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 8 at position 99501716, gene VPS13B (vacuolar protein sorting 13 homolog B), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cohen_syndrome'] | CTATTGTAGCAGATTTAGAACTACTTATTTTGTAAAAGCATTTATATGAAAACTGCACAAACAGTGAGATATTTGCTTTGCTTGGTGTATTTGGGACAAAGAGTAACTATACTGTCTTCAGGTTTAACTCTATAATTTTCTCTAATAGTAAATCCCAGAACACTGTTACTTTGCTATGCTTGGTGCCTAAGTGTTCTTGCAGTAAACACTTGCCTGTCATTCTATGAAAATCTTCCCCATTGGGCCTCCTTCTGAGGTTGCAGGGAAATTGAATTTTCTTCTGACTGAAAGATGTTATAAAACAATGAGGTTAAAATAAA... | CTATTGTAGCAGATTTAGAACTACTTATTTTGTAAAAGCATTTATATGAAAACTGCACAAACAGTGAGATATTTGCTTTGCTTGGTGTATTTGGGACAAAGAGTAACTATACTGTCTTCAGGTTTAACTCTATAATTTTCTCTAATAGTAAATCCCAGAACACTGTTACTTTGCTATGCTTGGTGCCTAAGTGTTCTTGCAGTAAACACTTGCCTGTCATTCTATGAAAATCTTCCCCATTGGGCCTCCTTCTGAGGTTGCAGGGAAATTGAATTTTCTTCTGACTGAAAGATGTTATAAAACAATGAGGTTAAAATAAA... | pathogenic | 137,772 |
The mutation in gene VPS13B (vacuolar protein sorting 13 homolog B) at chromosome 8, position 99511137—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cohen_syndrome'] | AGTAGTAACCCTCTCCCCAGTTTAGACACTTAGAACAGACAACATCACTGTGATCACTGTGGCCTCTTCCACTGGGGGTATACCTTAACAATCCTTCTCCATCTGTTATTGCTCATTGTCCAGCAACATGCTAATAAAACTGGTAGCACTTTTCTTGCTTTACTATACATCTTTTTGTTTTTGAGTGCAGAAATAAAAAAGAAGGGGAATCAAAAGAGAAACAGTGAAAATGTTGGGAACAGTGAAAAATGCTTTGAGAGCAGGCTATTATTGGGAAAGATGATTATACTGCACAACCATTTAATGCTTACTTTCCAGGG... | AGTAGTAACCCTCTCCCCAGTTTAGACACTTAGAACAGACAACATCACTGTGATCACTGTGGCCTCTTCCACTGGGGGTATACCTTAACAATCCTTCTCCATCTGTTATTGCTCATTGTCCAGCAACATGCTAATAAAACTGGTAGCACTTTTCTTGCTTTACTATACATCTTTTTGTTTTTGAGTGCAGAAATAAAAAAGAAGGGGAATCAAAAGAGAAACAGTGAAAATGTTGGGAACAGTGAAAAATGCTTTGAGAGCAGGCTATTATTGGGAAAGATGATTATACTGCACAACCATTTAATGCTTACTTTCCAGGG... | pathogenic | 137,786 |
Chromosome 8, position 99511415, gene VPS13B (vacuolar protein sorting 13 homolog B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cohen_syndrome'] | GATGATTATACTGCACAACCATTTAATGCTTACTTTCCAGGGTTTTTTTAATGGTCAATTAAAAAATACAAAAATAATTTATTTTCTTATCTTCCTTCATTATAAAGTCTAAATTAAAAGCAAAATTAGCAGTGATAACTGAATTGCATATTTTTTCCTCTCACCATGTCAGTGGGTGATAGGCAACAAAATGAGAGGAAGAAAATGGAAGCAATTGAAATGTAGGAGTGATGGGATAATATAGCTCAGACTCATTACTGCTTTCCTATTTCTCTTTTTTTTCTGTTTATGTGAATATATTTTCTTCTTTTTGCTTTGTT... | GATGATTATACTGCACAACCATTTAATGCTTACTTTCCAGGGTTTTTTTAATGGTCAATTAAAAAATACAAAAATAATTTATTTTCTTATCTTCCTTCATTATAAAGTCTAAATTAAAAGCAAAATTAGCAGTGATAACTGAATTGCATATTTTTTCCTCTCACCATGTCAGTGGGTGATAGGCAACAAAATGAGAGGAAGAAAATGGAAGCAATTGAAATGTAGGAGTGATGGGATAATATAGCTCAGACTCATTACTGCTTTCCTATTTCTCTTTTTTTTCTGTTTATGTGAATATATTTTCTTCTTTTTGCTTTGTT... | pathogenic | 137,790 |
Clinical significance of chromosome 8, position 99511486, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cohen_syndrome'] | AAATAATTTATTTTCTTATCTTCCTTCATTATAAAGTCTAAATTAAAAGCAAAATTAGCAGTGATAACTGAATTGCATATTTTTTCCTCTCACCATGTCAGTGGGTGATAGGCAACAAAATGAGAGGAAGAAAATGGAAGCAATTGAAATGTAGGAGTGATGGGATAATATAGCTCAGACTCATTACTGCTTTCCTATTTCTCTTTTTTTTCTGTTTATGTGAATATATTTTCTTCTTTTTGCTTTGTTCCAGTTCACTTCTCCTCTTAAAAATCTCCTCTTTGGACCCTACTAACTTTTTCAGGTGTTGGAAAGAGGGG... | AAATAATTTATTTTCTTATCTTCCTTCATTATAAAGTCTAAATTAAAAGCAAAATTAGCAGTGATAACTGAATTGCATATTTTTTCCTCTCACCATGTCAGTGGGTGATAGGCAACAAAATGAGAGGAAGAAAATGGAAGCAATTGAAATGTAGGAGTGATGGGATAATATAGCTCAGACTCATTACTGCTTTCCTATTTCTCTTTTTTTTCTGTTTATGTGAATATATTTTCTTCTTTTTGCTTTGTTCCAGTTCACTTCTCCTCTTAAAAATCTCCTCTTTGGACCCTACTAACTTTTTCAGGTGTTGGAAAGAGGGG... | pathogenic | 137,792 |
Chromosome 8, position 99575692, gene VPS13B (vacuolar protein sorting 13 homolog B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cohen_syndrome'] | GTTCCATTGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTATAGCCTTGTAGTATAGTTTGAAGTCAGGTAGCGTGATGCCTCCAGCTTTGTTCTTTTTGCTTAGGATTGTCTTGGCAATGAGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGGCAGTATGGCCATTTTCATGATATTGATTCTTCCTATCCATGAGCATGGAATGTCCTTCCATTTGTTTATATCCT... | GTTCCATTGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTATAGCCTTGTAGTATAGTTTGAAGTCAGGTAGCGTGATGCCTCCAGCTTTGTTCTTTTTGCTTAGGATTGTCTTGGCAATGAGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGGCAGTATGGCCATTTTCATGATATTGATTCTTCCTATCCATGAGCATGGAATGTCCTTCCATTTGTTTATATCCT... | pathogenic | 137,808 |
A mutation at chromosome position 99577566 on chromosome 8 in gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cohen_syndrome'] | TAAAATATGCAAATAGGCACTCTCAAAATAATAATGTAATTTTGCCATACATGTTTGTAGTACAAAGACTTGTACAAATTTAATGAAAATTGTCTTTGAAAATAATGAAATGGCTAATAATCTTTTACTCTATCTTTTAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACTGGAGCACCTGCTGTCATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGTTAGAACATAATTTTGATTTTATTTTAGTCTAAATAATGGAATTGCTCCTCT... | TAAAATATGCAAATAGGCACTCTCAAAATAATAATGTAATTTTGCCATACATGTTTGTAGTACAAAGACTTGTACAAATTTAATGAAAATTGTCTTTGAAAATAATGAAATGGCTAATAATCTTTTACTCTATCTTTTAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACTGGAGCACCTGCTGTCATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGTTAGAACATAATTTTGATTTTATTTTAGTCTAAATAATGGAATTGCTCCTCT... | pathogenic | 137,810 |
