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 |
|---|---|---|---|---|---|
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 37810833, gene CYBB (cytochrome b-245 beta chain). What disease(s) is it linked to if pathogenic? | pathogenic; ['Granulomatous_disease,_chronic,_X-linked'] | TTTTTTAAATCAGTTATTTATTTGTATTGAAAAAGTAATTATTTTGCTTTGCAAAACTGATATCTATAGAATTATTAAATTGGAGTGCCCACCTTTCTTAACCTCCTCTATGACCATCATCCATCTAGTGAATTTCAAATCTGATTTGCTTTTTAAAAATAAATTTAATTAACCACTTTTATGAAAAATACCTGTTGCTCAAACTGAAGCCTCCTAGAATGGTAGCAGAAAAACAGTATGTGACTATATACACATATGTGCGTGCACACACACACATACACACACACTAGCTTTAGGCTTGATTTGATGTCTTATGCTAC... | TTTTTTAAATCAGTTATTTATTTGTATTGAAAAAGTAATTATTTTGCTTTGCAAAACTGATATCTATAGAATTATTAAATTGGAGTGCCCACCTTTCTTAACCTCCTCTATGACCATCATCCATCTAGTGAATTTCAAATCTGATTTGCTTTTTAAAAATAAATTTAATTAACCACTTTTATGAAAAATACCTGTTGCTCAAACTGAAGCCTCCTAGAATGGTAGCAGAAAAACAGTATGTGACTATATACACATATGTGCGTGCACACACACACATACACACACACTAGCTTTAGGCTTGATTTGATGTCTTATGCTAC... | pathogenic | 332,637 |
For chromosome X, position 37810865, gene CYBB (cytochrome b-245 beta chain): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Granulomatous_disease,_chronic,_X-linked'] | AAGTAATTATTTTGCTTTGCAAAACTGATATCTATAGAATTATTAAATTGGAGTGCCCACCTTTCTTAACCTCCTCTATGACCATCATCCATCTAGTGAATTTCAAATCTGATTTGCTTTTTAAAAATAAATTTAATTAACCACTTTTATGAAAAATACCTGTTGCTCAAACTGAAGCCTCCTAGAATGGTAGCAGAAAAACAGTATGTGACTATATACACATATGTGCGTGCACACACACACATACACACACACTAGCTTTAGGCTTGATTTGATGTCTTATGCTACCAAAGTATTGCTGCATTTTAGTCTAAAATTGT... | AAGTAATTATTTTGCTTTGCAAAACTGATATCTATAGAATTATTAAATTGGAGTGCCCACCTTTCTTAACCTCCTCTATGACCATCATCCATCTAGTGAATTTCAAATCTGATTTGCTTTTTAAAAATAAATTTAATTAACCACTTTTATGAAAAATACCTGTTGCTCAAACTGAAGCCTCCTAGAATGGTAGCAGAAAAACAGTATGTGACTATATACACATATGTGCGTGCACACACACACATACACACACACTAGCTTTAGGCTTGATTTGATGTCTTATGCTACCAAAGTATTGCTGCATTTTAGTCTAAAATTGT... | pathogenic | 332,638 |
Variant at chromosome X, position 38285634, gene RPGR (retinitis pigmentosa GTPase regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Retinal_dystrophy', 'X-linked_cone-rod_dystrophy_1'] | CTAGAAAACAATGCTTGCATGAACTACCACTTCTAAAGAGCACAAAATGTTTTTGGCCAGGGAAATGTGAAGAAATGCTATTTAAACGTGGACATATAGACCAGGTTTAATACTGAGATGGGTGTATTTTAGAACGTTGTTTCTGTATTACTGGCTGATTATCTCTTCAGTAGAAGATGAATGCTCATAGCTATTACATTAATAACTTGAGTTTAAGAGTTTCTCATTTCCCTGGAGGTTTTTTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATT... | CTAGAAAACAATGCTTGCATGAACTACCACTTCTAAAGAGCACAAAATGTTTTTGGCCAGGGAAATGTGAAGAAATGCTATTTAAACGTGGACATATAGACCAGGTTTAATACTGAGATGGGTGTATTTTAGAACGTTGTTTCTGTATTACTGGCTGATTATCTCTTCAGTAGAAGATGAATGCTCATAGCTATTACATTAATAACTTGAGTTTAAGAGTTTCTCATTTCCCTGGAGGTTTTTTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATT... | pathogenic | 332,663 |
Mutation at chromosome X, position 38285681, within RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | TGTTTTTGGCCAGGGAAATGTGAAGAAATGCTATTTAAACGTGGACATATAGACCAGGTTTAATACTGAGATGGGTGTATTTTAGAACGTTGTTTCTGTATTACTGGCTGATTATCTCTTCAGTAGAAGATGAATGCTCATAGCTATTACATTAATAACTTGAGTTTAAGAGTTTCTCATTTCCCTGGAGGTTTTTTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGT... | TGTTTTTGGCCAGGGAAATGTGAAGAAATGCTATTTAAACGTGGACATATAGACCAGGTTTAATACTGAGATGGGTGTATTTTAGAACGTTGTTTCTGTATTACTGGCTGATTATCTCTTCAGTAGAAGATGAATGCTCATAGCTATTACATTAATAACTTGAGTTTAAGAGTTTCTCATTTCCCTGGAGGTTTTTTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGT... | pathogenic | 332,664 |
Is the genetic variant on chromosome X, position 38285697, gene RPGR (retinitis pigmentosa GTPase regulator), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Macular_degeneration,_X-linked_atrophic', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | AATGTGAAGAAATGCTATTTAAACGTGGACATATAGACCAGGTTTAATACTGAGATGGGTGTATTTTAGAACGTTGTTTCTGTATTACTGGCTGATTATCTCTTCAGTAGAAGATGAATGCTCATAGCTATTACATTAATAACTTGAGTTTAAGAGTTTCTCATTTCCCTGGAGGTTTTTTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCA... | AATGTGAAGAAATGCTATTTAAACGTGGACATATAGACCAGGTTTAATACTGAGATGGGTGTATTTTAGAACGTTGTTTCTGTATTACTGGCTGATTATCTCTTCAGTAGAAGATGAATGCTCATAGCTATTACATTAATAACTTGAGTTTAAGAGTTTCTCATTTCCCTGGAGGTTTTTTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCA... | pathogenic | 332,665 |
Assess the variant on chromosome X, position 38285743, impacting RPGR (retinitis pigmentosa GTPase regulator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa_3'] | ATACTGAGATGGGTGTATTTTAGAACGTTGTTTCTGTATTACTGGCTGATTATCTCTTCAGTAGAAGATGAATGCTCATAGCTATTACATTAATAACTTGAGTTTAAGAGTTTCTCATTTCCCTGGAGGTTTTTTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCA... | ATACTGAGATGGGTGTATTTTAGAACGTTGTTTCTGTATTACTGGCTGATTATCTCTTCAGTAGAAGATGAATGCTCATAGCTATTACATTAATAACTTGAGTTTAAGAGTTTCTCATTTCCCTGGAGGTTTTTTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCA... | pathogenic | 332,667 |
A genetic variant on chromosome X, position 38285800, affects the gene RPGR (retinitis pigmentosa GTPase regulator). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Primary_ciliary_dyskinesia'] | TCAGTAGAAGATGAATGCTCATAGCTATTACATTAATAACTTGAGTTTAAGAGTTTCTCATTTCCCTGGAGGTTTTTTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCA... | TCAGTAGAAGATGAATGCTCATAGCTATTACATTAATAACTTGAGTTTAAGAGTTTCTCATTTCCCTGGAGGTTTTTTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCA... | pathogenic | 332,670 |
Gene RPGR (retinitis pigmentosa GTPase regulator) variant at chromosome X, position 38285819—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cone-rod_dystrophy', 'Macular_degeneration,_X-linked_atrophic', 'Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3', 'X-linked_cone-rod_dystrophy_1'] | CATAGCTATTACATTAATAACTTGAGTTTAAGAGTTTCTCATTTCCCTGGAGGTTTTTTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTC... | CATAGCTATTACATTAATAACTTGAGTTTAAGAGTTTCTCATTTCCCTGGAGGTTTTTTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTC... | pathogenic | 332,672 |
