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 |
|---|---|---|---|---|---|
Mutation at chromosome X, position 18579935, within CDKL5 (cyclin dependent kinase like 5): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Angelman_syndrome-like', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | AAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTAGATGGC... | AAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTAGATGGC... | pathogenic | 330,230 |
Variant in gene CDKL5 (cyclin dependent kinase like 5), located at chromosome X position 18581938: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | CCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGATATTGTGGTGAGATCTTTACATTTGTATAACTA... | CCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGATATTGTGGTGAGATCTTTACATTTGTATAACTA... | pathogenic | 330,241 |
Evaluate the clinical significance of the mutation at chromosome X, position 18584293 in gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | ATAGTTGTTCCAGGTTTAATCATGAACACTAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTT... | ATAGTTGTTCCAGGTTTAATCATGAACACTAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTT... | pathogenic | 330,253 |
The chromosome X, position 18584301 genetic variant in gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Angelman_syndrome-like', 'CDKL5-related_disorder', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | TCCAGGTTTAATCATGAACACTAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCAT... | TCCAGGTTTAATCATGAACACTAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCAT... | pathogenic | 330,254 |
Regarding the variant found on chromosome X at position 18584344 in gene CDKL5 (cyclin dependent kinase like 5): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Angelman_syndrome-like', 'Developmental_and_epileptic_encephalopathy,_2'] | ACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTAACCTGTATGCTG... | ACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTAACCTGTATGCTG... | pathogenic | 330,265 |
A genetic variant on chromosome X, position 18584347, affects the gene CDKL5 (cyclin dependent kinase like 5). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | TAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTAACCTGTATGCTGAAA... | TAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTAACCTGTATGCTGAAA... | pathogenic | 330,266 |
Considering the genetic mutation at chromosome X, position 18595427, impacting CDKL5 (cyclin dependent kinase like 5): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Abnormality_of_the_nervous_system', 'Developmental_and_epileptic_encephalopathy,_2'] | CTTATCAATGAAATTTCACTCCTAGAAAAAATAAGGGGGTATCTGGTAGCATAAGATAGACCTCATACACAAAATATTAACATGTACTGGTATAGGGTCTTTTATCACAGCATGGTAGGTGTCTTTCTATTTGGGCTGATATTTAATGCTCCAGTAACATCGAAGGGAGCCTCTGTACTTCCCTTAGGAGAGGCACCTAGGTTTAGAAAGAGTGTGGGTTTGGATCACAAGACTGGGTGCAAATACTAGTTCTACTGCTGTTTAATTATGTAACTTGCCTTGAACCAGTTATTTGAACTTTCTGATTGTCACCTTCTTCA... | CTTATCAATGAAATTTCACTCCTAGAAAAAATAAGGGGGTATCTGGTAGCATAAGATAGACCTCATACACAAAATATTAACATGTACTGGTATAGGGTCTTTTATCACAGCATGGTAGGTGTCTTTCTATTTGGGCTGATATTTAATGCTCCAGTAACATCGAAGGGAGCCTCTGTACTTCCCTTAGGAGAGGCACCTAGGTTTAGAAAGAGTGTGGGTTTGGATCACAAGACTGGGTGCAAATACTAGTTCTACTGCTGTTTAATTATGTAACTTGCCTTGAACCAGTTATTTGAACTTTCTGATTGTCACCTTCTTCA... | pathogenic | 330,289 |
Variant at chromosome X, position 18598512, gene CDKL5 (cyclin dependent kinase like 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Angelman_syndrome-like', 'Developmental_and_epileptic_encephalopathy,_2'] | ATATTTTCCAAATTTAATTAAATACTGAATACTGTTTTTTATAAAACTCTAAAGCTCTAGTGTTCTTCTGAATACAGATTGAGAAATGCTACTGGCAAAAAAGAACCCTTAAAGCCTTTTGTTTAATTAGTCATAAATTATCACTTAAATCAGGTAGGTTTTGTCAATACACTTTTTCACACAGTCAGTCCTCATGGATTGGGACCTCAATAATTTGGTAACTTCTAAAATGTGAATAGAATAAAGTAGGAACATGGAATTAAATACAATTTCATGTTTTCTGCCTTTCATCTTTCTTTAGTTAAAAATAATTGAATGTT... | ATATTTTCCAAATTTAATTAAATACTGAATACTGTTTTTTATAAAACTCTAAAGCTCTAGTGTTCTTCTGAATACAGATTGAGAAATGCTACTGGCAAAAAAGAACCCTTAAAGCCTTTTGTTTAATTAGTCATAAATTATCACTTAAATCAGGTAGGTTTTGTCAATACACTTTTTCACACAGTCAGTCCTCATGGATTGGGACCTCAATAATTTGGTAACTTCTAAAATGTGAATAGAATAAAGTAGGAACATGGAATTAAATACAATTTCATGTTTTCTGCCTTTCATCTTTCTTTAGTTAAAAATAATTGAATGTT... | pathogenic | 330,293 |
For chromosome X, position 18604033, gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['CDKL5_disorder'] | GTAGGAAGAGCCACCCTGTAGAAGCTGTCATCTAGAAGGACACAGCCACGATCTGAGTCAGGGTGCAGATGCCTGCAGGGAAGGAGCAGGGAAGACATCCCCCAGCCCCTCTCTCCTCTTGTCTTGTGATGCCTTCCACTGCTAAGCCCAACCAGAAGCTAGCTGGCTAGGAAGCGTGGGTGACAATCTGCAGCATTGGGTTCCTGAGGCCCAGGGCCGGGCTCATGGGGGTGGAGGACGGATTGGAGGTTGGGCAAATGGAGAATAACCAACACACTTAGATCTATTTGTGGATGAGACAGTCTATCACTATTTAGGTT... | GTAGGAAGAGCCACCCTGTAGAAGCTGTCATCTAGAAGGACACAGCCACGATCTGAGTCAGGGTGCAGATGCCTGCAGGGAAGGAGCAGGGAAGACATCCCCCAGCCCCTCTCTCCTCTTGTCTTGTGATGCCTTCCACTGCTAAGCCCAACCAGAAGCTAGCTGGCTAGGAAGCGTGGGTGACAATCTGCAGCATTGGGTTCCTGAGGCCCAGGGCCGGGCTCATGGGGGTGGAGGACGGATTGGAGGTTGGGCAAATGGAGAATAACCAACACACTTAGATCTATTTGTGGATGAGACAGTCTATCACTATTTAGGTT... | pathogenic | 330,306 |
Clinical classification of chromosome X, position 18604131, gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['CDKL5_disorder', 'Inborn_genetic_diseases'] | CCCCCAGCCCCTCTCTCCTCTTGTCTTGTGATGCCTTCCACTGCTAAGCCCAACCAGAAGCTAGCTGGCTAGGAAGCGTGGGTGACAATCTGCAGCATTGGGTTCCTGAGGCCCAGGGCCGGGCTCATGGGGGTGGAGGACGGATTGGAGGTTGGGCAAATGGAGAATAACCAACACACTTAGATCTATTTGTGGATGAGACAGTCTATCACTATTTAGGTTTGAAAAGTCGCTGAGATATTTCAGTTACCAAGATATAAGTTGGCAAACAACTCAATGGTTTAAAACCTGATGCCTTTAGGATATAGGGACTTTATTGA... | CCCCCAGCCCCTCTCTCCTCTTGTCTTGTGATGCCTTCCACTGCTAAGCCCAACCAGAAGCTAGCTGGCTAGGAAGCGTGGGTGACAATCTGCAGCATTGGGTTCCTGAGGCCCAGGGCCGGGCTCATGGGGGTGGAGGACGGATTGGAGGTTGGGCAAATGGAGAATAACCAACACACTTAGATCTATTTGTGGATGAGACAGTCTATCACTATTTAGGTTTGAAAAGTCGCTGAGATATTTCAGTTACCAAGATATAAGTTGGCAAACAACTCAATGGTTTAAAACCTGATGCCTTTAGGATATAGGGACTTTATTGA... | pathogenic | 330,310 |
A mutation at chromosome position 18604168 on chromosome X in gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Angelman_syndrome-like', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2', 'Epileptic_encephalopathy', 'Inborn_genetic_diseases'] | CCACTGCTAAGCCCAACCAGAAGCTAGCTGGCTAGGAAGCGTGGGTGACAATCTGCAGCATTGGGTTCCTGAGGCCCAGGGCCGGGCTCATGGGGGTGGAGGACGGATTGGAGGTTGGGCAAATGGAGAATAACCAACACACTTAGATCTATTTGTGGATGAGACAGTCTATCACTATTTAGGTTTGAAAAGTCGCTGAGATATTTCAGTTACCAAGATATAAGTTGGCAAACAACTCAATGGTTTAAAACCTGATGCCTTTAGGATATAGGGACTTTATTGATCTGGGGATAGACTCTGTTAATATAATTTAACAGAAA... | CCACTGCTAAGCCCAACCAGAAGCTAGCTGGCTAGGAAGCGTGGGTGACAATCTGCAGCATTGGGTTCCTGAGGCCCAGGGCCGGGCTCATGGGGGTGGAGGACGGATTGGAGGTTGGGCAAATGGAGAATAACCAACACACTTAGATCTATTTGTGGATGAGACAGTCTATCACTATTTAGGTTTGAAAAGTCGCTGAGATATTTCAGTTACCAAGATATAAGTTGGCAAACAACTCAATGGTTTAAAACCTGATGCCTTTAGGATATAGGGACTTTATTGATCTGGGGATAGACTCTGTTAATATAATTTAACAGAAA... | pathogenic | 330,312 |
Located at chromosome X position 18604234, the variant affecting gene CDKL5 (cyclin dependent kinase like 5)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Atypical_Rett_syndrome', 'CDKL5_disorder'] | TCCTGAGGCCCAGGGCCGGGCTCATGGGGGTGGAGGACGGATTGGAGGTTGGGCAAATGGAGAATAACCAACACACTTAGATCTATTTGTGGATGAGACAGTCTATCACTATTTAGGTTTGAAAAGTCGCTGAGATATTTCAGTTACCAAGATATAAGTTGGCAAACAACTCAATGGTTTAAAACCTGATGCCTTTAGGATATAGGGACTTTATTGATCTGGGGATAGACTCTGTTAATATAATTTAACAGAAAGTGAAACTTAGCATTTTTTTCTTTGTAATTCCTTTCTAGGTCTGGGCTTTGCCATTTTAGTGCTCA... | TCCTGAGGCCCAGGGCCGGGCTCATGGGGGTGGAGGACGGATTGGAGGTTGGGCAAATGGAGAATAACCAACACACTTAGATCTATTTGTGGATGAGACAGTCTATCACTATTTAGGTTTGAAAAGTCGCTGAGATATTTCAGTTACCAAGATATAAGTTGGCAAACAACTCAATGGTTTAAAACCTGATGCCTTTAGGATATAGGGACTTTATTGATCTGGGGATAGACTCTGTTAATATAATTTAACAGAAAGTGAAACTTAGCATTTTTTTCTTTGTAATTCCTTTCTAGGTCTGGGCTTTGCCATTTTAGTGCTCA... | pathogenic | 330,314 |
The chromosome X, position 18604369 genetic variant in gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Angelman_syndrome-like', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | TATTTCAGTTACCAAGATATAAGTTGGCAAACAACTCAATGGTTTAAAACCTGATGCCTTTAGGATATAGGGACTTTATTGATCTGGGGATAGACTCTGTTAATATAATTTAACAGAAAGTGAAACTTAGCATTTTTTTCTTTGTAATTCCTTTCTAGGTCTGGGCTTTGCCATTTTAGTGCTCATATTTAGGAGTCCTTTTATTTAATGCTGTAATTCTAATGACCTAACTGGAAGAGATTAGTGAGTACATTCAAGAGATGAGGCCCCCCACACTGTCACAGGCTTGCTCGATATCAGATTTTTTTTTCTTTTTTGAC... | TATTTCAGTTACCAAGATATAAGTTGGCAAACAACTCAATGGTTTAAAACCTGATGCCTTTAGGATATAGGGACTTTATTGATCTGGGGATAGACTCTGTTAATATAATTTAACAGAAAGTGAAACTTAGCATTTTTTTCTTTGTAATTCCTTTCTAGGTCTGGGCTTTGCCATTTTAGTGCTCATATTTAGGAGTCCTTTTATTTAATGCTGTAATTCTAATGACCTAACTGGAAGAGATTAGTGAGTACATTCAAGAGATGAGGCCCCCCACACTGTCACAGGCTTGCTCGATATCAGATTTTTTTTTCTTTTTTGAC... | pathogenic | 330,325 |