Is chromosome 8, position 99577567, gene VPS13B (vacuolar protein sorting 13 homolog B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cohen_syndrome', 'VPS13B-related_disorder'] | AAAATATGCAAATAGGCACTCTCAAAATAATAATGTAATTTTGCCATACATGTTTGTAGTACAAAGACTTGTACAAATTTAATGAAAATTGTCTTTGAAAATAATGAAATGGCTAATAATCTTTTACTCTATCTTTTAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACTGGAGCACCTGCTGTCATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGTTAGAACATAATTTTGATTTTATTTTAGTCTAAATAATGGAATTGCTCCTCTT... | AAAATATGCAAATAGGCACTCTCAAAATAATAATGTAATTTTGCCATACATGTTTGTAGTACAAAGACTTGTACAAATTTAATGAAAATTGTCTTTGAAAATAATGAAATGGCTAATAATCTTTTACTCTATCTTTTAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACTGGAGCACCTGCTGTCATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGTTAGAACATAATTTTGATTTTATTTTAGTCTAAATAATGGAATTGCTCCTCTT... | pathogenic | 137,811 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 99577608, gene VPS13B (vacuolar protein sorting 13 homolog B): what disease(s) if pathogenic? | pathogenic; ['Cohen_syndrome'] | TGCCATACATGTTTGTAGTACAAAGACTTGTACAAATTTAATGAAAATTGTCTTTGAAAATAATGAAATGGCTAATAATCTTTTACTCTATCTTTTAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACTGGAGCACCTGCTGTCATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGTTAGAACATAATTTTGATTTTATTTTAGTCTAAATAATGGAATTGCTCCTCTTTGTATGTTAGGGATTGCCACAGTTTCAGCCCATAGGACTTC... | TGCCATACATGTTTGTAGTACAAAGACTTGTACAAATTTAATGAAAATTGTCTTTGAAAATAATGAAATGGCTAATAATCTTTTACTCTATCTTTTAGCATACGGCGGCATCAAGAAAGGAGAGCAATTTTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACTGGAGCACCTGCTGTCATTTTCACCAAAGTAGTTTCTCCAGAAAATTTGCATACTGAGGTTAGAACATAATTTTGATTTTATTTTAGTCTAAATAATGGAATTGCTCCTCTTTGTATGTTAGGGATTGCCACAGTTTCAGCCCATAGGACTTC... | pathogenic | 137,813 |
Mutation found at chromosome 8 position 99641815, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cohen_syndrome', 'VPS13B-related_disorder'] | TTGAGACCAGGTTGGGCTACACTATGAGACCTCATTTCTACAAAAAATGTAAAAATAAGCTAGCCATGGTGGTGCATGCCTGTAATCCTAGCTCCTCCGAAGGCTGAAATGGGAGGCTTCCTTGAGCCACCACTGAGGGGTTGTAGGCTGCAGTGAGCTATGATCACACCACTGCACTCCAACCTGGGCAACAGAACAAGACTCTCTCTTTAAAAATAGTAATAATAATAATAATAATAATAATAATAATAATAATAATAAGAAGAAGAAGAAGAAGAAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG... | TTGAGACCAGGTTGGGCTACACTATGAGACCTCATTTCTACAAAAAATGTAAAAATAAGCTAGCCATGGTGGTGCATGCCTGTAATCCTAGCTCCTCCGAAGGCTGAAATGGGAGGCTTCCTTGAGCCACCACTGAGGGGTTGTAGGCTGCAGTGAGCTATGATCACACCACTGCACTCCAACCTGGGCAACAGAACAAGACTCTCTCTTTAAAAATAGTAATAATAATAATAATAATAATAATAATAATAATAATAATAAGAAGAAGAAGAAGAAGAAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG... | pathogenic | 137,814 |
Variant in gene VPS13B (vacuolar protein sorting 13 homolog B), located at chromosome 8 position 99641828: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cohen_syndrome', 'VPS13B-related_disorder'] | GGGCTACACTATGAGACCTCATTTCTACAAAAAATGTAAAAATAAGCTAGCCATGGTGGTGCATGCCTGTAATCCTAGCTCCTCCGAAGGCTGAAATGGGAGGCTTCCTTGAGCCACCACTGAGGGGTTGTAGGCTGCAGTGAGCTATGATCACACCACTGCACTCCAACCTGGGCAACAGAACAAGACTCTCTCTTTAAAAATAGTAATAATAATAATAATAATAATAATAATAATAATAATAATAAGAAGAAGAAGAAGAAGAAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA... | GGGCTACACTATGAGACCTCATTTCTACAAAAAATGTAAAAATAAGCTAGCCATGGTGGTGCATGCCTGTAATCCTAGCTCCTCCGAAGGCTGAAATGGGAGGCTTCCTTGAGCCACCACTGAGGGGTTGTAGGCTGCAGTGAGCTATGATCACACCACTGCACTCCAACCTGGGCAACAGAACAAGACTCTCTCTTTAAAAATAGTAATAATAATAATAATAATAATAATAATAATAATAATAATAAGAAGAAGAAGAAGAAGAAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA... | pathogenic | 137,815 |
A mutation at chromosome position 99641848 on chromosome 8 in gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cohen_syndrome', 'VPS13B-related_disorder'] | ATTTCTACAAAAAATGTAAAAATAAGCTAGCCATGGTGGTGCATGCCTGTAATCCTAGCTCCTCCGAAGGCTGAAATGGGAGGCTTCCTTGAGCCACCACTGAGGGGTTGTAGGCTGCAGTGAGCTATGATCACACCACTGCACTCCAACCTGGGCAACAGAACAAGACTCTCTCTTTAAAAATAGTAATAATAATAATAATAATAATAATAATAATAATAATAATAAGAAGAAGAAGAAGAAGAAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAGAA... | ATTTCTACAAAAAATGTAAAAATAAGCTAGCCATGGTGGTGCATGCCTGTAATCCTAGCTCCTCCGAAGGCTGAAATGGGAGGCTTCCTTGAGCCACCACTGAGGGGTTGTAGGCTGCAGTGAGCTATGATCACACCACTGCACTCCAACCTGGGCAACAGAACAAGACTCTCTCTTTAAAAATAGTAATAATAATAATAATAATAATAATAATAATAATAATAATAAGAAGAAGAAGAAGAAGAAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAGAA... | pathogenic | 137,816 |
Clinically, how would you classify the variant at chromosome 8, position 99641923, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cohen_syndrome'] | ATGGGAGGCTTCCTTGAGCCACCACTGAGGGGTTGTAGGCTGCAGTGAGCTATGATCACACCACTGCACTCCAACCTGGGCAACAGAACAAGACTCTCTCTTTAAAAATAGTAATAATAATAATAATAATAATAATAATAATAATAATAATAAGAAGAAGAAGAAGAAGAAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAGAAGCAATACCCAGTTACCCAGTACTTTGGGAGACATTTTTTATCGCTGATAGTAATGTAACTTAGTGCAGCCTTTTT... | ATGGGAGGCTTCCTTGAGCCACCACTGAGGGGTTGTAGGCTGCAGTGAGCTATGATCACACCACTGCACTCCAACCTGGGCAACAGAACAAGACTCTCTCTTTAAAAATAGTAATAATAATAATAATAATAATAATAATAATAATAATAATAAGAAGAAGAAGAAGAAGAAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAGAAGCAATACCCAGTTACCCAGTACTTTGGGAGACATTTTTTATCGCTGATAGTAATGTAACTTAGTGCAGCCTTTTT... | pathogenic | 137,817 |
Gene mutation in VPS13B (vacuolar protein sorting 13 homolog B) at chromosome 8, position 99641938—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cohen_syndrome'] | GAGCCACCACTGAGGGGTTGTAGGCTGCAGTGAGCTATGATCACACCACTGCACTCCAACCTGGGCAACAGAACAAGACTCTCTCTTTAAAAATAGTAATAATAATAATAATAATAATAATAATAATAATAATAATAAGAAGAAGAAGAAGAAGAAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAGAAGCAATACCCAGTTACCCAGTACTTTGGGAGACATTTTTTATCGCTGATAGTAATGTAACTTAGTGCAGCCTTTTTGGATAGATGTTTGAC... | GAGCCACCACTGAGGGGTTGTAGGCTGCAGTGAGCTATGATCACACCACTGCACTCCAACCTGGGCAACAGAACAAGACTCTCTCTTTAAAAATAGTAATAATAATAATAATAATAATAATAATAATAATAATAATAAGAAGAAGAAGAAGAAGAAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAGAAGCAATACCCAGTTACCCAGTACTTTGGGAGACATTTTTTATCGCTGATAGTAATGTAACTTAGTGCAGCCTTTTTGGATAGATGTTTGAC... | pathogenic | 137,818 |