Evaluate the clinical significance of the mutation at chromosome X, position 38285876 in gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAA... | TTTCTTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAA... | benign | 332,673 |
Is the chromosome X, position 38285880 variant in RPGR (retinitis pigmentosa GTPase regulator) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCA... | TTTATGAATTCTGTGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCA... | benign | 332,674 |
For chromosome X, position 38285893, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | TGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTC... | TGTCATCCATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTC... | pathogenic | 332,676 |
Does the genetic variant at chromosome X, position 38285901, impacting gene RPGR (retinitis pigmentosa GTPase regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa_3'] | ATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAAT... | ATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAAT... | pathogenic | 332,677 |
Regarding the variant at chromosome X and position 38285901, affecting gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cone_dystrophy', 'Cone_dystrophy_1,_X-linked', 'Primary_ciliary_dyskinesia', 'RPGR-related_disorder', 'RPGR-related_retinopathy', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3', 'X-linked_cone-rod_dystrophy_1'] | ATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAAT... | ATCTTAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAAT... | pathogenic | 332,678 |
Does the chromosome X mutation at position 38285905 within gene RPGR (retinitis pigmentosa GTPase regulator) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cone_dystrophy', 'Primary_ciliary_dyskinesia', 'RPGR-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3', 'X-linked_cone-rod_dystrophy_1'] | TAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTC... | TAATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTC... | pathogenic | 332,679 |
Mutation found at chromosome X position 38285906, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3', 'X-linked_cone-rod_dystrophy_1'] | AATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCC... | AATTATTTTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCC... | pathogenic | 332,680 |
Clinical classification of chromosome X, position 38285913, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? Disease(s) if pathogenic? | benign | TTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAA... | TTAAATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAA... | benign | 332,681 |
Is the genetic change at chromosome X, position 38285916, within gene RPGR (retinitis pigmentosa GTPase regulator) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia'] | AATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAAC... | AATCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAAC... | pathogenic | 332,682 |
A genetic alteration at chromosome X, position 38285918, in gene RPGR (retinitis pigmentosa GTPase regulator)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa'] | TCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTA... | TCTACTTTTTAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTA... | pathogenic | 332,683 |
Evaluate this variant at chromosome X, position 38285927, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGA... | TAAATAATCATGTTCGGCACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGA... | benign | 332,684 |
Considering the genetic mutation at chromosome X, position 38285945, impacting RPGR (retinitis pigmentosa GTPase regulator): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGA... | ACATATATTTTTATCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGA... | benign | 332,686 |
The chromosome X, position 38285958 genetic variant in gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | TCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACT... | TCATAGTATTAATTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACT... | pathogenic | 332,688 |
Evaluate the clinical significance of the mutation at chromosome X, position 38285970 in gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | TTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAAT... | TTCTTTTCTACTATCCCTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAAT... | pathogenic | 332,689 |
The mutation in gene RPGR (retinitis pigmentosa GTPase regulator) at chromosome X, position 38285986—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy'] | CTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGC... | CTTAATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGC... | pathogenic | 332,690 |
Does the variant impacting RPGR (retinitis pigmentosa GTPase regulator) on chromosome X, position 38285990, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy'] | ATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACA... | ATGAATGTGGTCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACA... | pathogenic | 332,691 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 38286000, gene RPGR (retinitis pigmentosa GTPase regulator). What disease(s) is it linked to if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | TCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTAT... | TCGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTAT... | pathogenic | 332,692 |
Variant at chromosome X, position 38286001, gene RPGR (retinitis pigmentosa GTPase regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy'] | CGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATC... | CGAATTCGGTAAAGCAATGCAATGCCAAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATC... | pathogenic | 332,693 |
