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 |
|---|---|---|---|---|---|
Is the variant located on chromosome X at position 38286699, gene RPGR (retinitis pigmentosa GTPase regulator), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | AATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCA... | AATTTTAAAGTGTAATTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCA... | pathogenic | 332,808 |
A genetic alteration at chromosome X, position 38286714, 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'] | TTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTG... | TTTTTCTCCCTAAAACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTG... | pathogenic | 332,809 |
Variant chromosome X, position 38286727, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? Disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia'] | AACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACA... | AACGTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACA... | pathogenic | 332,810 |
Located at chromosome X position 38286730, the variant affecting gene RPGR (retinitis pigmentosa GTPase regulator)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Retinal_dystrophy'] | GTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAA... | GTTTCTTACATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAA... | pathogenic | 332,811 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 38286738, gene RPGR (retinitis pigmentosa GTPase regulator). What disease(s) is it linked to if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | CATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAA... | CATGAATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAA... | pathogenic | 332,812 |
Gene mutation in RPGR (retinitis pigmentosa GTPase regulator) at chromosome X, position 38286743—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | ATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACA... | ATAACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACA... | pathogenic | 332,815 |
Does the variant on chromosome X at location 38286745 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', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | AACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAAT... | AACAATAATGATAGAGTGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAAT... | pathogenic | 332,816 |
For chromosome X, position 38286761, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Macular_degeneration,_X-linked_atrophic', 'Primary_ciliary_dyskinesia', 'RPGR-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa,_X-linked,_and_sinorespiratory_infections,_with_or_without_deafness', 'Retinitis_pigmentosa_3', 'X-linked_cone-rod_dystrophy_1'] | TGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGT... | TGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGT... | pathogenic | 332,817 |
Evaluate this variant at chromosome X, position 38286761, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | TGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGT... | TGAATCTGTGAGAATGAAAAGAATTTAAGAGTTAGAAGGGACTGCAGTTATCACATCATCTCATCCACTCCATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGT... | pathogenic | 332,818 |
Considering the genetic mutation at chromosome X, position 38286831, impacting RPGR (retinitis pigmentosa GTPase regulator): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy'] | CATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTA... | CATTTTAGAGATGAAGAAACTGAGGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTA... | pathogenic | 332,822 |
Variant at chromosome position 38286854, chromosome X, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa'] | GGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCT... | GGCCCAATGAGTACCTTTGCCTGGACAAAAAATACTTCAAGTTTTACATATTTCCAGATTATACATTTAAATTAATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCT... | pathogenic | 332,825 |
Evaluate if the mutation on chromosome X at position 38286928 in RPGR (retinitis pigmentosa GTPase regulator) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia'] | ATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTA... | ATCACCATTTCATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTA... | pathogenic | 332,829 |
Chromosome X, position 38286939, gene RPGR (retinitis pigmentosa GTPase regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa'] | ATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTATACACAAACAA... | ATTAGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTATACACAAACAA... | pathogenic | 332,831 |
A mutation at chromosome position 38286942 on chromosome X in gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinitis_pigmentosa'] | AGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTATACACAAACAAAAC... | AGATATACTACCATCTGCCCAGATAGTAACTAAAAGAGATCACGTTTTTGGGATCTAAGCTCTGAACACAGCTGTCACTTTGTAGATTTTTGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTATACACAAACAAAAC... | pathogenic | 332,834 |
The mutation in gene RPGR (retinitis pigmentosa GTPase regulator) at chromosome X, position 38287032—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa'] | TGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTATACACAAACAAAACACTCTTGTAGTATATTCCTGTTTCCTAAAGCTGCCTTTAATGAATATATAATGTTAATAATCTGATATGACCTTTTAATATTTTCTAGTT... | TGCAAAAAGAACACATAAAAGGTGAAAGACAATACTTTCTTTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTATACACAAACAAAACACTCTTGTAGTATATTCCTGTTTCCTAAAGCTGCCTTTAATGAATATATAATGTTAATAATCTGATATGACCTTTTAATATTTTCTAGTT... | pathogenic | 332,839 |
Mutation found at chromosome X position 38287072, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_3'] | TTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTATACACAAACAAAACACTCTTGTAGTATATTCCTGTTTCCTAAAGCTGCCTTTAATGAATATATAATGTTAATAATCTGATATGACCTTTTAATATTTTCTAGTTATGTTTTTATAATTTGGGGGGGAAATACACGAAAATTTTA... | TTAAAATGTGAATGCCTCAATTGAGTTTTAGAATACCATCCATTATTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTATACACAAACAAAACACTCTTGTAGTATATTCCTGTTTCCTAAAGCTGCCTTTAATGAATATATAATGTTAATAATCTGATATGACCTTTTAATATTTTCTAGTTATGTTTTTATAATTTGGGGGGGAAATACACGAAAATTTTA... | pathogenic | 332,840 |
Is the genetic mutation found on chromosome X at position 38287117, within the gene RPGR (retinitis pigmentosa GTPase regulator), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | TTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTATACACAAACAAAACACTCTTGTAGTATATTCCTGTTTCCTAAAGCTGCCTTTAATGAATATATAATGTTAATAATCTGATATGACCTTTTAATATTTTCTAGTTATGTTTTTATAATTTGGGGGGGAAATACACGAAAATTTTAGTTTGAGAGAGGCCAAAATTTACCAGTGCCTCCTATTGTCTTTGG... | TTAGAAAATTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTATACACAAACAAAACACTCTTGTAGTATATTCCTGTTTCCTAAAGCTGCCTTTAATGAATATATAATGTTAATAATCTGATATGACCTTTTAATATTTTCTAGTTATGTTTTTATAATTTGGGGGGGAAATACACGAAAATTTTAGTTTGAGAGAGGCCAAAATTTACCAGTGCCTCCTATTGTCTTTGG... | pathogenic | 332,841 |
Benign or pathogenic: chromosome X, position 38287125, gene RPGR (retinitis pigmentosa GTPase regulator) variant? Disease(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa_3'] | TTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTATACACAAACAAAACACTCTTGTAGTATATTCCTGTTTCCTAAAGCTGCCTTTAATGAATATATAATGTTAATAATCTGATATGACCTTTTAATATTTTCTAGTTATGTTTTTATAATTTGGGGGGGAAATACACGAAAATTTTAGTTTGAGAGAGGCCAAAATTTACCAGTGCCTCCTATTGTCTTTGGCTCCTTAA... | TTATTCTATACAGTAGGTAAACTGTAATCACTAACTTAAAAAAAGTGCTAACATATTTATAAGAAATTAGAAGTTTTTATAGCCCTTAAGCATCTGTGCCATTTAAAAATGGAATGATTTGTATACACAAACAAAACACTCTTGTAGTATATTCCTGTTTCCTAAAGCTGCCTTTAATGAATATATAATGTTAATAATCTGATATGACCTTTTAATATTTTCTAGTTATGTTTTTATAATTTGGGGGGGAAATACACGAAAATTTTAGTTTGAGAGAGGCCAAAATTTACCAGTGCCTCCTATTGTCTTTGGCTCCTTAA... | pathogenic | 332,843 |
Assess the variant on chromosome X, position 38288028, impacting RPGR (retinitis pigmentosa GTPase regulator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa'] | CCTCTCCCTCTCCTTCTTCCTCCCCTTCTTCTTCCCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCCCTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCCTCCCCTTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCTCCTTCCTCCTCCCCTTTCCCTTCTCCTTCCTCCTCTTCTCCCTCCCCTTCTCCTTCCTCTTCTCCCTCCCCTTCT... | CCTCTCCCTCTCCTTCTTCCTCCCCTTCTTCTTCCCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCCCTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCCTCCCCTTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCTCCTTCCTCCTCCCCTTTCCCTTCTCCTTCCTCCTCTTCTCCCTCCCCTTCTCCTTCCTCTTCTCCCTCCCCTTCT... | pathogenic | 332,854 |
Considering the variant on chromosome X, location 38288032, involving gene RPGR (retinitis pigmentosa GTPase regulator), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TCCCTCTCCTTCTTCCTCCCCTTCTTCTTCCCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCCCTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCCTCCCCTTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCTCCTTCCTCCTCCCCTTTCCCTTCTCCTTCCTCCTCTTCTCCCTCCCCTTCTCCTTCCTCTTCTCCCTCCCCTTCTCCTT... | TCCCTCTCCTTCTTCCTCCCCTTCTTCTTCCCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCCCTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCCTCCCCTTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCTCCTTCCTCCTCCCCTTTCCCTTCTCCTTCCTCCTCTTCTCCCTCCCCTTCTCCTTCCTCTTCTCCCTCCCCTTCTCCTT... | benign | 332,855 |
