 2b) on chromosome 17, position 44385644, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glanzmann_thrombasthenia'] | GTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGA... | GTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGA... | pathogenic | 277,029 |
Gene mutation in ITGA2B (integrin subunit alpha 2b) at chromosome 17, position 44385662—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | CAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAA... | CAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAA... | pathogenic | 277,034 |
Evaluate if the mutation on chromosome 17 at position 44385705 in ITGA2B is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | GCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGC... | GCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGC... | pathogenic | 277,038 |
Determine whether the variant at chromosome 17, position 44386003, in gene ITGA2B (integrin subunit alpha 2b) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | TGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATA... | TGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATA... | pathogenic | 277,047 |
Considering the genetic mutation at chromosome 17, position 44386028, impacting ITGA2B (integrin subunit alpha 2b): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1', 'Platelet-type_bleeding_disorder_16'] | TGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTG... | TGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTG... | pathogenic | 277,049 |
Clinical classification of chromosome 17, position 44386074, gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | TATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGA... | TATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGA... | pathogenic | 277,052 |
Variant at chromosome position 44386078, chromosome 17, gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Glanzmann_thrombasthenia'] | CTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGAC... | CTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGAC... | pathogenic | 277,053 |
A genetic variant on chromosome 17, position 44386095, affects the gene ITGA2B (integrin subunit alpha 2b). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glanzmann_thrombasthenia', 'ITGA2B-related_disorder'] | CCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGG... | CCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGG... | pathogenic | 277,054 |
Does the genetic variant at chromosome 17, position 44389298, impacting gene ITGA2B (integrin subunit alpha 2b), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | TGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGT... | TGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGT... | pathogenic | 277,061 |
Benign or pathogenic: chromosome 17, position 44389335, gene ITGA2B (integrin subunit alpha 2b) variant? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | CCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCA... | CCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCA... | pathogenic | 277,062 |
Regarding the variant at chromosome 17 and position 44389360, affecting gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glanzmann_thrombasthenia'] | CAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCAC... | CAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCAC... | pathogenic | 277,064 |
The mutation in gene ITGA2B (integrin subunit alpha 2b) at chromosome 17, position 44389382—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | CCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCT... | CCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCT... | pathogenic | 277,066 |