For chromosome X, position 38286027, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa_3'] | AAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACAC... | AAATCAGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACAC... | pathogenic | 332,694 |
Gene RPGR (retinitis pigmentosa GTPase regulator) variant at chromosome position 38286032 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa_3'] | AGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAA... | AGTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAA... | pathogenic | 332,695 |
Gene RPGR (retinitis pigmentosa GTPase regulator) variant at chromosome X, position 38286033—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | GTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAA... | GTACATTTGGTTAGTTAGGGGAAGCTGCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAA... | pathogenic | 332,696 |
Is the genetic mutation found on chromosome X at position 38286059, within the gene RPGR (retinitis pigmentosa GTPase regulator), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa_3'] | GCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCT... | GCCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCT... | pathogenic | 332,700 |
Does the chromosome X mutation at position 38286060 within gene RPGR (retinitis pigmentosa GTPase regulator) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | CCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTA... | CCAGAGATCCTTGCAGCTAAGGCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTA... | pathogenic | 332,701 |
Is the genetic mutation found on chromosome X at position 38286081, within the gene RPGR (retinitis pigmentosa GTPase regulator), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | GCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAA... | GCAAAACTTACAATTGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAA... | pathogenic | 332,703 |
The chromosome X, position 38286095 genetic variant in gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAA... | TGCTCCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAA... | benign | 332,705 |
Gene RPGR (retinitis pigmentosa GTPase regulator) variant at chromosome position 38286099 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa'] | CCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACT... | CCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACT... | pathogenic | 332,706 |
Is the genetic mutation found on chromosome X at position 38286099, within the gene RPGR (retinitis pigmentosa GTPase regulator), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy'] | CCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACT... | CCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACT... | pathogenic | 332,707 |
Does the variant impacting RPGR (retinitis pigmentosa GTPase regulator) on chromosome X, position 38286099, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | CCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACT... | CCTAGGAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACT... | pathogenic | 332,708 |
Is the variant located on chromosome X at position 38286104, gene RPGR (retinitis pigmentosa GTPase regulator), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa_3'] | GAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACA... | GAAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACA... | pathogenic | 332,710 |
Is the variant located on chromosome X at position 38286105, gene RPGR (retinitis pigmentosa GTPase regulator), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | AAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAG... | AAATCCTTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAG... | pathogenic | 332,711 |
For chromosome X, position 38286111, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinitis_pigmentosa'] | TTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATC... | TTTACTTCATACGATTCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATC... | pathogenic | 332,713 |
Variant at chromosome position 38286126, chromosome X, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Macular_degeneration,_X-linked_atrophic', 'Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa,_X-linked,_and_sinorespiratory_infections,_with_or_without_deafness', 'Retinitis_pigmentosa_3', 'X-linked_cone-rod_dystrophy_1'] | TCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATT... | TCTAGACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATT... | pathogenic | 332,714 |
Determine whether the variant at chromosome X, position 38286131, in gene RPGR (retinitis pigmentosa GTPase regulator) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | ACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGA... | ACTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGA... | pathogenic | 332,715 |
Considering the genetic mutation at chromosome X, position 38286132, impacting RPGR (retinitis pigmentosa GTPase regulator): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia'] | CTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGAC... | CTTTTTCCTCATATTCTTTCTCACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGAC... | pathogenic | 332,716 |
A genetic alteration at chromosome X, position 38286153, in gene RPGR (retinitis pigmentosa GTPase regulator)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | CACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTAT... | CACTCAGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTAT... | pathogenic | 332,718 |
Determine whether the variant at chromosome X, position 38286158, in gene RPGR (retinitis pigmentosa GTPase regulator) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTAC... | AGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTAC... | benign | 332,719 |