Variant in gene VPS13B (vacuolar protein sorting 13 homolog B), located at chromosome 8 position 99642128: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cohen_syndrome'] | AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAGAAGCAATACCCAGTTACCCAGTACTTTGGGAGACATTTTTTATCGCTGATAGTAATGTAACTTAGTGCAGCCTTTTTGGATAGATGTTTGACAATATTCAGTAACTTTAAACTTTTTCGTACCATTTGCCTAATAATTCCACTTTTTAAAAATATTTTTGTTTTTGTTTTTGTTTTTGAGATAGGGTCTCACTCTGTCACCCAGGCTGGAGTGTGGTGGCATGATCTCGGTTCGCTGCAAACACCACCTCCCAGGCTCAAGCCATCAGCTTCCTAAGTAGCT... | AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAGAAGCAATACCCAGTTACCCAGTACTTTGGGAGACATTTTTTATCGCTGATAGTAATGTAACTTAGTGCAGCCTTTTTGGATAGATGTTTGACAATATTCAGTAACTTTAAACTTTTTCGTACCATTTGCCTAATAATTCCACTTTTTAAAAATATTTTTGTTTTTGTTTTTGTTTTTGAGATAGGGTCTCACTCTGTCACCCAGGCTGGAGTGTGGTGGCATGATCTCGGTTCGCTGCAAACACCACCTCCCAGGCTCAAGCCATCAGCTTCCTAAGTAGCT... | pathogenic | 137,824 |
Variant at chromosome position 99642128, chromosome 8, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cohen_syndrome'] | AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAGAAGCAATACCCAGTTACCCAGTACTTTGGGAGACATTTTTTATCGCTGATAGTAATGTAACTTAGTGCAGCCTTTTTGGATAGATGTTTGACAATATTCAGTAACTTTAAACTTTTTCGTACCATTTGCCTAATAATTCCACTTTTTAAAAATATTTTTGTTTTTGTTTTTGTTTTTGAGATAGGGTCTCACTCTGTCACCCAGGCTGGAGTGTGGTGGCATGATCTCGGTTCGCTGCAAACACCACCTCCCAGGCTCAAGCCATCAGCTTCCTAAGTAGCT... | AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAGAAGCAATACCCAGTTACCCAGTACTTTGGGAGACATTTTTTATCGCTGATAGTAATGTAACTTAGTGCAGCCTTTTTGGATAGATGTTTGACAATATTCAGTAACTTTAAACTTTTTCGTACCATTTGCCTAATAATTCCACTTTTTAAAAATATTTTTGTTTTTGTTTTTGTTTTTGAGATAGGGTCTCACTCTGTCACCCAGGCTGGAGTGTGGTGGCATGATCTCGGTTCGCTGCAAACACCACCTCCCAGGCTCAAGCCATCAGCTTCCTAAGTAGCT... | pathogenic | 137,825 |
Regarding the variant at chromosome 8 and position 99642267, affecting gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cohen_syndrome'] | TAACTTTAAACTTTTTCGTACCATTTGCCTAATAATTCCACTTTTTAAAAATATTTTTGTTTTTGTTTTTGTTTTTGAGATAGGGTCTCACTCTGTCACCCAGGCTGGAGTGTGGTGGCATGATCTCGGTTCGCTGCAAACACCACCTCCCAGGCTCAAGCCATCAGCTTCCTAAGTAGCTGGGACCACAGGGGCACACCACCAGGCCTGGCTAATTCTTCATATTTTTTGTAGAGATAAGGTTTTGTCATGTTGCCCAGCCTGGTCTCGAACCCCTGGTCTCAAGCAGTCTTCCCACCTCAGCCTCCCAAAGTGCTGGG... | TAACTTTAAACTTTTTCGTACCATTTGCCTAATAATTCCACTTTTTAAAAATATTTTTGTTTTTGTTTTTGTTTTTGAGATAGGGTCTCACTCTGTCACCCAGGCTGGAGTGTGGTGGCATGATCTCGGTTCGCTGCAAACACCACCTCCCAGGCTCAAGCCATCAGCTTCCTAAGTAGCTGGGACCACAGGGGCACACCACCAGGCCTGGCTAATTCTTCATATTTTTTGTAGAGATAAGGTTTTGTCATGTTGCCCAGCCTGGTCTCGAACCCCTGGTCTCAAGCAGTCTTCCCACCTCAGCCTCCCAAAGTGCTGGG... | pathogenic | 137,827 |
Variant on chromosome 8, at position 99642322, affecting VPS13B (vacuolar protein sorting 13 homolog B): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cohen_syndrome'] | TTTGTTTTTGTTTTTGTTTTTGAGATAGGGTCTCACTCTGTCACCCAGGCTGGAGTGTGGTGGCATGATCTCGGTTCGCTGCAAACACCACCTCCCAGGCTCAAGCCATCAGCTTCCTAAGTAGCTGGGACCACAGGGGCACACCACCAGGCCTGGCTAATTCTTCATATTTTTTGTAGAGATAAGGTTTTGTCATGTTGCCCAGCCTGGTCTCGAACCCCTGGTCTCAAGCAGTCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACCAGTGTGAATCACTGCACCTGGCCTAATAATTTCACTTCTAGGAGCCTGT... | TTTGTTTTTGTTTTTGTTTTTGAGATAGGGTCTCACTCTGTCACCCAGGCTGGAGTGTGGTGGCATGATCTCGGTTCGCTGCAAACACCACCTCCCAGGCTCAAGCCATCAGCTTCCTAAGTAGCTGGGACCACAGGGGCACACCACCAGGCCTGGCTAATTCTTCATATTTTTTGTAGAGATAAGGTTTTGTCATGTTGCCCAGCCTGGTCTCGAACCCCTGGTCTCAAGCAGTCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACCAGTGTGAATCACTGCACCTGGCCTAATAATTTCACTTCTAGGAGCCTGT... | pathogenic | 137,828 |
Is the genetic change at chromosome 8, position 99642361, within gene VPS13B (vacuolar protein sorting 13 homolog B) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cohen_syndrome'] | GTCACCCAGGCTGGAGTGTGGTGGCATGATCTCGGTTCGCTGCAAACACCACCTCCCAGGCTCAAGCCATCAGCTTCCTAAGTAGCTGGGACCACAGGGGCACACCACCAGGCCTGGCTAATTCTTCATATTTTTTGTAGAGATAAGGTTTTGTCATGTTGCCCAGCCTGGTCTCGAACCCCTGGTCTCAAGCAGTCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACCAGTGTGAATCACTGCACCTGGCCTAATAATTTCACTTCTAGGAGCCTGTCTGTCCTGAGAAAATATTACTAGGTGTTTGTCAGCACTA... | GTCACCCAGGCTGGAGTGTGGTGGCATGATCTCGGTTCGCTGCAAACACCACCTCCCAGGCTCAAGCCATCAGCTTCCTAAGTAGCTGGGACCACAGGGGCACACCACCAGGCCTGGCTAATTCTTCATATTTTTTGTAGAGATAAGGTTTTGTCATGTTGCCCAGCCTGGTCTCGAACCCCTGGTCTCAAGCAGTCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACCAGTGTGAATCACTGCACCTGGCCTAATAATTTCACTTCTAGGAGCCTGTCTGTCCTGAGAAAATATTACTAGGTGTTTGTCAGCACTA... | pathogenic | 137,830 |
Chromosome 8, position 99661365, gene VPS13B (vacuolar protein sorting 13 homolog B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cohen_syndrome', 'VPS13B-related_disorder'] | ACCTATATTGAATATGTGAACTCTTTATATATTAATGGTATCCCTTTTCTTTTACTGTCACATATGTTACAATTTCATCTTTTCTGTCATTTGACTTTTTATTCTGTTCATGGTGTTCTTTCACAAAAGTTTTGTGTGGTCATATATGTCAGCCCTTATGTTTTTTAGTTTTGGTGTCTTATTGTTATTATTGTTGATATACAATAGGATAGTTAATGCACGTTACCTCAGTATACATTATTTTGCTACTTGGAATCTATTTCTAGAAAAATGTAGAAAGTTGATTAAATATGCCACAAGGATAACCATTCTCAGCGCCA... | ACCTATATTGAATATGTGAACTCTTTATATATTAATGGTATCCCTTTTCTTTTACTGTCACATATGTTACAATTTCATCTTTTCTGTCATTTGACTTTTTATTCTGTTCATGGTGTTCTTTCACAAAAGTTTTGTGTGGTCATATATGTCAGCCCTTATGTTTTTTAGTTTTGGTGTCTTATTGTTATTATTGTTGATATACAATAGGATAGTTAATGCACGTTACCTCAGTATACATTATTTTGCTACTTGGAATCTATTTCTAGAAAAATGTAGAAAGTTGATTAAATATGCCACAAGGATAACCATTCTCAGCGCCA... | pathogenic | 137,833 |
A genetic variant at chromosome 8, position 99661370, affecting gene VPS13B (vacuolar protein sorting 13 homolog B)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cohen_syndrome', 'Inborn_genetic_diseases'] | TATTGAATATGTGAACTCTTTATATATTAATGGTATCCCTTTTCTTTTACTGTCACATATGTTACAATTTCATCTTTTCTGTCATTTGACTTTTTATTCTGTTCATGGTGTTCTTTCACAAAAGTTTTGTGTGGTCATATATGTCAGCCCTTATGTTTTTTAGTTTTGGTGTCTTATTGTTATTATTGTTGATATACAATAGGATAGTTAATGCACGTTACCTCAGTATACATTATTTTGCTACTTGGAATCTATTTCTAGAAAAATGTAGAAAGTTGATTAAATATGCCACAAGGATAACCATTCTCAGCGCCATGTAA... | TATTGAATATGTGAACTCTTTATATATTAATGGTATCCCTTTTCTTTTACTGTCACATATGTTACAATTTCATCTTTTCTGTCATTTGACTTTTTATTCTGTTCATGGTGTTCTTTCACAAAAGTTTTGTGTGGTCATATATGTCAGCCCTTATGTTTTTTAGTTTTGGTGTCTTATTGTTATTATTGTTGATATACAATAGGATAGTTAATGCACGTTACCTCAGTATACATTATTTTGCTACTTGGAATCTATTTCTAGAAAAATGTAGAAAGTTGATTAAATATGCCACAAGGATAACCATTCTCAGCGCCATGTAA... | pathogenic | 137,834 |