Does the variant impacting FZD2 (frizzled class receptor 2) on chromosome 17, position 44557720, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAAGGCAAATTCCCCAGGATGTAATAAGGAACATTTTCAAGTTGTAAGAAACCGGAACATCTTTATATCATTCATTCGATCAGGAAAAAAAAATTTTTTTTTGAATCCTGTCAAACCTGGATCCCTTTGTATCCATCTACTTAGAATATTTTTTCCTTCTCCCTACTCCTTTCCTCTTTTTGTTATTTTTCTTCTTCTGCTGTTGTTGTTTAAAACAATTCTTTTCTATATTGGAGCAAGAAACATTTCACCAGACTGTGAGGATTTGGCCCATACTGTGAAGCAAAGGGGCTTTCTAAACTCAATTTTCTTTCTTCTTT... | AAAGGCAAATTCCCCAGGATGTAATAAGGAACATTTTCAAGTTGTAAGAAACCGGAACATCTTTATATCATTCATTCGATCAGGAAAAAAAAATTTTTTTTTGAATCCTGTCAAACCTGGATCCCTTTGTATCCATCTACTTAGAATATTTTTTCCTTCTCCCTACTCCTTTCCTCTTTTTGTTATTTTTCTTCTTCTGCTGTTGTTGTTTAAAACAATTCTTTTCTATATTGGAGCAAGAAACATTTCACCAGACTGTGAGGATTTGGCCCATACTGTGAAGCAAAGGGGCTTTCTAAACTCAATTTTCTTTCTTCTTT... | benign | 277,073 |
Considering the variant on chromosome 17, location 44852422, involving gene EFTUD2 (elongation factor Tu GTP binding domain containing 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Mandibulofacial_dysostosis-microcephaly_syndrome'] | CACAGGATGCTGGAGAGAAGTAGGACTCCTATAGGAGCCGGGGCTGTCCAACTCCCCTAACTCAATCCCTGGTACATTCCTAATAAAGCAGTTTTGAGGAAAATCAACAGACTCTTTTTCACTGGGGGAGAACAGAGTAAGGGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCA... | CACAGGATGCTGGAGAGAAGTAGGACTCCTATAGGAGCCGGGGCTGTCCAACTCCCCTAACTCAATCCCTGGTACATTCCTAATAAAGCAGTTTTGAGGAAAATCAACAGACTCTTTTTCACTGGGGGAGAACAGAGTAAGGGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCA... | pathogenic | 277,089 |
Mutation at chromosome 17, position 44852562, within EFTUD2 (elongation factor Tu GTP binding domain containing 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Mandibulofacial_dysostosis-microcephaly_syndrome'] | GGGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCT... | GGGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCT... | pathogenic | 277,093 |
Evaluate this variant at chromosome 17, position 44852563, gene EFTUD2 (elongation factor Tu GTP binding domain containing 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Mandibulofacial_dysostosis-microcephaly_syndrome'] | GGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCTT... | GGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCTT... | pathogenic | 277,094 |
Regarding the variant at chromosome 17 and position 44862898, affecting gene EFTUD2 (elongation factor Tu GTP binding domain containing 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Mandibulofacial_dysostosis', 'Mandibulofacial_dysostosis-microcephaly_syndrome'] | CAGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACATCCAGCCTATTCCACAAAAATTTACTGAGTACTTGCTGCGTGCCAAGAGCAGGGGTGAGCAAAACAGATACATTCTAGCAGGGGAGAGATACAGTAAACAATCATTATCCACACATGTATGTGGTTACAAACTGATGGGCATTATGAAAGAAAAGTACAAGGTATTTCTGTGAGGACATAAGAGGAAAATCTTATTCCAATTGCAGGCTCATGGTAAAAAGCTGCCCAAGGTGTCGACTGTAAGGGGCTAGCAAAAGCATCAAAGAAGGCCGGGTGTG... | CAGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACATCCAGCCTATTCCACAAAAATTTACTGAGTACTTGCTGCGTGCCAAGAGCAGGGGTGAGCAAAACAGATACATTCTAGCAGGGGAGAGATACAGTAAACAATCATTATCCACACATGTATGTGGTTACAAACTGATGGGCATTATGAAAGAAAAGTACAAGGTATTTCTGTGAGGACATAAGAGGAAAATCTTATTCCAATTGCAGGCTCATGGTAAAAAGCTGCCCAAGGTGTCGACTGTAAGGGGCTAGCAAAAGCATCAAAGAAGGCCGGGTGTG... | pathogenic | 277,129 |
Determine if the mutation at chromosome 17, position 44863769 in gene EFTUD2 (elongation factor Tu GTP binding domain containing 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Mandibulofacial_dysostosis-microcephaly_syndrome'] | GAGACTCCATCTCAAAAAAAAAAGCATCACAGAAAACTTCCACTTTCCCAGCTCTTCAATATTCCACCTTTTGGCATTTAGGGTGGATTTAACAAAAGGGACCACCATTGAGGCAGGGTAGCCACCTTAGGGAACACGAATGCTTTGGTTTAACTTGTCAACTGGGAAACCAAATTCATAAACTGACAAGTAGCCCAGAGGCCCAAGCTAAGTTTGACTGCAGATTGGGATGCTACAAGGGATCCAGCGAAGCCTTCTCTCTTGGTCAAAGAGTAGACAGTGGAGTTGGGGAACAATTTCTTTTGGGAAGAAACACAAAG... | GAGACTCCATCTCAAAAAAAAAAGCATCACAGAAAACTTCCACTTTCCCAGCTCTTCAATATTCCACCTTTTGGCATTTAGGGTGGATTTAACAAAAGGGACCACCATTGAGGCAGGGTAGCCACCTTAGGGAACACGAATGCTTTGGTTTAACTTGTCAACTGGGAAACCAAATTCATAAACTGACAAGTAGCCCAGAGGCCCAAGCTAAGTTTGACTGCAGATTGGGATGCTACAAGGGATCCAGCGAAGCCTTCTCTCTTGGTCAAAGAGTAGACAGTGGAGTTGGGGAACAATTTCTTTTGGGAAGAAACACAAAG... | pathogenic | 277,138 |