Is the genetic variant on chromosome X, position 38286158, gene RPGR (retinitis pigmentosa GTPase regulator), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | AGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTAC... | AGAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTAC... | pathogenic | 332,720 |
Mutation at chromosome X, position 38286159, within RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | GAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACT... | GAGAATCAACTGTGCAAAAGAACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACT... | pathogenic | 332,721 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 38286180, gene RPGR (retinitis pigmentosa GTPase regulator). What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinitis_pigmentosa'] | ACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAAC... | ACTCAACTACACAAAACTCACAGGAAGTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAAC... | pathogenic | 332,723 |
Assess the variant on chromosome X, position 38286206, impacting RPGR (retinitis pigmentosa GTPase regulator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | GTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTC... | GTTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTC... | pathogenic | 332,726 |
Determine whether the variant at chromosome X, position 38286207, in gene RPGR (retinitis pigmentosa GTPase regulator) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy'] | TTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCA... | TTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCA... | pathogenic | 332,727 |
Does the variant impacting RPGR (retinitis pigmentosa GTPase regulator) on chromosome X, position 38286207, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | TTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCA... | TTTCTCATCAAAATCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCA... | pathogenic | 332,728 |
Chromosome X, position 38286220, gene RPGR (retinitis pigmentosa GTPase regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | TCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGA... | TCCTCCTTAATAAAACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGA... | pathogenic | 332,729 |
Variant in RPGR (retinitis pigmentosa GTPase regulator), chromosome X, position 38286234—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | ACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACA... | ACTAAGTATAAGAAATCTCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACA... | pathogenic | 332,730 |
Located at chromosome X position 38286251, the variant affecting gene RPGR (retinitis pigmentosa GTPase regulator)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCT... | TCTCATGCCCAGGATATAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCT... | benign | 332,732 |
Variant at chromosome position 38286267, chromosome X, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinal_dystrophy'] | TAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTT... | TAAAAGGGACTATGAAAGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTT... | pathogenic | 332,733 |
Gene RPGR (retinitis pigmentosa GTPase regulator) variant at chromosome position 38286283 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | AGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGAT... | AGGAAATTAGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGAT... | pathogenic | 332,736 |
Variant at chromosome X, position 38286291, gene RPGR (retinitis pigmentosa GTPase regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | AGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTT... | AGTTGAAAAAGGAGCCACAAATAAACTATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTT... | pathogenic | 332,737 |
Variant at chromosome X, position 38286318, gene RPGR (retinitis pigmentosa GTPase regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa_3'] | ATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGA... | ATCAGATAAATTAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGA... | pathogenic | 332,739 |
For chromosome X, position 38286329, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGC... | TAGCTGCATTATGTACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGC... | benign | 332,740 |
Gene RPGR (retinitis pigmentosa GTPase regulator) variant at chromosome X, position 38286342—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | TACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTT... | TACACGGAAAATTTTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTT... | pathogenic | 332,742 |
Variant on chromosome X, at position 38286355, affecting RPGR (retinitis pigmentosa GTPase regulator): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_3', 'X-linked_cone-rod_dystrophy_1'] | TTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAA... | TTAAGGGACAATTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAA... | pathogenic | 332,746 |
Regarding the variant found on chromosome X at position 38286366 in gene RPGR (retinitis pigmentosa GTPase regulator): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTAT... | TTGAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTAT... | benign | 332,748 |
Is the genetic mutation found on chromosome X at position 38286368, within the gene RPGR (retinitis pigmentosa GTPase regulator), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | GAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAG... | GAAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAG... | pathogenic | 332,749 |
Evaluate this variant at chromosome X, position 38286369, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa_3'] | AAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGA... | AAATTACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGA... | pathogenic | 332,750 |