Assess the variant on chromosome X, position 38297319, impacting RPGR (retinitis pigmentosa GTPase regulator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'X-linked_cone-rod_dystrophy_1'] | TTTAGCTTAAATGACAACTCCTTAGTAAGATATATCCTGATCCACTTTCCTCCATTATAAAGATTGAAGTCTGTGAATGATTTAGAAAAAGTTAAAGTATATGTTAGATACAACTTCCAAAATGTTTTCTTAAGAGAGTGTTAGCAGTCACAAAAAGACAAGAGATGGCATTTCCTTTTGATCTAGCTACAAAATCATGCATATTTTCACATTCAAATCTCTGGGACTGAGAAACAATTTTCCCTAAACCATAAATGTATTTTTTCCTTGTACACACTACATACTGCTTGCCAGAATCTACTACTTTTTCCATGTCCAGG... | TTTAGCTTAAATGACAACTCCTTAGTAAGATATATCCTGATCCACTTTCCTCCATTATAAAGATTGAAGTCTGTGAATGATTTAGAAAAAGTTAAAGTATATGTTAGATACAACTTCCAAAATGTTTTCTTAAGAGAGTGTTAGCAGTCACAAAAAGACAAGAGATGGCATTTCCTTTTGATCTAGCTACAAAATCATGCATATTTTCACATTCAAATCTCTGGGACTGAGAAACAATTTTCCCTAAACCATAAATGTATTTTTTCCTTGTACACACTACATACTGCTTGCCAGAATCTACTACTTTTTCCATGTCCAGG... | pathogenic | 332,868 |
Assess the variant on chromosome X, position 38297395, impacting RPGR (retinitis pigmentosa GTPase regulator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Macular_degeneration,_X-linked_atrophic', 'Retinitis_pigmentosa,_X-linked,_and_sinorespiratory_infections,_with_or_without_deafness', 'Retinitis_pigmentosa_3', 'X-linked_cone-rod_dystrophy_1'] | ATGATTTAGAAAAAGTTAAAGTATATGTTAGATACAACTTCCAAAATGTTTTCTTAAGAGAGTGTTAGCAGTCACAAAAAGACAAGAGATGGCATTTCCTTTTGATCTAGCTACAAAATCATGCATATTTTCACATTCAAATCTCTGGGACTGAGAAACAATTTTCCCTAAACCATAAATGTATTTTTTCCTTGTACACACTACATACTGCTTGCCAGAATCTACTACTTTTTCCATGTCCAGGGCTGAAGAGTACCATTAGACATTGATCTTATTTCAAAAGAAAACATACAAAAGTTGTGGGTCAGGTGCAAGAAATC... | ATGATTTAGAAAAAGTTAAAGTATATGTTAGATACAACTTCCAAAATGTTTTCTTAAGAGAGTGTTAGCAGTCACAAAAAGACAAGAGATGGCATTTCCTTTTGATCTAGCTACAAAATCATGCATATTTTCACATTCAAATCTCTGGGACTGAGAAACAATTTTCCCTAAACCATAAATGTATTTTTTCCTTGTACACACTACATACTGCTTGCCAGAATCTACTACTTTTTCCATGTCCAGGGCTGAAGAGTACCATTAGACATTGATCTTATTTCAAAAGAAAACATACAAAAGTTGTGGGTCAGGTGCAAGAAATC... | pathogenic | 332,873 |
Does the variant impacting RPGR (retinitis pigmentosa GTPase regulator) on chromosome X, position 38298956, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa'] | CTGAGTGACCTTGGGCAAGTCACTTGATCTCTTCAAGCCTTGCTTTTCTCATCTCTAAAATGAAGACTATAACTCCCTCCTAAGTTCATCAAGTGGTTTCAGGGTTTAAAGGGGATAAAGTTAAGGAATGTACTATAACTGTTATCCACTGCTCTATAAAGATATGCTGCTGTGGTTACATGGCAGTCTTAGGAGCACTGATGGTGCTTTCTACTTGTAAGGATATTCCCGGATTTGAGTTCAAATGAGTGATGTTAGGCTCTAACCAGGGAGAGAACAATTTAAATAACTGGAGAAAACATCTTAAGATAAACATAAAA... | CTGAGTGACCTTGGGCAAGTCACTTGATCTCTTCAAGCCTTGCTTTTCTCATCTCTAAAATGAAGACTATAACTCCCTCCTAAGTTCATCAAGTGGTTTCAGGGTTTAAAGGGGATAAAGTTAAGGAATGTACTATAACTGTTATCCACTGCTCTATAAAGATATGCTGCTGTGGTTACATGGCAGTCTTAGGAGCACTGATGGTGCTTTCTACTTGTAAGGATATTCCCGGATTTGAGTTCAAATGAGTGATGTTAGGCTCTAACCAGGGAGAGAACAATTTAAATAACTGGAGAAAACATCTTAAGATAAACATAAAA... | pathogenic | 332,880 |
For chromosome X, position 38298975, gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; [, 'X-linked_cone-rod_dystrophy_1'] | TCACTTGATCTCTTCAAGCCTTGCTTTTCTCATCTCTAAAATGAAGACTATAACTCCCTCCTAAGTTCATCAAGTGGTTTCAGGGTTTAAAGGGGATAAAGTTAAGGAATGTACTATAACTGTTATCCACTGCTCTATAAAGATATGCTGCTGTGGTTACATGGCAGTCTTAGGAGCACTGATGGTGCTTTCTACTTGTAAGGATATTCCCGGATTTGAGTTCAAATGAGTGATGTTAGGCTCTAACCAGGGAGAGAACAATTTAAATAACTGGAGAAAACATCTTAAGATAAACATAAAAACTACAGGAATAAAAGGCA... | TCACTTGATCTCTTCAAGCCTTGCTTTTCTCATCTCTAAAATGAAGACTATAACTCCCTCCTAAGTTCATCAAGTGGTTTCAGGGTTTAAAGGGGATAAAGTTAAGGAATGTACTATAACTGTTATCCACTGCTCTATAAAGATATGCTGCTGTGGTTACATGGCAGTCTTAGGAGCACTGATGGTGCTTTCTACTTGTAAGGATATTCCCGGATTTGAGTTCAAATGAGTGATGTTAGGCTCTAACCAGGGAGAGAACAATTTAAATAACTGGAGAAAACATCTTAAGATAAACATAAAAACTACAGGAATAAAAGGCA... | pathogenic | 332,883 |
Is the genetic mutation found on chromosome X at position 38298983, 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', 'Retinitis_pigmentosa'] | TCTCTTCAAGCCTTGCTTTTCTCATCTCTAAAATGAAGACTATAACTCCCTCCTAAGTTCATCAAGTGGTTTCAGGGTTTAAAGGGGATAAAGTTAAGGAATGTACTATAACTGTTATCCACTGCTCTATAAAGATATGCTGCTGTGGTTACATGGCAGTCTTAGGAGCACTGATGGTGCTTTCTACTTGTAAGGATATTCCCGGATTTGAGTTCAAATGAGTGATGTTAGGCTCTAACCAGGGAGAGAACAATTTAAATAACTGGAGAAAACATCTTAAGATAAACATAAAAACTACAGGAATAAAAGGCACATTTATC... | TCTCTTCAAGCCTTGCTTTTCTCATCTCTAAAATGAAGACTATAACTCCCTCCTAAGTTCATCAAGTGGTTTCAGGGTTTAAAGGGGATAAAGTTAAGGAATGTACTATAACTGTTATCCACTGCTCTATAAAGATATGCTGCTGTGGTTACATGGCAGTCTTAGGAGCACTGATGGTGCTTTCTACTTGTAAGGATATTCCCGGATTTGAGTTCAAATGAGTGATGTTAGGCTCTAACCAGGGAGAGAACAATTTAAATAACTGGAGAAAACATCTTAAGATAAACATAAAAACTACAGGAATAAAAGGCACATTTATC... | pathogenic | 332,885 |
Variant at chromosome X, position 38298983, gene RPGR (retinitis pigmentosa GTPase regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa_3'] | TCTCTTCAAGCCTTGCTTTTCTCATCTCTAAAATGAAGACTATAACTCCCTCCTAAGTTCATCAAGTGGTTTCAGGGTTTAAAGGGGATAAAGTTAAGGAATGTACTATAACTGTTATCCACTGCTCTATAAAGATATGCTGCTGTGGTTACATGGCAGTCTTAGGAGCACTGATGGTGCTTTCTACTTGTAAGGATATTCCCGGATTTGAGTTCAAATGAGTGATGTTAGGCTCTAACCAGGGAGAGAACAATTTAAATAACTGGAGAAAACATCTTAAGATAAACATAAAAACTACAGGAATAAAAGGCACATTTATC... | TCTCTTCAAGCCTTGCTTTTCTCATCTCTAAAATGAAGACTATAACTCCCTCCTAAGTTCATCAAGTGGTTTCAGGGTTTAAAGGGGATAAAGTTAAGGAATGTACTATAACTGTTATCCACTGCTCTATAAAGATATGCTGCTGTGGTTACATGGCAGTCTTAGGAGCACTGATGGTGCTTTCTACTTGTAAGGATATTCCCGGATTTGAGTTCAAATGAGTGATGTTAGGCTCTAACCAGGGAGAGAACAATTTAAATAACTGGAGAAAACATCTTAAGATAAACATAAAAACTACAGGAATAAAAGGCACATTTATC... | pathogenic | 332,886 |
Assess the variant on chromosome X, position 38299108, impacting RPGR (retinitis pigmentosa GTPase regulator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy'] | TCTATAAAGATATGCTGCTGTGGTTACATGGCAGTCTTAGGAGCACTGATGGTGCTTTCTACTTGTAAGGATATTCCCGGATTTGAGTTCAAATGAGTGATGTTAGGCTCTAACCAGGGAGAGAACAATTTAAATAACTGGAGAAAACATCTTAAGATAAACATAAAAACTACAGGAATAAAAGGCACATTTATCCTGAGAGCAGACAGAGTAGCAAATGTTACCTGGTTCCTCTGGCTGCATGAGGTCCTGTTCAGATAAGACACTCTCTTGGAGGTTTCTCTCAGAACATCGTGGAAAGACTGAATTGGGGAGAAAAC... | TCTATAAAGATATGCTGCTGTGGTTACATGGCAGTCTTAGGAGCACTGATGGTGCTTTCTACTTGTAAGGATATTCCCGGATTTGAGTTCAAATGAGTGATGTTAGGCTCTAACCAGGGAGAGAACAATTTAAATAACTGGAGAAAACATCTTAAGATAAACATAAAAACTACAGGAATAAAAGGCACATTTATCCTGAGAGCAGACAGAGTAGCAAATGTTACCTGGTTCCTCTGGCTGCATGAGGTCCTGTTCAGATAAGACACTCTCTTGGAGGTTTCTCTCAGAACATCGTGGAAAGACTGAATTGGGGAGAAAAC... | pathogenic | 332,894 |
Variant in gene RPGR (retinitis pigmentosa GTPase regulator), located at chromosome X position 38301247: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic | TTTAACAGTTATCAGCTGTAAGACATTTATTTAGTGGTAGGCTTCCTAGACAGACTGGCTTGGTGAATCTCTCTGTCTATACGTATGTGTGTGCACAATGAGAATGTGTACACAATATGTATACAATAGGTACACAATTACCATACATATTCTTTAAACATTGTGATTGAAAATTAGAACAAGTTTAATCCACCATTTTACTTTCAATTTAAAATAATATAGAGAAAAAAATACTTGGCAAATTACATTTCTCCTTACAGTTAGAAAATGTTGTATTTTAATCTGGGAAGAACATTAAAAATGTGAAAAATTACTCAGAG... | TTTAACAGTTATCAGCTGTAAGACATTTATTTAGTGGTAGGCTTCCTAGACAGACTGGCTTGGTGAATCTCTCTGTCTATACGTATGTGTGTGCACAATGAGAATGTGTACACAATATGTATACAATAGGTACACAATTACCATACATATTCTTTAAACATTGTGATTGAAAATTAGAACAAGTTTAATCCACCATTTTACTTTCAATTTAAAATAATATAGAGAAAAAAATACTTGGCAAATTACATTTCTCCTTACAGTTAGAAAATGTTGTATTTTAATCTGGGAAGAACATTAAAAATGTGAAAAATTACTCAGAG... | pathogenic | 332,898 |
Does the genetic variant at chromosome X, position 38301348, impacting gene RPGR (retinitis pigmentosa GTPase regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Retinitis_pigmentosa'] | GAATGTGTACACAATATGTATACAATAGGTACACAATTACCATACATATTCTTTAAACATTGTGATTGAAAATTAGAACAAGTTTAATCCACCATTTTACTTTCAATTTAAAATAATATAGAGAAAAAAATACTTGGCAAATTACATTTCTCCTTACAGTTAGAAAATGTTGTATTTTAATCTGGGAAGAACATTAAAAATGTGAAAAATTACTCAGAGAAGTTCTACTAGAAGATTTTTTTTAAAGTATAAATCAGTCTCTTGAGCTAATTATGTCTCTAAGCCTTCTTTATATGAACATTTTCTAAGTTTAATGCTTA... | GAATGTGTACACAATATGTATACAATAGGTACACAATTACCATACATATTCTTTAAACATTGTGATTGAAAATTAGAACAAGTTTAATCCACCATTTTACTTTCAATTTAAAATAATATAGAGAAAAAAATACTTGGCAAATTACATTTCTCCTTACAGTTAGAAAATGTTGTATTTTAATCTGGGAAGAACATTAAAAATGTGAAAAATTACTCAGAGAAGTTCTACTAGAAGATTTTTTTTAAAGTATAAATCAGTCTCTTGAGCTAATTATGTCTCTAAGCCTTCTTTATATGAACATTTTCTAAGTTTAATGCTTA... | pathogenic | 332,901 |
The genetic variant at chromosome X, position 38304699, affecting gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia'] | ATACTAAGCAAATCCAAGAGAACTGAAAAATCATCAGAAAGAATAATATAATTCAGTAAGGTGGCAAGTATAAAAATCGATTTACAAAAATAAGTAGATTCCCTGTAAATATGTAAGTAAGTGCTATTCAGTGTTTGGACTCTTTAGACTACCTTTTTTTTTTTTTCTTTTTTTTTTTGAGATGGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTCAATAGCTGATATTACAGGCACGCGCTGCCATGCT... | ATACTAAGCAAATCCAAGAGAACTGAAAAATCATCAGAAAGAATAATATAATTCAGTAAGGTGGCAAGTATAAAAATCGATTTACAAAAATAAGTAGATTCCCTGTAAATATGTAAGTAAGTGCTATTCAGTGTTTGGACTCTTTAGACTACCTTTTTTTTTTTTTCTTTTTTTTTTTGAGATGGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTCAATAGCTGATATTACAGGCACGCGCTGCCATGCT... | pathogenic | 332,907 |