For chromosome 17, position 44865077, gene EFTUD2 (elongation factor Tu GTP binding domain containing 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TCTCATCTCCAAACCATGTTCTACCCCATCCCTCTGAGAAGGATGAATAGGAGACATGGCAGAGCAAAAATATTCTCCTCTTTTTTTTTTTTTGGGAGGATAAGGGCATTGAGGAAGAGACACAGATTTAAGATAGCAGAGAGGCACTATTGGCAAGATTACTTACTGTCCCAAATTTCCTCTTAAGATGTAACTCAATTCTCAACTGGCTGTGTATTTATGATAAGAAACTAGACAGCCTAAGAAATGGCTGGGAAAGATGTTTTTAAAAGCCAGGACTGACAAGATTAGCTACCATTTGTTGAATCTTTAGTATCTGC... | TCTCATCTCCAAACCATGTTCTACCCCATCCCTCTGAGAAGGATGAATAGGAGACATGGCAGAGCAAAAATATTCTCCTCTTTTTTTTTTTTTGGGAGGATAAGGGCATTGAGGAAGAGACACAGATTTAAGATAGCAGAGAGGCACTATTGGCAAGATTACTTACTGTCCCAAATTTCCTCTTAAGATGTAACTCAATTCTCAACTGGCTGTGTATTTATGATAAGAAACTAGACAGCCTAAGAAATGGCTGGGAAAGATGTTTTTAAAAGCCAGGACTGACAAGATTAGCTACCATTTGTTGAATCTTTAGTATCTGC... | benign | 277,142 |
Is chromosome 17, position 44868279, gene EFTUD2 (elongation factor Tu GTP binding domain containing 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | ATACGAACATGCTTTGTTTTGTTTTTTTCTGAGACAGGGTCTCACTCCATCACTCAGGCTGGAATGCAGTGGTGTGTGATCATGGATCACTGCAGCTTTGACCACCAGGGTTCAAGCAATCCTCTGGCCTCAGCCTCCTGAGTAGCTGGGACCACAAGTGCACACCACCAGTCCCAGTTGATTTATTTTATTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCTGCCTCAAGAGTAGCTGGGATTACAAGCATGAGCCACCACGCCTGGCTAATTTTT... | ATACGAACATGCTTTGTTTTGTTTTTTTCTGAGACAGGGTCTCACTCCATCACTCAGGCTGGAATGCAGTGGTGTGTGATCATGGATCACTGCAGCTTTGACCACCAGGGTTCAAGCAATCCTCTGGCCTCAGCCTCCTGAGTAGCTGGGACCACAAGTGCACACCACCAGTCCCAGTTGATTTATTTTATTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCTGCCTCAAGAGTAGCTGGGATTACAAGCATGAGCCACCACGCCTGGCTAATTTTT... | benign | 277,151 |
Gene EFTUD2 (elongation factor Tu GTP binding domain containing 2) variant at chromosome position 44876035 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mandibulofacial_dysostosis-microcephaly_syndrome'] | GCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGATCTCACTCTGTCACCCACATTGGAGTACAACAGCACAATCATAGCTCACTATAACCCTGAACTCCTTGGCTCAAGTGATCCTCTTGCCTCTGCCTCCCGAGTAGCTAAGACTACAAACACATGCCAGCACGCCAAGCTAATTTCAAAATTATTTTTTGTAGACACAGAGTCTAGCTATGTTGCCCAGGCTGGCCTTGAACTCCTAGCCCCAAGGGATCCTCCTGCCTTGACCTCTCAA... | GCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGATCTCACTCTGTCACCCACATTGGAGTACAACAGCACAATCATAGCTCACTATAACCCTGAACTCCTTGGCTCAAGTGATCCTCTTGCCTCTGCCTCCCGAGTAGCTAAGACTACAAACACATGCCAGCACGCCAAGCTAATTTCAAAATTATTTTTTGTAGACACAGAGTCTAGCTATGTTGCCCAGGCTGGCCTTGAACTCCTAGCCCCAAGGGATCCTCCTGCCTTGACCTCTCAA... | pathogenic | 277,165 |
Gene mutation in EFTUD2 (elongation factor Tu GTP binding domain containing 2) at chromosome 17, position 44885341—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AAATAATTAACACTGAAGCCACAGGATTATTTTCAAATAAAAGATGAAATCTTTCTTAGACAGGCATCCCTCAGGAAATGAAAACTTATAAAAATCAGAGTAAGGCTCAATTTCCCATCTTCTGTCCAGATGTAGACATAAGGCTCAGGCATGCAAGTGGCTTAGGAACAGGCTCCACCTGCTGCTTGGGAAAAGCCAGAATTTCACAGTATGACTTCGTAACAGGCATGCAGCACCCCTAGTCAGGAGGTTGAGCCTTGTGACCTCAAACCTCAACCGCTGTGACTCTAAGGGCTAAAACATGAGCAGGTACAAAAGAG... | AAATAATTAACACTGAAGCCACAGGATTATTTTCAAATAAAAGATGAAATCTTTCTTAGACAGGCATCCCTCAGGAAATGAAAACTTATAAAAATCAGAGTAAGGCTCAATTTCCCATCTTCTGTCCAGATGTAGACATAAGGCTCAGGCATGCAAGTGGCTTAGGAACAGGCTCCACCTGCTGCTTGGGAAAAGCCAGAATTTCACAGTATGACTTCGTAACAGGCATGCAGCACCCCTAGTCAGGAGGTTGAGCCTTGTGACCTCAAACCTCAACCGCTGTGACTCTAAGGGCTAAAACATGAGCAGGTACAAAAGAG... | benign | 277,181 |
Variant chromosome 17, position 44901648, gene DNAAF19 (dynein axonemal assembly factor 19): benign or pathogenic? Disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia_17'] | CTCCAAAGAGGGTGAGAGCTGAGGATGAACGAATCTGATCAGGCGCCTCGGGACCACCCTGAAAATGGGGGGAGGGGCCTTCGGGCAGATCACGTGGTCAGGCTGTTAGCGCAGTTGCTAGGCAACCACAGCTGCGGGCGTGGTCTGCGCGGGGTTGCCCTCCTGTTCTGGTTTATCAGGGGATCCCCAAAGAAAGCAAGGGGACCAAGGCCGGGACTGCTGGGGTGAAGGTCCGGGAGGCTGAGTAAGGGGACGGAAGGGTTAGTTCTATGTATTAAATGCCTGGGGAGGGCTGAGAACTGGACACCTGATTTCGGTTA... | CTCCAAAGAGGGTGAGAGCTGAGGATGAACGAATCTGATCAGGCGCCTCGGGACCACCCTGAAAATGGGGGGAGGGGCCTTCGGGCAGATCACGTGGTCAGGCTGTTAGCGCAGTTGCTAGGCAACCACAGCTGCGGGCGTGGTCTGCGCGGGGTTGCCCTCCTGTTCTGGTTTATCAGGGGATCCCCAAAGAAAGCAAGGGGACCAAGGCCGGGACTGCTGGGGTGAAGGTCCGGGAGGCTGAGTAAGGGGACGGAAGGGTTAGTTCTATGTATTAAATGCCTGGGGAGGGCTGAGAACTGGACACCTGATTTCGGTTA... | pathogenic | 277,198 |