Is chromosome X, position 18604374, gene CDKL5 (cyclin dependent kinase like 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CAGTTACCAAGATATAAGTTGGCAAACAACTCAATGGTTTAAAACCTGATGCCTTTAGGATATAGGGACTTTATTGATCTGGGGATAGACTCTGTTAATATAATTTAACAGAAAGTGAAACTTAGCATTTTTTTCTTTGTAATTCCTTTCTAGGTCTGGGCTTTGCCATTTTAGTGCTCATATTTAGGAGTCCTTTTATTTAATGCTGTAATTCTAATGACCTAACTGGAAGAGATTAGTGAGTACATTCAAGAGATGAGGCCCCCCACACTGTCACAGGCTTGCTCGATATCAGATTTTTTTTTCTTTTTTGACACTCT... | CAGTTACCAAGATATAAGTTGGCAAACAACTCAATGGTTTAAAACCTGATGCCTTTAGGATATAGGGACTTTATTGATCTGGGGATAGACTCTGTTAATATAATTTAACAGAAAGTGAAACTTAGCATTTTTTTCTTTGTAATTCCTTTCTAGGTCTGGGCTTTGCCATTTTAGTGCTCATATTTAGGAGTCCTTTTATTTAATGCTGTAATTCTAATGACCTAACTGGAAGAGATTAGTGAGTACATTCAAGAGATGAGGCCCCCCACACTGTCACAGGCTTGCTCGATATCAGATTTTTTTTTCTTTTTTGACACTCT... | benign | 330,326 |
Is the chromosome X, position 18604474 variant in CDKL5 (cyclin dependent kinase like 5) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Angelman_syndrome-like', 'Developmental_and_epileptic_encephalopathy,_2'] | TAATTTAACAGAAAGTGAAACTTAGCATTTTTTTCTTTGTAATTCCTTTCTAGGTCTGGGCTTTGCCATTTTAGTGCTCATATTTAGGAGTCCTTTTATTTAATGCTGTAATTCTAATGACCTAACTGGAAGAGATTAGTGAGTACATTCAAGAGATGAGGCCCCCCACACTGTCACAGGCTTGCTCGATATCAGATTTTTTTTTCTTTTTTGACACTCTCAGGTAGCTTTCTGGCAGAGATTACTGACTGAAAGGTAGACTAGGAAATGGGTCCTTATGTTATTTAATGGCTGAGCATGCAGGTTCTCATGGGGAAAAT... | TAATTTAACAGAAAGTGAAACTTAGCATTTTTTTCTTTGTAATTCCTTTCTAGGTCTGGGCTTTGCCATTTTAGTGCTCATATTTAGGAGTCCTTTTATTTAATGCTGTAATTCTAATGACCTAACTGGAAGAGATTAGTGAGTACATTCAAGAGATGAGGCCCCCCACACTGTCACAGGCTTGCTCGATATCAGATTTTTTTTTCTTTTTTGACACTCTCAGGTAGCTTTCTGGCAGAGATTACTGACTGAAAGGTAGACTAGGAAATGGGTCCTTATGTTATTTAATGGCTGAGCATGCAGGTTCTCATGGGGAAAAT... | pathogenic | 330,331 |
Is the genetic change at chromosome X, position 18604594, within gene CDKL5 (cyclin dependent kinase like 5) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | CCTAACTGGAAGAGATTAGTGAGTACATTCAAGAGATGAGGCCCCCCACACTGTCACAGGCTTGCTCGATATCAGATTTTTTTTTCTTTTTTGACACTCTCAGGTAGCTTTCTGGCAGAGATTACTGACTGAAAGGTAGACTAGGAAATGGGTCCTTATGTTATTTAATGGCTGAGCATGCAGGTTCTCATGGGGAAAATTGGAAGTCAGAGCTTCACAGACTACCATTCTACATGAACAAAAAAAAGTGACTTCCAATTAGTGTGTCATGGGAACAAAACTCTCCCAAATCAAACCATCTGTAGCAATAGCAATATTTG... | CCTAACTGGAAGAGATTAGTGAGTACATTCAAGAGATGAGGCCCCCCACACTGTCACAGGCTTGCTCGATATCAGATTTTTTTTTCTTTTTTGACACTCTCAGGTAGCTTTCTGGCAGAGATTACTGACTGAAAGGTAGACTAGGAAATGGGTCCTTATGTTATTTAATGGCTGAGCATGCAGGTTCTCATGGGGAAAATTGGAAGTCAGAGCTTCACAGACTACCATTCTACATGAACAAAAAAAAGTGACTTCCAATTAGTGTGTCATGGGAACAAAACTCTCCCAAATCAAACCATCTGTAGCAATAGCAATATTTG... | pathogenic | 330,335 |
Classify the chromosome X variant at position 18608923 affecting gene CDKL5 (cyclin dependent kinase like 5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TTCTACTCCTCAGAAGTAGAAACAATAGGATTTGTGATTTGAAGGATTGAATATAGGAAAAAGGAAGACTTCATGGTTTCTTTTCTAGGACCTCCTTTTTGGAGTGAAAGAGAGTAGTTTTGAAGTCACCTAATTCAACCCCTTCATTTCACAGATGAGCATGTCGAAGCTCAGAGAAGTTGGGTGAGTTGCTCCAAGTTTACCCAACCAGCTCAGGATGGAGCTGGGATTATGAGGCAAGCTCCAGGTGCTGAGGCCAGCTGCTTGCCACTGGTGTCTTGCGGACATGTTGAATTTGAAGTGACCTTGGCCTCTAAGCA... | TTCTACTCCTCAGAAGTAGAAACAATAGGATTTGTGATTTGAAGGATTGAATATAGGAAAAAGGAAGACTTCATGGTTTCTTTTCTAGGACCTCCTTTTTGGAGTGAAAGAGAGTAGTTTTGAAGTCACCTAATTCAACCCCTTCATTTCACAGATGAGCATGTCGAAGCTCAGAGAAGTTGGGTGAGTTGCTCCAAGTTTACCCAACCAGCTCAGGATGGAGCTGGGATTATGAGGCAAGCTCCAGGTGCTGAGGCCAGCTGCTTGCCACTGGTGTCTTGCGGACATGTTGAATTTGAAGTGACCTTGGCCTCTAAGCA... | benign | 330,355 |
For chromosome X, position 18609487, gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Angelman_syndrome-like', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | AATCGGAAAAACAAATAGCTTTTTAACTTAGAAAAAGTAATTGCTCTCTGAGAATTCCAGGAAAAGAATTTTTGTGAACATGGTGGTCATAAACGAATTATAAACAGTTACTGTGGGCTAAGCACAGATCTGTTACAGACTGTGAAGGCCAGTTCAGGAGGTACAGTGCCCAGCTGCAAGAAAGTACAAGTTTAAAAGCACAAAGATACCAGAAGGCTGGAAAAGTAACTTAAGCTGTGAGTGAATCCTAGGAATCACTCCCATGCAAAGTATCGGGCCACCTTGAAAAGCACAGAGACTCTTACTGAGTTTATATTAGA... | AATCGGAAAAACAAATAGCTTTTTAACTTAGAAAAAGTAATTGCTCTCTGAGAATTCCAGGAAAAGAATTTTTGTGAACATGGTGGTCATAAACGAATTATAAACAGTTACTGTGGGCTAAGCACAGATCTGTTACAGACTGTGAAGGCCAGTTCAGGAGGTACAGTGCCCAGCTGCAAGAAAGTACAAGTTTAAAAGCACAAAGATACCAGAAGGCTGGAAAAGTAACTTAAGCTGTGAGTGAATCCTAGGAATCACTCCCATGCAAAGTATCGGGCCACCTTGAAAAGCACAGAGACTCTTACTGAGTTTATATTAGA... | pathogenic | 330,360 |
Variant at chromosome position 18619911, chromosome X, gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Angelman_syndrome-like', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | TCCAGTGCCTCTTGAAAAGCCCCTGTAGAGGGTCTTTGGCCCATCTTCCCTGTGTCCTGGGGACCCAACGATGCAACATGCAAACTGCAAACATTGAGCTTTCCTTTTATTACCCTCCCCTTCTCACTTTCATCTTATTCACCGTTTCATCCTGCATAGATTCTCCTCTTACCATGCAAGATCCTACTTCCTCCTAGGACTGGTGTCTCAAGCCTTCATTTCCTCTTGTGCCAGCATTAACATTCTTACAGTAATGCCCATTCACATTCTGAGATGGCAGTCATGATGAATATGTCTTCCTTAAAGATTTGCTGGATTGG... | TCCAGTGCCTCTTGAAAAGCCCCTGTAGAGGGTCTTTGGCCCATCTTCCCTGTGTCCTGGGGACCCAACGATGCAACATGCAAACTGCAAACATTGAGCTTTCCTTTTATTACCCTCCCCTTCTCACTTTCATCTTATTCACCGTTTCATCCTGCATAGATTCTCCTCTTACCATGCAAGATCCTACTTCCTCCTAGGACTGGTGTCTCAAGCCTTCATTTCCTCTTGTGCCAGCATTAACATTCTTACAGTAATGCCCATTCACATTCTGAGATGGCAGTCATGATGAATATGTCTTCCTTAAAGATTTGCTGGATTGG... | pathogenic | 330,374 |
Does the variant impacting CDKL5 (cyclin dependent kinase like 5) on chromosome X, position 18619931, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Angelman_syndrome-like', 'Atypical_Rett_syndrome', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | CCCTGTAGAGGGTCTTTGGCCCATCTTCCCTGTGTCCTGGGGACCCAACGATGCAACATGCAAACTGCAAACATTGAGCTTTCCTTTTATTACCCTCCCCTTCTCACTTTCATCTTATTCACCGTTTCATCCTGCATAGATTCTCCTCTTACCATGCAAGATCCTACTTCCTCCTAGGACTGGTGTCTCAAGCCTTCATTTCCTCTTGTGCCAGCATTAACATTCTTACAGTAATGCCCATTCACATTCTGAGATGGCAGTCATGATGAATATGTCTTCCTTAAAGATTTGCTGGATTGGCAGAAAGCACTTTTACCCTC... | CCCTGTAGAGGGTCTTTGGCCCATCTTCCCTGTGTCCTGGGGACCCAACGATGCAACATGCAAACTGCAAACATTGAGCTTTCCTTTTATTACCCTCCCCTTCTCACTTTCATCTTATTCACCGTTTCATCCTGCATAGATTCTCCTCTTACCATGCAAGATCCTACTTCCTCCTAGGACTGGTGTCTCAAGCCTTCATTTCCTCTTGTGCCAGCATTAACATTCTTACAGTAATGCCCATTCACATTCTGAGATGGCAGTCATGATGAATATGTCTTCCTTAAAGATTTGCTGGATTGGCAGAAAGCACTTTTACCCTC... | pathogenic | 330,375 |
Considering the genetic mutation at chromosome X, position 18619947, impacting CDKL5 (cyclin dependent kinase like 5): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Angelman_syndrome-like', 'Developmental_and_epileptic_encephalopathy,_2'] | TGGCCCATCTTCCCTGTGTCCTGGGGACCCAACGATGCAACATGCAAACTGCAAACATTGAGCTTTCCTTTTATTACCCTCCCCTTCTCACTTTCATCTTATTCACCGTTTCATCCTGCATAGATTCTCCTCTTACCATGCAAGATCCTACTTCCTCCTAGGACTGGTGTCTCAAGCCTTCATTTCCTCTTGTGCCAGCATTAACATTCTTACAGTAATGCCCATTCACATTCTGAGATGGCAGTCATGATGAATATGTCTTCCTTAAAGATTTGCTGGATTGGCAGAAAGCACTTTTACCCTCAACACACCTGTGGTAT... | TGGCCCATCTTCCCTGTGTCCTGGGGACCCAACGATGCAACATGCAAACTGCAAACATTGAGCTTTCCTTTTATTACCCTCCCCTTCTCACTTTCATCTTATTCACCGTTTCATCCTGCATAGATTCTCCTCTTACCATGCAAGATCCTACTTCCTCCTAGGACTGGTGTCTCAAGCCTTCATTTCCTCTTGTGCCAGCATTAACATTCTTACAGTAATGCCCATTCACATTCTGAGATGGCAGTCATGATGAATATGTCTTCCTTAAAGATTTGCTGGATTGGCAGAAAGCACTTTTACCCTCAACACACCTGTGGTAT... | pathogenic | 330,377 |
Determine if the mutation at chromosome X, position 18619961 in gene CDKL5 (cyclin dependent kinase like 5) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Angelman_syndrome-like', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | TGTGTCCTGGGGACCCAACGATGCAACATGCAAACTGCAAACATTGAGCTTTCCTTTTATTACCCTCCCCTTCTCACTTTCATCTTATTCACCGTTTCATCCTGCATAGATTCTCCTCTTACCATGCAAGATCCTACTTCCTCCTAGGACTGGTGTCTCAAGCCTTCATTTCCTCTTGTGCCAGCATTAACATTCTTACAGTAATGCCCATTCACATTCTGAGATGGCAGTCATGATGAATATGTCTTCCTTAAAGATTTGCTGGATTGGCAGAAAGCACTTTTACCCTCAACACACCTGTGGTATTTTGTGAGACTTTC... | TGTGTCCTGGGGACCCAACGATGCAACATGCAAACTGCAAACATTGAGCTTTCCTTTTATTACCCTCCCCTTCTCACTTTCATCTTATTCACCGTTTCATCCTGCATAGATTCTCCTCTTACCATGCAAGATCCTACTTCCTCCTAGGACTGGTGTCTCAAGCCTTCATTTCCTCTTGTGCCAGCATTAACATTCTTACAGTAATGCCCATTCACATTCTGAGATGGCAGTCATGATGAATATGTCTTCCTTAAAGATTTGCTGGATTGGCAGAAAGCACTTTTACCCTCAACACACCTGTGGTATTTTGTGAGACTTTC... | pathogenic | 330,378 |
Considering the variant on chromosome X, location 18625182, involving gene CDKL5 (cyclin dependent kinase like 5), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['CDKL5_disorder'] | GTTACATAAGTCCTCAGAGCATATGGTGACTTTGCCAACTTGGTAATTGTATCCTAGTTAGTTAGTATCTCAACTTGTGATGATGCTTCCATTTAAATATTGAAATTTCTGTTTCTTCTCTTTGAAAACCAGTATCTGAATTGTGCTAGATGTTTTCCATTGGGTAAATATTTCTAGCAGTACAGAACAAGGCCTCTTACTCAACATTAGTATCCCACCACAGTGATCAATACCTCTTCCTAGTGATGTTTTCAGGCTTAAAAGTTGACCAAATTCGAAAGGGTTTCCAGTATGTTGGGATTTTTTTTCTCCTAATAGGC... | GTTACATAAGTCCTCAGAGCATATGGTGACTTTGCCAACTTGGTAATTGTATCCTAGTTAGTTAGTATCTCAACTTGTGATGATGCTTCCATTTAAATATTGAAATTTCTGTTTCTTCTCTTTGAAAACCAGTATCTGAATTGTGCTAGATGTTTTCCATTGGGTAAATATTTCTAGCAGTACAGAACAAGGCCTCTTACTCAACATTAGTATCCCACCACAGTGATCAATACCTCTTCCTAGTGATGTTTTCAGGCTTAAAAGTTGACCAAATTCGAAAGGGTTTCCAGTATGTTGGGATTTTTTTTCTCCTAATAGGC... | pathogenic | 330,385 |