Variant on chromosome X, at position 38310737, affecting RPGR (retinitis pigmentosa GTPase regulator): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy'] | AGAATATTTTCGAAATTATATAAAATTCACTTTTTCAGCAGGAATTCAAAAACATCTTAAACCTCAGAATTATTTCCAAATTTAGAGTATAAGTTTTGAAAAAAAATTATTTCTAACTTAGAAAAGATTCCATCTAGAAACTAAAGCTTAATAACCACGACTGGGGCTAGAACAGGAAGCTGAGGAAAAGTAACATCAGAGAAAAAAACATAAAGATAAAATATTATTCACTTACCTGGCAACATTAGGCATATCATCTTAGAATTGGATATTATTCAAAATTTGTCTACAACATTTCTAACTTTGGGCTACTAAAGATT... | AGAATATTTTCGAAATTATATAAAATTCACTTTTTCAGCAGGAATTCAAAAACATCTTAAACCTCAGAATTATTTCCAAATTTAGAGTATAAGTTTTGAAAAAAAATTATTTCTAACTTAGAAAAGATTCCATCTAGAAACTAAAGCTTAATAACCACGACTGGGGCTAGAACAGGAAGCTGAGGAAAAGTAACATCAGAGAAAAAAACATAAAGATAAAATATTATTCACTTACCTGGCAACATTAGGCATATCATCTTAGAATTGGATATTATTCAAAATTTGTCTACAACATTTCTAACTTTGGGCTACTAAAGATT... | pathogenic | 332,919 |
A genetic alteration at chromosome X, position 38317310, in gene RPGR (retinitis pigmentosa GTPase regulator)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Primary_ciliary_dyskinesia'] | GCAGAGGTTGCAGTGAGCCGGGACTATACTACTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAACAAGAAAAAATGTGGTACTTATGCACAATAGAGTACTATTCAGCCATGAAAAAGAATGAGATCCGGTCATTTGCAATAACGTGGATGGAACTGGAAGTCATTACGTTAAATGAAATAAAACAGGCACAGAAAGACATACACTGCGTGTTCTCACTTATTTGTGGGATGTAAAAATCAAAAGAAACTCATGGAAATAAAGAGTAGAAGGATTGTTACCAAAGGCTAGAAAGGGTAGTGGGGTGTG... | GCAGAGGTTGCAGTGAGCCGGGACTATACTACTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAACAAGAAAAAATGTGGTACTTATGCACAATAGAGTACTATTCAGCCATGAAAAAGAATGAGATCCGGTCATTTGCAATAACGTGGATGGAACTGGAAGTCATTACGTTAAATGAAATAAAACAGGCACAGAAAGACATACACTGCGTGTTCTCACTTATTTGTGGGATGTAAAAATCAAAAGAAACTCATGGAAATAAAGAGTAGAAGGATTGTTACCAAAGGCTAGAAAGGGTAGTGGGGTGTG... | pathogenic | 332,923 |
A genetic variant at chromosome X, position 38317448, affecting gene RPGR (retinitis pigmentosa GTPase regulator)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'X-linked_cone-rod_dystrophy_1'] | CCGGTCATTTGCAATAACGTGGATGGAACTGGAAGTCATTACGTTAAATGAAATAAAACAGGCACAGAAAGACATACACTGCGTGTTCTCACTTATTTGTGGGATGTAAAAATCAAAAGAAACTCATGGAAATAAAGAGTAGAAGGATTGTTACCAAAGGCTAGAAAGGGTAGTGGGGTGTGTGTAGGAGGGAGGTTAATGGGTCCAAAAATTAGAAATAATAATTTCTAGTATTTGATAGCACAACAGGATGATTACAATCAAAATAATTGTACATTTTAAAATAACTAAGACAGTATCATTGGATTGTTTATAACACA... | CCGGTCATTTGCAATAACGTGGATGGAACTGGAAGTCATTACGTTAAATGAAATAAAACAGGCACAGAAAGACATACACTGCGTGTTCTCACTTATTTGTGGGATGTAAAAATCAAAAGAAACTCATGGAAATAAAGAGTAGAAGGATTGTTACCAAAGGCTAGAAAGGGTAGTGGGGTGTGTGTAGGAGGGAGGTTAATGGGTCCAAAAATTAGAAATAATAATTTCTAGTATTTGATAGCACAACAGGATGATTACAATCAAAATAATTGTACATTTTAAAATAACTAAGACAGTATCATTGGATTGTTTATAACACA... | pathogenic | 332,929 |
Variant in gene RPGR (retinitis pigmentosa GTPase regulator), located at chromosome X position 38318907: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa'] | ACTATTTCCTCTAGGTGTTTTTACTGTTGAAAAATCCCATCAATTAGATGGAAAGTCATAATCACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTA... | ACTATTTCCTCTAGGTGTTTTTACTGTTGAAAAATCCCATCAATTAGATGGAAAGTCATAATCACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTA... | pathogenic | 332,937 |
Gene RPGR (retinitis pigmentosa GTPase regulator) variant at chromosome X, position 38318914—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Retinal_dystrophy'] | CCTCTAGGTGTTTTTACTGTTGAAAAATCCCATCAATTAGATGGAAAGTCATAATCACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTAAAACAGA... | CCTCTAGGTGTTTTTACTGTTGAAAAATCCCATCAATTAGATGGAAAGTCATAATCACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTAAAACAGA... | pathogenic | 332,938 |
Gene mutation in RPGR (retinitis pigmentosa GTPase regulator) at chromosome X, position 38318925—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy'] | TTTTACTGTTGAAAAATCCCATCAATTAGATGGAAAGTCATAATCACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTAAAACAGACCAAAATAATT... | TTTTACTGTTGAAAAATCCCATCAATTAGATGGAAAGTCATAATCACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTAAAACAGACCAAAATAATT... | pathogenic | 332,939 |
Assess the variant on chromosome X, position 38318970, impacting RPGR (retinitis pigmentosa GTPase regulator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy'] | ACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTAAAACAGACCAAAATAATTTCATTACATGGACAACCATGGCATTATTTCTATAGAACCAGAGAC... | ACACTTCCTCTATTATTACTAGTGTAGATAGATATAGACTATAACAGCTAGAGCCCAACATTTCCAATATTTTAACTAAGACAGAAAAGGTTGCCAGTGGGTCCAGGAAAGGGAGAAGTTGGGAATGCTGAGAAAGTCCCACCAAAGGAAACTATATCCCATGCTGAGCTCTCTATATTCACCTAAAAAGTGATCATGTCAGACAGAGTTTGAAATTATGAACTCTTATTATATAAATGGGGAAATACTGTGACCTAAAACAGACCAAAATAATTTCATTACATGGACAACCATGGCATTATTTCTATAGAACCAGAGAC... | pathogenic | 332,941 |
The genetic variant at chromosome X, position 38321081, affecting gene RPGR (retinitis pigmentosa GTPase regulator): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Retinal_dystrophy', 'Retinitis_pigmentosa'] | TTTATGAGACAGGTCAGTGTATAGCAGCGATTTCCTCTATTAACAGTGAAGAAAGTTGAAAGCTATCACTATCCTATTATTTGGGAGACAACTTCATTTCATCGTCAAAATAAAGCAAAACAAGCAAGGCCACATATTTTTGTGAGATTTTAGAAATCAATCTAGAATGTAACTAGCAACTGAAATGAACAGAATGCATGGAACGTATTTATTTCTTGCTAATATAGCACTTTATTAATTCAGAGTAAAAACAAGGAAAGTAACTTCCAAACTAGTTTAAAATGCAAATCTATTTTAAAAGAGATGTGTCCATTAATTTT... | TTTATGAGACAGGTCAGTGTATAGCAGCGATTTCCTCTATTAACAGTGAAGAAAGTTGAAAGCTATCACTATCCTATTATTTGGGAGACAACTTCATTTCATCGTCAAAATAAAGCAAAACAAGCAAGGCCACATATTTTTGTGAGATTTTAGAAATCAATCTAGAATGTAACTAGCAACTGAAATGAACAGAATGCATGGAACGTATTTATTTCTTGCTAATATAGCACTTTATTAATTCAGAGTAAAAACAAGGAAAGTAACTTCCAAACTAGTTTAAAATGCAAATCTATTTTAAAAGAGATGTGTCCATTAATTTT... | pathogenic | 332,947 |
Evaluate if the mutation on chromosome X at position 38322880 in RPGR (retinitis pigmentosa GTPase regulator) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia'] | AGCTTTTTCTTCAGCCATTTGACATTTACGTGTATATTTGCAAAGGCAAACGTGTACTAGCCATTGACATTTTAAAAAACCCTAATTTTACTGTTGCCAAAGTATAATCTCTATTAATTTTACAAAGCCACGTTACTGGAATGAGACCTCAGTTCTCAAAGTCAGGCAGGAAATCATACAGGTTGAGCACTATACCTGTTGACACCAGGGTGTGGTTCCTTCCACAGGCAGCTAATTTCACTTTTTCAGGTTTTAGAGCTAAAAATATTTAAAATGGGACAATTATTTTATAGCAATGAAAATGAACAGTAGTCCAGGAC... | AGCTTTTTCTTCAGCCATTTGACATTTACGTGTATATTTGCAAAGGCAAACGTGTACTAGCCATTGACATTTTAAAAAACCCTAATTTTACTGTTGCCAAAGTATAATCTCTATTAATTTTACAAAGCCACGTTACTGGAATGAGACCTCAGTTCTCAAAGTCAGGCAGGAAATCATACAGGTTGAGCACTATACCTGTTGACACCAGGGTGTGGTTCCTTCCACAGGCAGCTAATTTCACTTTTTCAGGTTTTAGAGCTAAAAATATTTAAAATGGGACAATTATTTTATAGCAATGAAAATGAACAGTAGTCCAGGAC... | pathogenic | 332,951 |
A genetic variant on chromosome X, position 38323451, 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', 'Retinal_dystrophy'] | AGCACTTTGGGAGGCCAGGACAGGCAGATGGCTTGAGCTCAGGAGTTCCAGACCAACCTGGGCAACATGGTGAAACCCCTTCTCTACAAAAAAATACAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAGTTGCAGCTATTCGGGGAGGGGGTGCTGAGGTGGGAGAATGGCTGGAGCCCAGGAGGTCGAGGCTGCAGTAAGCAGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAACAACAACTTCACAGGTAATTAATATGTGCTGAGACCCACTGTATTCTATT... | AGCACTTTGGGAGGCCAGGACAGGCAGATGGCTTGAGCTCAGGAGTTCCAGACCAACCTGGGCAACATGGTGAAACCCCTTCTCTACAAAAAAATACAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAGTTGCAGCTATTCGGGGAGGGGGTGCTGAGGTGGGAGAATGGCTGGAGCCCAGGAGGTCGAGGCTGCAGTAAGCAGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAACAACAACTTCACAGGTAATTAATATGTGCTGAGACCCACTGTATTCTATT... | pathogenic | 332,962 |
A genetic variant at chromosome X, position 38323471, affecting gene RPGR (retinitis pigmentosa GTPase regulator)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | CAGGCAGATGGCTTGAGCTCAGGAGTTCCAGACCAACCTGGGCAACATGGTGAAACCCCTTCTCTACAAAAAAATACAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAGTTGCAGCTATTCGGGGAGGGGGTGCTGAGGTGGGAGAATGGCTGGAGCCCAGGAGGTCGAGGCTGCAGTAAGCAGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAACAACAACTTCACAGGTAATTAATATGTGCTGAGACCCACTGTATTCTATTATGCTGCCTCCTCACCAATC... | CAGGCAGATGGCTTGAGCTCAGGAGTTCCAGACCAACCTGGGCAACATGGTGAAACCCCTTCTCTACAAAAAAATACAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAGTTGCAGCTATTCGGGGAGGGGGTGCTGAGGTGGGAGAATGGCTGGAGCCCAGGAGGTCGAGGCTGCAGTAAGCAGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAACAACAACTTCACAGGTAATTAATATGTGCTGAGACCCACTGTATTCTATTATGCTGCCTCCTCACCAATC... | pathogenic | 332,963 |
Determine if the mutation at chromosome X, position 38381302 in gene OTC (ornithine transcarbamylase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TAGATCACACTTTGAGCTGACTCAATAGCTGGCTTCCCTATGGCAAGGCCTAGGGCTGTGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTA... | TAGATCACACTTTGAGCTGACTCAATAGCTGGCTTCCCTATGGCAAGGCCTAGGGCTGTGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTA... | benign | 332,995 |
Mutation found at chromosome X position 38381324, gene OTC (ornithine transcarbamylase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CAATAGCTGGCTTCCCTATGGCAAGGCCTAGGGCTGTGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACA... | CAATAGCTGGCTTCCCTATGGCAAGGCCTAGGGCTGTGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACA... | benign | 332,997 |