Considering the genetic mutation at chromosome 8, position 99661423, impacting VPS13B (vacuolar protein sorting 13 homolog B): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa'] | CACATATGTTACAATTTCATCTTTTCTGTCATTTGACTTTTTATTCTGTTCATGGTGTTCTTTCACAAAAGTTTTGTGTGGTCATATATGTCAGCCCTTATGTTTTTTAGTTTTGGTGTCTTATTGTTATTATTGTTGATATACAATAGGATAGTTAATGCACGTTACCTCAGTATACATTATTTTGCTACTTGGAATCTATTTCTAGAAAAATGTAGAAAGTTGATTAAATATGCCACAAGGATAACCATTCTCAGCGCCATGTAAGTTTGAATATGCAGTTACTCTAACTTGTTTTACTTATCCTAAGTCTTACTTGT... | CACATATGTTACAATTTCATCTTTTCTGTCATTTGACTTTTTATTCTGTTCATGGTGTTCTTTCACAAAAGTTTTGTGTGGTCATATATGTCAGCCCTTATGTTTTTTAGTTTTGGTGTCTTATTGTTATTATTGTTGATATACAATAGGATAGTTAATGCACGTTACCTCAGTATACATTATTTTGCTACTTGGAATCTATTTCTAGAAAAATGTAGAAAGTTGATTAAATATGCCACAAGGATAACCATTCTCAGCGCCATGTAAGTTTGAATATGCAGTTACTCTAACTTGTTTTACTTATCCTAAGTCTTACTTGT... | pathogenic | 137,838 |
Clinical classification of chromosome 8, position 99661451, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cohen_syndrome'] | TCATTTGACTTTTTATTCTGTTCATGGTGTTCTTTCACAAAAGTTTTGTGTGGTCATATATGTCAGCCCTTATGTTTTTTAGTTTTGGTGTCTTATTGTTATTATTGTTGATATACAATAGGATAGTTAATGCACGTTACCTCAGTATACATTATTTTGCTACTTGGAATCTATTTCTAGAAAAATGTAGAAAGTTGATTAAATATGCCACAAGGATAACCATTCTCAGCGCCATGTAAGTTTGAATATGCAGTTACTCTAACTTGTTTTACTTATCCTAAGTCTTACTTGTCAGTTTTTTATACATCATATTAACATTT... | TCATTTGACTTTTTATTCTGTTCATGGTGTTCTTTCACAAAAGTTTTGTGTGGTCATATATGTCAGCCCTTATGTTTTTTAGTTTTGGTGTCTTATTGTTATTATTGTTGATATACAATAGGATAGTTAATGCACGTTACCTCAGTATACATTATTTTGCTACTTGGAATCTATTTCTAGAAAAATGTAGAAAGTTGATTAAATATGCCACAAGGATAACCATTCTCAGCGCCATGTAAGTTTGAATATGCAGTTACTCTAACTTGTTTTACTTATCCTAAGTCTTACTTGTCAGTTTTTTATACATCATATTAACATTT... | pathogenic | 137,839 |
Gene VPS13B (vacuolar protein sorting 13 homolog B) variant at chromosome position 99699596 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cohen_syndrome'] | AGGACTACAGCGAGAACATGCAAGAGATCAAGAAGGAACTCTCAAAGACTGGTAGGTGAAGAAAAATATGTGAAAGCATCTAAAGCCACCAAGAGACTGACAGAGGGTGCAGCAGATGATCGGGCAGATCGAGGGCTTGATCTCACACCTGGAGATGGACCAGGGCCTGCAAGCTGGGCCTGGCCTAGGGCGCGCCCGTAGGGGAGAACATCATCAGTGTCACTGAGCTCATCAGCACCATGAAGCAAGTCAGGCACATTCCAGAAAGCAAGCTCACCAGCCTGGCCTCAGCACTGGATGAAGACAAGAATGGCAAGGTC... | AGGACTACAGCGAGAACATGCAAGAGATCAAGAAGGAACTCTCAAAGACTGGTAGGTGAAGAAAAATATGTGAAAGCATCTAAAGCCACCAAGAGACTGACAGAGGGTGCAGCAGATGATCGGGCAGATCGAGGGCTTGATCTCACACCTGGAGATGGACCAGGGCCTGCAAGCTGGGCCTGGCCTAGGGCGCGCCCGTAGGGGAGAACATCATCAGTGTCACTGAGCTCATCAGCACCATGAAGCAAGTCAGGCACATTCCAGAAAGCAAGCTCACCAGCCTGGCCTCAGCACTGGATGAAGACAAGAATGGCAAGGTC... | pathogenic | 137,841 |
Mutation at chromosome 8, position 99699612, within VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cohen_syndrome'] | CATGCAAGAGATCAAGAAGGAACTCTCAAAGACTGGTAGGTGAAGAAAAATATGTGAAAGCATCTAAAGCCACCAAGAGACTGACAGAGGGTGCAGCAGATGATCGGGCAGATCGAGGGCTTGATCTCACACCTGGAGATGGACCAGGGCCTGCAAGCTGGGCCTGGCCTAGGGCGCGCCCGTAGGGGAGAACATCATCAGTGTCACTGAGCTCATCAGCACCATGAAGCAAGTCAGGCACATTCCAGAAAGCAAGCTCACCAGCCTGGCCTCAGCACTGGATGAAGACAAGAATGGCAAGGTCAACATCAATGACCTCA... | CATGCAAGAGATCAAGAAGGAACTCTCAAAGACTGGTAGGTGAAGAAAAATATGTGAAAGCATCTAAAGCCACCAAGAGACTGACAGAGGGTGCAGCAGATGATCGGGCAGATCGAGGGCTTGATCTCACACCTGGAGATGGACCAGGGCCTGCAAGCTGGGCCTGGCCTAGGGCGCGCCCGTAGGGGAGAACATCATCAGTGTCACTGAGCTCATCAGCACCATGAAGCAAGTCAGGCACATTCCAGAAAGCAAGCTCACCAGCCTGGCCTCAGCACTGGATGAAGACAAGAATGGCAAGGTCAACATCAATGACCTCA... | pathogenic | 137,843 |
Classify the chromosome 8 variant at position 99699772 affecting gene VPS13B (vacuolar protein sorting 13 homolog B) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Abnormality_of_the_eye', 'Cohen_syndrome'] | GGCCTGGCCTAGGGCGCGCCCGTAGGGGAGAACATCATCAGTGTCACTGAGCTCATCAGCACCATGAAGCAAGTCAGGCACATTCCAGAAAGCAAGCTCACCAGCCTGGCCTCAGCACTGGATGAAGACAAGAATGGCAAGGTCAACATCAATGACCTCATCAATGTGATTGAGTTGGTGGACAAAGATGTTCATGCCTCCACCAGCCAGGTGGCCAAGATTGTAGCGACCTTGGAGAAAGAAGAGAAGATGGAGGAGAAGACTGAGAAGGAGGCCGCAGAGGTGAAGAGCTAGAGCTGCTGGCCTAGCCACCTGTCCTC... | GGCCTGGCCTAGGGCGCGCCCGTAGGGGAGAACATCATCAGTGTCACTGAGCTCATCAGCACCATGAAGCAAGTCAGGCACATTCCAGAAAGCAAGCTCACCAGCCTGGCCTCAGCACTGGATGAAGACAAGAATGGCAAGGTCAACATCAATGACCTCATCAATGTGATTGAGTTGGTGGACAAAGATGTTCATGCCTCCACCAGCCAGGTGGCCAAGATTGTAGCGACCTTGGAGAAAGAAGAGAAGATGGAGGAGAAGACTGAGAAGGAGGCCGCAGAGGTGAAGAGCTAGAGCTGCTGGCCTAGCCACCTGTCCTC... | pathogenic | 137,845 |
Is the chromosome 8, position 99717158 variant in VPS13B (vacuolar protein sorting 13 homolog B) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TGAGGGGACTTGGAATAGATGATTTCTAGATCTCTTCCATCCAGCCTTTTTATGTTACAGTGGTAAAAAACGAAACCAAAGATGTAAGCAGTTTTATTTCCTGTCTACCAATTAAGAAACATGTTGAGGCAGCTGAAAAATAGGATCAGATTCTAAACTGTCGATTCAGTTCAATGGAACATGTCCTGAATAGCTACTGTTGTGCCCAGGACTACACTGAATAAGCTGGTCCTTGCCTCCAGCATGGTCAGTACTAGAGGTTGAAAATTGTGTGATCTTCTCTTTCACTCACTCATATTATTCAGGTATCTCTTCTTTGA... | TGAGGGGACTTGGAATAGATGATTTCTAGATCTCTTCCATCCAGCCTTTTTATGTTACAGTGGTAAAAAACGAAACCAAAGATGTAAGCAGTTTTATTTCCTGTCTACCAATTAAGAAACATGTTGAGGCAGCTGAAAAATAGGATCAGATTCTAAACTGTCGATTCAGTTCAATGGAACATGTCCTGAATAGCTACTGTTGTGCCCAGGACTACACTGAATAAGCTGGTCCTTGCCTCCAGCATGGTCAGTACTAGAGGTTGAAAATTGTGTGATCTTCTCTTTCACTCACTCATATTATTCAGGTATCTCTTCTTTGA... | benign | 137,850 |
Mutation found at chromosome 8 position 99717220, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cohen_syndrome'] | GTAAAAAACGAAACCAAAGATGTAAGCAGTTTTATTTCCTGTCTACCAATTAAGAAACATGTTGAGGCAGCTGAAAAATAGGATCAGATTCTAAACTGTCGATTCAGTTCAATGGAACATGTCCTGAATAGCTACTGTTGTGCCCAGGACTACACTGAATAAGCTGGTCCTTGCCTCCAGCATGGTCAGTACTAGAGGTTGAAAATTGTGTGATCTTCTCTTTCACTCACTCATATTATTCAGGTATCTCTTCTTTGATGTTTTAAAATAATGGAATTGGAGAGAATGAAATAGAAATTGATAAGTTTTAGAAATTTGTC... | GTAAAAAACGAAACCAAAGATGTAAGCAGTTTTATTTCCTGTCTACCAATTAAGAAACATGTTGAGGCAGCTGAAAAATAGGATCAGATTCTAAACTGTCGATTCAGTTCAATGGAACATGTCCTGAATAGCTACTGTTGTGCCCAGGACTACACTGAATAAGCTGGTCCTTGCCTCCAGCATGGTCAGTACTAGAGGTTGAAAATTGTGTGATCTTCTCTTTCACTCACTCATATTATTCAGGTATCTCTTCTTTGATGTTTTAAAATAATGGAATTGGAGAGAATGAAATAGAAATTGATAAGTTTTAGAAATTTGTC... | pathogenic | 137,852 |