Determine if the mutation at chromosome X, position 18628508 in gene CDKL5 (cyclin dependent kinase like 5) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Angelman_syndrome-like', 'Atypical_Rett_syndrome', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | TTTCTGCTTCTAACATAATATAAGCTGGGGATGGTGGAAGCATAGAGAACCAGATATCCAAGTTTATTGGATATGTATGCAAACTAAAGAGACAAGCCTCTGAGTGAGGGCCTGCTTCTCTATTCCCAATTTCAAAACAAAACAAAAAGAATAGAGAGCTTTAGAACTTTCTTTGTGAAACCATTTCTTTTACCAAGAAGCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCCCCCCCTCCCCCCCCTTCTCTCTTTCTTTCTGGCAGGGTCTT... | TTTCTGCTTCTAACATAATATAAGCTGGGGATGGTGGAAGCATAGAGAACCAGATATCCAAGTTTATTGGATATGTATGCAAACTAAAGAGACAAGCCTCTGAGTGAGGGCCTGCTTCTCTATTCCCAATTTCAAAACAAAACAAAAAGAATAGAGAGCTTTAGAACTTTCTTTGTGAAACCATTTCTTTTACCAAGAAGCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCCCCCCCTCCCCCCCCTTCTCTCTTTCTTTCTGGCAGGGTCTT... | pathogenic | 330,399 |
For chromosome X, position 18628543, gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | GGAAGCATAGAGAACCAGATATCCAAGTTTATTGGATATGTATGCAAACTAAAGAGACAAGCCTCTGAGTGAGGGCCTGCTTCTCTATTCCCAATTTCAAAACAAAACAAAAAGAATAGAGAGCTTTAGAACTTTCTTTGTGAAACCATTTCTTTTACCAAGAAGCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCCCCCCCTCCCCCCCCTTCTCTCTTTCTTTCTGGCAGGGTCTTACTCAATCACTCAGGCTGGAGTGCAGTGGCAAGAT... | GGAAGCATAGAGAACCAGATATCCAAGTTTATTGGATATGTATGCAAACTAAAGAGACAAGCCTCTGAGTGAGGGCCTGCTTCTCTATTCCCAATTTCAAAACAAAACAAAAAGAATAGAGAGCTTTAGAACTTTCTTTGTGAAACCATTTCTTTTACCAAGAAGCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCCCCCCCTCCCCCCCCTTCTCTCTTTCTTTCTGGCAGGGTCTTACTCAATCACTCAGGCTGGAGTGCAGTGGCAAGAT... | pathogenic | 330,401 |
A genetic variant at chromosome X, position 18628694, affecting gene CDKL5 (cyclin dependent kinase like 5)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Angelman_syndrome-like', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | CTTTTACCAAGAAGCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCCCCCCCTCCCCCCCCTTCTCTCTTTCTTTCTGGCAGGGTCTTACTCAATCACTCAGGCTGGAGTGCAGTGGCAAGATTATGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCCATTCTCCCATCTCAGCCTCCAGAGTAACTGGAACTACAGGCACACGCCACCATACATGGCCAGTTTTTTAATTTTTTTATAGAGACGGGGTCTCGCCTTGTTGCCCAGGCTAG... | CTTTTACCAAGAAGCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCCCCCCCTCCCCCCCCTTCTCTCTTTCTTTCTGGCAGGGTCTTACTCAATCACTCAGGCTGGAGTGCAGTGGCAAGATTATGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCCATTCTCCCATCTCAGCCTCCAGAGTAACTGGAACTACAGGCACACGCCACCATACATGGCCAGTTTTTTAATTTTTTTATAGAGACGGGGTCTCGCCTTGTTGCCCAGGCTAG... | pathogenic | 330,407 |
Variant at chromosome position 18628700, chromosome X, gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Angelman_syndrome-like', 'Developmental_and_epileptic_encephalopathy,_2'] | CCAAGAAGCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCCCCCCCTCCCCCCCCTTCTCTCTTTCTTTCTGGCAGGGTCTTACTCAATCACTCAGGCTGGAGTGCAGTGGCAAGATTATGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCCATTCTCCCATCTCAGCCTCCAGAGTAACTGGAACTACAGGCACACGCCACCATACATGGCCAGTTTTTTAATTTTTTTATAGAGACGGGGTCTCGCCTTGTTGCCCAGGCTAGAAGCTC... | CCAAGAAGCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCCCCCCCTCCCCCCCCTTCTCTCTTTCTTTCTGGCAGGGTCTTACTCAATCACTCAGGCTGGAGTGCAGTGGCAAGATTATGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCCATTCTCCCATCTCAGCCTCCAGAGTAACTGGAACTACAGGCACACGCCACCATACATGGCCAGTTTTTTAATTTTTTTATAGAGACGGGGTCTCGCCTTGTTGCCCAGGCTAGAAGCTC... | pathogenic | 330,408 |
Clinical classification of chromosome X, position 18642099, gene RS1: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Juvenile_retinoschisis', 'Retinal_dystrophy'] | GTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCT... | GTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCT... | pathogenic | 330,428 |
Gene mutation in RS1 at chromosome X, position 18642099—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Juvenile_retinoschisis', 'Retinal_dystrophy'] | GTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCT... | GTGATAAACTTTCTAAAATTGATCTAGTGATAATGGTTGCACAACTCTGAATATACCAAAAGTCATCAAATTGTACACTTTAAATGGATACAAATTGTATGTGAACTTAATCTCAATAAAGCCGTGACAAAAGTTTCCAACATGAACTCTTATTTGGAAAGCCTTTCTCCCTGCCTCACTGTTTCCTCCTCTCCTTTTTCCCTGAACTGCACTCTCTCGACTCCTGTGTTTGATGTGCCTTAACTCTTAGGATACTGCCATTTTGTCTGACAGTCCATGTCGTGACCAAAGTTAATTCACCTTTCCAAATAAGGGTCTCT... | pathogenic | 330,429 |
Is chromosome X, position 18644431, gene RS1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic | TCTGTTTACACTTCAATTAATTAAAATTAGATAAAAATTCAGTTCCTCAGTCACATGAGCCACATTTCAAGTGGCCGCCATATTGGACAGTGCAGATGTGAACATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAA... | TCTGTTTACACTTCAATTAATTAAAATTAGATAAAAATTCAGTTCCTCAGTCACATGAGCCACATTTCAAGTGGCCGCCATATTGGACAGTGCAGATGTGAACATTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAA... | pathogenic | 330,441 |
Classify the chromosome X variant at position 18644535 affecting gene RS1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | TTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGG... | TTTCCATCACAGAAAGTTCTATTGGAGGGTGCTGCTAGAAAATGCCACTTGACTCATCGCTTTTGAGTTTTTATCCTTTGCATTTTGACATTTTGAAAAGGCCCACATCACACTTACATGTTCCAAAGGTATCCAAAGTAGGGCTCAAGTGAAAACCCGTGCTTGGCTCAGGAGTTGTAAGCCAAAACTTAAATGTGTATTCCTACTTTGATACAAGTGATGAGTACCTTTCCAACTTGGAAAATGTTTTTTTAAAAAGACATAAAAACTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGG... | pathogenic | 330,454 |
Does the variant on chromosome X at location 18647198 affecting gene RS1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy'] | TTTTTTTAGCTACATTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTC... | TTTTTTTAGCTACATTCCTCATAAATCGTGGAAACCTATAGTAGTTCCCCCCGCCACCTCCTTTTTTCCTTTTAGTGTGTATTTTAATTAGCTTTGTAGGACTTAAGCCCTGGGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTC... | pathogenic | 330,468 |
The mutation in gene RS1 at chromosome X, position 18647310—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Juvenile_retinoschisis', 'Retinal_dystrophy'] | GGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTCCAAGTGCC... | GGCCACCTTCTCTTCCTTTTCCAGACTTATTCCTTGGGTGGCTCCTGACTTTTCACTTCTATCCCACACCTTTTCTAAACCCCAAATCCAGAGAGTTCAGTTGCCAGCTAGAGGACTTCTGTATGCCTCTCAGCATCTCAGATGAAACACGTCCCAATGTGAGCCCCTAAGTGCCCCCACCCCACCCTGCTTTCAGACCCCACGTCTCTGAGTTAACCCCATCCTTGCATGTGTCCATGCCGGCCACCTGAGAACCATCCTGGGCCCCTCCTCTCCACCTCCAGTGCCCAATCTATCTATTGGCTCCATCTCCAAGTGCC... | pathogenic | 330,487 |
The mutation in gene RS1 (retinoschisin 1) at chromosome X, position 18656739—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Juvenile_retinoschisis', 'Retinal_dystrophy'] | TGCCATGGAGCCTGAGGGGATGTCTGATAGGAAAAGCCCACCGGTTTCCTCACGATTGGGACCCCATAGTTCCCTTGGAAAACAAACTTAGTTCAGAAATGACTTCCCCTTCAGAAAATAGGAAAATCACGCAGTAGAAACCATTGTACCCTACCCTCCCACACACACATTGCAATTTGCTTTTTTAATGCATATTTAATGAAATAATGAAAAGAGCCTCACACACAGACACACAAACCTGTCTCTTGTGAAGCTATTATTAGGCAATTGTGTAAAGTAAATGAAGTGGCACAATACCATCATAACCCTGGAGAGGCAGC... | TGCCATGGAGCCTGAGGGGATGTCTGATAGGAAAAGCCCACCGGTTTCCTCACGATTGGGACCCCATAGTTCCCTTGGAAAACAAACTTAGTTCAGAAATGACTTCCCCTTCAGAAAATAGGAAAATCACGCAGTAGAAACCATTGTACCCTACCCTCCCACACACACATTGCAATTTGCTTTTTTAATGCATATTTAATGAAATAATGAAAAGAGCCTCACACACAGACACACAAACCTGTCTCTTGTGAAGCTATTATTAGGCAATTGTGTAAAGTAAATGAAGTGGCACAATACCATCATAACCCTGGAGAGGCAGC... | pathogenic | 330,525 |
Clinical significance of chromosome X, position 18672032, gene RS1 (retinoschisin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy'] | GAGCTCCCCAGCCATGCACAAAGATTGGTAAACTTTAGAACACGAAAGAGTGCTATCCTTCATGCCTCCTGACAGCCTGTCTTTTATTGCTGATATCCACTAACTGGGCAGGTCTAATTTTAAAATGCTTTGGTAAACATTTCTAGGACTTCTTCGCATCGCGGGGGTGGGGAGGTCACAGAACAGGGTTGTTAGACTCAGCACTGTGGAAGAAACAAGGATGCCCTGCATGTCAAGTCCTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCAGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTG... | GAGCTCCCCAGCCATGCACAAAGATTGGTAAACTTTAGAACACGAAAGAGTGCTATCCTTCATGCCTCCTGACAGCCTGTCTTTTATTGCTGATATCCACTAACTGGGCAGGTCTAATTTTAAAATGCTTTGGTAAACATTTCTAGGACTTCTTCGCATCGCGGGGGTGGGGAGGTCACAGAACAGGGTTGTTAGACTCAGCACTGTGGAAGAAACAAGGATGCCCTGCATGTCAAGTCCTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCAGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTG... | pathogenic | 330,529 |