Variant chromosome X, position 38408971, gene OTC (ornithine transcarbamylase): benign or pathogenic? Disease(s)? | pathogenic; ['Ornithine_carbamoyltransferase_deficiency'] | AGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCCATTG... | AGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCCATTG... | pathogenic | 333,059 |
Variant on chromosome X, at position 38411917, affecting OTC (ornithine transcarbamylase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ornithine_carbamoyltransferase_deficiency'] | AAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATT... | AAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATT... | pathogenic | 333,071 |
Does the variant impacting TSPAN7 (tetraspanin 7) on chromosome X, position 38561512, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCATTGCAGTATGGGGCAATGCCCCTCAACTCTTGCTTAATATTCAGACCACCTGAAGAGCTTCTAAAACGCGGAGCTTTCACCCCACACCAAATGACTCCAAATAGCTGGGATTGGGCACAGGCATTCATAATTGTTTTAAAACACCAGGTGATGCAAATGAGCACCCAGCATCGAGAATCAGTGTGCCAAGACCCCTTTATAACAGACACCTTGCTCAACCTGTCCCTTCTTTCACCTGCACCTATATTCCACCCTTGTATGCCCACATACCTTTTTGTTATAGTTGACAATTTCCTTAAACAGGTTCTCCTCTTCCT... | TCATTGCAGTATGGGGCAATGCCCCTCAACTCTTGCTTAATATTCAGACCACCTGAAGAGCTTCTAAAACGCGGAGCTTTCACCCCACACCAAATGACTCCAAATAGCTGGGATTGGGCACAGGCATTCATAATTGTTTTAAAACACCAGGTGATGCAAATGAGCACCCAGCATCGAGAATCAGTGTGCCAAGACCCCTTTATAACAGACACCTTGCTCAACCTGTCCCTTCTTTCACCTGCACCTATATTCCACCCTTGTATGCCCACATACCTTTTTGTTATAGTTGACAATTTCCTTAAACAGGTTCTCCTCTTCCT... | benign | 333,080 |
For chromosome X, position 40053925, gene BCOR (BCL6 corepressor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Oculofaciocardiodental_syndrome'] | GTGTGCATTGAAAAGTAAAGAAACATTATAACAACTTCATAAAAACTGACTTAAAAGTTTAAAAGGAAAAAAACATGTTTCTAAGTCCTTCTGACTGGAGTAATTTCTCTTATATAAAGAAGAGATATTTTCATATGTAATAGTGTCCTTTCTTTACAGAAATAGTTGTATTATGACACATATGCACAAGGATTAACACTATAACACACTGTACATGGTGGGTCCAGCTTGCTCACCAGTAGTTGTCTGAGGCCAGATCACTGGGGTGGAGCCACTCTACAGAGGAGCCCAGCAGAGTCTGAATTTCGTTCGTGAATTCC... | GTGTGCATTGAAAAGTAAAGAAACATTATAACAACTTCATAAAAACTGACTTAAAAGTTTAAAAGGAAAAAAACATGTTTCTAAGTCCTTCTGACTGGAGTAATTTCTCTTATATAAAGAAGAGATATTTTCATATGTAATAGTGTCCTTTCTTTACAGAAATAGTTGTATTATGACACATATGCACAAGGATTAACACTATAACACACTGTACATGGTGGGTCCAGCTTGCTCACCAGTAGTTGTCTGAGGCCAGATCACTGGGGTGGAGCCACTCTACAGAGGAGCCCAGCAGAGTCTGAATTTCGTTCGTGAATTCC... | pathogenic | 333,088 |
Mutation found at chromosome X position 40063034, gene BCOR (BCL6 corepressor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Glioblastoma', 'Inborn_genetic_diseases'] | GCTCAAGGCACAGCAGACTGCTGACTGCAGCATGGTTAAGGTGCATGAGCCTGGGCTCTGGCTGAATTCCGGGAGCCCACAGCTGAGCATGGCCTGGCATGGATCCTGTCGCCCGGGTGCTTCTCCACACTTCACACTCAGCCTGCTGAACCGCATTTTATTTTCACCACGACTCCTAGAGAGCTGATGCCAGCATAAAAAAAAATGTCTTTGCACTGTGGGCTATTACATCACTATCTCAACTGACAAGTGTGTGGTGGGGAGACGCACAGGGGCAGACGTAGGTTTTGAACTGTGAAAAGCGTGATTCCAATGGGAGC... | GCTCAAGGCACAGCAGACTGCTGACTGCAGCATGGTTAAGGTGCATGAGCCTGGGCTCTGGCTGAATTCCGGGAGCCCACAGCTGAGCATGGCCTGGCATGGATCCTGTCGCCCGGGTGCTTCTCCACACTTCACACTCAGCCTGCTGAACCGCATTTTATTTTCACCACGACTCCTAGAGAGCTGATGCCAGCATAAAAAAAAATGTCTTTGCACTGTGGGCTATTACATCACTATCTCAACTGACAAGTGTGTGGTGGGGAGACGCACAGGGGCAGACGTAGGTTTTGAACTGTGAAAAGCGTGATTCCAATGGGAGC... | pathogenic | 333,103 |
The genetic variant at chromosome X, position 40072922, affecting gene BCOR (BCL6 corepressor): benign or pathogenic? Disease name(s) if pathogenic? | benign | CGGCCCTTCATTCCATGCATGGCAAAAGCAGCCCATTTCTCCAAGCAGATGCCAACCGGACCTGAGGCCAACACAAGCAAACTGCTCAGGTTTACTTACATCTCTCACTTTCGTTCTGTTCTGCAATGGCCTCCTCCAGGGTGACCGACTTTGGCTTTTTGTCCTGATTTCCTTTCAACCTTTCCCAGTCGGCTGGGCTGAATTTGCACATCTCGGAGTCTTTGGTTGCTGGGTGGCCACCTTCTCTTTCTTTCATCTCCAACTCTGAGAAGCGCATCATTGCACGCTAGAAAGAGAACGGAGATGGAAAAAAAAAAAAA... | CGGCCCTTCATTCCATGCATGGCAAAAGCAGCCCATTTCTCCAAGCAGATGCCAACCGGACCTGAGGCCAACACAAGCAAACTGCTCAGGTTTACTTACATCTCTCACTTTCGTTCTGTTCTGCAATGGCCTCCTCCAGGGTGACCGACTTTGGCTTTTTGTCCTGATTTCCTTTCAACCTTTCCCAGTCGGCTGGGCTGAATTTGCACATCTCGGAGTCTTTGGTTGCTGGGTGGCCACCTTCTCTTTCTTTCATCTCCAACTCTGAGAAGCGCATCATTGCACGCTAGAAAGAGAACGGAGATGGAAAAAAAAAAAAA... | benign | 333,121 |
Variant at chromosome position 40072955, chromosome X, gene BCOR (BCL6 corepressor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Oculofaciocardiodental_syndrome'] | CATTTCTCCAAGCAGATGCCAACCGGACCTGAGGCCAACACAAGCAAACTGCTCAGGTTTACTTACATCTCTCACTTTCGTTCTGTTCTGCAATGGCCTCCTCCAGGGTGACCGACTTTGGCTTTTTGTCCTGATTTCCTTTCAACCTTTCCCAGTCGGCTGGGCTGAATTTGCACATCTCGGAGTCTTTGGTTGCTGGGTGGCCACCTTCTCTTTCTTTCATCTCCAACTCTGAGAAGCGCATCATTGCACGCTAGAAAGAGAACGGAGATGGAAAAAAAAAAAAACAACACCTTACCATAAAAGCTATTTCATTTGCC... | CATTTCTCCAAGCAGATGCCAACCGGACCTGAGGCCAACACAAGCAAACTGCTCAGGTTTACTTACATCTCTCACTTTCGTTCTGTTCTGCAATGGCCTCCTCCAGGGTGACCGACTTTGGCTTTTTGTCCTGATTTCCTTTCAACCTTTCCCAGTCGGCTGGGCTGAATTTGCACATCTCGGAGTCTTTGGTTGCTGGGTGGCCACCTTCTCTTTCTTTCATCTCCAACTCTGAGAAGCGCATCATTGCACGCTAGAAAGAGAACGGAGATGGAAAAAAAAAAAAACAACACCTTACCATAAAAGCTATTTCATTTGCC... | pathogenic | 333,123 |
Located at chromosome X position 40074408, the variant affecting gene BCOR—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTTGCTCCCGGCTGAGCTGACTGGAATCTGCATACAGTTCGGTAGTGACACATTTGAATCGGTCACCCACGTAACCCGCTGAGTTGGCGATTCTCTTTGCCAGCTTAGATGGCTTCGGTTTCAGAACTTTGCCATCATTTGATTCAGCCTCATCAGCTCCATCTTTGGTATAGGTGGGGGTCACATCCACACTTGGTGGGGCACTGCCCACACAAAATGGTTTGGGATCCTCTTGGGTTTTACCAAAAGTTACAGCAGGGCCATCGCTCCCCAGAGGTGGCTCCAGGAATGGAGTCGAGACTGGCAACCCTAGGTTCTCT... | GTTGCTCCCGGCTGAGCTGACTGGAATCTGCATACAGTTCGGTAGTGACACATTTGAATCGGTCACCCACGTAACCCGCTGAGTTGGCGATTCTCTTTGCCAGCTTAGATGGCTTCGGTTTCAGAACTTTGCCATCATTTGATTCAGCCTCATCAGCTCCATCTTTGGTATAGGTGGGGGTCACATCCACACTTGGTGGGGCACTGCCCACACAAAATGGTTTGGGATCCTCTTGGGTTTTACCAAAAGTTACAGCAGGGCCATCGCTCCCCAGAGGTGGCTCCAGGAATGGAGTCGAGACTGGCAACCCTAGGTTCTCT... | benign | 333,137 |
Assess the variant on chromosome X, position 41123703, impacting USP9X (ubiquitin specific peptidase 9 X-linked): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Inborn_genetic_diseases', 'USP9X-related_disorder'] | AGTTAGAACCAATCAGTTAAGTTTCTCTATCTGGTGGCACCTTAGAGTCATTCACTGGGGGAGATTTTTTGCAAAGTTCTGATGCCTAGGCCTTACTCCCAGATACTGTAATTTATTTCATCTGGAGAGGAACCTGGGCATCAGTGTTTTAAACAAAATCACTTCAGGTGATTTTATTGTGTAGCTGAAGAGGGCTACTGATCTAATGAATATAGAATTGAGGATTTGGTAGCATTCTCCTGTACTTGTTTGCTGGTCAGTTTGTAAAGAAGAGTTCCCTGTTCTTAAACAGTTGTGGCCTTGTAACCCTGTTATGGCTC... | AGTTAGAACCAATCAGTTAAGTTTCTCTATCTGGTGGCACCTTAGAGTCATTCACTGGGGGAGATTTTTTGCAAAGTTCTGATGCCTAGGCCTTACTCCCAGATACTGTAATTTATTTCATCTGGAGAGGAACCTGGGCATCAGTGTTTTAAACAAAATCACTTCAGGTGATTTTATTGTGTAGCTGAAGAGGGCTACTGATCTAATGAATATAGAATTGAGGATTTGGTAGCATTCTCCTGTACTTGTTTGCTGGTCAGTTTGTAAAGAAGAGTTCCCTGTTCTTAAACAGTTGTGGCCTTGTAACCCTGTTATGGCTC... | pathogenic | 333,189 |
Assess the variant on chromosome X, position 41152989, impacting USP9X (ubiquitin specific peptidase 9 X-linked): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Intellectual_disability,_X-linked_99,_syndromic,_female-restricted', 'USP9X-related_disorder'] | CCAATGGATAGATCGCTTTATAGAAGAACTTCGCACAAATGACAAATGGGTTATTCCCGCACTGAAACAAATTAGAGAAATTTGTAGTTTGTTTGGTGAAGCGCCTCAAAATTTGAGGTAAGACTTTTTAACATAGAAAATTTCAATACTTAAAATTTATGTACTTTATTGAAAAGAAACAGCATATTGGCTGGCAAATGCAAATTTTTAAATTAGTGGAGTGAGAAGAGGCTATATAAGAAGTGTTTGGAACAAAAGAATTCTTTATTACATCTACCTCCTTTTTTTTTATTAATGAGGAAGTAAGCCACAGTTAAGTG... | CCAATGGATAGATCGCTTTATAGAAGAACTTCGCACAAATGACAAATGGGTTATTCCCGCACTGAAACAAATTAGAGAAATTTGTAGTTTGTTTGGTGAAGCGCCTCAAAATTTGAGGTAAGACTTTTTAACATAGAAAATTTCAATACTTAAAATTTATGTACTTTATTGAAAAGAAACAGCATATTGGCTGGCAAATGCAAATTTTTAAATTAGTGGAGTGAGAAGAGGCTATATAAGAAGTGTTTGGAACAAAAGAATTCTTTATTACATCTACCTCCTTTTTTTTTATTAATGAGGAAGTAAGCCACAGTTAAGTG... | pathogenic | 333,212 |
Variant on chromosome X, at position 41183983, affecting USP9X (ubiquitin specific peptidase 9 X-linked): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AAATTTTTCTGGCTTCCATTTTTTATAAAATGTAACATGATATAATCAGGGATGAATATGAGAGCTGGAATGGCCACTGAGTGTTAACTTTGATTCAGATCTCTCAAATGAGTAAACTATAATTCAAGACCATTAAATGATTTGCTTAGAATTCACTACTTCTGACCGGGTCACGCTGGTAATCCCAGCACTTCAGGAAGCCAAGGTGGGAGGATTGCTTGAGCCCCTGGAGTTTGAGATCAGCCTGGGCAACATGGCATAACTCTGTCTCTACAAAAAAATATGCAAAAATTAGCTGGGCATGGTGGCACATGCCTGTG... | AAATTTTTCTGGCTTCCATTTTTTATAAAATGTAACATGATATAATCAGGGATGAATATGAGAGCTGGAATGGCCACTGAGTGTTAACTTTGATTCAGATCTCTCAAATGAGTAAACTATAATTCAAGACCATTAAATGATTTGCTTAGAATTCACTACTTCTGACCGGGTCACGCTGGTAATCCCAGCACTTCAGGAAGCCAAGGTGGGAGGATTGCTTGAGCCCCTGGAGTTTGAGATCAGCCTGGGCAACATGGCATAACTCTGTCTCTACAAAAAAATATGCAAAAATTAGCTGGGCATGGTGGCACATGCCTGTG... | benign | 333,223 |
Evaluate the clinical significance of the mutation at chromosome X, position 41218352 in gene USP9X (ubiquitin specific peptidase 9 X-linked): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GACGAAGAAATGAAAAACCAGTGTTTTGGTGGAGAGTACATGGGAGAAGTGTTTGATCACATGATGAAGCGTATGTCATACAGGCGCCAGAAAAGGTGGTGGAATGCTTATATACTTTTTTATGAACGAATGGACACAATAGACCAAGATGATGAGTTGATAAGATATATATCAGAGCTTGCTATCACCACCAGACCTCATCAGATTATTATGCCATCAGCCATTGAGAGAAGTGTACGGAAACAGAACGTACAATTCATGCATAACCGAATGCAGTACAGTATGGAGTATTTTCAGTTTATGAAAAAACTGCTTACATG... | GACGAAGAAATGAAAAACCAGTGTTTTGGTGGAGAGTACATGGGAGAAGTGTTTGATCACATGATGAAGCGTATGTCATACAGGCGCCAGAAAAGGTGGTGGAATGCTTATATACTTTTTTATGAACGAATGGACACAATAGACCAAGATGATGAGTTGATAAGATATATATCAGAGCTTGCTATCACCACCAGACCTCATCAGATTATTATGCCATCAGCCATTGAGAGAAGTGTACGGAAACAGAACGTACAATTCATGCATAACCGAATGCAGTACAGTATGGAGTATTTTCAGTTTATGAAAAAACTGCTTACATG... | benign | 333,263 |