Considering the variant on chromosome 17, location 44902371, involving gene DNAAF19 (dynein axonemal assembly factor 19), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Primary_ciliary_dyskinesia'] | ATCAGTCAGCCTCAGATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATG... | ATCAGTCAGCCTCAGATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATG... | pathogenic | 277,203 |
Gene DNAAF19 (dynein axonemal assembly factor 19) variant at chromosome 17, position 44902645—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Absent_inner_and_outer_dynein_arms', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_17', 'Situs_inversus'] | GTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGG... | GTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGG... | pathogenic | 277,210 |
A genetic alteration at chromosome 17, position 44902645, in gene DNAAF19 (dynein axonemal assembly factor 19)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_17'] | GTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGG... | GTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGG... | pathogenic | 277,211 |
Regarding the variant found on chromosome 17 at position 44910155 in gene GFAP (glial fibrillary acidic protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCAC... | TTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCAC... | benign | 277,233 |
Located at chromosome 17 position 44914095, the variant affecting gene GFAP (glial fibrillary acidic protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCG... | GCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCG... | benign | 277,263 |
Classify the chromosome 17 variant at position 46024409 affecting gene MAPT (microtubule associated protein tau) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTG... | AAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTG... | benign | 277,434 |
Determine whether the variant at chromosome 17, position 46031438, in gene KANSL1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AGTCTGGACAATCGAGCAAGATCCCATCTCAAACAATAAAAAAAAAAAGCGTGTAACCTCCTCAGAAGAAAGATGTTATAATCTCAGGCAGCAGGCAAGAACCAATCCAGGCTCTAAGCAAATTATGTATCTCACTGACCCCACCAAACCTCAGAAAAATTTAACAGTGAGAAGCAAAATCTCCTTTAAAGAGCAACTTAGAACAGATAGAAAATATCATACAGCTGACTTCACTAGAGAGAAAGTGCATCAACTGCTTTCACTCAACAAAAAGAAAAAAGAGATGATCAATGCAGATCCCCTCTCCTCCTGGCAGCCCT... | AGTCTGGACAATCGAGCAAGATCCCATCTCAAACAATAAAAAAAAAAAGCGTGTAACCTCCTCAGAAGAAAGATGTTATAATCTCAGGCAGCAGGCAAGAACCAATCCAGGCTCTAAGCAAATTATGTATCTCACTGACCCCACCAAACCTCAGAAAAATTTAACAGTGAGAAGCAAAATCTCCTTTAAAGAGCAACTTAGAACAGATAGAAAATATCATACAGCTGACTTCACTAGAGAGAAAGTGCATCAACTGCTTTCACTCAACAAAAAGAAAAAAGAGATGATCAATGCAGATCCCCTCTCCTCCTGGCAGCCCT... | benign | 277,456 |
Variant in gene KANSL1 (KAT8 regulatory NSL complex subunit 1), located at chromosome 17 position 46032197: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Koolen-de_Vries_syndrome'] | TTTTTTTTTCAATGCTAAAAGGGTTATTCAGAATTTTCAACCTTATAAATAGAAGAAGCACTTTATGCATAGGGATATGGTGCATTATTGTATTTTTTTTTAAAGAAACAATGACAAACCCTTTAACTTGCAAACAGAAAAAAAAATCACTAATGTTGAAAATTGTGAAAAAACCCCAACCATTAAGCAGTTGTCTACTATTTTTATACGATTACAAAATGGCCAAAAAAAAAGAGTCTTCTCCCCCCTCCCCCTTTTTGGTGATGTGATCATACAGGAGACAGGCACAAGGTTAACAGAGAAGGGTGAAGGGGGAACAA... | TTTTTTTTTCAATGCTAAAAGGGTTATTCAGAATTTTCAACCTTATAAATAGAAGAAGCACTTTATGCATAGGGATATGGTGCATTATTGTATTTTTTTTTAAAGAAACAATGACAAACCCTTTAACTTGCAAACAGAAAAAAAAATCACTAATGTTGAAAATTGTGAAAAAACCCCAACCATTAAGCAGTTGTCTACTATTTTTATACGATTACAAAATGGCCAAAAAAAAAGAGTCTTCTCCCCCCTCCCCCTTTTTGGTGATGTGATCATACAGGAGACAGGCACAAGGTTAACAGAGAAGGGTGAAGGGGGAACAA... | pathogenic | 277,479 |