Considering the variant on chromosome 8, location 99720488, involving gene VPS13B (vacuolar protein sorting 13 homolog B), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Abnormality_of_the_nervous_system', 'Cohen_syndrome'] | AAGCTCTTAATGCATTTGTCTTAACAGCCAAATATAGAATGTGTGAAGGCATCCAACTTATTTCTTGATTATTTTGTATTTGGATAGATTTTAATTTAATCTTCATGTAACTTGATGCCACTCTAAACTTGACATGAATCCAAAAAGCTTGAAAGATTCACAATGATAGAAAATTAAAACAACTAATTGGTCAATAATGGAGACATTAAATGTGAATTTTTTTCTTTTTTTCTTTTTTTTTTTTTGAGACAGAATCTCATTTTGTTGCACATCCTGAAGTGCAGTGGTGTGATAACAGCTCACTGCAGCTTCAGCCTCCT... | AAGCTCTTAATGCATTTGTCTTAACAGCCAAATATAGAATGTGTGAAGGCATCCAACTTATTTCTTGATTATTTTGTATTTGGATAGATTTTAATTTAATCTTCATGTAACTTGATGCCACTCTAAACTTGACATGAATCCAAAAAGCTTGAAAGATTCACAATGATAGAAAATTAAAACAACTAATTGGTCAATAATGGAGACATTAAATGTGAATTTTTTTCTTTTTTTCTTTTTTTTTTTTTGAGACAGAATCTCATTTTGTTGCACATCCTGAAGTGCAGTGGTGTGATAACAGCTCACTGCAGCTTCAGCCTCCT... | pathogenic | 137,857 |
Is the genetic change at chromosome 8, position 99766938, within gene VPS13B (vacuolar protein sorting 13 homolog B) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cohen_syndrome', 'VPS13B-related_disorder'] | CACACACTTGTGCTTTGGAATCTCTGTAAAACAAATTCTTAGAAGCATACTTCCTAGGGGAAAAAAAAAGTTTTGGCTAGGCGCGGTGGCTCATGCTTGTAATCCCAGCAGTTTGGGAGGCTGAAGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGTGCATGCCTGTAATCCCAGCTACTCGGGAAGCTGAGGTGGGAGAATTGCTTGAACCCAGGGGCCAAGGTTGCAGTGAGCTGAGATCGTACCACTTC... | CACACACTTGTGCTTTGGAATCTCTGTAAAACAAATTCTTAGAAGCATACTTCCTAGGGGAAAAAAAAAGTTTTGGCTAGGCGCGGTGGCTCATGCTTGTAATCCCAGCAGTTTGGGAGGCTGAAGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGTGCATGCCTGTAATCCCAGCTACTCGGGAAGCTGAGGTGGGAGAATTGCTTGAACCCAGGGGCCAAGGTTGCAGTGAGCTGAGATCGTACCACTTC... | pathogenic | 137,875 |
Clinical significance of chromosome 8, position 99776838, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cohen_syndrome'] | TGTTAACTCTACAAATTCCTAGAAAGTTACTTGGATTACTGTGCCCATTATAGATGTTTTAAGAATATACTTAGCTGCATTTTTGTGCATAGTCAATAACCTAGTGCTCCAGAGTCTGTTTTCTTTGTCTGCAATGGAGATTTACTAGCATTGCAGTAAATGCTTACACCACATAACTGAAAACCCTTTGAGGTTAAACAACTCAGTAAACATGCTGGAATGCTCCTAGCTTTCATTTTCACCAGCCTGTTTCACAACCTCTTTCAAAACCCAATGGAAGATTCACACCTCTGAAAATCCCACATGATTCACCCATGCCA... | TGTTAACTCTACAAATTCCTAGAAAGTTACTTGGATTACTGTGCCCATTATAGATGTTTTAAGAATATACTTAGCTGCATTTTTGTGCATAGTCAATAACCTAGTGCTCCAGAGTCTGTTTTCTTTGTCTGCAATGGAGATTTACTAGCATTGCAGTAAATGCTTACACCACATAACTGAAAACCCTTTGAGGTTAAACAACTCAGTAAACATGCTGGAATGCTCCTAGCTTTCATTTTCACCAGCCTGTTTCACAACCTCTTTCAAAACCCAATGGAAGATTCACACCTCTGAAAATCCCACATGATTCACCCATGCCA... | pathogenic | 137,879 |
Assess the variant on chromosome 8, position 99776891, impacting VPS13B (vacuolar protein sorting 13 homolog B): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cohen_syndrome'] | ATGTTTTAAGAATATACTTAGCTGCATTTTTGTGCATAGTCAATAACCTAGTGCTCCAGAGTCTGTTTTCTTTGTCTGCAATGGAGATTTACTAGCATTGCAGTAAATGCTTACACCACATAACTGAAAACCCTTTGAGGTTAAACAACTCAGTAAACATGCTGGAATGCTCCTAGCTTTCATTTTCACCAGCCTGTTTCACAACCTCTTTCAAAACCCAATGGAAGATTCACACCTCTGAAAATCCCACATGATTCACCCATGCCATTAAGTTCCTCTTGTGTTTCCACCCTGGCAGCACTTCCCACTTTCCTATTCCT... | ATGTTTTAAGAATATACTTAGCTGCATTTTTGTGCATAGTCAATAACCTAGTGCTCCAGAGTCTGTTTTCTTTGTCTGCAATGGAGATTTACTAGCATTGCAGTAAATGCTTACACCACATAACTGAAAACCCTTTGAGGTTAAACAACTCAGTAAACATGCTGGAATGCTCCTAGCTTTCATTTTCACCAGCCTGTTTCACAACCTCTTTCAAAACCCAATGGAAGATTCACACCTCTGAAAATCCCACATGATTCACCCATGCCATTAAGTTCCTCTTGTGTTTCCACCCTGGCAGCACTTCCCACTTTCCTATTCCT... | pathogenic | 137,881 |
A genetic alteration at chromosome 8, position 99778797, in gene VPS13B (vacuolar protein sorting 13 homolog B)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cohen_syndrome'] | CTTCTTTTATCACTTCTTTCCCATAGCTCTGCAAGTGAGTCTGGTTCTCAAAGCACTTGTGATCCACTTGTGACTCCAACAGCCCTGGCTGCCTGTACCAGAGTTGACTCCTGCTTTACCCCATGGTTTGTCCCATCCCTTTGCGTTTCTTTCCAGTTTGCTCACCTGGAATTCCATCTTTGTCATCACCTTGACCAACTAGGCACAGGTACTCTTTTTTTTAGCATCAGAATAACATCCATTTAATACTTACCATTTTCTCTTGAGTGTTTTCAAAAGAGAAGTCAACAATCTTAGATAATGTATTTTCAGGAAGTATA... | CTTCTTTTATCACTTCTTTCCCATAGCTCTGCAAGTGAGTCTGGTTCTCAAAGCACTTGTGATCCACTTGTGACTCCAACAGCCCTGGCTGCCTGTACCAGAGTTGACTCCTGCTTTACCCCATGGTTTGTCCCATCCCTTTGCGTTTCTTTCCAGTTTGCTCACCTGGAATTCCATCTTTGTCATCACCTTGACCAACTAGGCACAGGTACTCTTTTTTTTAGCATCAGAATAACATCCATTTAATACTTACCATTTTCTCTTGAGTGTTTTCAAAAGAGAAGTCAACAATCTTAGATAATGTATTTTCAGGAAGTATA... | pathogenic | 137,885 |
Chromosome 8, position 99784495, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TCTTATGTAAGCGTAAAATAGGAGAACCTACCTTGACCTTGGGAGGATCTCAGAAGGCTGCTCTTAAAACCAACCTTAAAACAGGAATCTGGAAGTTGAGTAGAAACAAGTTGGTCAAGCAAGAAATGGAGAAAAAGATGTCCAAGCAGAGGGAAGGCTCTGAGGCAGGAAGTAGTTTGATGTGTTGGATGAGTTGGAAGGAGGTCAGCGTAGTGCTGGAGGAGCTGGAAAAGGCTAGTGGAGCTGGAGTGTCCTGAGCAAATGCCCTCAGCAAATGGAGAGTAGCTCAAGATGCAGTTGGAGGCATGGGCAGGGGCTGG... | TCTTATGTAAGCGTAAAATAGGAGAACCTACCTTGACCTTGGGAGGATCTCAGAAGGCTGCTCTTAAAACCAACCTTAAAACAGGAATCTGGAAGTTGAGTAGAAACAAGTTGGTCAAGCAAGAAATGGAGAAAAAGATGTCCAAGCAGAGGGAAGGCTCTGAGGCAGGAAGTAGTTTGATGTGTTGGATGAGTTGGAAGGAGGTCAGCGTAGTGCTGGAGGAGCTGGAAAAGGCTAGTGGAGCTGGAGTGTCCTGAGCAAATGCCCTCAGCAAATGGAGAGTAGCTCAAGATGCAGTTGGAGGCATGGGCAGGGGCTGG... | benign | 137,893 |