Does the genetic variant at chromosome X, position 38286373, impacting gene RPGR (retinitis pigmentosa GTPase regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'RPGR-related_retinopathy'] | TACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAAC... | TACTCTAGTGGAAATCTAGCCTCTCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAAC... | pathogenic | 332,751 |
The mutation in gene RPGR (retinitis pigmentosa GTPase regulator) at chromosome X, position 38286396—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | TCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATT... | TCTAAAATTCAGTATCTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATT... | pathogenic | 332,753 |
Does the variant on chromosome X at location 38286411 affecting gene RPGR (retinitis pigmentosa GTPase regulator) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | CTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACG... | CTAATACTAGACAGTTTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACG... | pathogenic | 332,755 |
Is the genetic change at chromosome X, position 38286426, within gene RPGR (retinitis pigmentosa GTPase regulator) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia'] | TTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATA... | TTATCTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATA... | pathogenic | 332,756 |
Clinical classification of chromosome X, position 38286430, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | CTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAA... | CTTTTCATAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAA... | pathogenic | 332,757 |
Variant in RPGR (retinitis pigmentosa GTPase regulator), chromosome X, position 38286437—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGAT... | TAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGAT... | benign | 332,758 |
Variant at chromosome position 38286437, chromosome X, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGAT... | TAAAGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGAT... | benign | 332,759 |
Determine if the mutation at chromosome X, position 38286440 in gene RPGR (retinitis pigmentosa GTPase regulator) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGA... | AGAATTTCTGACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGA... | benign | 332,760 |
Determine whether the variant at chromosome X, position 38286450, in gene RPGR (retinitis pigmentosa GTPase regulator) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | ACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGT... | ACTATATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGT... | pathogenic | 332,761 |
Regarding the variant at chromosome X and position 38286455, affecting gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | ATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAA... | ATACATTTAATTTTTTATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAA... | pathogenic | 332,763 |
Clinical significance of chromosome X, position 38286471, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa'] | ATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGA... | ATTTTACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGA... | pathogenic | 332,765 |
Evaluate this variant at chromosome X, position 38286476, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'RPGR-related_disorder', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | ACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAG... | ACTTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAG... | pathogenic | 332,766 |
Does the variant on chromosome X at location 38286478 affecting gene RPGR (retinitis pigmentosa GTPase regulator) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | TTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAA... | TTGAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAA... | pathogenic | 332,767 |
Clinical classification of chromosome X, position 38286480, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | GAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGG... | GAAACATTCTGACAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGG... | pathogenic | 332,768 |
Is the genetic mutation found on chromosome X at position 38286492, within the gene RPGR (retinitis pigmentosa GTPase regulator), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | CAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTAT... | CAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTAT... | pathogenic | 332,770 |
Variant in gene RPGR (retinitis pigmentosa GTPase regulator), located at chromosome X position 38286492: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinitis_pigmentosa_3'] | CAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTAT... | CAAGGAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTAT... | pathogenic | 332,771 |
Variant at chromosome position 38286496, chromosome X, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy'] | GAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACA... | GAACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACA... | pathogenic | 332,772 |
Clinically, how would you classify the variant at chromosome X, position 38286497, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | AACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACAT... | AACAGACAAACTGAAATTACAGAACAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACAT... | pathogenic | 332,773 |
Is chromosome X, position 38286521, gene RPGR (retinitis pigmentosa GTPase regulator) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa'] | CAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAG... | CAGTCAGTGAATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAG... | pathogenic | 332,776 |