Gene mutation in PHKA2 (phosphorylase kinase regulatory subunit alpha 2) at chromosome X, position 18897232—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glycogen_storage_disease_IXa1'] | CCGTGGCACTGGAGGCAGAATAGAGCGCATTTCAGTCAGATTCCAGAATGGGATAAGCACATGCATGCACACACAGGCGTGCATGCACACACAGCACCCTCTGCCCTGGAAACCCATATGAGGGCTGGGACACGCCAGACTGTCAGAGTTATTTTTAGAGAGCTTGTTCTCACTGCCCACAGGCTGTGTTTTCGATGGAACAATTCTAGGGAACCCAGCAGGCATCTTTCAGATCTCCCCCGAACAATGCCCTAGGGGGCTGCCGAGTCCTCCCGGGAGGCTCCGCATTGTACTTGGCAACTGGGCCCGGGCGGCTGCGA... | CCGTGGCACTGGAGGCAGAATAGAGCGCATTTCAGTCAGATTCCAGAATGGGATAAGCACATGCATGCACACACAGGCGTGCATGCACACACAGCACCCTCTGCCCTGGAAACCCATATGAGGGCTGGGACACGCCAGACTGTCAGAGTTATTTTTAGAGAGCTTGTTCTCACTGCCCACAGGCTGTGTTTTCGATGGAACAATTCTAGGGAACCCAGCAGGCATCTTTCAGATCTCCCCCGAACAATGCCCTAGGGGGCTGCCGAGTCCTCCCGGGAGGCTCCGCATTGTACTTGGCAACTGGGCCCGGGCGGCTGCGA... | pathogenic | 330,548 |
Clinical classification of chromosome X, position 19346494, gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1): benign or pathogenic? Disease(s) if pathogenic? | benign | TTTCGGATCTTCTAACTTAATTTCTCTTGACCGAGAGGCTTTGTAATAGCGTAGAATCTGGAGACAGGGTGGCTTCGTTCAAACAGCACCCTCACCATTGACTAGCCCTGTGACCTTGAGCAAGTTTTTAAACGTCCCGGGGACCCGGTTTCCTAAAATGTTTGCTCGAAGTGGAGTTAATCTCTAAATGGAGATAAGAGTTATCTCTGAAATGTTATCAGTTAACTCTAAAATGGAGATAATAAGAGTCCCCACCTCTTGGGGTTGTCTTGAGGATTCAACGAGTGACACGTGTGGAAACGATTCCAAATAGCACCTGG... | TTTCGGATCTTCTAACTTAATTTCTCTTGACCGAGAGGCTTTGTAATAGCGTAGAATCTGGAGACAGGGTGGCTTCGTTCAAACAGCACCCTCACCATTGACTAGCCCTGTGACCTTGAGCAAGTTTTTAAACGTCCCGGGGACCCGGTTTCCTAAAATGTTTGCTCGAAGTGGAGTTAATCTCTAAATGGAGATAAGAGTTATCTCTGAAATGTTATCAGTTAACTCTAAAATGGAGATAATAAGAGTCCCCACCTCTTGGGGTTGTCTTGAGGATTCAACGAGTGACACGTGTGGAAACGATTCCAAATAGCACCTGG... | benign | 330,625 |
Regarding the variant at chromosome X and position 19355529, affecting gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAACCTCTAGCAGTGGAGCCATACCTTCCCCTTCCTATTTATATTTCAGTACATTAATT... | GCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAACCTCTAGCAGTGGAGCCATACCTTCCCCTTCCTATTTATATTTCAGTACATTAATT... | benign | 330,674 |
Clinical significance of chromosome X, position 19355529, gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAACCTCTAGCAGTGGAGCCATACCTTCCCCTTCCTATTTATATTTCAGTACATTAATT... | GCTCTACTATACAGCCTAGGTGTGCAGTGGGCTGTACCATCTAGGTTCGTGCATTACAGTATGGTGTTCACATGACAAAATCGCCTAGTGATGCAATTCTGAGAATATATCCCTGTTGTTAAGTGACGCGTGACTATTTTGGGGGCTTGGTTTGCTTTTAAAGACCTAGTGCTTCATATCCTACCGTTTGAGAGATGAGTAGATTTGGATGGTGATTTATAATGTTTCCTTTTAGGTGTCTGCTGTTTTATAAGTAAGCAGGAACCTCTAGCAGTGGAGCCATACCTTCCCCTTCCTATTTATATTTCAGTACATTAATT... | benign | 330,675 |
The mutation impacting PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) on chromosome X at position 19357675: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Pyruvate_dehydrogenase_E1-alpha_deficiency'] | AAGTAAAATGGTTTGGGGCAGTTGGATTCATGCTTCGCCCCTCCCCTGTTTATTACCAGGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAGGTAAGGCTCTAAAGCCCTCTGGGCTAGTGACATTTATCTCTGGAAGTTCAAAGACTGCCTCCCATGTGCCTGCTGAAGCTGTTAGTGGGTACCTGCTAATTGAGGTGCATGAGATGGAAGCAGAGTGAAGGGAGCAGGGCTCCTTTGGGTAGCTTGGTCTTGGTAGCTCACCTGCTGGGAAGCCTACGT... | AAGTAAAATGGTTTGGGGCAGTTGGATTCATGCTTCGCCCCTCCCCTGTTTATTACCAGGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAGGTAAGGCTCTAAAGCCCTCTGGGCTAGTGACATTTATCTCTGGAAGTTCAAAGACTGCCTCCCATGTGCCTGCTGAAGCTGTTAGTGGGTACCTGCTAATTGAGGTGCATGAGATGGAAGCAGAGTGAAGGGAGCAGGGCTCCTTTGGGTAGCTTGGTCTTGGTAGCTCACCTGCTGGGAAGCCTACGT... | pathogenic | 330,689 |
Gene mutation in PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) at chromosome X, position 19358940—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Pyruvate_dehydrogenase_E1-alpha_deficiency'] | CAGTGTTCAGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCTTGACCTTCCAGAATCAGGTG... | CAGTGTTCAGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCTTGACCTTCCAGAATCAGGTG... | pathogenic | 330,700 |
Considering the genetic mutation at chromosome X, position 19358945, impacting PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Pyruvate_dehydrogenase_E1-alpha_deficiency', 'Pyruvate_dehydrogenase_complex_deficiency'] | TTCAGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCTTGACCTTCCAGAATCAGGTGATCCT... | TTCAGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCTTGACCTTCCAGAATCAGGTGATCCT... | pathogenic | 330,701 |
Evaluate the clinical significance of the mutation at chromosome X, position 19358948 in gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Pyruvate_dehydrogenase_E1-alpha_deficiency'] | AGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCTTGACCTTCCAGAATCAGGTGATCCTCCC... | AGAGCCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCTTGACCTTCCAGAATCAGGTGATCCTCCC... | pathogenic | 330,702 |
Is the genetic variant on chromosome X, position 19358952, gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Pyruvate_dehydrogenase_E1-alpha_deficiency'] | CCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCTTGACCTTCCAGAATCAGGTGATCCTCCCAAGT... | CCGTCTCCTGGAAGTGGGCTAGTGTAGAATGAGCGAGCCCAACTGTCCAGACTCCCAGCAGAGCCTTGGGGTTTGGGTAGCAGAGGTTGTTGGTGCCTGCCAACTTTGTTACACACTAGCAAGGTCTGTGAAGTAGGAGTGGCTGCCAGCCCCACAACACACCATGAGAAAGGAGCATGAGATGGAAATCTGTCTAGCCAATAGCAGGAGGCTCTAGAACATGCTCAGAGCCTTTTTCTTTTTTCACAGGGTCTCGCGCAGTGGCACACTCACAGCTCACTGCACCCTTGACCTTCCAGAATCAGGTGATCCTCCCAAGT... | pathogenic | 330,703 |
Is the variant located on chromosome X at position 19359486, gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Pyruvate_dehydrogenase_E1-alpha_deficiency'] | CTTATTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGCTAGAAATGAGAACAGATCAGTCAACCAATAAGAAATTCGTGACAACTCAGAAGATCTGATAAGACTACACTGGACGCTTAATAAAGGGCCTGCGTTTGAGGCCGTGGATTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGC... | CTTATTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGCTAGAAATGAGAACAGATCAGTCAACCAATAAGAAATTCGTGACAACTCAGAAGATCTGATAAGACTACACTGGACGCTTAATAAAGGGCCTGCGTTTGAGGCCGTGGATTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGC... | pathogenic | 330,706 |
Variant chromosome X, position 19359512, gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1): benign or pathogenic? Disease(s)? | pathogenic; ['Pyruvate_dehydrogenase_E1-alpha_deficiency'] | ATGCAATCAATACTTGCTAGAAATGAGAACAGATCAGTCAACCAATAAGAAATTCGTGACAACTCAGAAGATCTGATAAGACTACACTGGACGCTTAATAAAGGGCCTGCGTTTGAGGCCGTGGATTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGCTTTGAATGGTGTTACATGGCAAAAGC... | ATGCAATCAATACTTGCTAGAAATGAGAACAGATCAGTCAACCAATAAGAAATTCGTGACAACTCAGAAGATCTGATAAGACTACACTGGACGCTTAATAAAGGGCCTGCGTTTGAGGCCGTGGATTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGCTTTGAATGGTGTTACATGGCAAAAGC... | pathogenic | 330,707 |
Is the genetic mutation found on chromosome X at position 19359513, within the gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Pyruvate_dehydrogenase_E1-alpha_deficiency'] | TGCAATCAATACTTGCTAGAAATGAGAACAGATCAGTCAACCAATAAGAAATTCGTGACAACTCAGAAGATCTGATAAGACTACACTGGACGCTTAATAAAGGGCCTGCGTTTGAGGCCGTGGATTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGCTTTGAATGGTGTTACATGGCAAAAGCA... | TGCAATCAATACTTGCTAGAAATGAGAACAGATCAGTCAACCAATAAGAAATTCGTGACAACTCAGAAGATCTGATAAGACTACACTGGACGCTTAATAAAGGGCCTGCGTTTGAGGCCGTGGATTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGCTTTGAATGGTGTTACATGGCAAAAGCA... | pathogenic | 330,708 |
Determine if the mutation at chromosome X, position 19359619 in gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Pyruvate_dehydrogenase_E1-alpha_deficiency', 'Pyruvate_dehydrogenase_complex_deficiency'] | TGCGTTTGAGGCCGTGGATTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGCTTTGAATGGTGTTACATGGCAAAAGCAACACATTTCAGTATTTGCTTTTGGAGCTAGATACCAGTTCACTTCATGTACGCAGTTGTGTTGGGCATCAAGTTATCTGAAAGCAGTGCCTCCTAATAAGAAAGCT... | TGCGTTTGAGGCCGTGGATTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGCTTTGAATGGTGTTACATGGCAAAAGCAACACATTTCAGTATTTGCTTTTGGAGCTAGATACCAGTTCACTTCATGTACGCAGTTGTGTTGGGCATCAAGTTATCTGAAAGCAGTGCCTCCTAATAAGAAAGCT... | pathogenic | 330,715 |
Does the genetic variant at chromosome X, position 19359637, impacting gene PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Pyruvate_dehydrogenase_E1-alpha_deficiency'] | TTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGCTTTGAATGGTGTTACATGGCAAAAGCAACACATTTCAGTATTTGCTTTTGGAGCTAGATACCAGTTCACTTCATGTACGCAGTTGTGTTGGGCATCAAGTTATCTGAAAGCAGTGCCTCCTAATAAGAAAGCTTTCTGAAAATGCCTACAG... | TTGCCGGCCTGTTCTTCCAGTCATCGTTCCTAACTAACTAACTGCCTACCGGTTCTGTTTTAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGGTACGCTCATGGGCAGTGTGGTTTCCATAGGGGTGGGCTTTGAATGGTGTTACATGGCAAAAGCAACACATTTCAGTATTTGCTTTTGGAGCTAGATACCAGTTCACTTCATGTACGCAGTTGTGTTGGGCATCAAGTTATCTGAAAGCAGTGCCTCCTAATAAGAAAGCTTTCTGAAAATGCCTACAG... | pathogenic | 330,717 |