Clinical classification of chromosome X, position 41339026, gene DDX3X (DEAD-box helicase 3 X-linked): benign or pathogenic? Disease(s) if pathogenic? | benign | GGAAAGTTGGCATTGGAAACTTTCATAACCGGCACTAAAACGAATCCTTTATCTATTTGACATTGAGGAATAATTTTGAGATTCAGTGTAAGCTTTAGTTTGGTGATTAGGGAGCCTGTGCTATGGAACATGTTAGTGAAAATTTATTTTGAATGCATGAATTAAATTTGGACAGTTTCTACTGAACAGCACAAGCATCTTGGTGTGCCGCCTTCTGTAGTATATACAATAGTAATATTGCATTTGCTTAGAGCATTGCAGACTTGAAAACATTCTTAGTCACATTCTCATTAAGGGTTGGTATTAGCCCTGTGAGGTGG... | GGAAAGTTGGCATTGGAAACTTTCATAACCGGCACTAAAACGAATCCTTTATCTATTTGACATTGAGGAATAATTTTGAGATTCAGTGTAAGCTTTAGTTTGGTGATTAGGGAGCCTGTGCTATGGAACATGTTAGTGAAAATTTATTTTGAATGCATGAATTAAATTTGGACAGTTTCTACTGAACAGCACAAGCATCTTGGTGTGCCGCCTTCTGTAGTATATACAATAGTAATATTGCATTTGCTTAGAGCATTGCAGACTTGAAAACATTCTTAGTCACATTCTCATTAAGGGTTGGTATTAGCCCTGTGAGGTGG... | benign | 333,286 |
Regarding the variant found on chromosome X at position 41341465 in gene DDX3X (DEAD-box helicase 3 X-linked): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TGTATAATGATAACAACCTGGTTATTTCTGTCTTGGCAAAGTTGCTAGAAATGAAGATGGGCTTATTGTAGAACAGTTAACAAGTTACAGCGTTGGAAGTGATTCTCTGGTTTCATCTCCTTGCCTTGCTGCTTTTGAAAGGTTTTGTCCAAAATGTATTACAATATCTGGTGTCTTTTCCCATTGTAATTGTAACGTAGTGATAGATGACAGCTAGTATATGTTTCATATTATGAGACAGCTGTTCGGGTGCTTTATATTCTGTAAAATAGACCATCCAAAATTTGGAGGAAAAGGGAAAGTCAGGAAAACCAAAGATT... | TGTATAATGATAACAACCTGGTTATTTCTGTCTTGGCAAAGTTGCTAGAAATGAAGATGGGCTTATTGTAGAACAGTTAACAAGTTACAGCGTTGGAAGTGATTCTCTGGTTTCATCTCCTTGCCTTGCTGCTTTTGAAAGGTTTTGTCCAAAATGTATTACAATATCTGGTGTCTTTTCCCATTGTAATTGTAACGTAGTGATAGATGACAGCTAGTATATGTTTCATATTATGAGACAGCTGTTCGGGTGCTTTATATTCTGTAAAATAGACCATCCAAAATTTGGAGGAAAAGGGAAAGTCAGGAAAACCAAAGATT... | benign | 333,295 |
Gene mutation in DDX3X (DEAD-box helicase 3 X-linked) at chromosome X, position 41341586—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Intellectual_disability,_X-linked_102'] | TGCCTTGCTGCTTTTGAAAGGTTTTGTCCAAAATGTATTACAATATCTGGTGTCTTTTCCCATTGTAATTGTAACGTAGTGATAGATGACAGCTAGTATATGTTTCATATTATGAGACAGCTGTTCGGGTGCTTTATATTCTGTAAAATAGACCATCCAAAATTTGGAGGAAAAGGGAAAGTCAGGAAAACCAAAGATTAGGAGGGAAGATACTGTATAAAGAAGGCAGATAGGAAGAGTGGAGAGTCCACAGGGGAGCACATGGTTTGCTGCTGTTCCTCCATCTCCATATGTAGTCTGTATTACCTTCACTGTCCTGG... | TGCCTTGCTGCTTTTGAAAGGTTTTGTCCAAAATGTATTACAATATCTGGTGTCTTTTCCCATTGTAATTGTAACGTAGTGATAGATGACAGCTAGTATATGTTTCATATTATGAGACAGCTGTTCGGGTGCTTTATATTCTGTAAAATAGACCATCCAAAATTTGGAGGAAAAGGGAAAGTCAGGAAAACCAAAGATTAGGAGGGAAGATACTGTATAAAGAAGGCAGATAGGAAGAGTGGAGAGTCCACAGGGGAGCACATGGTTTGCTGCTGTTCCTCCATCTCCATATGTAGTCTGTATTACCTTCACTGTCCTGG... | pathogenic | 333,304 |
A mutation at chromosome position 41342477 on chromosome X in gene DDX3X (DEAD-box helicase 3 X-linked): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GAAGGAAAGTAACTGAATTGAGAAGCTGTTTCTGTTTAATAAGGTGTTGCTGAAGCTAGTTAAACCCTCTACCTGTCTTTAAACCCTCTACCTGTCTTTGGGTTAATTTACATGTTTGTCATCCCCTTACCTGGATATTTATAGCTGTACCCAGGAACCTTGTCTATACTGAGAATATATAGTGATGAGGGTTTTTCTTTTTCCCAGGTATTCCTGATTGTCATCAAGCTTATAGTAGATGAACCACTAAAATAATACTACAATTTGACATTAGTGTTCTTGTACTTTATACTATTGAAACTGAAAAATACTGTATTAAA... | GAAGGAAAGTAACTGAATTGAGAAGCTGTTTCTGTTTAATAAGGTGTTGCTGAAGCTAGTTAAACCCTCTACCTGTCTTTAAACCCTCTACCTGTCTTTGGGTTAATTTACATGTTTGTCATCCCCTTACCTGGATATTTATAGCTGTACCCAGGAACCTTGTCTATACTGAGAATATATAGTGATGAGGGTTTTTCTTTTTCCCAGGTATTCCTGATTGTCATCAAGCTTATAGTAGATGAACCACTAAAATAATACTACAATTTGACATTAGTGTTCTTGTACTTTATACTATTGAAACTGAAAAATACTGTATTAAA... | benign | 333,306 |
Does the genetic variant at chromosome X, position 41342580, impacting gene DDX3X (DEAD-box helicase 3 X-linked), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Intellectual_disability,_X-linked_102'] | TAATTTACATGTTTGTCATCCCCTTACCTGGATATTTATAGCTGTACCCAGGAACCTTGTCTATACTGAGAATATATAGTGATGAGGGTTTTTCTTTTTCCCAGGTATTCCTGATTGTCATCAAGCTTATAGTAGATGAACCACTAAAATAATACTACAATTTGACATTAGTGTTCTTGTACTTTATACTATTGAAACTGAAAAATACTGTATTAAACCAAGTAATCTGACAGTCTATGAATGTTCTAAATGAATACCACCTCCAAGAAACATGGAAACAATGGTAACTGTTTTTCCTAGTAAACTCATTCACACCTATA... | TAATTTACATGTTTGTCATCCCCTTACCTGGATATTTATAGCTGTACCCAGGAACCTTGTCTATACTGAGAATATATAGTGATGAGGGTTTTTCTTTTTCCCAGGTATTCCTGATTGTCATCAAGCTTATAGTAGATGAACCACTAAAATAATACTACAATTTGACATTAGTGTTCTTGTACTTTATACTATTGAAACTGAAAAATACTGTATTAAACCAAGTAATCTGACAGTCTATGAATGTTCTAAATGAATACCACCTCCAAGAAACATGGAAACAATGGTAACTGTTTTTCCTAGTAAACTCATTCACACCTATA... | pathogenic | 333,307 |
Clinical classification of chromosome X, position 41342611, gene DDX3X (DEAD-box helicase 3 X-linked): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | ATATTTATAGCTGTACCCAGGAACCTTGTCTATACTGAGAATATATAGTGATGAGGGTTTTTCTTTTTCCCAGGTATTCCTGATTGTCATCAAGCTTATAGTAGATGAACCACTAAAATAATACTACAATTTGACATTAGTGTTCTTGTACTTTATACTATTGAAACTGAAAAATACTGTATTAAACCAAGTAATCTGACAGTCTATGAATGTTCTAAATGAATACCACCTCCAAGAAACATGGAAACAATGGTAACTGTTTTTCCTAGTAAACTCATTCACACCTATAAAATGAATGGAAATTAAATTGTTATGGTCAC... | ATATTTATAGCTGTACCCAGGAACCTTGTCTATACTGAGAATATATAGTGATGAGGGTTTTTCTTTTTCCCAGGTATTCCTGATTGTCATCAAGCTTATAGTAGATGAACCACTAAAATAATACTACAATTTGACATTAGTGTTCTTGTACTTTATACTATTGAAACTGAAAAATACTGTATTAAACCAAGTAATCTGACAGTCTATGAATGTTCTAAATGAATACCACCTCCAAGAAACATGGAAACAATGGTAACTGTTTTTCCTAGTAAACTCATTCACACCTATAAAATGAATGGAAATTAAATTGTTATGGTCAC... | pathogenic | 333,308 |
Considering the genetic mutation at chromosome X, position 41342743, impacting DDX3X (DEAD-box helicase 3 X-linked): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_X-linked_102', 'Rare_genetic_intellectual_disability'] | GACATTAGTGTTCTTGTACTTTATACTATTGAAACTGAAAAATACTGTATTAAACCAAGTAATCTGACAGTCTATGAATGTTCTAAATGAATACCACCTCCAAGAAACATGGAAACAATGGTAACTGTTTTTCCTAGTAAACTCATTCACACCTATAAAATGAATGGAAATTAAATTGTTATGGTCACACAACGTCATAATGCGTTACAGGCAAAGCTGTTGACCACTTAGAGGTAGTATTCATTGAGAAACATTCTTAGACTGTCAGATTGCTTGATTTAGTGTAAAGTAATTTTTTTTTTTTTGAGACAAGGGTGTTT... | GACATTAGTGTTCTTGTACTTTATACTATTGAAACTGAAAAATACTGTATTAAACCAAGTAATCTGACAGTCTATGAATGTTCTAAATGAATACCACCTCCAAGAAACATGGAAACAATGGTAACTGTTTTTCCTAGTAAACTCATTCACACCTATAAAATGAATGGAAATTAAATTGTTATGGTCACACAACGTCATAATGCGTTACAGGCAAAGCTGTTGACCACTTAGAGGTAGTATTCATTGAGAAACATTCTTAGACTGTCAGATTGCTTGATTTAGTGTAAAGTAATTTTTTTTTTTTTGAGACAAGGGTGTTT... | pathogenic | 333,312 |
Chromosome X, position 41342743, gene DDX3X (DEAD-box helicase 3 X-linked): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Intellectual_disability,_X-linked_102'] | GACATTAGTGTTCTTGTACTTTATACTATTGAAACTGAAAAATACTGTATTAAACCAAGTAATCTGACAGTCTATGAATGTTCTAAATGAATACCACCTCCAAGAAACATGGAAACAATGGTAACTGTTTTTCCTAGTAAACTCATTCACACCTATAAAATGAATGGAAATTAAATTGTTATGGTCACACAACGTCATAATGCGTTACAGGCAAAGCTGTTGACCACTTAGAGGTAGTATTCATTGAGAAACATTCTTAGACTGTCAGATTGCTTGATTTAGTGTAAAGTAATTTTTTTTTTTTTGAGACAAGGGTGTTT... | GACATTAGTGTTCTTGTACTTTATACTATTGAAACTGAAAAATACTGTATTAAACCAAGTAATCTGACAGTCTATGAATGTTCTAAATGAATACCACCTCCAAGAAACATGGAAACAATGGTAACTGTTTTTCCTAGTAAACTCATTCACACCTATAAAATGAATGGAAATTAAATTGTTATGGTCACACAACGTCATAATGCGTTACAGGCAAAGCTGTTGACCACTTAGAGGTAGTATTCATTGAGAAACATTCTTAGACTGTCAGATTGCTTGATTTAGTGTAAAGTAATTTTTTTTTTTTTGAGACAAGGGTGTTT... | pathogenic | 333,313 |
The genetic variant at chromosome X, position 41343713, affecting gene DDX3X (DEAD-box helicase 3 X-linked): benign or pathogenic? Disease name(s) if pathogenic? | benign | TAAGTCGTTATCCTGACCACCTGTTTGGATGTTAAGCATTATGTCTGTTTGGTCATTGTATTTTCTTAGCCGTAAGAGGCTTTTACTAAATTGAACCTGTTACTTAGAAATTAGATGAAAATAGGAATATGCTCATTGGCATAATGAAATGAGTTATTCTATTTCTCGAGTTTTATATGTTCTACTTAAAAGAGTAAGTTCATCTAGTGAATGGCCTAATTTGGTTGGGATTTTTGTGGACTCTATAACAATTTCTAAACACCTTGTATTTTTGATTACACAAGTGTGGTGAACTGACCCCACGTGCCTAATAGCTGTGG... | TAAGTCGTTATCCTGACCACCTGTTTGGATGTTAAGCATTATGTCTGTTTGGTCATTGTATTTTCTTAGCCGTAAGAGGCTTTTACTAAATTGAACCTGTTACTTAGAAATTAGATGAAAATAGGAATATGCTCATTGGCATAATGAAATGAGTTATTCTATTTCTCGAGTTTTATATGTTCTACTTAAAAGAGTAAGTTCATCTAGTGAATGGCCTAATTTGGTTGGGATTTTTGTGGACTCTATAACAATTTCTAAACACCTTGTATTTTTGATTACACAAGTGTGGTGAACTGACCCCACGTGCCTAATAGCTGTGG... | benign | 333,320 |
Regarding the variant found on chromosome X at position 41344088 in gene DDX3X (DEAD-box helicase 3 X-linked): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Intellectual_disability,_X-linked_102', 'Neurodevelopmental_disorder'] | AGTTCAGGTAAGGATTATTTTCTACCTTTTATCCAAAGTCTGTCACACAGGTGAATTGTCCTTTAAGTGACATCCTAGTATAACTAGGACGATTGATATTTGGTGTGCTATTTTCTTGTTTTCCCTACCATTAAATATATTTGGATGAGCACTTTAAATGAAGGTTGTGAGCTGTGTGCCGATTTCAAATAAAATCCTTATTCTTAATTTTGGCATCTGTGAGGCCTTTTAGGCTATACAACTTTATAGAAATGTAAAGATTACTGATTTTAGAAAACGAGGTTATGTAAATGATGCTGGTTAGAGAGCCTTATTTGTCA... | AGTTCAGGTAAGGATTATTTTCTACCTTTTATCCAAAGTCTGTCACACAGGTGAATTGTCCTTTAAGTGACATCCTAGTATAACTAGGACGATTGATATTTGGTGTGCTATTTTCTTGTTTTCCCTACCATTAAATATATTTGGATGAGCACTTTAAATGAAGGTTGTGAGCTGTGTGCCGATTTCAAATAAAATCCTTATTCTTAATTTTGGCATCTGTGAGGCCTTTTAGGCTATACAACTTTATAGAAATGTAAAGATTACTGATTTTAGAAAACGAGGTTATGTAAATGATGCTGGTTAGAGAGCCTTATTTGTCA... | pathogenic | 333,323 |