Variant on chromosome 17, at position 46033095, affecting KANSL1 (KAT8 regulatory NSL complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['KANSL1-related_disorder', 'Koolen-de_Vries_syndrome'] | GGGAGGGGGTAAGAGTCCAGAGCACCCTGCCCCATTCCACCCTAGCTCAAGAAGGCCATGCTAAACTGTAGCCCGCCAGGCTGTTCTGCCCTGCCCACAGGTGTGAGGGAGGGGGTGGTCATCTAAGATCAGTAAGTCCAGTGATTCAACAGTGCAGAGGATGTGCCAGGACCAGGCCAGCAGGGTCTCATCCTGAACTTCTGTTTGCCAACGGGAGGAAGTGCTCAGGTGTGTGACAAGAAAACATGGAAACAAAAACAAAACAAAAATTAAAACAAGAAAAAAAAATACCAAAGTAGGATCTAAATTCCTTAAGTTCA... | GGGAGGGGGTAAGAGTCCAGAGCACCCTGCCCCATTCCACCCTAGCTCAAGAAGGCCATGCTAAACTGTAGCCCGCCAGGCTGTTCTGCCCTGCCCACAGGTGTGAGGGAGGGGGTGGTCATCTAAGATCAGTAAGTCCAGTGATTCAACAGTGCAGAGGATGTGCCAGGACCAGGCCAGCAGGGTCTCATCCTGAACTTCTGTTTGCCAACGGGAGGAAGTGCTCAGGTGTGTGACAAGAAAACATGGAAACAAAAACAAAACAAAAATTAAAACAAGAAAAAAAAATACCAAAGTAGGATCTAAATTCCTTAAGTTCA... | pathogenic | 277,488 |
Does the variant on chromosome 17 at location 46033411 affecting gene KANSL1 (KAT8 regulatory NSL complex subunit 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TTCACTAAAAACTGTGAAAATTTCCGGCATATGATGTTTGAATATCAAACGCAGAGATTTCTGAAGCTTTAATGCCAATAGTTAGTGAGTCTGTTTAGATGGCTGTCTCCCGCTCATCTGTGAGTCGGGCGCTGAGCTGTGGCTGCTGCCACCAGATGCCGACTCTTGAGGGGGACAATGGGAGGCGAGGTGGGCGCTGCCTCTGTCTCCCGGCCAGTCTTGCTGCCTGAGGTGCGTCGAGTGCAGCGGGCTGCTCGCTCCTGTGCATCCAGCTGGTCCTCACACTCCGCCTGGGGACTGTGCGCCAGGGGGAAGGTCCG... | TTCACTAAAAACTGTGAAAATTTCCGGCATATGATGTTTGAATATCAAACGCAGAGATTTCTGAAGCTTTAATGCCAATAGTTAGTGAGTCTGTTTAGATGGCTGTCTCCCGCTCATCTGTGAGTCGGGCGCTGAGCTGTGGCTGCTGCCACCAGATGCCGACTCTTGAGGGGGACAATGGGAGGCGAGGTGGGCGCTGCCTCTGTCTCCCGGCCAGTCTTGCTGCCTGAGGTGCGTCGAGTGCAGCGGGCTGCTCGCTCCTGTGCATCCAGCTGGTCCTCACACTCCGCCTGGGGACTGTGCGCCAGGGGGAAGGTCCG... | benign | 277,496 |
Gene KANSL1 (KAT8 regulatory NSL complex subunit 1) variant at chromosome position 46171364 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Koolen-de_Vries_syndrome'] | GCACAGTGAACTAACAAATGATAATAGAACTAGGTCTACAAGGAAGAAATTCAGCAAAAATTATCCATTTCTTCCTTCAAAATAGAAAAAAAAAGTTTCATTTCAGATACAATATCCATGCAGATAATATAAACAAAATTGGGAAACCAGAAAATTTACTTTTAAAAATCATAGCTGTCTCAACAACCAAACACTCCAGTGAAAATCTTCATCACCTTTTAATACAGTCAAGGAAACACCAATTCTTCCCACATATTCATCTTTTTCAGCCTTCTCTAGTAAGCCAGCCTCTAGCAAAGAGAAAATGAAAGATCTGCTAG... | GCACAGTGAACTAACAAATGATAATAGAACTAGGTCTACAAGGAAGAAATTCAGCAAAAATTATCCATTTCTTCCTTCAAAATAGAAAAAAAAAGTTTCATTTCAGATACAATATCCATGCAGATAATATAAACAAAATTGGGAAACCAGAAAATTTACTTTTAAAAATCATAGCTGTCTCAACAACCAAACACTCCAGTGAAAATCTTCATCACCTTTTAATACAGTCAAGGAAACACCAATTCTTCCCACATATTCATCTTTTTCAGCCTTCTCTAGTAAGCCAGCCTCTAGCAAAGAGAAAATGAAAGATCTGCTAG... | pathogenic | 277,602 |
Determine if the mutation at chromosome 17, position 46171370 in gene KANSL1 (KAT8 regulatory NSL complex subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TGAACTAACAAATGATAATAGAACTAGGTCTACAAGGAAGAAATTCAGCAAAAATTATCCATTTCTTCCTTCAAAATAGAAAAAAAAAGTTTCATTTCAGATACAATATCCATGCAGATAATATAAACAAAATTGGGAAACCAGAAAATTTACTTTTAAAAATCATAGCTGTCTCAACAACCAAACACTCCAGTGAAAATCTTCATCACCTTTTAATACAGTCAAGGAAACACCAATTCTTCCCACATATTCATCTTTTTCAGCCTTCTCTAGTAAGCCAGCCTCTAGCAAAGAGAAAATGAAAGATCTGCTAGTCAATT... | TGAACTAACAAATGATAATAGAACTAGGTCTACAAGGAAGAAATTCAGCAAAAATTATCCATTTCTTCCTTCAAAATAGAAAAAAAAAGTTTCATTTCAGATACAATATCCATGCAGATAATATAAACAAAATTGGGAAACCAGAAAATTTACTTTTAAAAATCATAGCTGTCTCAACAACCAAACACTCCAGTGAAAATCTTCATCACCTTTTAATACAGTCAAGGAAACACCAATTCTTCCCACATATTCATCTTTTTCAGCCTTCTCTAGTAAGCCAGCCTCTAGCAAAGAGAAAATGAAAGATCTGCTAGTCAATT... | benign | 277,603 |
Variant in KANSL1 (KAT8 regulatory NSL complex subunit 1), chromosome 17, position 46171532—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Koolen-de_Vries_syndrome'] | TCATAGCTGTCTCAACAACCAAACACTCCAGTGAAAATCTTCATCACCTTTTAATACAGTCAAGGAAACACCAATTCTTCCCACATATTCATCTTTTTCAGCCTTCTCTAGTAAGCCAGCCTCTAGCAAAGAGAAAATGAAAGATCTGCTAGTCAATTATCCTGCCCCTCTTTTCCAACTCCTCATGCTCTCTCTCAAATCTGATATTCCTAAGGAGATAAATGCACTTATTTAACATGTATCTTTAAGTATGTTATAATATAGTACTGCTTTATTTAATTAAGTACATAGATGCTGAATTGGGAGTGACAGGAATGAAA... | TCATAGCTGTCTCAACAACCAAACACTCCAGTGAAAATCTTCATCACCTTTTAATACAGTCAAGGAAACACCAATTCTTCCCACATATTCATCTTTTTCAGCCTTCTCTAGTAAGCCAGCCTCTAGCAAAGAGAAAATGAAAGATCTGCTAGTCAATTATCCTGCCCCTCTTTTCCAACTCCTCATGCTCTCTCTCAAATCTGATATTCCTAAGGAGATAAATGCACTTATTTAACATGTATCTTTAAGTATGTTATAATATAGTACTGCTTTATTTAATTAAGTACATAGATGCTGAATTGGGAGTGACAGGAATGAAA... | pathogenic | 277,622 |