Is the genetic variant on chromosome X, position 20172791, gene RPS6KA3 (ribosomal protein S6 kinase A3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Intellectual_disability,_X-linked_19'] | CTGGGACCACAGGCACATACCACTACACTCAGAAAATTTTAAAAATTATTTGTAGAGATGAGGTCTGGCTATGTTGCCAAGGCTAGAGTACAGTGGCACATAGCTCACTGCAGCCTGAACCTCCTGAGCTCAAGCAATCCTTCCGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGTAGCCACGCCTGGCTAATTTTTAAACAATTTTTCTGTAGAGATAGGGTCTTGCTCTGTTGCCCAGGCTTGTCTCAAACTCCTGGCCTCAAGCAATCCTCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACGTGA... | CTGGGACCACAGGCACATACCACTACACTCAGAAAATTTTAAAAATTATTTGTAGAGATGAGGTCTGGCTATGTTGCCAAGGCTAGAGTACAGTGGCACATAGCTCACTGCAGCCTGAACCTCCTGAGCTCAAGCAATCCTTCCGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGTAGCCACGCCTGGCTAATTTTTAAACAATTTTTCTGTAGAGATAGGGTCTTGCTCTGTTGCCCAGGCTTGTCTCAAACTCCTGGCCTCAAGCAATCCTCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACGTGA... | pathogenic | 330,767 |
Chromosome X, position 20177039, gene RPS6KA3 (ribosomal protein S6 kinase A3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Coffin-Lowry_syndrome', 'Intellectual_disability,_X-linked_19'] | TGATCCAACTGCCTTGGCCTCCCAAAGTGCTGGGATTACGGGTGTGAGCCACTATGCCCAGTCTAAAATGTATTTTAAATTGCTCACTTGAAGTCAGTAGAAAAAGATCTATTCACAGAATGAACTATATCTTACAACATTCCAAATCTAAAATTATTTAGACATCCACTCACCTGAACAATTGAATGTACACCAACTGTCTGCATAGCTTGGCTTTCATCATCTGAGGTAATAGCAACAAAACTAAACCCCCGAAAAAGCTGATGTGCATTAGCACTAGGTGGAATGCCAGGTGAATCTGAAAAGAGTAAGAAGTGACA... | TGATCCAACTGCCTTGGCCTCCCAAAGTGCTGGGATTACGGGTGTGAGCCACTATGCCCAGTCTAAAATGTATTTTAAATTGCTCACTTGAAGTCAGTAGAAAAAGATCTATTCACAGAATGAACTATATCTTACAACATTCCAAATCTAAAATTATTTAGACATCCACTCACCTGAACAATTGAATGTACACCAACTGTCTGCATAGCTTGGCTTTCATCATCTGAGGTAATAGCAACAAAACTAAACCCCCGAAAAAGCTGATGTGCATTAGCACTAGGTGGAATGCCAGGTGAATCTGAAAAGAGTAAGAAGTGACA... | pathogenic | 330,779 |
Does the variant impacting RPS6KA3 (ribosomal protein S6 kinase A3) on chromosome X, position 20188484, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAAAAAAAAGCATCATTTTAATTATAACCAAATATTCTAAAATTGCTACATAACAAGTGTTTTCTATTTCTACCATATTCGTTACTGAAGTTCTTGATAATTCCTAAAACAACTGAGCTATACAGTTTTTTTTTTTTTGTAGAAATCAATCACATTTTTATTTTATTTTTTTTTTGAGACAGGGCCTGGCTCTGTTGCCCAGGCTGGAGCCCAGTGGTGCAATCTCAGCTCACTGAAGCTTCCATCTCCTGGGCTCAAGCAATTCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTAGAGGCATGGGCCACCATGCTCAG... | AAAAAAAAAGCATCATTTTAATTATAACCAAATATTCTAAAATTGCTACATAACAAGTGTTTTCTATTTCTACCATATTCGTTACTGAAGTTCTTGATAATTCCTAAAACAACTGAGCTATACAGTTTTTTTTTTTTTGTAGAAATCAATCACATTTTTATTTTATTTTTTTTTTGAGACAGGGCCTGGCTCTGTTGCCCAGGCTGGAGCCCAGTGGTGCAATCTCAGCTCACTGAAGCTTCCATCTCCTGGGCTCAAGCAATTCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTAGAGGCATGGGCCACCATGCTCAG... | benign | 330,786 |
Variant chromosome X, position 20193481, gene RPS6KA3 (ribosomal protein S6 kinase A3): benign or pathogenic? Disease(s)? | pathogenic; ['Coffin-Lowry_syndrome', 'Intellectual_disability,_X-linked_19'] | GAGGAATCGCCACACTGTCTTCCACAATGGTTGAACTAATTAACACTCCCACCAACAGTGTAAAAGCGGTACTATTTCTCCACATCCTCTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGCGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTAATGACCAGGGATGATGAGCTTTTCTTTCATATGTTTGTTTGCCACATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCGAGAGAAATATTCAAAATTCTTAATATGATGGTTGTACAACTCTGTGAATATACTAA... | GAGGAATCGCCACACTGTCTTCCACAATGGTTGAACTAATTAACACTCCCACCAACAGTGTAAAAGCGGTACTATTTCTCCACATCCTCTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGCGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTAATGACCAGGGATGATGAGCTTTTCTTTCATATGTTTGTTTGCCACATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCGAGAGAAATATTCAAAATTCTTAATATGATGGTTGTACAACTCTGTGAATATACTAA... | pathogenic | 330,787 |
Regarding the variant at chromosome X and position 21601291, affecting gene CNKSR2 (connector enhancer of kinase suppressor of Ras 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Intellectual_disability,_X-linked,_syndromic,_Houge_type'] | AGCAAGCCCCTTTTTAGTTTCCTAATTTATTTCTTAAGGACCTCTTTGTTCTTTACATTTCTGATAAGATGAAATTTCAGTGTTTTTTTTTGTTTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATGTCAGCTCACTGCAACTTCCGCCTCCCAATTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTGTATTTAGTAGAGACTGGGTTTCA... | AGCAAGCCCCTTTTTAGTTTCCTAATTTATTTCTTAAGGACCTCTTTGTTCTTTACATTTCTGATAAGATGAAATTTCAGTGTTTTTTTTTGTTTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATGTCAGCTCACTGCAACTTCCGCCTCCCAATTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTGTATTTAGTAGAGACTGGGTTTCA... | pathogenic | 330,803 |
Evaluate the clinical significance of the mutation at chromosome X, position 21601324 in gene CNKSR2 (connector enhancer of kinase suppressor of Ras 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic | TTAAGGACCTCTTTGTTCTTTACATTTCTGATAAGATGAAATTTCAGTGTTTTTTTTTGTTTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATGTCAGCTCACTGCAACTTCCGCCTCCCAATTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTGTATTTAGTAGAGACTGGGTTTCACCGTGTTGGTGAGGCTGGTTTCGAACTCCTGAA... | TTAAGGACCTCTTTGTTCTTTACATTTCTGATAAGATGAAATTTCAGTGTTTTTTTTTGTTTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATGTCAGCTCACTGCAACTTCCGCCTCCCAATTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTGTATTTAGTAGAGACTGGGTTTCACCGTGTTGGTGAGGCTGGTTTCGAACTCCTGAA... | pathogenic | 330,804 |
The genetic variant at chromosome X, position 21609559, affecting gene CNKSR2 (connector enhancer of kinase suppressor of Ras 2): benign or pathogenic? Disease name(s) if pathogenic? | benign | TTCCATGGTCAGGCCGGGCATGGTAGCTCACGCGTCTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCGAAAGCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCTTGAACTTGGGAGGTGGAGGTTGCAGTGATCCAAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGTGTCTCAAAATAATAATAATAATAATAATATTC... | TTCCATGGTCAGGCCGGGCATGGTAGCTCACGCGTCTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCGAAAGCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCTTGAACTTGGGAGGTGGAGGTTGCAGTGATCCAAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGTGTCTCAAAATAATAATAATAATAATAATATTC... | benign | 330,809 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 22033019, gene PHEX (phosphate regulating endopeptidase X-linked): what disease(s) if pathogenic? | pathogenic | ATGTCGATGTTGGAGCTGCAACATTGAACATGGTTCCTGACTTTGTGGAACTCATGGTCTAAGATGTGTTCTAGAGTGAGGTCCAAAAACTCTTGGGAGAATCCCATACTAGGGGCCAAAGTCCTGCTAGGGTGTGTTATGGAATAACAGCAACAAAATAATGTCAACAGCCAATGAGCACAGGATAACTACAACACACCATGATGTCATAACTTGGACAAAGGCTTGTGACCCCCTGACTTTGGCGCAACATGAAATGAGCAGAAAGTAAGGTATATTATGGAATAAGCCCCAAAACTTGAGAGAATCCCATGCTAAGG... | ATGTCGATGTTGGAGCTGCAACATTGAACATGGTTCCTGACTTTGTGGAACTCATGGTCTAAGATGTGTTCTAGAGTGAGGTCCAAAAACTCTTGGGAGAATCCCATACTAGGGGCCAAAGTCCTGCTAGGGTGTGTTATGGAATAACAGCAACAAAATAATGTCAACAGCCAATGAGCACAGGATAACTACAACACACCATGATGTCATAACTTGGACAAAGGCTTGTGACCCCCTGACTTTGGCGCAACATGAAATGAGCAGAAAGTAAGGTATATTATGGAATAAGCCCCAAAACTTGAGAGAATCCCATGCTAAGG... | pathogenic | 330,852 |
Gene PHEX (phosphate regulating endopeptidase X-linked) variant at chromosome X, position 22033032—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | AGCTGCAACATTGAACATGGTTCCTGACTTTGTGGAACTCATGGTCTAAGATGTGTTCTAGAGTGAGGTCCAAAAACTCTTGGGAGAATCCCATACTAGGGGCCAAAGTCCTGCTAGGGTGTGTTATGGAATAACAGCAACAAAATAATGTCAACAGCCAATGAGCACAGGATAACTACAACACACCATGATGTCATAACTTGGACAAAGGCTTGTGACCCCCTGACTTTGGCGCAACATGAAATGAGCAGAAAGTAAGGTATATTATGGAATAAGCCCCAAAACTTGAGAGAATCCCATGCTAAGGGCTTAAGCCCTGA... | AGCTGCAACATTGAACATGGTTCCTGACTTTGTGGAACTCATGGTCTAAGATGTGTTCTAGAGTGAGGTCCAAAAACTCTTGGGAGAATCCCATACTAGGGGCCAAAGTCCTGCTAGGGTGTGTTATGGAATAACAGCAACAAAATAATGTCAACAGCCAATGAGCACAGGATAACTACAACACACCATGATGTCATAACTTGGACAAAGGCTTGTGACCCCCTGACTTTGGCGCAACATGAAATGAGCAGAAAGTAAGGTATATTATGGAATAAGCCCCAAAACTTGAGAGAATCCCATGCTAAGGGCTTAAGCCCTGA... | pathogenic | 330,853 |
Is the chromosome X, position 22038535 variant in PHEX (phosphate regulating endopeptidase X-linked) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | TTAGCTATTTTGTTTTTTAAAATAAGGCTAGGATCAAGAAGGTATTGTCCAGAATTATAAAAATATTATTTACAATAAAGCTTATTTTTGCATTATATAAAAGAACACATGCTCACTAAAGAACATTAGGTCAACATATAAAAATTGACTGATGGGGAAAATTCCCCCTGAGGTTCTGCCACCCAGGCATATTGGAATATTGCACACTAATCTTTATGCTGCCCATATATATTTTTTTACATAACTTTTTTTTTTTTTTTGCTTTATACAGAAATCAAAACACACCTTTTTGCTAAGAAACTTATTTTCTTAAAAACAGG... | TTAGCTATTTTGTTTTTTAAAATAAGGCTAGGATCAAGAAGGTATTGTCCAGAATTATAAAAATATTATTTACAATAAAGCTTATTTTTGCATTATATAAAAGAACACATGCTCACTAAAGAACATTAGGTCAACATATAAAAATTGACTGATGGGGAAAATTCCCCCTGAGGTTCTGCCACCCAGGCATATTGGAATATTGCACACTAATCTTTATGCTGCCCATATATATTTTTTTACATAACTTTTTTTTTTTTTTTGCTTTATACAGAAATCAAAACACACCTTTTTGCTAAGAAACTTATTTTCTTAAAAACAGG... | pathogenic | 330,861 |