A mutation at chromosome position 41345388 on chromosome X in gene DDX3X (DEAD-box helicase 3 X-linked): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GTGCCCAAACAGGTAAGCTCAACTCATAAGAGTAAAACATCATATTTCTTCTGTAAAGGACTAGACAATAAAATATTTTATTTTTTATGGGTCATGCAGTTTTGCAGCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTATTCCGTAAGAGCTTTATTTATAAAAATAACAGGCTTTATTTACAAAATAGTCTCAGTTTGCTGACTCCTCTTAGAGGTGGAGCAGAGAAGCCACTTTTTGGAAAACTTAAGCATAAACTAAAAGTACTAATTATTAGTAATAGG... | GTGCCCAAACAGGTAAGCTCAACTCATAAGAGTAAAACATCATATTTCTTCTGTAAAGGACTAGACAATAAAATATTTTATTTTTTATGGGTCATGCAGTTTTGCAGCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTATTCCGTAAGAGCTTTATTTATAAAAATAACAGGCTTTATTTACAAAATAGTCTCAGTTTGCTGACTCCTCTTAGAGGTGGAGCAGAGAAGCCACTTTTTGGAAAACTTAAGCATAAACTAAAAGTACTAATTATTAGTAATAGG... | benign | 333,343 |
The mutation impacting DDX3X (DEAD-box helicase 3 X-linked) on chromosome X at position 41345482: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Intellectual_disability,_X-linked_102'] | TGCAGTTTTGCAGCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTATTCCGTAAGAGCTTTATTTATAAAAATAACAGGCTTTATTTACAAAATAGTCTCAGTTTGCTGACTCCTCTTAGAGGTGGAGCAGAGAAGCCACTTTTTGGAAAACTTAAGCATAAACTAAAAGTACTAATTATTAGTAATAGGGTAGTTAAAAAACACTGTCATCTACCAATGTCTGTTTAAAAGTAATGAGCAGGATTTGTTTGTTTGTTTTTGAACAGGGTCTGGAAAAACTGCA... | TGCAGTTTTGCAGCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTATTCCGTAAGAGCTTTATTTATAAAAATAACAGGCTTTATTTACAAAATAGTCTCAGTTTGCTGACTCCTCTTAGAGGTGGAGCAGAGAAGCCACTTTTTGGAAAACTTAAGCATAAACTAAAAGTACTAATTATTAGTAATAGGGTAGTTAAAAAACACTGTCATCTACCAATGTCTGTTTAAAAGTAATGAGCAGGATTTGTTTGTTTGTTTTTGAACAGGGTCTGGAAAAACTGCA... | pathogenic | 333,346 |
Is the chromosome X, position 41346541 variant in DDX3X (DEAD-box helicase 3 X-linked) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_X-linked_102', 'Rare_genetic_intellectual_disability', 'X-linked_intellectual_disability-hypotonia-movement_disorder_syndrome'] | CATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTACTGCCCATTAGTTTTGTGGTGATGTTAACAT... | CATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTACTGCCCATTAGTTTTGTGGTGATGTTAACAT... | pathogenic | 333,361 |
Variant on chromosome X, at position 41346541, affecting DDX3X (DEAD-box helicase 3 X-linked): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Intellectual_disability'] | CATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTACTGCCCATTAGTTTTGTGGTGATGTTAACAT... | CATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTACTGCCCATTAGTTTTGTGGTGATGTTAACAT... | pathogenic | 333,362 |
Chromosome X, position 41346916, gene DDX3X (DEAD-box helicase 3 X-linked): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Intellectual_disability', 'Intellectual_disability,_X-linked_102'] | AAGCTTGTTCATGGTAATTTTAATGTTGAAAAATCAGTAACATCTTGGTTGAGACTTACAACAATGATCAGCTCGTGGGACAGTCAACTAGGATGGGCTAATTTGACTGTGTAATCTTGAATGACTTATGTAGTGGCAAGAATCCTGTGCTGTGTCTGTAAAATTATGCAGTGTGAGGCACCATCTTAATGAATATATAATTGTAATAACCTATACAATTGTATTTGTAATTATACTAACAGCCATACTAAAACCATGTTGATTTCTCCTCAAATTCTAAACTCAGGCTTGTTTTTTTTCATGACATGACAGATACTTGG... | AAGCTTGTTCATGGTAATTTTAATGTTGAAAAATCAGTAACATCTTGGTTGAGACTTACAACAATGATCAGCTCGTGGGACAGTCAACTAGGATGGGCTAATTTGACTGTGTAATCTTGAATGACTTATGTAGTGGCAAGAATCCTGTGCTGTGTCTGTAAAATTATGCAGTGTGAGGCACCATCTTAATGAATATATAATTGTAATAACCTATACAATTGTATTTGTAATTATACTAACAGCCATACTAAAACCATGTTGATTTCTCCTCAAATTCTAAACTCAGGCTTGTTTTTTTTCATGACATGACAGATACTTGG... | pathogenic | 333,369 |
Does the chromosome X mutation at position 41473490 within gene NYX (nyctalopin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Congenital_stationary_night_blindness_1A', 'NYX-related_disorder'] | CTACGTGTAAGTGTGCATTCATCTAAAGACATGTGATTAACTTCTTTTAATCTATAACTAAGGTCTGAGTCCTGAAGACCTTCCTCTGGAGCCTCAGTAAATTTACTTAATCTAGATGGGTCCAGGTGCTGGGGTGATTACCCTTATTTTGTCTCCTGCTAAATCATGGAGGTTTGGGGAGTTCCTCCAGACCCCCAATAAACTTGTCTGTGGAGGTCTGGGGAGTTTAGACCCCCAGTAAAACTTGTTTAATCCTAAATGGGTCCTGTTAAGAATTATTTCATAATCTTGTCATGCTTTAAGGCCCAGGAAAGGCTTGG... | CTACGTGTAAGTGTGCATTCATCTAAAGACATGTGATTAACTTCTTTTAATCTATAACTAAGGTCTGAGTCCTGAAGACCTTCCTCTGGAGCCTCAGTAAATTTACTTAATCTAGATGGGTCCAGGTGCTGGGGTGATTACCCTTATTTTGTCTCCTGCTAAATCATGGAGGTTTGGGGAGTTCCTCCAGACCCCCAATAAACTTGTCTGTGGAGGTCTGGGGAGTTTAGACCCCCAGTAAAACTTGTTTAATCCTAAATGGGTCCTGTTAAGAATTATTTCATAATCTTGTCATGCTTTAAGGCCCAGGAAAGGCTTGG... | pathogenic | 333,382 |
Is chromosome X, position 41473528, gene NYX (nyctalopin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Congenital_stationary_night_blindness_1A', 'Retinal_dystrophy'] | AACTTCTTTTAATCTATAACTAAGGTCTGAGTCCTGAAGACCTTCCTCTGGAGCCTCAGTAAATTTACTTAATCTAGATGGGTCCAGGTGCTGGGGTGATTACCCTTATTTTGTCTCCTGCTAAATCATGGAGGTTTGGGGAGTTCCTCCAGACCCCCAATAAACTTGTCTGTGGAGGTCTGGGGAGTTTAGACCCCCAGTAAAACTTGTTTAATCCTAAATGGGTCCTGTTAAGAATTATTTCATAATCTTGTCATGCTTTAAGGCCCAGGAAAGGCTTGGGCAAAACTCTTGGTGGGCTTTTGTTACCTTCCAGCCTT... | AACTTCTTTTAATCTATAACTAAGGTCTGAGTCCTGAAGACCTTCCTCTGGAGCCTCAGTAAATTTACTTAATCTAGATGGGTCCAGGTGCTGGGGTGATTACCCTTATTTTGTCTCCTGCTAAATCATGGAGGTTTGGGGAGTTCCTCCAGACCCCCAATAAACTTGTCTGTGGAGGTCTGGGGAGTTTAGACCCCCAGTAAAACTTGTTTAATCCTAAATGGGTCCTGTTAAGAATTATTTCATAATCTTGTCATGCTTTAAGGCCCAGGAAAGGCTTGGGCAAAACTCTTGGTGGGCTTTTGTTACCTTCCAGCCTT... | pathogenic | 333,383 |
Variant on chromosome X, at position 41557014, affecting CASK (calcium/calmodulin dependent serine protein kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTATTTTCAGCAATCCAGCCTATAAAATTACAAGTCTCTGCATTTGCATTTAAAATCTATACCTCTAAAGTGCTGGCAATTTGAAAGTTACTTGCCAGTGTTAGGCAGCACTTAACTTTTCATGTTTGAACTAACACAGGTATATCAGGATGTGAAGCTAAGATAATTTATATTCTTTTCTTATTTTTCATTGCAAATGGCTTTTAGAAATACACATGCAAATACAAATTTAAGAAAAAGCTTTCAACTTCAGAAAATTTTTGCTTAAAAATGTTCATCAGCATTTTAAGAATAACTTTTTAGTTAGTCTTAGAATTCTA... | TTATTTTCAGCAATCCAGCCTATAAAATTACAAGTCTCTGCATTTGCATTTAAAATCTATACCTCTAAAGTGCTGGCAATTTGAAAGTTACTTGCCAGTGTTAGGCAGCACTTAACTTTTCATGTTTGAACTAACACAGGTATATCAGGATGTGAAGCTAAGATAATTTATATTCTTTTCTTATTTTTCATTGCAAATGGCTTTTAGAAATACACATGCAAATACAAATTTAAGAAAAAGCTTTCAACTTCAGAAAATTTTTGCTTAAAAATGTTCATCAGCATTTTAAGAATAACTTTTTAGTTAGTCTTAGAATTCTA... | benign | 333,429 |
Regarding the variant found on chromosome X at position 41561582 in gene CASK (calcium/calmodulin dependent serine protein kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Intellectual_disability,_CASK-related,_X-linked', 'Syndromic_X-linked_intellectual_disability_Najm_type'] | TTCTCTACATTTTGCTCAGATTTCAGCCTGCAAAAAGTTCAAAGTGCTGAGGAGATCCACATGGAAGCAGGGCTGAGTAGGTGGATGGGACCTACTCTGTTCCGTTATCTTTGTTGTAAAATTGGTGTGCAGTGATCTAACAGCACAGGCAGAAACAATTTCCCAGAAAGCAAAAACATACAGCCATCAGCAGACAGTTAGTTAAGAACTCAGAGCAGATGGGGGTGGTTTGTTAGAGTCATTACCTCACAGGACGAAGACTGAGTGCGGTAACTTGGCACAATCTTGAAGGTAATACTCCCCCGCATTTCCCTCTGGAG... | TTCTCTACATTTTGCTCAGATTTCAGCCTGCAAAAAGTTCAAAGTGCTGAGGAGATCCACATGGAAGCAGGGCTGAGTAGGTGGATGGGACCTACTCTGTTCCGTTATCTTTGTTGTAAAATTGGTGTGCAGTGATCTAACAGCACAGGCAGAAACAATTTCCCAGAAAGCAAAAACATACAGCCATCAGCAGACAGTTAGTTAAGAACTCAGAGCAGATGGGGGTGGTTTGTTAGAGTCATTACCTCACAGGACGAAGACTGAGTGCGGTAACTTGGCACAATCTTGAAGGTAATACTCCCCCGCATTTCCCTCTGGAG... | pathogenic | 333,434 |
The genetic variant at chromosome X, position 41569751, affecting gene CASK (calcium/calmodulin dependent serine protein kinase): benign or pathogenic? Disease name(s) if pathogenic? | benign | TAGAATTACCATTTGACCCAGCCATGTCATTACTGAGTATATACCTAAAGGATTATAAATCATGCTACTATAAAGACACATGCACACGTATGTTTATTGCAGCACTATTTACAATAGCAAAGACTTGGGACCAACCCAAATGTCCATCATTGATAGACTGGATTAAGAAAATGTGGCACATATACACCAGGGAATACTATGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGCAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAACACCGTATGTTCTCACTCATA... | TAGAATTACCATTTGACCCAGCCATGTCATTACTGAGTATATACCTAAAGGATTATAAATCATGCTACTATAAAGACACATGCACACGTATGTTTATTGCAGCACTATTTACAATAGCAAAGACTTGGGACCAACCCAAATGTCCATCATTGATAGACTGGATTAAGAAAATGTGGCACATATACACCAGGGAATACTATGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGCAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAACACCGTATGTTCTCACTCATA... | benign | 333,437 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 41569751, gene CASK (calcium/calmodulin dependent serine protein kinase). What disease(s) is it linked to if pathogenic? | benign | TAGAATTACCATTTGACCCAGCCATGTCATTACTGAGTATATACCTAAAGGATTATAAATCATGCTACTATAAAGACACATGCACACGTATGTTTATTGCAGCACTATTTACAATAGCAAAGACTTGGGACCAACCCAAATGTCCATCATTGATAGACTGGATTAAGAAAATGTGGCACATATACACCAGGGAATACTATGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGCAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAACACCGTATGTTCTCACTCATA... | TAGAATTACCATTTGACCCAGCCATGTCATTACTGAGTATATACCTAAAGGATTATAAATCATGCTACTATAAAGACACATGCACACGTATGTTTATTGCAGCACTATTTACAATAGCAAAGACTTGGGACCAACCCAAATGTCCATCATTGATAGACTGGATTAAGAAAATGTGGCACATATACACCAGGGAATACTATGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGCAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAACACCGTATGTTCTCACTCATA... | benign | 333,438 |