Located at chromosome 8 position 99809474, the variant affecting gene VPS13B (vacuolar protein sorting 13 homolog B)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cohen_syndrome'] | TTTTTTTTTGTCATTTCTAGCTACTAGTCTGTCCAAAGAAAACAACTTTCTTATTTCTTTTAGTTTTGTGTGTACCCTGAGCTTGATTCCCAGTTGCTGCTATAAAAAACTGAAAGGGTTCCCAACACTGCTATTTTTCTTTTTTTCTCTGTTACTAACATTTAAACATCAAAGATATTCTGGTACTTTTATGTTGTAGAGTATATATAAGACCATATTTTCCCTAAAGGTATTTACTATCCAGGGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTACGCACACGTGTGTTTTCTTAGCTGTTAGCCTTTTTTAGAA... | TTTTTTTTTGTCATTTCTAGCTACTAGTCTGTCCAAAGAAAACAACTTTCTTATTTCTTTTAGTTTTGTGTGTACCCTGAGCTTGATTCCCAGTTGCTGCTATAAAAAACTGAAAGGGTTCCCAACACTGCTATTTTTCTTTTTTTCTCTGTTACTAACATTTAAACATCAAAGATATTCTGGTACTTTTATGTTGTAGAGTATATATAAGACCATATTTTCCCTAAAGGTATTTACTATCCAGGGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTACGCACACGTGTGTTTTCTTAGCTGTTAGCCTTTTTTAGAA... | pathogenic | 137,896 |
A mutation at chromosome position 99817727 on chromosome 8 in gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cohen_syndrome'] | AAAAATATTACAAATAGGAAATTCAGTATGTGAAAGTCCTATTTTCTCCAATCATGGTGAATATTCATATTACAGAAGGATTTGCTTTGTGAAAGAATTCACCACCGTATTAAATTTTGCATTATATTTTCAATTTCAACCAATTTAAGAAAACATTTGTTGTTTTTTGTAGAAATAGGGTCTTGCTCTGTCACCCAGGGTGGAGTACAGTGGTGCAATTACAGTTCACTGCAGCCTTGAACTCCTGGGCTCGAGTGATACTCCTGCCTCAGCCTCCCAAGTAGCTGTGACTACAGGCATACACCACCATACCTAGCTAA... | AAAAATATTACAAATAGGAAATTCAGTATGTGAAAGTCCTATTTTCTCCAATCATGGTGAATATTCATATTACAGAAGGATTTGCTTTGTGAAAGAATTCACCACCGTATTAAATTTTGCATTATATTTTCAATTTCAACCAATTTAAGAAAACATTTGTTGTTTTTTGTAGAAATAGGGTCTTGCTCTGTCACCCAGGGTGGAGTACAGTGGTGCAATTACAGTTCACTGCAGCCTTGAACTCCTGGGCTCGAGTGATACTCCTGCCTCAGCCTCCCAAGTAGCTGTGACTACAGGCATACACCACCATACCTAGCTAA... | pathogenic | 137,901 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 99818761, gene VPS13B (vacuolar protein sorting 13 homolog B): what disease(s) if pathogenic? | pathogenic; ['Cohen_syndrome'] | GAGGATTGCTTGAGCCTGGTAGATTGAGACTGCAGTGAGCTGTGATCATGCCACTACACTCCAGCCTGGGCGAAAGAGCAAGACCCTGTCTAAAAAAAACTAAATAAATAAACTGAATAAAATAAAAAAAATTAGATATCTGCATCAAAGATTTTGTATTATCTGTTTATACAGAGATTTCTTACTAGATAAGAGTGAAATAAACCCTTGAAAATCAACTTCAAGGAATAGATTGATCACAATTGCCCTCTCAGTTACCAGAGCTAAATGATTTTCAATTCCCAGTCTTTTCCATTTCTACTTCACTTGACAAGATTCAC... | GAGGATTGCTTGAGCCTGGTAGATTGAGACTGCAGTGAGCTGTGATCATGCCACTACACTCCAGCCTGGGCGAAAGAGCAAGACCCTGTCTAAAAAAAACTAAATAAATAAACTGAATAAAATAAAAAAAATTAGATATCTGCATCAAAGATTTTGTATTATCTGTTTATACAGAGATTTCTTACTAGATAAGAGTGAAATAAACCCTTGAAAATCAACTTCAAGGAATAGATTGATCACAATTGCCCTCTCAGTTACCAGAGCTAAATGATTTTCAATTCCCAGTCTTTTCCATTTCTACTTCACTTGACAAGATTCAC... | pathogenic | 137,911 |
A genetic variant at chromosome 8, position 99818823, affecting gene VPS13B (vacuolar protein sorting 13 homolog B)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cohen_syndrome'] | AGCCTGGGCGAAAGAGCAAGACCCTGTCTAAAAAAAACTAAATAAATAAACTGAATAAAATAAAAAAAATTAGATATCTGCATCAAAGATTTTGTATTATCTGTTTATACAGAGATTTCTTACTAGATAAGAGTGAAATAAACCCTTGAAAATCAACTTCAAGGAATAGATTGATCACAATTGCCCTCTCAGTTACCAGAGCTAAATGATTTTCAATTCCCAGTCTTTTCCATTTCTACTTCACTTGACAAGATTCACTGCCACCTCCTGGGCAGGCACTTCTCTTATGGCTTCAGCAAAACTACTGTCCCCTGATTCAC... | AGCCTGGGCGAAAGAGCAAGACCCTGTCTAAAAAAAACTAAATAAATAAACTGAATAAAATAAAAAAAATTAGATATCTGCATCAAAGATTTTGTATTATCTGTTTATACAGAGATTTCTTACTAGATAAGAGTGAAATAAACCCTTGAAAATCAACTTCAAGGAATAGATTGATCACAATTGCCCTCTCAGTTACCAGAGCTAAATGATTTTCAATTCCCAGTCTTTTCCATTTCTACTTCACTTGACAAGATTCACTGCCACCTCCTGGGCAGGCACTTCTCTTATGGCTTCAGCAAAACTACTGTCCCCTGATTCAC... | pathogenic | 137,912 |
Is the genetic change at chromosome 8, position 99821306, within gene VPS13B (vacuolar protein sorting 13 homolog B) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cohen_syndrome'] | GGGCCCAGATCATCCACACACTGTCCCATAAATGGACTCTATCTACCAAAAAGGTGTTGGTCTATAATACATTTGTAGTTAGATATTTTTCAATAAATTATATACCACTTTAGAAATCTGATAATTATTCTTGGTTTTTATTTCAATTTCCTAGAGAAGAATATGATCCTTCAGATTGTGCAGTTCCCATCTCAACATCCCTCATTAAGCAAATAGCCACTAAGGTACACCCTGGAGGCACAGTTAATCAGATCCTTGACGAATTCTATGGGCCAGAAAAGTCGCTTCAACCCATATGGCCCTATAATAAGAAGGATTCT... | GGGCCCAGATCATCCACACACTGTCCCATAAATGGACTCTATCTACCAAAAAGGTGTTGGTCTATAATACATTTGTAGTTAGATATTTTTCAATAAATTATATACCACTTTAGAAATCTGATAATTATTCTTGGTTTTTATTTCAATTTCCTAGAGAAGAATATGATCCTTCAGATTGTGCAGTTCCCATCTCAACATCCCTCATTAAGCAAATAGCCACTAAGGTACACCCTGGAGGCACAGTTAATCAGATCCTTGACGAATTCTATGGGCCAGAAAAGTCGCTTCAACCCATATGGCCCTATAATAAGAAGGATTCT... | pathogenic | 137,924 |
Determine whether the variant at chromosome 8, position 99821479, in gene VPS13B (vacuolar protein sorting 13 homolog B) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cohen_syndrome'] | GATTGTGCAGTTCCCATCTCAACATCCCTCATTAAGCAAATAGCCACTAAGGTACACCCTGGAGGCACAGTTAATCAGATCCTTGACGAATTCTATGGGCCAGAAAAGTCGCTTCAACCCATATGGCCCTATAATAAGAAGGATTCTGACAGGTAATATTCTTCAGTGATCTTTTTCTACAAAAATTTCTCAACATTAACAAATGATCATTCACAAAAATATTAAATACCATAAGTGGTGTGTGCATGTATCTGTCAGATTCTTACCTTTTATCATCTAGTAGGTGTATTTTGTAGATTTCTTTATTCATGATCTAGATC... | GATTGTGCAGTTCCCATCTCAACATCCCTCATTAAGCAAATAGCCACTAAGGTACACCCTGGAGGCACAGTTAATCAGATCCTTGACGAATTCTATGGGCCAGAAAAGTCGCTTCAACCCATATGGCCCTATAATAAGAAGGATTCTGACAGGTAATATTCTTCAGTGATCTTTTTCTACAAAAATTTCTCAACATTAACAAATGATCATTCACAAAAATATTAAATACCATAAGTGGTGTGTGCATGTATCTGTCAGATTCTTACCTTTTATCATCTAGTAGGTGTATTTTGTAGATTTCTTTATTCATGATCTAGATC... | pathogenic | 137,927 |
Chromosome 8, position 99823827, gene VPS13B (vacuolar protein sorting 13 homolog B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cohen_syndrome'] | ACAAATTGTACTTGGCCTCCTTCTTTAGAGCAGAAAGTAGAGTCACTAACGTTCTGAGCATAGAGTGAAAGGACAAAGGCTCCTCCTGCAGCAAAGTTTATATTTCTGGAAAGGACATCCTGAGAAAAATTATGTGGATCAATTCTAATTCTCTCCTAGAACCACTGTTATATGAGGAAGTTATATTCTTGAACAGTGGACTGGTGTCTATGTTTTTGGAGATGCATACAAAAAACATAAGTCATTTAAATATAAATGGTATGTGCTTTTCAGCATAAATCTAAAGTCTATGAAAACAATTAGCTGAATAATATAACTAA... | ACAAATTGTACTTGGCCTCCTTCTTTAGAGCAGAAAGTAGAGTCACTAACGTTCTGAGCATAGAGTGAAAGGACAAAGGCTCCTCCTGCAGCAAAGTTTATATTTCTGGAAAGGACATCCTGAGAAAAATTATGTGGATCAATTCTAATTCTCTCCTAGAACCACTGTTATATGAGGAAGTTATATTCTTGAACAGTGGACTGGTGTCTATGTTTTTGGAGATGCATACAAAAAACATAAGTCATTTAAATATAAATGGTATGTGCTTTTCAGCATAAATCTAAAGTCTATGAAAACAATTAGCTGAATAATATAACTAA... | pathogenic | 137,928 |