Considering the genetic mutation at chromosome X, position 22047062, impacting PHEX (phosphate regulating endopeptidase X-linked): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | GCTAGTGTTTTTTTTTTGTGTGTGTGTGTGTGTTGTTGGGGGAGGTTTGAAAATGGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGG... | GCTAGTGTTTTTTTTTTGTGTGTGTGTGTGTGTTGTTGGGGGAGGTTTGAAAATGGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGG... | pathogenic | 330,865 |
Clinically, how would you classify the variant at chromosome X, position 22047080, gene PHEX (phosphate regulating endopeptidase X-linked): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | TGTGTGTGTGTGTGTTGTTGGGGGAGGTTTGAAAATGGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAA... | TGTGTGTGTGTGTGTTGTTGGGGGAGGTTTGAAAATGGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAA... | pathogenic | 330,866 |
Considering the variant on chromosome X, location 22076399, involving gene PHEX (phosphate regulating endopeptidase X-linked), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | AAAAGCCAAATTCTGGTACAGAAACCAGAATTTTGACATATACAAATTATTGATATTTGTGCATGGTTAGTGTTTTGGGATTGCCCTATTTAGCATCTGCTGATCCTCTTTTTCCCTCCCTGTGATAGATAGCATGCCTTGGAAGCAGACACAGGTAAATATTTAATGCTTTTAGTTTTTTTTGCTCCTGTGGCTTGTTTGGCCCTTAGGGCATTCATGTTTTTTAGCCTGTGGAGTGCTTATAGCATCAGAACATCATCACAACCCTAAATGAAATTTGGATTATTTACTTCTAAGTATGTTTCCCAAATAGTCTAATG... | AAAAGCCAAATTCTGGTACAGAAACCAGAATTTTGACATATACAAATTATTGATATTTGTGCATGGTTAGTGTTTTGGGATTGCCCTATTTAGCATCTGCTGATCCTCTTTTTCCCTCCCTGTGATAGATAGCATGCCTTGGAAGCAGACACAGGTAAATATTTAATGCTTTTAGTTTTTTTTGCTCCTGTGGCTTGTTTGGCCCTTAGGGCATTCATGTTTTTTAGCCTGTGGAGTGCTTATAGCATCAGAACATCATCACAACCCTAAATGAAATTTGGATTATTTACTTCTAAGTATGTTTCCCAAATAGTCTAATG... | pathogenic | 330,879 |
Variant at chromosome X, position 22090443, gene PHEX (phosphate regulating endopeptidase X-linked): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | TTCCAAAGTGGCTGTGCCATTTTGCATTCTTACCAGTAATACATGAGTGATCCAACTTTTCCACGTCCCCACCAGCAGTTGTCAGATTTTTTTTTCCATTTTAACAGATCTATGGTAGTGTTTTATTGTGGGTTTAATTTACATTTTCCTAATGACTAATGATGTTGGGCATATTTTCGTGTTCTTATTTTCTATCTTCATATGTTCTTTGATGAAGTGTCTGTTAGAATCGTTTGCTCAATTTTAAATTGAGTTGTTTCTTTTCTTATGGTTGAGTTTTGAGGAATCTTTATGTATTCTAGATACACGTCCTTTGTCAT... | TTCCAAAGTGGCTGTGCCATTTTGCATTCTTACCAGTAATACATGAGTGATCCAACTTTTCCACGTCCCCACCAGCAGTTGTCAGATTTTTTTTTCCATTTTAACAGATCTATGGTAGTGTTTTATTGTGGGTTTAATTTACATTTTCCTAATGACTAATGATGTTGGGCATATTTTCGTGTTCTTATTTTCTATCTTCATATGTTCTTTGATGAAGTGTCTGTTAGAATCGTTTGCTCAATTTTAAATTGAGTTGTTTCTTTTCTTATGGTTGAGTTTTGAGGAATCTTTATGTATTCTAGATACACGTCCTTTGTCAT... | pathogenic | 330,909 |
Is the variant located on chromosome X at position 22090446, gene PHEX (phosphate regulating endopeptidase X-linked), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | CAAAGTGGCTGTGCCATTTTGCATTCTTACCAGTAATACATGAGTGATCCAACTTTTCCACGTCCCCACCAGCAGTTGTCAGATTTTTTTTTCCATTTTAACAGATCTATGGTAGTGTTTTATTGTGGGTTTAATTTACATTTTCCTAATGACTAATGATGTTGGGCATATTTTCGTGTTCTTATTTTCTATCTTCATATGTTCTTTGATGAAGTGTCTGTTAGAATCGTTTGCTCAATTTTAAATTGAGTTGTTTCTTTTCTTATGGTTGAGTTTTGAGGAATCTTTATGTATTCTAGATACACGTCCTTTGTCATATA... | CAAAGTGGCTGTGCCATTTTGCATTCTTACCAGTAATACATGAGTGATCCAACTTTTCCACGTCCCCACCAGCAGTTGTCAGATTTTTTTTTCCATTTTAACAGATCTATGGTAGTGTTTTATTGTGGGTTTAATTTACATTTTCCTAATGACTAATGATGTTGGGCATATTTTCGTGTTCTTATTTTCTATCTTCATATGTTCTTTGATGAAGTGTCTGTTAGAATCGTTTGCTCAATTTTAAATTGAGTTGTTTCTTTTCTTATGGTTGAGTTTTGAGGAATCTTTATGTATTCTAGATACACGTCCTTTGTCATATA... | pathogenic | 330,910 |
Located at chromosome X position 22090488, the variant affecting gene PHEX (phosphate regulating endopeptidase X-linked)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | AGTGATCCAACTTTTCCACGTCCCCACCAGCAGTTGTCAGATTTTTTTTTCCATTTTAACAGATCTATGGTAGTGTTTTATTGTGGGTTTAATTTACATTTTCCTAATGACTAATGATGTTGGGCATATTTTCGTGTTCTTATTTTCTATCTTCATATGTTCTTTGATGAAGTGTCTGTTAGAATCGTTTGCTCAATTTTAAATTGAGTTGTTTCTTTTCTTATGGTTGAGTTTTGAGGAATCTTTATGTATTCTAGATACACGTCCTTTGTCATATATGTGATTTTCAGATATTTTCCCCATTCTGTGGCTTGTCTTTT... | AGTGATCCAACTTTTCCACGTCCCCACCAGCAGTTGTCAGATTTTTTTTTCCATTTTAACAGATCTATGGTAGTGTTTTATTGTGGGTTTAATTTACATTTTCCTAATGACTAATGATGTTGGGCATATTTTCGTGTTCTTATTTTCTATCTTCATATGTTCTTTGATGAAGTGTCTGTTAGAATCGTTTGCTCAATTTTAAATTGAGTTGTTTCTTTTCTTATGGTTGAGTTTTGAGGAATCTTTATGTATTCTAGATACACGTCCTTTGTCATATATGTGATTTTCAGATATTTTCCCCATTCTGTGGCTTGTCTTTT... | pathogenic | 330,911 |
Variant in gene PHEX (phosphate regulating endopeptidase X-linked), located at chromosome X position 22096986: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic | GGGAAACCCTGTAGTGAAAAAAATGATACTTTTTACCAAGAAAGTTTTGCGTATGTGTTGGGAATCTTTTACAAGAGAAGTTGGTAAAAATCTCGAGATGAATAAGAGTCCAAATGTTGATTGGTTTTGTTTGGCGAGGTGGTGGTGGTGTGTTGAGGTATGGAGTAGGGATGAAGGATAAGGGTAAGGAGGAATTGGTCTCTCTCTCTTTGCCGTGGTGATGTTCGTGTATAGCTCTCTCCAAACTCCTACTTGCAGTGCAAAAAGTTCATTCCTGCATGTCACCTTTGAAGACTGTGAAGACTGCTGCAGATGTTTCG... | GGGAAACCCTGTAGTGAAAAAAATGATACTTTTTACCAAGAAAGTTTTGCGTATGTGTTGGGAATCTTTTACAAGAGAAGTTGGTAAAAATCTCGAGATGAATAAGAGTCCAAATGTTGATTGGTTTTGTTTGGCGAGGTGGTGGTGGTGTGTTGAGGTATGGAGTAGGGATGAAGGATAAGGGTAAGGAGGAATTGGTCTCTCTCTCTTTGCCGTGGTGATGTTCGTGTATAGCTCTCTCCAAACTCCTACTTGCAGTGCAAAAAGTTCATTCCTGCATGTCACCTTTGAAGACTGTGAAGACTGCTGCAGATGTTTCG... | pathogenic | 330,920 |
Located at chromosome X position 22096988, the variant affecting gene PHEX (phosphate regulating endopeptidase X-linked)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | GAAACCCTGTAGTGAAAAAAATGATACTTTTTACCAAGAAAGTTTTGCGTATGTGTTGGGAATCTTTTACAAGAGAAGTTGGTAAAAATCTCGAGATGAATAAGAGTCCAAATGTTGATTGGTTTTGTTTGGCGAGGTGGTGGTGGTGTGTTGAGGTATGGAGTAGGGATGAAGGATAAGGGTAAGGAGGAATTGGTCTCTCTCTCTTTGCCGTGGTGATGTTCGTGTATAGCTCTCTCCAAACTCCTACTTGCAGTGCAAAAAGTTCATTCCTGCATGTCACCTTTGAAGACTGTGAAGACTGCTGCAGATGTTTCGAA... | GAAACCCTGTAGTGAAAAAAATGATACTTTTTACCAAGAAAGTTTTGCGTATGTGTTGGGAATCTTTTACAAGAGAAGTTGGTAAAAATCTCGAGATGAATAAGAGTCCAAATGTTGATTGGTTTTGTTTGGCGAGGTGGTGGTGGTGTGTTGAGGTATGGAGTAGGGATGAAGGATAAGGGTAAGGAGGAATTGGTCTCTCTCTCTTTGCCGTGGTGATGTTCGTGTATAGCTCTCTCCAAACTCCTACTTGCAGTGCAAAAAGTTCATTCCTGCATGTCACCTTTGAAGACTGTGAAGACTGCTGCAGATGTTTCGAA... | pathogenic | 330,921 |
The mutation impacting PHEX (phosphate regulating endopeptidase X-linked) on chromosome X at position 22099026: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | AACCAGCGAGGCCATGTACAACAAAATGAACATTTCTGAACTGAGTGCTATGATTCCCCAGGTTGGTGAAAACTATCCAGAAAACTTTCTCTCAACTCATCATTTTAGAAGGGATTGGATTTCATCTCTGTGTAAATTTGTGTCTTGTAAAACCTGCTCTCAGTCTTGGTTATCATCATCTTTGTCAACAATCACATAAAATATCCCTTGTCTGTGTATTGGGATGCCTTCTGTTACAGGGAACAAAACATCTTTCCAACAGTGGCTTAGAAACTTAAAGCCTATATTCTCACATGACAAAAGTCTAGACATAGGTAATT... | AACCAGCGAGGCCATGTACAACAAAATGAACATTTCTGAACTGAGTGCTATGATTCCCCAGGTTGGTGAAAACTATCCAGAAAACTTTCTCTCAACTCATCATTTTAGAAGGGATTGGATTTCATCTCTGTGTAAATTTGTGTCTTGTAAAACCTGCTCTCAGTCTTGGTTATCATCATCTTTGTCAACAATCACATAAAATATCCCTTGTCTGTGTATTGGGATGCCTTCTGTTACAGGGAACAAAACATCTTTCCAACAGTGGCTTAGAAACTTAAAGCCTATATTCTCACATGACAAAAGTCTAGACATAGGTAATT... | pathogenic | 330,929 |
Evaluate this variant at chromosome X, position 22099052, gene PHEX (phosphate regulating endopeptidase X-linked): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hypophosphatemic_rickets'] | TGAACATTTCTGAACTGAGTGCTATGATTCCCCAGGTTGGTGAAAACTATCCAGAAAACTTTCTCTCAACTCATCATTTTAGAAGGGATTGGATTTCATCTCTGTGTAAATTTGTGTCTTGTAAAACCTGCTCTCAGTCTTGGTTATCATCATCTTTGTCAACAATCACATAAAATATCCCTTGTCTGTGTATTGGGATGCCTTCTGTTACAGGGAACAAAACATCTTTCCAACAGTGGCTTAGAAACTTAAAGCCTATATTCTCACATGACAAAAGTCTAGACATAGGTAATTGTTGGCATTGGCTCAGCTGTTTAACA... | TGAACATTTCTGAACTGAGTGCTATGATTCCCCAGGTTGGTGAAAACTATCCAGAAAACTTTCTCTCAACTCATCATTTTAGAAGGGATTGGATTTCATCTCTGTGTAAATTTGTGTCTTGTAAAACCTGCTCTCAGTCTTGGTTATCATCATCTTTGTCAACAATCACATAAAATATCCCTTGTCTGTGTATTGGGATGCCTTCTGTTACAGGGAACAAAACATCTTTCCAACAGTGGCTTAGAAACTTAAAGCCTATATTCTCACATGACAAAAGTCTAGACATAGGTAATTGTTGGCATTGGCTCAGCTGTTTAACA... | pathogenic | 330,930 |
Determine whether the variant at chromosome X, position 22099052, in gene PHEX (phosphate regulating endopeptidase X-linked) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | TGAACATTTCTGAACTGAGTGCTATGATTCCCCAGGTTGGTGAAAACTATCCAGAAAACTTTCTCTCAACTCATCATTTTAGAAGGGATTGGATTTCATCTCTGTGTAAATTTGTGTCTTGTAAAACCTGCTCTCAGTCTTGGTTATCATCATCTTTGTCAACAATCACATAAAATATCCCTTGTCTGTGTATTGGGATGCCTTCTGTTACAGGGAACAAAACATCTTTCCAACAGTGGCTTAGAAACTTAAAGCCTATATTCTCACATGACAAAAGTCTAGACATAGGTAATTGTTGGCATTGGCTCAGCTGTTTAACA... | TGAACATTTCTGAACTGAGTGCTATGATTCCCCAGGTTGGTGAAAACTATCCAGAAAACTTTCTCTCAACTCATCATTTTAGAAGGGATTGGATTTCATCTCTGTGTAAATTTGTGTCTTGTAAAACCTGCTCTCAGTCTTGGTTATCATCATCTTTGTCAACAATCACATAAAATATCCCTTGTCTGTGTATTGGGATGCCTTCTGTTACAGGGAACAAAACATCTTTCCAACAGTGGCTTAGAAACTTAAAGCCTATATTCTCACATGACAAAAGTCTAGACATAGGTAATTGTTGGCATTGGCTCAGCTGTTTAACA... | pathogenic | 330,931 |