Regarding the variant at chromosome X and position 41665535, affecting gene CASK (calcium/calmodulin dependent serine protein kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGAGGGAATTTTTAAATGACTTAATTTTTGCACATATGTGAATAGTCTAAGTCTTTTTACCAAGAAACAAAAATAACTATTCAATGTTTTAAAAATAGACGAAATAAAATACCAGAGTCTGTTGGAATGAAGCACATTGCCTTGGAAACTAGGAAGTTAACAACTGAACAAACACAAAGGAAGAATTCTATTATTAGCAAATGCCTATAACTCAAAAACGCAGGTGGGGGATTATTATTATATGGTACCTACCTCACAAGTTGCTGTGAGGGTTAAATGAATTAAACTATTCTAAGCACTTTACTTATGTAAAGTATGCT... | AGAGGGAATTTTTAAATGACTTAATTTTTGCACATATGTGAATAGTCTAAGTCTTTTTACCAAGAAACAAAAATAACTATTCAATGTTTTAAAAATAGACGAAATAAAATACCAGAGTCTGTTGGAATGAAGCACATTGCCTTGGAAACTAGGAAGTTAACAACTGAACAAACACAAAGGAAGAATTCTATTATTAGCAAATGCCTATAACTCAAAAACGCAGGTGGGGGATTATTATTATATGGTACCTACCTCACAAGTTGCTGTGAGGGTTAAATGAATTAAACTATTCTAAGCACTTTACTTATGTAAAGTATGCT... | benign | 333,466 |
Is the variant located on chromosome X at position 41671549, gene CASK (calcium/calmodulin dependent serine protein kinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CATTTCATTTCATCCCATTAACCTTGGTAATATAATCATCAGAAATTATTTGTTATAATTACGTAGTCTTAACATAGAAATGATCTGTATAAGTACCAGAATTGAGAGAGTTAGCTTAACAGTGACATTTGTTTAAAAAATAATTTAGGATTTTCACTTGATTACAAGATCAGTATGAACCATCAGTGCTATGTAGTTGTCCAAAAAGCTAATGCAATTTGGGGAACTCGAGGGAAATTTAAGGCCCAGAACACAAAAAAGTGATAGCCCAATGCTACTGTGCACTGGATCGGCTGTACTGTACTACCTGTAGTTAGAGT... | CATTTCATTTCATCCCATTAACCTTGGTAATATAATCATCAGAAATTATTTGTTATAATTACGTAGTCTTAACATAGAAATGATCTGTATAAGTACCAGAATTGAGAGAGTTAGCTTAACAGTGACATTTGTTTAAAAAATAATTTAGGATTTTCACTTGATTACAAGATCAGTATGAACCATCAGTGCTATGTAGTTGTCCAAAAAGCTAATGCAATTTGGGGAACTCGAGGGAAATTTAAGGCCCAGAACACAAAAAAGTGATAGCCCAATGCTACTGTGCACTGGATCGGCTGTACTGTACTACCTGTAGTTAGAGT... | benign | 333,472 |
For chromosome X, position 41671549, gene CASK (calcium/calmodulin dependent serine protein kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CATTTCATTTCATCCCATTAACCTTGGTAATATAATCATCAGAAATTATTTGTTATAATTACGTAGTCTTAACATAGAAATGATCTGTATAAGTACCAGAATTGAGAGAGTTAGCTTAACAGTGACATTTGTTTAAAAAATAATTTAGGATTTTCACTTGATTACAAGATCAGTATGAACCATCAGTGCTATGTAGTTGTCCAAAAAGCTAATGCAATTTGGGGAACTCGAGGGAAATTTAAGGCCCAGAACACAAAAAAGTGATAGCCCAATGCTACTGTGCACTGGATCGGCTGTACTGTACTACCTGTAGTTAGAGT... | CATTTCATTTCATCCCATTAACCTTGGTAATATAATCATCAGAAATTATTTGTTATAATTACGTAGTCTTAACATAGAAATGATCTGTATAAGTACCAGAATTGAGAGAGTTAGCTTAACAGTGACATTTGTTTAAAAAATAATTTAGGATTTTCACTTGATTACAAGATCAGTATGAACCATCAGTGCTATGTAGTTGTCCAAAAAGCTAATGCAATTTGGGGAACTCGAGGGAAATTTAAGGCCCAGAACACAAAAAAGTGATAGCCCAATGCTACTGTGCACTGGATCGGCTGTACTGTACTACCTGTAGTTAGAGT... | benign | 333,473 |
Is chromosome X, position 43973478, gene NDP (norrin cystine knot growth factor NDP) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TTTTTCCCTTGACAGTGTCATTGGAACTCGAATTAAGATTGAAAACTCCACAGGCACATTTCCATCTGTGGGTGTCAGCTGCTTGGTACACAGTCGTAAGAAGGCCTCAGCCAGTTCTCCCGTTACCTGAACCAAATGTATTTTAAAATAAATGATGCAAAACATTGCATTTTGTGTTCAAATACTCTCATGTAATGATCTGAATAATAGTCTAAGAAAATTGTTTTGATTCAGCTAAATGCTTTGCTAACCGCAGTTTTTTTAAAAAAAAATTACAATAAAATTTTACAGCAATGGAATCCATAGTGTCTTTTATGGCT... | TTTTTCCCTTGACAGTGTCATTGGAACTCGAATTAAGATTGAAAACTCCACAGGCACATTTCCATCTGTGGGTGTCAGCTGCTTGGTACACAGTCGTAAGAAGGCCTCAGCCAGTTCTCCCGTTACCTGAACCAAATGTATTTTAAAATAAATGATGCAAAACATTGCATTTTGTGTTCAAATACTCTCATGTAATGATCTGAATAATAGTCTAAGAAAATTGTTTTGATTCAGCTAAATGCTTTGCTAACCGCAGTTTTTTTAAAAAAAAATTACAATAAAATTTTACAGCAATGGAATCCATAGTGTCTTTTATGGCT... | benign | 333,522 |
Gene KDM6A (lysine demethylase 6A) variant at chromosome X, position 44873579—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CAATGTATTAATTTAGCCGTAGAAAAGATTTGGCCCTTTGTACACACTCATTCAAGCAAAATGGAGTATCATAAAGGGAAAGGTGTTTCAGAGGAAGTAATTAAACATGAACTATAATCTATACAAAACTACAGTTTGTTCGTCTAGTTACTAGTCTCAGGGGAACAATTTAAAACTGTGTGCAAAATCAGTTGGGATTCCCATAGCTTCCCGCTGAATACTGGTAGGAATTACTGGGTCAGCACTGAATTGTCTTCGTCATATTTTGAAATCCAAGTTTAAATATATAATTTTTATTGGTTACAGGTGGAAAACCTATT... | CAATGTATTAATTTAGCCGTAGAAAAGATTTGGCCCTTTGTACACACTCATTCAAGCAAAATGGAGTATCATAAAGGGAAAGGTGTTTCAGAGGAAGTAATTAAACATGAACTATAATCTATACAAAACTACAGTTTGTTCGTCTAGTTACTAGTCTCAGGGGAACAATTTAAAACTGTGTGCAAAATCAGTTGGGATTCCCATAGCTTCCCGCTGAATACTGGTAGGAATTACTGGGTCAGCACTGAATTGTCTTCGTCATATTTTGAAATCCAAGTTTAAATATATAATTTTTATTGGTTACAGGTGGAAAACCTATT... | benign | 333,525 |
Determine whether the variant at chromosome X, position 44873590, in gene KDM6A (lysine demethylase 6A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTTAGCCGTAGAAAAGATTTGGCCCTTTGTACACACTCATTCAAGCAAAATGGAGTATCATAAAGGGAAAGGTGTTTCAGAGGAAGTAATTAAACATGAACTATAATCTATACAAAACTACAGTTTGTTCGTCTAGTTACTAGTCTCAGGGGAACAATTTAAAACTGTGTGCAAAATCAGTTGGGATTCCCATAGCTTCCCGCTGAATACTGGTAGGAATTACTGGGTCAGCACTGAATTGTCTTCGTCATATTTTGAAATCCAAGTTTAAATATATAATTTTTATTGGTTACAGGTGGAAAACCTATTGAAAATATAAA... | TTTAGCCGTAGAAAAGATTTGGCCCTTTGTACACACTCATTCAAGCAAAATGGAGTATCATAAAGGGAAAGGTGTTTCAGAGGAAGTAATTAAACATGAACTATAATCTATACAAAACTACAGTTTGTTCGTCTAGTTACTAGTCTCAGGGGAACAATTTAAAACTGTGTGCAAAATCAGTTGGGATTCCCATAGCTTCCCGCTGAATACTGGTAGGAATTACTGGGTCAGCACTGAATTGTCTTCGTCATATTTTGAAATCCAAGTTTAAATATATAATTTTTATTGGTTACAGGTGGAAAACCTATTGAAAATATAAA... | benign | 333,526 |
Does the variant impacting KDM6A (lysine demethylase 6A) on chromosome X, position 44873590, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTTAGCCGTAGAAAAGATTTGGCCCTTTGTACACACTCATTCAAGCAAAATGGAGTATCATAAAGGGAAAGGTGTTTCAGAGGAAGTAATTAAACATGAACTATAATCTATACAAAACTACAGTTTGTTCGTCTAGTTACTAGTCTCAGGGGAACAATTTAAAACTGTGTGCAAAATCAGTTGGGATTCCCATAGCTTCCCGCTGAATACTGGTAGGAATTACTGGGTCAGCACTGAATTGTCTTCGTCATATTTTGAAATCCAAGTTTAAATATATAATTTTTATTGGTTACAGGTGGAAAACCTATTGAAAATATAAA... | TTTAGCCGTAGAAAAGATTTGGCCCTTTGTACACACTCATTCAAGCAAAATGGAGTATCATAAAGGGAAAGGTGTTTCAGAGGAAGTAATTAAACATGAACTATAATCTATACAAAACTACAGTTTGTTCGTCTAGTTACTAGTCTCAGGGGAACAATTTAAAACTGTGTGCAAAATCAGTTGGGATTCCCATAGCTTCCCGCTGAATACTGGTAGGAATTACTGGGTCAGCACTGAATTGTCTTCGTCATATTTTGAAATCCAAGTTTAAATATATAATTTTTATTGGTTACAGGTGGAAAACCTATTGAAAATATAAA... | benign | 333,527 |
Classify the chromosome X variant at position 45051692 affecting gene KDM6A (lysine demethylase 6A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TCTGATTACATTACTTGAAATCATTCAGTGGTTCTCCATTGTTTTAGGATACAGTCAGTAGTCTTTAAATGGATTAGGGAGGTCTTTGTGAAGTAGTCTTTGCATTTTCTGTCCAGCCTGCTAGTACTCTAAACTTAATATGCGCTCGTTCTTCCTCTGAGAAGTATTATAATGTTATCATACACAGCACAATATGCTTAATTTGTTTTTCTTGTATATATTTTTCACTACTGTGTAGTCTTAGCAGTTCCTGTTATGTATTAGGTGTTTAACAAATATTTATCAATTGAAGGAATTGAATAACTTGGCCCTTATCCTTG... | TCTGATTACATTACTTGAAATCATTCAGTGGTTCTCCATTGTTTTAGGATACAGTCAGTAGTCTTTAAATGGATTAGGGAGGTCTTTGTGAAGTAGTCTTTGCATTTTCTGTCCAGCCTGCTAGTACTCTAAACTTAATATGCGCTCGTTCTTCCTCTGAGAAGTATTATAATGTTATCATACACAGCACAATATGCTTAATTTGTTTTTCTTGTATATATTTTTCACTACTGTGTAGTCTTAGCAGTTCCTGTTATGTATTAGGTGTTTAACAAATATTTATCAATTGAAGGAATTGAATAACTTGGCCCTTATCCTTG... | benign | 333,542 |
Evaluate if the mutation on chromosome X at position 45069978 in KDM6A (lysine demethylase 6A) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Kabuki_syndrome_2'] | GTGTGAGCCACTGCGCCTGGCCAATGTGTATCAACTTTTAATATATCTAGTGTTTTAGGTAGATAAGCCTATTGAGTAAAAACATTAGTTTAAAATTTTCAGCTTCAGAAACTGATTTTAGGGGCATGCTAGCTGACTTTAACTAGATGATTAAATGCACCTTTTAGTATATAAATATCTTGTTATCAGCTATAGTTTTATTCTTTTATAGCTTATTACTGACAAAATGCTCTAACCTTGTTGCTGAAGTAATCTCAACTCCAAATGTAAACTCGTTTTATGATTCCAATGTTACTTTAATCAGTGTTGCTGAAAAATTG... | GTGTGAGCCACTGCGCCTGGCCAATGTGTATCAACTTTTAATATATCTAGTGTTTTAGGTAGATAAGCCTATTGAGTAAAAACATTAGTTTAAAATTTTCAGCTTCAGAAACTGATTTTAGGGGCATGCTAGCTGACTTTAACTAGATGATTAAATGCACCTTTTAGTATATAAATATCTTGTTATCAGCTATAGTTTTATTCTTTTATAGCTTATTACTGACAAAATGCTCTAACCTTGTTGCTGAAGTAATCTCAACTCCAAATGTAAACTCGTTTTATGATTCCAATGTTACTTTAATCAGTGTTGCTGAAAAATTG... | pathogenic | 333,572 |
Does the chromosome X mutation at position 45076679 within gene KDM6A (lysine demethylase 6A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCTGGTTATTTTTAAATCTGATTCTTGTTTAGTTTATCTTATTGTTGCAGTGGTCAGTGGTATACATTAAAAGGCAGTTATAATACTTTTGCTTCTTTCATGTCTAAAATTGTAATTGCAACATTCAAGTGATTGAATTGTTGTCAGCTCCCTTAGTCATGCCCCACCTTTTTCTTTTCTATTTTAAAATATTGGCAACAACATTTTCCATTGTTTTACTTTGTCATTTGTCTCTTTTTTAATTGTTACAGATCTGTGTAAATGACAGAGACAGAATTCTACTAATCTGTCAAACCTTGTTTTCTAGTCTCATCTCTCAA... | GCTGGTTATTTTTAAATCTGATTCTTGTTTAGTTTATCTTATTGTTGCAGTGGTCAGTGGTATACATTAAAAGGCAGTTATAATACTTTTGCTTCTTTCATGTCTAAAATTGTAATTGCAACATTCAAGTGATTGAATTGTTGTCAGCTCCCTTAGTCATGCCCCACCTTTTTCTTTTCTATTTTAAAATATTGGCAACAACATTTTCCATTGTTTTACTTTGTCATTTGTCTCTTTTTTAATTGTTACAGATCTGTGTAAATGACAGAGACAGAATTCTACTAATCTGTCAAACCTTGTTTTCTAGTCTCATCTCTCAA... | benign | 333,575 |
Variant on chromosome X, at position 45076679, affecting KDM6A (lysine demethylase 6A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCTGGTTATTTTTAAATCTGATTCTTGTTTAGTTTATCTTATTGTTGCAGTGGTCAGTGGTATACATTAAAAGGCAGTTATAATACTTTTGCTTCTTTCATGTCTAAAATTGTAATTGCAACATTCAAGTGATTGAATTGTTGTCAGCTCCCTTAGTCATGCCCCACCTTTTTCTTTTCTATTTTAAAATATTGGCAACAACATTTTCCATTGTTTTACTTTGTCATTTGTCTCTTTTTTAATTGTTACAGATCTGTGTAAATGACAGAGACAGAATTCTACTAATCTGTCAAACCTTGTTTTCTAGTCTCATCTCTCAA... | GCTGGTTATTTTTAAATCTGATTCTTGTTTAGTTTATCTTATTGTTGCAGTGGTCAGTGGTATACATTAAAAGGCAGTTATAATACTTTTGCTTCTTTCATGTCTAAAATTGTAATTGCAACATTCAAGTGATTGAATTGTTGTCAGCTCCCTTAGTCATGCCCCACCTTTTTCTTTTCTATTTTAAAATATTGGCAACAACATTTTCCATTGTTTTACTTTGTCATTTGTCTCTTTTTTAATTGTTACAGATCTGTGTAAATGACAGAGACAGAATTCTACTAATCTGTCAAACCTTGTTTTCTAGTCTCATCTCTCAA... | benign | 333,576 |