A mutation at chromosome position 46192787 on chromosome 17 in gene KANSL1 (KAT8 regulatory NSL complex subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CAAATACACCAAATATGCTAAAGGTCGAAGGAACGGCACACTTTGTTGCATAAACCTAGTGGAAATCCAATTCAGAATTTCATGACTGAAGGTAGTTATTCCACATTTATAATACATTTTTTAAATTCCCAAGGGATGAGCATTTTTACCTTGCCTTATTTTTAGAACTACACATCACACTGCACATATCACATGACATGATGTAACTGTTAGCAAAGAAAATGGTCCAAACCATTGACAATGTACATGGTAAATCAGGATCAATGCATACTCAAGAACCACATTTCGTATTTACTTTAAAAAAAAAGTTTCTTAATTCA... | CAAATACACCAAATATGCTAAAGGTCGAAGGAACGGCACACTTTGTTGCATAAACCTAGTGGAAATCCAATTCAGAATTTCATGACTGAAGGTAGTTATTCCACATTTATAATACATTTTTTAAATTCCCAAGGGATGAGCATTTTTACCTTGCCTTATTTTTAGAACTACACATCACACTGCACATATCACATGACATGATGTAACTGTTAGCAAAGAAAATGGTCCAAACCATTGACAATGTACATGGTAAATCAGGATCAATGCATACTCAAGAACCACATTTCGTATTTACTTTAAAAAAAAAGTTTCTTAATTCA... | benign | 277,652 |
Evaluate the clinical significance of the mutation at chromosome 17, position 46773649 in gene WNT3: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CGCGCGGTGTCACACCGCATTACCCGCATAATGCGGCCGCCGGGCCCGGGCCGCCGGGCCGGCCGCCACCGCGTAGCAACGGGCGGCTCCCGCGGCCGGGCCGCGCCCCCGGCCCCGGCGCCGGGCCGCGAAATCCCCATTGAAGCGGCGCCCCCCGCCCCCGCGCCGCGCCGCGCCGCGCCGCGCCGAATGGCCAGAGGGCGTGTGAATGGCGCGGCGGCCGCGCGGTGGGGGGGCGGTGCTCGGGCGCTTTTCAGGCCGCCCAGGCCCCTCCGGCGCCCGCCCCCGCCCCTGCCCCCGCCCCCGCCTGGGGAAGCGCC... | CGCGCGGTGTCACACCGCATTACCCGCATAATGCGGCCGCCGGGCCCGGGCCGCCGGGCCGGCCGCCACCGCGTAGCAACGGGCGGCTCCCGCGGCCGGGCCGCGCCCCCGGCCCCGGCGCCGGGCCGCGAAATCCCCATTGAAGCGGCGCCCCCCGCCCCCGCGCCGCGCCGCGCCGCGCCGCGCCGAATGGCCAGAGGGCGTGTGAATGGCGCGGCGGCCGCGCGGTGGGGGGGCGGTGCTCGGGCGCTTTTCAGGCCGCCCAGGCCCCTCCGGCGCCCGCCCCCGCCCCTGCCCCCGCCCCCGCCTGGGGAAGCGCC... | benign | 277,667 |
Is the chromosome 17, position 46923211 variant in GOSR2 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['GOSR2-related_disorder', 'Inborn_genetic_diseases', 'Muscular_dystrophy', 'Progressive_myoclonic_epilepsy'] | CAAGGATGGAAGAGGCCCTTGGGCCTGACAACACGCATACGGTTAAGGCATTACCACCTACTTCGTGGGATCTAACCATCGTTTTTGAAATGGTGCTGGGAAAACTAGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGACTTACATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGACAACGAAAGCCAAAATTGACAAATG... | CAAGGATGGAAGAGGCCCTTGGGCCTGACAACACGCATACGGTTAAGGCATTACCACCTACTTCGTGGGATCTAACCATCGTTTTTGAAATGGTGCTGGGAAAACTAGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGACTTACATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGACAACGAAAGCCAAAATTGACAAATG... | pathogenic | 277,688 |
Is the genetic mutation found on chromosome 17 at position 46929597, within the gene GOSR2, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCTTGAGTTTATTTTTATGTGTTACCTGAGGTGGCCTTTTTCTGTACGGGTAACAAACCGGAGCTGTTGGCATTTATTGTAGTCCCTTCTTTCAAAAGCTCCCAAATAACGTGGGGCTGTGTCTAGGCTGTTTCTTTCCTCTTGGGCCAGCTGTAGGGTTTGCCTTTCCTTGTCTGTCTGCACCTGCACTGCCGCCATATTGTTTCCATTGTTACTGCTTTGTAAGTCATAATGGCAGGTGGGACAAGTCATTCCTCCCCCTCCTTCTTCAGAGTGGTCTTGGCTATTCTTTACCTCCCCCCTTTTTATTATGTCACTGT... | GCTTGAGTTTATTTTTATGTGTTACCTGAGGTGGCCTTTTTCTGTACGGGTAACAAACCGGAGCTGTTGGCATTTATTGTAGTCCCTTCTTTCAAAAGCTCCCAAATAACGTGGGGCTGTGTCTAGGCTGTTTCTTTCCTCTTGGGCCAGCTGTAGGGTTTGCCTTTCCTTGTCTGTCTGCACCTGCACTGCCGCCATATTGTTTCCATTGTTACTGCTTTGTAAGTCATAATGGCAGGTGGGACAAGTCATTCCTCCCCCTCCTTCTTCAGAGTGGTCTTGGCTATTCTTTACCTCCCCCCTTTTTATTATGTCACTGT... | benign | 277,696 |
Does the chromosome 17 mutation at position 46939046 within gene GOSR2 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTAGATGCCATGCATATAAGTTGCAGTGGGTGATATGTGCTGAGTGACTTGGGGTCTGCCCCGGCATTCACTTATACTTGTTTCTTACTAAGAAATTGAATGTGCTTTAAGCTGAAAATTAGAAAGCAGTAGGGAAGGACAGGCTGGATGGTTTGGGTTGTTGGTTTAGGAATAAAATGCCCTTTTGTTTTGGTGGTGGGTGATGCCATCTATAGAAGGGTTTTAGGTCATTGTGTTGGTGTCTTTCCGTCTTTCCCACTTGAGACCCTCTTGTAAATATGGACTTGACCCACCCATTGTACTCAGAAGAAACCTCAAAG... | TTAGATGCCATGCATATAAGTTGCAGTGGGTGATATGTGCTGAGTGACTTGGGGTCTGCCCCGGCATTCACTTATACTTGTTTCTTACTAAGAAATTGAATGTGCTTTAAGCTGAAAATTAGAAAGCAGTAGGGAAGGACAGGCTGGATGGTTTGGGTTGTTGGTTTAGGAATAAAATGCCCTTTTGTTTTGGTGGTGGGTGATGCCATCTATAGAAGGGTTTTAGGTCATTGTGTTGGTGTCTTTCCGTCTTTCCCACTTGAGACCCTCTTGTAAATATGGACTTGACCCACCCATTGTACTCAGAAGAAACCTCAAAG... | benign | 277,717 |