Does the chromosome X mutation at position 22099113 within gene PHEX (phosphate regulating endopeptidase X-linked) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | TCTCTCAACTCATCATTTTAGAAGGGATTGGATTTCATCTCTGTGTAAATTTGTGTCTTGTAAAACCTGCTCTCAGTCTTGGTTATCATCATCTTTGTCAACAATCACATAAAATATCCCTTGTCTGTGTATTGGGATGCCTTCTGTTACAGGGAACAAAACATCTTTCCAACAGTGGCTTAGAAACTTAAAGCCTATATTCTCACATGACAAAAGTCTAGACATAGGTAATTGTTGGCATTGGCTCAGCTGTTTAACAGTGTTGTCAAAGGCCCAAGTTCTTTCTATCTTTCCATCCTACTGTGTTTAGTGTGTTGGCT... | TCTCTCAACTCATCATTTTAGAAGGGATTGGATTTCATCTCTGTGTAAATTTGTGTCTTGTAAAACCTGCTCTCAGTCTTGGTTATCATCATCTTTGTCAACAATCACATAAAATATCCCTTGTCTGTGTATTGGGATGCCTTCTGTTACAGGGAACAAAACATCTTTCCAACAGTGGCTTAGAAACTTAAAGCCTATATTCTCACATGACAAAAGTCTAGACATAGGTAATTGTTGGCATTGGCTCAGCTGTTTAACAGTGTTGTCAAAGGCCCAAGTTCTTTCTATCTTTCCATCCTACTGTGTTTAGTGTGTTGGCT... | pathogenic | 330,935 |
Clinical classification of chromosome X, position 22099149, gene PHEX (phosphate regulating endopeptidase X-linked): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | ATCTCTGTGTAAATTTGTGTCTTGTAAAACCTGCTCTCAGTCTTGGTTATCATCATCTTTGTCAACAATCACATAAAATATCCCTTGTCTGTGTATTGGGATGCCTTCTGTTACAGGGAACAAAACATCTTTCCAACAGTGGCTTAGAAACTTAAAGCCTATATTCTCACATGACAAAAGTCTAGACATAGGTAATTGTTGGCATTGGCTCAGCTGTTTAACAGTGTTGTCAAAGGCCCAAGTTCTTTCTATCTTTCCATCCTACTGTGTTTAGTGTGTTGGCTTTTTGACTTCATGTTTGATGACTCATGGTTCCAAGG... | ATCTCTGTGTAAATTTGTGTCTTGTAAAACCTGCTCTCAGTCTTGGTTATCATCATCTTTGTCAACAATCACATAAAATATCCCTTGTCTGTGTATTGGGATGCCTTCTGTTACAGGGAACAAAACATCTTTCCAACAGTGGCTTAGAAACTTAAAGCCTATATTCTCACATGACAAAAGTCTAGACATAGGTAATTGTTGGCATTGGCTCAGCTGTTTAACAGTGTTGTCAAAGGCCCAAGTTCTTTCTATCTTTCCATCCTACTGTGTTTAGTGTGTTGGCTTTTTGACTTCATGTTTGATGACTCATGGTTCCAAGG... | pathogenic | 330,937 |
Variant chromosome X, position 22114465, gene PHEX (phosphate regulating endopeptidase X-linked): benign or pathogenic? Disease(s)? | pathogenic | CTTTGAAACAGTTTTTATTTTTCTATCAATTTAAAGTTAAGTGAATGGTGAATCTTATAAGCTATGATTTCATTCAAGAGGCATTTTAGTTATTAGAGGAACTAATAAGTATAGAAATTCTTAGTGGGCCATTACTCTGGAAGAGTAGTGCAATTATTTTGGATATGCTTTGACCCTATAAAGTCACTAGCATATAAAGTTACTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCTCGTCTC... | CTTTGAAACAGTTTTTATTTTTCTATCAATTTAAAGTTAAGTGAATGGTGAATCTTATAAGCTATGATTTCATTCAAGAGGCATTTTAGTTATTAGAGGAACTAATAAGTATAGAAATTCTTAGTGGGCCATTACTCTGGAAGAGTAGTGCAATTATTTTGGATATGCTTTGACCCTATAAAGTCACTAGCATATAAAGTTACTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCTCGTCTC... | pathogenic | 330,954 |
Is chromosome X, position 22114484, gene PHEX (phosphate regulating endopeptidase X-linked) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hypophosphatemic_rickets'] | TTTCTATCAATTTAAAGTTAAGTGAATGGTGAATCTTATAAGCTATGATTTCATTCAAGAGGCATTTTAGTTATTAGAGGAACTAATAAGTATAGAAATTCTTAGTGGGCCATTACTCTGGAAGAGTAGTGCAATTATTTTGGATATGCTTTGACCCTATAAAGTCACTAGCATATAAAGTTACTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCTCGTCTCTACAAAAAATACAAAAATT... | TTTCTATCAATTTAAAGTTAAGTGAATGGTGAATCTTATAAGCTATGATTTCATTCAAGAGGCATTTTAGTTATTAGAGGAACTAATAAGTATAGAAATTCTTAGTGGGCCATTACTCTGGAAGAGTAGTGCAATTATTTTGGATATGCTTTGACCCTATAAAGTCACTAGCATATAAAGTTACTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCTCGTCTCTACAAAAAATACAAAAATT... | pathogenic | 330,955 |
Does the genetic variant at chromosome X, position 22114524, impacting gene PHEX (phosphate regulating endopeptidase X-linked), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | AGCTATGATTTCATTCAAGAGGCATTTTAGTTATTAGAGGAACTAATAAGTATAGAAATTCTTAGTGGGCCATTACTCTGGAAGAGTAGTGCAATTATTTTGGATATGCTTTGACCCTATAAAGTCACTAGCATATAAAGTTACTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCTCGTCTCTACAAAAAATACAAAAATTAGCCGGGCATGGTGTCACGCACCTGTGGTCCCAGCTACTC... | AGCTATGATTTCATTCAAGAGGCATTTTAGTTATTAGAGGAACTAATAAGTATAGAAATTCTTAGTGGGCCATTACTCTGGAAGAGTAGTGCAATTATTTTGGATATGCTTTGACCCTATAAAGTCACTAGCATATAAAGTTACTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCTCGTCTCTACAAAAAATACAAAAATTAGCCGGGCATGGTGTCACGCACCTGTGGTCCCAGCTACTC... | pathogenic | 330,962 |
Does the chromosome X mutation at position 22133527 within gene PHEX (phosphate regulating endopeptidase X-linked) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | TCTTTTAATGTTTTTACCAAGTTGGGAAGAAATAGCTGTGAAGCTCCCCCGACCCCCTTCCATCTGCTGTTTGTTCTTATTTACATATGATGGAACCCAGCCCACTGATTTATAGCTCTGGTTCCCTCACAACTGTTATTGAACTGAAAACATAGCTGAAAACTTATTAAACAGAAAAAACTTATTTTGAGCTTCATGCTGACAATTTATTATAGAACCAAGGAAACATTTCAACGTCTTTCCTTCTAGAGTTAATGTTAACAATTGATTTACAACCCCATGCTCTCAAATGAAAAAGTTCATTCTGGGGCCAAACCCAG... | TCTTTTAATGTTTTTACCAAGTTGGGAAGAAATAGCTGTGAAGCTCCCCCGACCCCCTTCCATCTGCTGTTTGTTCTTATTTACATATGATGGAACCCAGCCCACTGATTTATAGCTCTGGTTCCCTCACAACTGTTATTGAACTGAAAACATAGCTGAAAACTTATTAAACAGAAAAAACTTATTTTGAGCTTCATGCTGACAATTTATTATAGAACCAAGGAAACATTTCAACGTCTTTCCTTCTAGAGTTAATGTTAACAATTGATTTACAACCCCATGCTCTCAAATGAAAAAGTTCATTCTGGGGCCAAACCCAG... | pathogenic | 330,966 |
Is the variant located on chromosome X at position 22133531, gene PHEX (phosphate regulating endopeptidase X-linked), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | TTAATGTTTTTACCAAGTTGGGAAGAAATAGCTGTGAAGCTCCCCCGACCCCCTTCCATCTGCTGTTTGTTCTTATTTACATATGATGGAACCCAGCCCACTGATTTATAGCTCTGGTTCCCTCACAACTGTTATTGAACTGAAAACATAGCTGAAAACTTATTAAACAGAAAAAACTTATTTTGAGCTTCATGCTGACAATTTATTATAGAACCAAGGAAACATTTCAACGTCTTTCCTTCTAGAGTTAATGTTAACAATTGATTTACAACCCCATGCTCTCAAATGAAAAAGTTCATTCTGGGGCCAAACCCAGTGTT... | TTAATGTTTTTACCAAGTTGGGAAGAAATAGCTGTGAAGCTCCCCCGACCCCCTTCCATCTGCTGTTTGTTCTTATTTACATATGATGGAACCCAGCCCACTGATTTATAGCTCTGGTTCCCTCACAACTGTTATTGAACTGAAAACATAGCTGAAAACTTATTAAACAGAAAAAACTTATTTTGAGCTTCATGCTGACAATTTATTATAGAACCAAGGAAACATTTCAACGTCTTTCCTTCTAGAGTTAATGTTAACAATTGATTTACAACCCCATGCTCTCAAATGAAAAAGTTCATTCTGGGGCCAAACCCAGTGTT... | pathogenic | 330,968 |
The genetic variant at chromosome X, position 22178312, affecting gene PHEX (phosphate regulating endopeptidase X-linked): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | GTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCATGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCACTGCTGCACTCTAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATGTATGTATATATGATTTCTTTTTATTATGAAGCATTTCAAATGTTGGAACATGAGTAAAATAATTTGAACACATCTATTTTAACACATAGTAAACATATTGCCATATTAGCTTTGTACATGCACACACACATTTTAAATGAACAGATGCATTTGAAA... | GTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCATGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCACTGCTGCACTCTAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATGTATGTATATATGATTTCTTTTTATTATGAAGCATTTCAAATGTTGGAACATGAGTAAAATAATTTGAACACATCTATTTTAACACATAGTAAACATATTGCCATATTAGCTTTGTACATGCACACACACATTTTAAATGAACAGATGCATTTGAAA... | pathogenic | 330,986 |
Variant at chromosome X, position 22178348, gene PHEX (phosphate regulating endopeptidase X-linked): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | TCGCATGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCACTGCTGCACTCTAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATGTATGTATATATGATTTCTTTTTATTATGAAGCATTTCAAATGTTGGAACATGAGTAAAATAATTTGAACACATCTATTTTAACACATAGTAAACATATTGCCATATTAGCTTTGTACATGCACACACACATTTTAAATGAACAGATGCATTTGAAATTTTGTCTGTAATCTTCCTTGATCTAATCTCCTTCC... | TCGCATGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCACTGCTGCACTCTAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATGTATGTATATATGATTTCTTTTTATTATGAAGCATTTCAAATGTTGGAACATGAGTAAAATAATTTGAACACATCTATTTTAACACATAGTAAACATATTGCCATATTAGCTTTGTACATGCACACACACATTTTAAATGAACAGATGCATTTGAAATTTTGTCTGTAATCTTCCTTGATCTAATCTCCTTCC... | pathogenic | 330,988 |
Clinically, how would you classify the variant at chromosome X, position 22178373, gene PHEX (phosphate regulating endopeptidase X-linked): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | TGCAGTGAGCTGAGATTGCACTGCTGCACTCTAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATGTATGTATATATGATTTCTTTTTATTATGAAGCATTTCAAATGTTGGAACATGAGTAAAATAATTTGAACACATCTATTTTAACACATAGTAAACATATTGCCATATTAGCTTTGTACATGCACACACACATTTTAAATGAACAGATGCATTTGAAATTTTGTCTGTAATCTTCCTTGATCTAATCTCCTTCCTCTGCGTCTATCTCCATCTCTGCAT... | TGCAGTGAGCTGAGATTGCACTGCTGCACTCTAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATGTATGTATATATGATTTCTTTTTATTATGAAGCATTTCAAATGTTGGAACATGAGTAAAATAATTTGAACACATCTATTTTAACACATAGTAAACATATTGCCATATTAGCTTTGTACATGCACACACACATTTTAAATGAACAGATGCATTTGAAATTTTGTCTGTAATCTTCCTTGATCTAATCTCCTTCCTCTGCGTCTATCTCCATCTCTGCAT... | pathogenic | 330,990 |
Is the genetic variant on chromosome X, position 22212930, gene PHEX, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | CTAAATTAAGGACTTGCTTTCCTGTCCTCATTTCTCCTCATGTGTTCTGACATGGAGGAGAGAGAGAAAAAAAAAAGTTAAGAAGAGGGAGGAAGAACATTTTGACTTATGAAAGAGCTTTCAGTCTCATGGGGCCTGGAACAGTTGCTCTGGAGCAGTGAAGGACACTACAGAAGGCTTCTCTCTCTCTTTTTGGTTATGATTCTTTGCTCTATCAGCTGTGATGACTTGTAAGTACAGTTCCTAGGATCAACCCAGGGTGCAAAATTTAGTGGTGAGTTGCAAGGGCAAAGCAAAGCATGTCTCCCACTCATCTGCAC... | CTAAATTAAGGACTTGCTTTCCTGTCCTCATTTCTCCTCATGTGTTCTGACATGGAGGAGAGAGAGAAAAAAAAAAGTTAAGAAGAGGGAGGAAGAACATTTTGACTTATGAAAGAGCTTTCAGTCTCATGGGGCCTGGAACAGTTGCTCTGGAGCAGTGAAGGACACTACAGAAGGCTTCTCTCTCTCTTTTTGGTTATGATTCTTTGCTCTATCAGCTGTGATGACTTGTAAGTACAGTTCCTAGGATCAACCCAGGGTGCAAAATTTAGTGGTGAGTTGCAAGGGCAAAGCAAAGCATGTCTCCCACTCATCTGCAC... | pathogenic | 331,007 |