Gene KDM6A (lysine demethylase 6A) variant at chromosome X, position 45076679—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GCTGGTTATTTTTAAATCTGATTCTTGTTTAGTTTATCTTATTGTTGCAGTGGTCAGTGGTATACATTAAAAGGCAGTTATAATACTTTTGCTTCTTTCATGTCTAAAATTGTAATTGCAACATTCAAGTGATTGAATTGTTGTCAGCTCCCTTAGTCATGCCCCACCTTTTTCTTTTCTATTTTAAAATATTGGCAACAACATTTTCCATTGTTTTACTTTGTCATTTGTCTCTTTTTTAATTGTTACAGATCTGTGTAAATGACAGAGACAGAATTCTACTAATCTGTCAAACCTTGTTTTCTAGTCTCATCTCTCAA... | GCTGGTTATTTTTAAATCTGATTCTTGTTTAGTTTATCTTATTGTTGCAGTGGTCAGTGGTATACATTAAAAGGCAGTTATAATACTTTTGCTTCTTTCATGTCTAAAATTGTAATTGCAACATTCAAGTGATTGAATTGTTGTCAGCTCCCTTAGTCATGCCCCACCTTTTTCTTTTCTATTTTAAAATATTGGCAACAACATTTTCCATTGTTTTACTTTGTCATTTGTCTCTTTTTTAATTGTTACAGATCTGTGTAAATGACAGAGACAGAATTCTACTAATCTGTCAAACCTTGTTTTCTAGTCTCATCTCTCAA... | benign | 333,577 |
Evaluate the clinical significance of the mutation at chromosome X, position 45076679 in gene KDM6A (lysine demethylase 6A): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GCTGGTTATTTTTAAATCTGATTCTTGTTTAGTTTATCTTATTGTTGCAGTGGTCAGTGGTATACATTAAAAGGCAGTTATAATACTTTTGCTTCTTTCATGTCTAAAATTGTAATTGCAACATTCAAGTGATTGAATTGTTGTCAGCTCCCTTAGTCATGCCCCACCTTTTTCTTTTCTATTTTAAAATATTGGCAACAACATTTTCCATTGTTTTACTTTGTCATTTGTCTCTTTTTTAATTGTTACAGATCTGTGTAAATGACAGAGACAGAATTCTACTAATCTGTCAAACCTTGTTTTCTAGTCTCATCTCTCAA... | GCTGGTTATTTTTAAATCTGATTCTTGTTTAGTTTATCTTATTGTTGCAGTGGTCAGTGGTATACATTAAAAGGCAGTTATAATACTTTTGCTTCTTTCATGTCTAAAATTGTAATTGCAACATTCAAGTGATTGAATTGTTGTCAGCTCCCTTAGTCATGCCCCACCTTTTTCTTTTCTATTTTAAAATATTGGCAACAACATTTTCCATTGTTTTACTTTGTCATTTGTCTCTTTTTTAATTGTTACAGATCTGTGTAAATGACAGAGACAGAATTCTACTAATCTGTCAAACCTTGTTTTCTAGTCTCATCTCTCAA... | benign | 333,578 |
Clinical significance of chromosome X, position 45082613, gene KDM6A (lysine demethylase 6A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Kabuki_syndrome_2'] | TTGCTTGTTGTCTTTGTTTAAAATTCTGCCAACTCATATTTTCAATCAAGATAGCATTTCTGCCTGTAAATTGTATATTTGTCTTCCTTTCCCCCTGCCGCTCCCTATATATTACAAAGAAATTCTTCTAATAAAAACTATCCTGTGACTTTACTGAGTTGCAGTGAATTCATTGTCCATATAACTCTGTAGTTCAGACTTTCAAGATACTTCAAGTACCTGGTAATATTATAGTCAGAAGAGAATAAATAGTAAGAAGGAGTCAAAGATCATCAAAGAAAAATTTGGAGGAAGAGTTGAAAAGCAAAGATAGTAAGAGG... | TTGCTTGTTGTCTTTGTTTAAAATTCTGCCAACTCATATTTTCAATCAAGATAGCATTTCTGCCTGTAAATTGTATATTTGTCTTCCTTTCCCCCTGCCGCTCCCTATATATTACAAAGAAATTCTTCTAATAAAAACTATCCTGTGACTTTACTGAGTTGCAGTGAATTCATTGTCCATATAACTCTGTAGTTCAGACTTTCAAGATACTTCAAGTACCTGGTAATATTATAGTCAGAAGAGAATAAATAGTAAGAAGGAGTCAAAGATCATCAAAGAAAAATTTGGAGGAAGAGTTGAAAAGCAAAGATAGTAAGAGG... | pathogenic | 333,593 |
Variant on chromosome X, at position 45090706, affecting KDM6A (lysine demethylase 6A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TAAGGAAAGGAACATTTTTACTGTGTAAGTTCTTCCTTCCCCAAAATATGAAATTTGAAGTGGTTAATTCAATTTTATAAAGTTCTTTTATGGGAAAGGTTGCTATGTTGTTTAAAAAGTACTTCATATCATGATGGAGAATAAGAAGCCAGATATTAAAATAAAAGCTTAATAATATCTAAGGAATGTTTCCAAAGTATATTGGTAGTAGTGGTCATGATTATTTGTGCATGTGCGTGATTGTTTGTTTTTGCTGAAGTTGTTTTGAACTGCATAGTTTTAATCAGCTAATCATCAAACTATATGGAGTCTGACATCCA... | TAAGGAAAGGAACATTTTTACTGTGTAAGTTCTTCCTTCCCCAAAATATGAAATTTGAAGTGGTTAATTCAATTTTATAAAGTTCTTTTATGGGAAAGGTTGCTATGTTGTTTAAAAAGTACTTCATATCATGATGGAGAATAAGAAGCCAGATATTAAAATAAAAGCTTAATAATATCTAAGGAATGTTTCCAAAGTATATTGGTAGTAGTGGTCATGATTATTTGTGCATGTGCGTGATTGTTTGTTTTTGCTGAAGTTGTTTTGAACTGCATAGTTTTAATCAGCTAATCATCAAACTATATGGAGTCTGACATCCA... | benign | 333,608 |
Chromosome X, position 45090706, gene KDM6A (lysine demethylase 6A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TAAGGAAAGGAACATTTTTACTGTGTAAGTTCTTCCTTCCCCAAAATATGAAATTTGAAGTGGTTAATTCAATTTTATAAAGTTCTTTTATGGGAAAGGTTGCTATGTTGTTTAAAAAGTACTTCATATCATGATGGAGAATAAGAAGCCAGATATTAAAATAAAAGCTTAATAATATCTAAGGAATGTTTCCAAAGTATATTGGTAGTAGTGGTCATGATTATTTGTGCATGTGCGTGATTGTTTGTTTTTGCTGAAGTTGTTTTGAACTGCATAGTTTTAATCAGCTAATCATCAAACTATATGGAGTCTGACATCCA... | TAAGGAAAGGAACATTTTTACTGTGTAAGTTCTTCCTTCCCCAAAATATGAAATTTGAAGTGGTTAATTCAATTTTATAAAGTTCTTTTATGGGAAAGGTTGCTATGTTGTTTAAAAAGTACTTCATATCATGATGGAGAATAAGAAGCCAGATATTAAAATAAAAGCTTAATAATATCTAAGGAATGTTTCCAAAGTATATTGGTAGTAGTGGTCATGATTATTTGTGCATGTGCGTGATTGTTTGTTTTTGCTGAAGTTGTTTTGAACTGCATAGTTTTAATCAGCTAATCATCAAACTATATGGAGTCTGACATCCA... | benign | 333,609 |
Is the genetic variant on chromosome X, position 45090861, gene KDM6A (lysine demethylase 6A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Kabuki_syndrome_2'] | TTAAAATAAAAGCTTAATAATATCTAAGGAATGTTTCCAAAGTATATTGGTAGTAGTGGTCATGATTATTTGTGCATGTGCGTGATTGTTTGTTTTTGCTGAAGTTGTTTTGAACTGCATAGTTTTAATCAGCTAATCATCAAACTATATGGAGTCTGACATCCAGTCTCCTTTTCCTCAGAAATTAAGGGAAGTTCCTGGTACTTGTATTGCCACAGTGTTCCTGTTTATGGATTTAAATGACTTGATGTCAACTCCACCTTCCATTTACCTTTTAGGGATTTCTAGGTGCTCCAGGGAGAAGGCTTCAGTCAAAAATA... | TTAAAATAAAAGCTTAATAATATCTAAGGAATGTTTCCAAAGTATATTGGTAGTAGTGGTCATGATTATTTGTGCATGTGCGTGATTGTTTGTTTTTGCTGAAGTTGTTTTGAACTGCATAGTTTTAATCAGCTAATCATCAAACTATATGGAGTCTGACATCCAGTCTCCTTTTCCTCAGAAATTAAGGGAAGTTCCTGGTACTTGTATTGCCACAGTGTTCCTGTTTATGGATTTAAATGACTTGATGTCAACTCCACCTTCCATTTACCTTTTAGGGATTTCTAGGTGCTCCAGGGAGAAGGCTTCAGTCAAAAATA... | pathogenic | 333,612 |
A mutation at chromosome position 46758942 on chromosome X in gene SLC9A7: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AGGAAAATTCCACTGTTGTCTTTAAGCCTTAAGATAAAGGTGATTGAACTCCTCAGAACACGGAGTACTCTCCAGAAAATATATTTTCAAATCCCCATTTATTTTCCATCCCTTGAGCATGTGTTTACGAATCTGACAAATCTACCTCCTATTTCACATTGTCCTTTAAGAAACTGGGTCTAGGGCCTATTAAATAAAAATATTTTCACGGTTATCTATATAAAGGCAATTTTCATTTGCATCATGGCTTGGAGTCAATCACCTGCAATGACCACGTGCTTCAATTCCCCCCTGTCTGTCTTCTCAGGAAACCTCCCAGC... | AGGAAAATTCCACTGTTGTCTTTAAGCCTTAAGATAAAGGTGATTGAACTCCTCAGAACACGGAGTACTCTCCAGAAAATATATTTTCAAATCCCCATTTATTTTCCATCCCTTGAGCATGTGTTTACGAATCTGACAAATCTACCTCCTATTTCACATTGTCCTTTAAGAAACTGGGTCTAGGGCCTATTAAATAAAAATATTTTCACGGTTATCTATATAAAGGCAATTTTCATTTGCATCATGGCTTGGAGTCAATCACCTGCAATGACCACGTGCTTCAATTCCCCCCTGTCTGTCTTCTCAGGAAACCTCCCAGC... | benign | 333,634 |
Considering the genetic mutation at chromosome X, position 46837138, impacting RP2: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa'] | CCGCCACCATGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGCCCCCCCCGGCTCTGGTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCCATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCC... | CCGCCACCATGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGCCCCCCCCGGCTCTGGTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCCATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCC... | pathogenic | 333,638 |
Determine whether the variant at chromosome X, position 46853754, in gene RP2 (RP2 activator of ARL3 GTPase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Retinal_dystrophy'] | TGGATCACAAAGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGA... | TGGATCACAAAGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGA... | pathogenic | 333,647 |
Gene RP2 (RP2 activator of ARL3 GTPase) variant at chromosome X, position 46853781—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_2'] | CATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAGAAAAAAAAATACAAAA... | CATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAGAAAAAAAAATACAAAA... | pathogenic | 333,648 |
Does the chromosome X mutation at position 46853836 within gene RP2 (RP2 activator of ARL3 GTPase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Retinitis_pigmentosa_2'] | CAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAGAAAAAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGGTCCCAGCTACTTGGGAGGC... | CAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAGAAAAAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGGTCCCAGCTACTTGGGAGGC... | pathogenic | 333,650 |
Gene RP2 (RP2 activator of ARL3 GTPase) variant at chromosome position 46853899 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa'] | GGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAGAAAAAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGAGAATGGCCTGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGCGCCATTG... | GGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAGAAAAAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGAGAATGGCCTGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGCGCCATTG... | pathogenic | 333,651 |
Is the genetic variant on chromosome X, position 46853964, gene RP2 (RP2 activator of ARL3 GTPase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic | AATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAGAAAAAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGAGAATGGCCTGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGCGCCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCGAAAGAGAGAGAGAGAAAGGAGGGAGGGA... | AATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAGAAAAAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGAGAATGGCCTGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGCGCCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCGAAAGAGAGAGAGAGAAAGGAGGGAGGGA... | pathogenic | 333,652 |
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