Considering the variant on chromosome 8, location 99823831, involving gene VPS13B (vacuolar protein sorting 13 homolog B), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cohen_syndrome', 'Inborn_genetic_diseases', 'VPS13B-related_disorder'] | ATTGTACTTGGCCTCCTTCTTTAGAGCAGAAAGTAGAGTCACTAACGTTCTGAGCATAGAGTGAAAGGACAAAGGCTCCTCCTGCAGCAAAGTTTATATTTCTGGAAAGGACATCCTGAGAAAAATTATGTGGATCAATTCTAATTCTCTCCTAGAACCACTGTTATATGAGGAAGTTATATTCTTGAACAGTGGACTGGTGTCTATGTTTTTGGAGATGCATACAAAAAACATAAGTCATTTAAATATAAATGGTATGTGCTTTTCAGCATAAATCTAAAGTCTATGAAAACAATTAGCTGAATAATATAACTAATCAC... | ATTGTACTTGGCCTCCTTCTTTAGAGCAGAAAGTAGAGTCACTAACGTTCTGAGCATAGAGTGAAAGGACAAAGGCTCCTCCTGCAGCAAAGTTTATATTTCTGGAAAGGACATCCTGAGAAAAATTATGTGGATCAATTCTAATTCTCTCCTAGAACCACTGTTATATGAGGAAGTTATATTCTTGAACAGTGGACTGGTGTCTATGTTTTTGGAGATGCATACAAAAAACATAAGTCATTTAAATATAAATGGTATGTGCTTTTCAGCATAAATCTAAAGTCTATGAAAACAATTAGCTGAATAATATAACTAATCAC... | pathogenic | 137,930 |
Determine if the mutation at chromosome 8, position 99823945 in gene VPS13B (vacuolar protein sorting 13 homolog B) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cohen_syndrome'] | CCTGAGAAAAATTATGTGGATCAATTCTAATTCTCTCCTAGAACCACTGTTATATGAGGAAGTTATATTCTTGAACAGTGGACTGGTGTCTATGTTTTTGGAGATGCATACAAAAAACATAAGTCATTTAAATATAAATGGTATGTGCTTTTCAGCATAAATCTAAAGTCTATGAAAACAATTAGCTGAATAATATAACTAATCACATTATGTATGAAAGTACAATATCATAGTGTACCATGCAGAAGTTTTTTGCTGTACTTCTAATATCATCATTATTTTAGCTGTCCAAAATTAGAAAAAGAAGGGATACTTCATCA... | CCTGAGAAAAATTATGTGGATCAATTCTAATTCTCTCCTAGAACCACTGTTATATGAGGAAGTTATATTCTTGAACAGTGGACTGGTGTCTATGTTTTTGGAGATGCATACAAAAAACATAAGTCATTTAAATATAAATGGTATGTGCTTTTCAGCATAAATCTAAAGTCTATGAAAACAATTAGCTGAATAATATAACTAATCACATTATGTATGAAAGTACAATATCATAGTGTACCATGCAGAAGTTTTTTGCTGTACTTCTAATATCATCATTATTTTAGCTGTCCAAAATTAGAAAAAGAAGGGATACTTCATCA... | pathogenic | 137,932 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 99832595, gene VPS13B (vacuolar protein sorting 13 homolog B). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cohen_syndrome'] | GGGATCCACTGAGTAAGACCACTTGGCTCCATGGCTTAAGCCCCCTTTCCAGGGGAGTGAACGATTCTGTCTCGCTGGCATTCCAGGTGCCACTGGGGTATGAAAAAAAACTCCTGCAGCTAGCTCGGTATCTGCCCAAATGGCCGCCTGGTTTTGTGCTTGAAACCCAGGGCTCTTGTGGTGTAGGCACCAGAGGCAATCTCCTGGTCTGTGGGTTGCAAAGACCCTGGGAAAAGCGTAGTATCTGGGCTAGATAGCACCATCCCTCACAGCACAGTCCCTCATGGCTTCCTTTGGCTAGGGGAGAGAGTTCCCTGATC... | GGGATCCACTGAGTAAGACCACTTGGCTCCATGGCTTAAGCCCCCTTTCCAGGGGAGTGAACGATTCTGTCTCGCTGGCATTCCAGGTGCCACTGGGGTATGAAAAAAAACTCCTGCAGCTAGCTCGGTATCTGCCCAAATGGCCGCCTGGTTTTGTGCTTGAAACCCAGGGCTCTTGTGGTGTAGGCACCAGAGGCAATCTCCTGGTCTGTGGGTTGCAAAGACCCTGGGAAAAGCGTAGTATCTGGGCTAGATAGCACCATCCCTCACAGCACAGTCCCTCATGGCTTCCTTTGGCTAGGGGAGAGAGTTCCCTGATC... | pathogenic | 137,946 |
Evaluate the clinical significance of the mutation at chromosome 8, position 99835295 in gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cohen_syndrome', 'Inborn_genetic_diseases'] | ACATATAATGGTTTGTTCATACTGGACTTCTATTATGTGGTTGTCTTGCATGTAAAATGTCCCTTCTGCAGCTGTCAAGAATAACTTAGTATATATAACAGCTACAAAAGAAAACATATTGTGCCCTTATGATAAGTACCTTATTTTCATGATTATGAATTTGTAGACTTTATTTGAGATTTAGCAATGCTAACTCTTTTGATGTAATATTTTAAAAGACAAGAGAGATTTTTTTAATAGTAATATTTTAAATAAGTTATTCATAATGGTAAGGTTCTGTTCTCCACACATCCCTCCTTCGTTCACAGTATTCACAAAAT... | ACATATAATGGTTTGTTCATACTGGACTTCTATTATGTGGTTGTCTTGCATGTAAAATGTCCCTTCTGCAGCTGTCAAGAATAACTTAGTATATATAACAGCTACAAAAGAAAACATATTGTGCCCTTATGATAAGTACCTTATTTTCATGATTATGAATTTGTAGACTTTATTTGAGATTTAGCAATGCTAACTCTTTTGATGTAATATTTTAAAAGACAAGAGAGATTTTTTTAATAGTAATATTTTAAATAAGTTATTCATAATGGTAAGGTTCTGTTCTCCACACATCCCTCCTTCGTTCACAGTATTCACAAAAT... | pathogenic | 137,950 |
Variant in gene VPS13B (vacuolar protein sorting 13 homolog B), located at chromosome 8 position 99835564: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cohen_syndrome', 'Inborn_genetic_diseases'] | TAAGGTTCTGTTCTCCACACATCCCTCCTTCGTTCACAGTATTCACAAAATCCTTGATTTTACAAACATTTGTCATCTTTTACACTGTAGAGGAGTGGTTATCCTTACATTCTGGTTGGAGATGTTAAGCATAGTGAGTTTAAGGGTGTTTTTTGAAAGCTATATGAACTTATAATAAATAAAACATTTTTTAAAAAACAAAATTTGAAACAAAACAATTTGGAAATTAAGCTTAAAATTCTGATAATTACAGTATAATTTAATCTTATCTATAAATACTAAGCTAGATATTGGACAGAAAGTACCATACTTGAGTCCTG... | TAAGGTTCTGTTCTCCACACATCCCTCCTTCGTTCACAGTATTCACAAAATCCTTGATTTTACAAACATTTGTCATCTTTTACACTGTAGAGGAGTGGTTATCCTTACATTCTGGTTGGAGATGTTAAGCATAGTGAGTTTAAGGGTGTTTTTTGAAAGCTATATGAACTTATAATAAATAAAACATTTTTTAAAAAACAAAATTTGAAACAAAACAATTTGGAAATTAAGCTTAAAATTCTGATAATTACAGTATAATTTAATCTTATCTATAAATACTAAGCTAGATATTGGACAGAAAGTACCATACTTGAGTCCTG... | pathogenic | 137,951 |
Regarding the variant found on chromosome 8 at position 99835564 in gene VPS13B (vacuolar protein sorting 13 homolog B): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cohen_syndrome'] | TAAGGTTCTGTTCTCCACACATCCCTCCTTCGTTCACAGTATTCACAAAATCCTTGATTTTACAAACATTTGTCATCTTTTACACTGTAGAGGAGTGGTTATCCTTACATTCTGGTTGGAGATGTTAAGCATAGTGAGTTTAAGGGTGTTTTTTGAAAGCTATATGAACTTATAATAAATAAAACATTTTTTAAAAAACAAAATTTGAAACAAAACAATTTGGAAATTAAGCTTAAAATTCTGATAATTACAGTATAATTTAATCTTATCTATAAATACTAAGCTAGATATTGGACAGAAAGTACCATACTTGAGTCCTG... | TAAGGTTCTGTTCTCCACACATCCCTCCTTCGTTCACAGTATTCACAAAATCCTTGATTTTACAAACATTTGTCATCTTTTACACTGTAGAGGAGTGGTTATCCTTACATTCTGGTTGGAGATGTTAAGCATAGTGAGTTTAAGGGTGTTTTTTGAAAGCTATATGAACTTATAATAAATAAAACATTTTTTAAAAAACAAAATTTGAAACAAAACAATTTGGAAATTAAGCTTAAAATTCTGATAATTACAGTATAATTTAATCTTATCTATAAATACTAAGCTAGATATTGGACAGAAAGTACCATACTTGAGTCCTG... | pathogenic | 137,952 |