Does the variant impacting PHEX on chromosome X, position 22212939, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | GGACTTGCTTTCCTGTCCTCATTTCTCCTCATGTGTTCTGACATGGAGGAGAGAGAGAAAAAAAAAAGTTAAGAAGAGGGAGGAAGAACATTTTGACTTATGAAAGAGCTTTCAGTCTCATGGGGCCTGGAACAGTTGCTCTGGAGCAGTGAAGGACACTACAGAAGGCTTCTCTCTCTCTTTTTGGTTATGATTCTTTGCTCTATCAGCTGTGATGACTTGTAAGTACAGTTCCTAGGATCAACCCAGGGTGCAAAATTTAGTGGTGAGTTGCAAGGGCAAAGCAAAGCATGTCTCCCACTCATCTGCACTCAATGTCA... | GGACTTGCTTTCCTGTCCTCATTTCTCCTCATGTGTTCTGACATGGAGGAGAGAGAGAAAAAAAAAAGTTAAGAAGAGGGAGGAAGAACATTTTGACTTATGAAAGAGCTTTCAGTCTCATGGGGCCTGGAACAGTTGCTCTGGAGCAGTGAAGGACACTACAGAAGGCTTCTCTCTCTCTTTTTGGTTATGATTCTTTGCTCTATCAGCTGTGATGACTTGTAAGTACAGTTCCTAGGATCAACCCAGGGTGCAAAATTTAGTGGTGAGTTGCAAGGGCAAAGCAAAGCATGTCTCCCACTCATCTGCACTCAATGTCA... | pathogenic | 331,008 |
Classify the chromosome X variant at position 22219099 affecting gene PHEX as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | AGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGAAAAACAGTAGGAAGCATTTTTTCAAATGCAAATTACCTTA... | AGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGAAAAACAGTAGGAAGCATTTTTTCAAATGCAAATTACCTTA... | pathogenic | 331,028 |
Mutation found at chromosome X position 22221617, gene PHEX: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | AATGCTTAATCTATATTTTTCTCTATACTGGCTTATATTCTGATTATTATTATTATTATTATCATTATTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGA... | AATGCTTAATCTATATTTTTCTCTATACTGGCTTATATTCTGATTATTATTATTATTATTATCATTATTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGA... | pathogenic | 331,034 |
Benign or pathogenic: chromosome X, position 22221622, gene PHEX variant? Disease(s) if pathogenic? | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | TTAATCTATATTTTTCTCTATACTGGCTTATATTCTGATTATTATTATTATTATTATCATTATTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACA... | TTAATCTATATTTTTCTCTATACTGGCTTATATTCTGATTATTATTATTATTATTATCATTATTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACA... | pathogenic | 331,035 |
Is the variant located on chromosome X at position 22221669, gene PHEX, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | TTATTATTATCATTATTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGCGCCTGGCCTATTCTGATTATTTTAAAGTCTAT... | TTATTATTATCATTATTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGCGCCTGGCCTATTCTGATTATTTTAAAGTCTAT... | pathogenic | 331,041 |
The mutation in gene PHEX at chromosome X, position 22221671—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | ATTATTATCATTATTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGCGCCTGGCCTATTCTGATTATTTTAAAGTCTATAC... | ATTATTATCATTATTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGCGCCTGGCCTATTCTGATTATTTTAAAGTCTATAC... | pathogenic | 331,043 |
Considering the genetic mutation at chromosome X, position 22221681, impacting PHEX: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | TTATTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGCGCCTGGCCTATTCTGATTATTTTAAAGTCTATACTTTCCTGATA... | TTATTGAGACGGAGTCTAGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGCGCCTGGCCTATTCTGATTATTTTAAAGTCTATACTTTCCTGATA... | pathogenic | 331,044 |
Clinical significance of chromosome X, position 22221696, gene PHEX: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | CTAGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGCGCCTGGCCTATTCTGATTATTTTAAAGTCTATACTTTCCTGATAATTTATATAATAGGA... | CTAGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGCGCCTGGCCTATTCTGATTATTTTAAAGTCTATACTTTCCTGATAATTTATATAATAGGA... | pathogenic | 331,045 |
Benign or pathogenic: chromosome X, position 22221701, gene PHEX variant? Disease(s) if pathogenic? | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | TCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGCGCCTGGCCTATTCTGATTATTTTAAAGTCTATACTTTCCTGATAATTTATATAATAGGATATGC... | TCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGCGCCTGGCCTATTCTGATTATTTTAAAGTCTATACTTTCCTGATAATTTATATAATAGGATATGC... | pathogenic | 331,046 |
The mutation impacting PHEX on chromosome X at position 22221725: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | GGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGCGCCTGGCCTATTCTGATTATTTTAAAGTCTATACTTTCCTGATAATTTATATAATAGGATATGCTTTGTATCCCGATGACATTTAAGC... | GGCACGATCTCGGCTCACTGCAACCTCGGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCACGTGCCACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCACATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGCGCCTGGCCTATTCTGATTATTTTAAAGTCTATACTTTCCTGATAATTTATATAATAGGATATGCTTTGTATCCCGATGACATTTAAGC... | pathogenic | 331,050 |
Regarding the variant found on chromosome X at position 22226436 in gene PHEX: is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GGATTCTGGAGCACGAACTGCACCACAGAAATTGTTCAGCCCAGGTACTGGGTTGTTCAAACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTA... | GGATTCTGGAGCACGAACTGCACCACAGAAATTGTTCAGCCCAGGTACTGGGTTGTTCAAACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTA... | benign | 331,053 |
A genetic variant on chromosome X, position 22226477, affects the gene PHEX. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic | CAGGTACTGGGTTGTTCAAACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTAAAGCAGGAATGGTAGCTTTTGTGTACTGAAGCTAGGAGGGT... | CAGGTACTGGGTTGTTCAAACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTAAAGCAGGAATGGTAGCTTTTGTGTACTGAAGCTAGGAGGGT... | pathogenic | 331,055 |
Mutation at chromosome X, position 22226478, within PHEX: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | AGGTACTGGGTTGTTCAAACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTAAAGCAGGAATGGTAGCTTTTGTGTACTGAAGCTAGGAGGGTC... | AGGTACTGGGTTGTTCAAACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTAAAGCAGGAATGGTAGCTTTTGTGTACTGAAGCTAGGAGGGTC... | pathogenic | 331,056 |
Chromosome X, position 22227526, gene PHEX: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | ATGACTTTTCTGTAAAGGGCCAGATAGTAAAGAATTGAGGCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTGGGCTGTATTAGTTTA... | ATGACTTTTCTGTAAAGGGCCAGATAGTAAAGAATTGAGGCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTGGGCTGTATTAGTTTA... | pathogenic | 331,071 |
For chromosome X, position 22227565, gene PHEX: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | GCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTGGGCTGTATTAGTTTAGAATATTTGTGTCCTAGCTCATTTAAAGTTTTGAGAAAC... | GCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTGGGCTGTATTAGTTTAGAATATTTGTGTCCTAGCTCATTTAAAGTTTTGAGAAAC... | pathogenic | 331,073 |
Clinically, how would you classify the variant at chromosome X, position 22227597, gene PHEX: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | TTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTGGGCTGTATTAGTTTAGAATATTTGTGTCCTAGCTCATTTAAAGTTTTGAGAAACAATCTTGAATATTGGGAATAATTTTTTTTACC... | TTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTGGGCTGTATTAGTTTAGAATATTTGTGTCCTAGCTCATTTAAAGTTTTGAGAAACAATCTTGAATATTGGGAATAATTTTTTTTACC... | pathogenic | 331,075 |
Considering the variant on chromosome X, location 22227599, involving gene PHEX, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | TAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTGGGCTGTATTAGTTTAGAATATTTGTGTCCTAGCTCATTTAAAGTTTTGAGAAACAATCTTGAATATTGGGAATAATTTTTTTTACCAT... | TAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTGGGCTGTATTAGTTTAGAATATTTGTGTCCTAGCTCATTTAAAGTTTTGAGAAACAATCTTGAATATTGGGAATAATTTTTTTTACCAT... | pathogenic | 331,076 |
Is the chromosome X, position 22245378 variant in PHEX clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic | TAGAAGAAAACCTGGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTGAGTGAAGGGTATGAACAGACACTTCTTAAAAGAAGACA... | TAGAAGAAAACCTGGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTGAGTGAAGGGTATGAACAGACACTTCTTAAAAGAAGACA... | pathogenic | 331,088 |
Is the variant located on chromosome X at position 22245386, gene PHEX, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets'] | AACCTGGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTGAGTGAAGGGTATGAACAGACACTTCTTAAAAGAAGACATTTATGCA... | AACCTGGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTGAGTGAAGGGTATGAACAGACACTTCTTAAAAGAAGACATTTATGCA... | pathogenic | 331,089 |
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