Evaluate if the mutation on chromosome X at position 38286530 in RPGR (retinitis pigmentosa GTPase regulator) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa_3'] | AATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAA... | AATACATTGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAA... | pathogenic | 332,778 |
A genetic alteration at chromosome X, position 38286537, in gene RPGR (retinitis pigmentosa GTPase regulator)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGC... | TGAGGGCATATAACACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGC... | benign | 332,780 |
Variant in RPGR (retinitis pigmentosa GTPase regulator), chromosome X, position 38286551—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | ACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTT... | ACATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTT... | pathogenic | 332,783 |
Evaluate the clinical significance of the mutation at chromosome X, position 38286553 in gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | ATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTG... | ATACCAGAAATGAAGGCTCTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTG... | pathogenic | 332,784 |
Variant on chromosome X, at position 38286571, affecting RPGR (retinitis pigmentosa GTPase regulator): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | CTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTT... | CTGATAAAGTACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTT... | pathogenic | 332,786 |
Does the variant on chromosome X at location 38286580 affecting gene RPGR (retinitis pigmentosa GTPase regulator) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Primary_ciliary_dyskinesia'] | TACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTA... | TACAGTTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTA... | pathogenic | 332,788 |
Regarding the variant at chromosome X and position 38286585, affecting gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | TTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATAT... | TTAAAGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATAT... | pathogenic | 332,790 |
The mutation impacting RPGR (retinitis pigmentosa GTPase regulator) on chromosome X at position 38286589: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | AGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCC... | AGCTTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCC... | pathogenic | 332,793 |
Classify the chromosome X variant at position 38286592 affecting gene RPGR (retinitis pigmentosa GTPase regulator) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Macular_degeneration,_X-linked_atrophic', 'Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa,_X-linked,_and_sinorespiratory_infections,_with_or_without_deafness', 'Retinitis_pigmentosa_3', 'X-linked_cone-rod_dystrophy_1'] | TTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGA... | TTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGA... | pathogenic | 332,794 |
Gene RPGR (retinitis pigmentosa GTPase regulator) variant at chromosome position 38286592 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | TTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGA... | TTGGAAATGATAGGAGTTTAGAAATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGA... | pathogenic | 332,795 |
Variant at chromosome position 38286614, chromosome X, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | AATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACC... | AATAAAAAATTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACC... | pathogenic | 332,796 |
Does the variant on chromosome X at location 38286623 affecting gene RPGR (retinitis pigmentosa GTPase regulator) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa'] | TTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTA... | TTACAGAAGACAAGAGACGTTAAAGCTGTCATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTA... | pathogenic | 332,798 |
Is the genetic change at chromosome X, position 38286652, within gene RPGR (retinitis pigmentosa GTPase regulator) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | CATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAAC... | CATAACTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAAC... | pathogenic | 332,799 |
Mutation at chromosome X, position 38286657, within RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | CTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAA... | CTTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAA... | pathogenic | 332,801 |
The mutation in gene RPGR (retinitis pigmentosa GTPase regulator) at chromosome X, position 38286658—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | TTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAG... | TTTTCAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAG... | pathogenic | 332,803 |
Variant in RPGR (retinitis pigmentosa GTPase regulator), chromosome X, position 38286662—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGAT... | CAAGAGTAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGAT... | benign | 332,804 |
Benign or pathogenic: chromosome X, position 38286668, gene RPGR (retinitis pigmentosa GTPase regulator) variant? Disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | TAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTT... | TAAAGAAAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTT... | pathogenic | 332,806 |
Variant in RPGR (retinitis pigmentosa GTPase regulator), chromosome X, position 38286674—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | AAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGG... | AAACAACTGTATAGAAAACTAAATTAATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGG... | pathogenic | 332,807 |
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