Is the variant located on chromosome 17 at position 47253911, gene ITGB3 (integrin subunit beta 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glanzmann_thrombasthenia'] | ATAATGTTATTTTTAGTTTACAGGTTCTTACAATTTACATAGAATTGTTCAATATTAATTCAACATAGGCTACTGTATGATAAGTTAAGGAGGAATATTGTAATACCTAGAGCAAACACACACACACACACACACACACACACACACACATGCAAACGAGGTGTAGCTAGGAAGCCAGTAGAGAAAAAAAAATTATCCCAAAAGAAAGCAGAAAAAGAGAAACAGAGAAACCAGCCAAAAAGATAGAACGAATAACAAGATAGTAAATGTAAACACAACCATCAATTACTATACTAAATGTGAATGGACTAGCTCCTTTG... | ATAATGTTATTTTTAGTTTACAGGTTCTTACAATTTACATAGAATTGTTCAATATTAATTCAACATAGGCTACTGTATGATAAGTTAAGGAGGAATATTGTAATACCTAGAGCAAACACACACACACACACACACACACACACACACACATGCAAACGAGGTGTAGCTAGGAAGCCAGTAGAGAAAAAAAAATTATCCCAAAAGAAAGCAGAAAAAGAGAAACAGAGAAACCAGCCAAAAAGATAGAACGAATAACAAGATAGTAAATGTAAACACAACCATCAATTACTATACTAAATGTGAATGGACTAGCTCCTTTG... | pathogenic | 277,749 |
Variant in ITGB3 (integrin subunit beta 3), chromosome 17, position 47274429—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glanzmann_thrombasthenia_2'] | TTGTTCTCATCAAGAATTATTTCCCTTTTTTTTGAGACAGAGTCTCGCACTATTGCCCAGGGTTGGAGTGTAATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCC... | TTGTTCTCATCAAGAATTATTTCCCTTTTTTTTGAGACAGAGTCTCGCACTATTGCCCAGGGTTGGAGTGTAATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCC... | pathogenic | 277,758 |
Determine if the mutation at chromosome 17, position 47274460 in gene ITGB3 (integrin subunit beta 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | TTGAGACAGAGTCTCGCACTATTGCCCAGGGTTGGAGTGTAATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTC... | TTGAGACAGAGTCTCGCACTATTGCCCAGGGTTGGAGTGTAATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTC... | pathogenic | 277,762 |
Chromosome 17, position 47274490, gene ITGB3 (integrin subunit beta 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GTTGGAGTGTAATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCTTTTCTTTCTTTCTCTCTCCTTCCTT... | GTTGGAGTGTAATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCTTTTCTTTCTTTCTCTCTCCTTCCTT... | pathogenic | 277,764 |
Is the genetic mutation found on chromosome 17 at position 47274500, within the gene ITGB3 (integrin subunit beta 3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | AATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCTTTTCTTTCTTTCTCTCTCCTTCCTTCCTTTCTTTC... | AATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCTTTTCTTTCTTTCTCTCTCCTTCCTTCCTTTCTTTC... | pathogenic | 277,765 |
Evaluate the clinical significance of the mutation at chromosome 17, position 47283410 in gene ITGB3 (integrin subunit beta 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Glanzmann_thrombasthenia'] | CTCATAGACATGCACCCACACAGTGTTGGCTAAATTGGCTGAATGTCAGAGCCGGAAGGGACTGAAAACACTGTGTCATCTAAAGGCCTTGTTGAACAGGTGAGGACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGG... | CTCATAGACATGCACCCACACAGTGTTGGCTAAATTGGCTGAATGTCAGAGCCGGAAGGGACTGAAAACACTGTGTCATCTAAAGGCCTTGTTGAACAGGTGAGGACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGG... | pathogenic | 277,773 |
Determine if the mutation at chromosome 17, position 47283411 in gene ITGB3 (integrin subunit beta 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | TCATAGACATGCACCCACACAGTGTTGGCTAAATTGGCTGAATGTCAGAGCCGGAAGGGACTGAAAACACTGTGTCATCTAAAGGCCTTGTTGAACAGGTGAGGACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGC... | TCATAGACATGCACCCACACAGTGTTGGCTAAATTGGCTGAATGTCAGAGCCGGAAGGGACTGAAAACACTGTGTCATCTAAAGGCCTTGTTGAACAGGTGAGGACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGC... | pathogenic | 277,774 |
Mutation at chromosome 17, position 47283512, within ITGB3 (integrin subunit beta 3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | AGGACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGCTCTGGTTAGGTGCCTGGCCCATGTTCCCAAGTTTGTGGAGTTTATTCATAATTAGCTTATCCAGGAAGTACTTGTCAAGCATCTCATAGTAATAGCTTACA... | AGGACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGCTCTGGTTAGGTGCCTGGCCCATGTTCCCAAGTTTGTGGAGTTTATTCATAATTAGCTTATCCAGGAAGTACTTGTCAAGCATCTCATAGTAATAGCTTACA... | pathogenic | 277,778 |
Variant chromosome 17, position 47283514, gene ITGB3 (integrin subunit beta 3): benign or pathogenic? Disease(s)? | pathogenic; ['Glanzmann_thrombasthenia'] | GACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGCTCTGGTTAGGTGCCTGGCCCATGTTCCCAAGTTTGTGGAGTTTATTCATAATTAGCTTATCCAGGAAGTACTTGTCAAGCATCTCATAGTAATAGCTTACATT... | GACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGCTCTGGTTAGGTGCCTGGCCCATGTTCCCAAGTTTGTGGAGTTTATTCATAATTAGCTTATCCAGGAAGTACTTGTCAAGCATCTCATAGTAATAGCTTACATT... | pathogenic | 277,779 |
Variant in gene ITGB3 (integrin subunit beta 3), located at chromosome 17 position 47284481: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | CTATGATTTTGATTGCTGTTAAGTACTGAAGGAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGA... | CTATGATTTTGATTGCTGTTAAGTACTGAAGGAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGA... | pathogenic | 277,787 |
Determine if the mutation at chromosome 17, position 47284647 in gene ITGB3 (integrin subunit beta 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | TCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTT... | TCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTT... | pathogenic | 277,802 |
Evaluate this variant at chromosome 17, position 47284679, gene ITGB3 (integrin subunit beta 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Glanzmann_thrombasthenia'] | GTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAA... | GTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAA... | pathogenic | 277,803 |
Determine if the mutation at chromosome 17, position 47284692 in gene ITGB3 (integrin subunit beta 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | CGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTC... | CGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTC... | pathogenic | 277,804 |
Gene ITGB3 (integrin subunit beta 3) variant at chromosome position 47286318 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glanzmann_thrombasthenia'] | TAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAA... | TAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAA... | pathogenic | 277,813 |
Assess the variant on chromosome 17, position 47286351, impacting ITGB3 (integrin subunit beta 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bleeding_disorder,_platelet-type,_24', 'Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_2', 'Myocardial_infarction,_susceptibility_to', 'Platelet-type_bleeding_disorder_16'] | TTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGG... | TTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGG... | pathogenic | 277,814 |
Mutation at chromosome 17, position 47286400, within ITGB3: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | ATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGA... | ATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGA... | pathogenic | 277,822 |
Does the variant impacting ITGB3 on chromosome 17, position 47286416, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glanzmann_thrombasthenia'] | CCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCC... | CCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCC... | pathogenic | 277,825 |
Is the variant located on chromosome 17 at position 47287102, gene ITGB3, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glanzmann_thrombasthenia'] | GGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGA... | GGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGA... | pathogenic | 277,829 |
Is the variant located on chromosome 17 at position 47287138, gene ITGB3, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glanzmann_thrombasthenia'] | GGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTT... | GGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTT... | pathogenic | 277,831 |
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