Determine if the mutation at chromosome 8, position 99835724 in gene VPS13B (vacuolar protein sorting 13 homolog B) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cohen_syndrome'] | TATATGAACTTATAATAAATAAAACATTTTTTAAAAAACAAAATTTGAAACAAAACAATTTGGAAATTAAGCTTAAAATTCTGATAATTACAGTATAATTTAATCTTATCTATAAATACTAAGCTAGATATTGGACAGAAAGTACCATACTTGAGTCCTGGCCCTAGCCTTCTTGGCTATCAAAAAGAAGTTATCTGAGTTTGGCTCGCCTAGCTGTTTTAAAATTAGGCTGGGAAAGGAACTTTGCTGTTTATCGAAGAACTATACTCTTAAAATGAATTTATTTTGTGCTGTCCCATCTCCTCATCTATTTCCTTCCC... | TATATGAACTTATAATAAATAAAACATTTTTTAAAAAACAAAATTTGAAACAAAACAATTTGGAAATTAAGCTTAAAATTCTGATAATTACAGTATAATTTAATCTTATCTATAAATACTAAGCTAGATATTGGACAGAAAGTACCATACTTGAGTCCTGGCCCTAGCCTTCTTGGCTATCAAAAAGAAGTTATCTGAGTTTGGCTCGCCTAGCTGTTTTAAAATTAGGCTGGGAAAGGAACTTTGCTGTTTATCGAAGAACTATACTCTTAAAATGAATTTATTTTGTGCTGTCCCATCTCCTCATCTATTTCCTTCCC... | pathogenic | 137,957 |
Gene VPS13B (vacuolar protein sorting 13 homolog B) variant at chromosome 8, position 99835736—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cohen_syndrome'] | TAATAAATAAAACATTTTTTAAAAAACAAAATTTGAAACAAAACAATTTGGAAATTAAGCTTAAAATTCTGATAATTACAGTATAATTTAATCTTATCTATAAATACTAAGCTAGATATTGGACAGAAAGTACCATACTTGAGTCCTGGCCCTAGCCTTCTTGGCTATCAAAAAGAAGTTATCTGAGTTTGGCTCGCCTAGCTGTTTTAAAATTAGGCTGGGAAAGGAACTTTGCTGTTTATCGAAGAACTATACTCTTAAAATGAATTTATTTTGTGCTGTCCCATCTCCTCATCTATTTCCTTCCCTCAATCCAACCA... | TAATAAATAAAACATTTTTTAAAAAACAAAATTTGAAACAAAACAATTTGGAAATTAAGCTTAAAATTCTGATAATTACAGTATAATTTAATCTTATCTATAAATACTAAGCTAGATATTGGACAGAAAGTACCATACTTGAGTCCTGGCCCTAGCCTTCTTGGCTATCAAAAAGAAGTTATCTGAGTTTGGCTCGCCTAGCTGTTTTAAAATTAGGCTGGGAAAGGAACTTTGCTGTTTATCGAAGAACTATACTCTTAAAATGAATTTATTTTGTGCTGTCCCATCTCCTCATCTATTTCCTTCCCTCAATCCAACCA... | pathogenic | 137,958 |
Classify the chromosome 8 variant at position 99853469 affecting gene VPS13B (vacuolar protein sorting 13 homolog B) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cohen_syndrome'] | ATGGTGCAGTAGAAGGTCAGCATTCTACAGGGATGAAAACAGAGCTCAGTAAGAGGGGCTGGAAGTGCCAGGGCCAAGGGACTGGGAAAGTGTAGTTTTAAACAAATTGGTGTAGGTAAGCTGCACTGAGAAGTTGATGTTTGGGCGGAGACTGGAAAGCAGTAGGGGGTTAGTAATGTGACTATCTGAAGGAAGAACTTCCCAGGCAGAGGGCACAGCCAGTTCAAAGGCCTGCAACAACATGCCTGGCATCAAGGAGGAGCAGGGAAGAGGCTGTTGTGGGCCCAGTGGAGGGGGTGGAAGTGGAAGTAGCAGTGCAT... | ATGGTGCAGTAGAAGGTCAGCATTCTACAGGGATGAAAACAGAGCTCAGTAAGAGGGGCTGGAAGTGCCAGGGCCAAGGGACTGGGAAAGTGTAGTTTTAAACAAATTGGTGTAGGTAAGCTGCACTGAGAAGTTGATGTTTGGGCGGAGACTGGAAAGCAGTAGGGGGTTAGTAATGTGACTATCTGAAGGAAGAACTTCCCAGGCAGAGGGCACAGCCAGTTCAAAGGCCTGCAACAACATGCCTGGCATCAAGGAGGAGCAGGGAAGAGGCTGTTGTGGGCCCAGTGGAGGGGGTGGAAGTGGAAGTAGCAGTGCAT... | pathogenic | 137,967 |
Determine whether the variant at chromosome 8, position 99853553, in gene VPS13B (vacuolar protein sorting 13 homolog B) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cohen_syndrome', 'VPS13B-related_disorder'] | GGAAAGTGTAGTTTTAAACAAATTGGTGTAGGTAAGCTGCACTGAGAAGTTGATGTTTGGGCGGAGACTGGAAAGCAGTAGGGGGTTAGTAATGTGACTATCTGAAGGAAGAACTTCCCAGGCAGAGGGCACAGCCAGTTCAAAGGCCTGCAACAACATGCCTGGCATCAAGGAGGAGCAGGGAAGAGGCTGTTGTGGGCCCAGTGGAGGGGGTGGAAGTGGAAGTAGCAGTGCATGAGGTCCAGGAGGTAAGAGCTAGAAGGAGGGAGACCTCATGGGCCATTGAAGGGCTTAGCTTTAATTCTAAGTGAAATGAGGAA... | GGAAAGTGTAGTTTTAAACAAATTGGTGTAGGTAAGCTGCACTGAGAAGTTGATGTTTGGGCGGAGACTGGAAAGCAGTAGGGGGTTAGTAATGTGACTATCTGAAGGAAGAACTTCCCAGGCAGAGGGCACAGCCAGTTCAAAGGCCTGCAACAACATGCCTGGCATCAAGGAGGAGCAGGGAAGAGGCTGTTGTGGGCCCAGTGGAGGGGGTGGAAGTGGAAGTAGCAGTGCATGAGGTCCAGGAGGTAAGAGCTAGAAGGAGGGAGACCTCATGGGCCATTGAAGGGCTTAGCTTTAATTCTAAGTGAAATGAGGAA... | pathogenic | 137,971 |
Regarding the variant found on chromosome 8 at position 99853767 in gene VPS13B (vacuolar protein sorting 13 homolog B): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cohen_syndrome'] | GGAAGTGGAAGTAGCAGTGCATGAGGTCCAGGAGGTAAGAGCTAGAAGGAGGGAGACCTCATGGGCCATTGAAGGGCTTAGCTTTAATTCTAAGTGAAATGAGGAACTCATTGGATCATTTTTGAACATAGAAGTGACACCCTGTGACTTAAATTTCTAGAAGATCATTGGCCGCTTTGTTGAAGTAGACTGTAGAGAAACAAGGGCACAAGCAAGCAGGGAGACTAGTTAGGAGAGGATTACAGTTGCTCACATTAGAGACACTGATGGCTTAGACTACAGTGGTGTCAGTGGAAGTGGCAGAAAGAGTCAGATTCTGG... | GGAAGTGGAAGTAGCAGTGCATGAGGTCCAGGAGGTAAGAGCTAGAAGGAGGGAGACCTCATGGGCCATTGAAGGGCTTAGCTTTAATTCTAAGTGAAATGAGGAACTCATTGGATCATTTTTGAACATAGAAGTGACACCCTGTGACTTAAATTTCTAGAAGATCATTGGCCGCTTTGTTGAAGTAGACTGTAGAGAAACAAGGGCACAAGCAAGCAGGGAGACTAGTTAGGAGAGGATTACAGTTGCTCACATTAGAGACACTGATGGCTTAGACTACAGTGGTGTCAGTGGAAGTGGCAGAAAGAGTCAGATTCTGG... | pathogenic | 137,977 |
Determine if the mutation at chromosome 8, position 99853809 in gene VPS13B (vacuolar protein sorting 13 homolog B) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cohen_syndrome', 'Inborn_genetic_diseases'] | TAGAAGGAGGGAGACCTCATGGGCCATTGAAGGGCTTAGCTTTAATTCTAAGTGAAATGAGGAACTCATTGGATCATTTTTGAACATAGAAGTGACACCCTGTGACTTAAATTTCTAGAAGATCATTGGCCGCTTTGTTGAAGTAGACTGTAGAGAAACAAGGGCACAAGCAAGCAGGGAGACTAGTTAGGAGAGGATTACAGTTGCTCACATTAGAGACACTGATGGCTTAGACTACAGTGGTGTCAGTGGAAGTGGCAGAAAGAGTCAGATTCTGGATATGCTTCTAAGGAAAAGTCAATGGGATTTTCCTAATACAT... | TAGAAGGAGGGAGACCTCATGGGCCATTGAAGGGCTTAGCTTTAATTCTAAGTGAAATGAGGAACTCATTGGATCATTTTTGAACATAGAAGTGACACCCTGTGACTTAAATTTCTAGAAGATCATTGGCCGCTTTGTTGAAGTAGACTGTAGAGAAACAAGGGCACAAGCAAGCAGGGAGACTAGTTAGGAGAGGATTACAGTTGCTCACATTAGAGACACTGATGGCTTAGACTACAGTGGTGTCAGTGGAAGTGGCAGAAAGAGTCAGATTCTGGATATGCTTCTAAGGAAAAGTCAATGGGATTTTCCTAATACAT... | pathogenic | 137,979 |
Evaluate this variant at chromosome 8, position 99853827, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cohen_syndrome'] | ATGGGCCATTGAAGGGCTTAGCTTTAATTCTAAGTGAAATGAGGAACTCATTGGATCATTTTTGAACATAGAAGTGACACCCTGTGACTTAAATTTCTAGAAGATCATTGGCCGCTTTGTTGAAGTAGACTGTAGAGAAACAAGGGCACAAGCAAGCAGGGAGACTAGTTAGGAGAGGATTACAGTTGCTCACATTAGAGACACTGATGGCTTAGACTACAGTGGTGTCAGTGGAAGTGGCAGAAAGAGTCAGATTCTGGATATGCTTCTAAGGAAAAGTCAATGGGATTTTCCTAATACATTGAGTAATGGCTAAAAAT... | ATGGGCCATTGAAGGGCTTAGCTTTAATTCTAAGTGAAATGAGGAACTCATTGGATCATTTTTGAACATAGAAGTGACACCCTGTGACTTAAATTTCTAGAAGATCATTGGCCGCTTTGTTGAAGTAGACTGTAGAGAAACAAGGGCACAAGCAAGCAGGGAGACTAGTTAGGAGAGGATTACAGTTGCTCACATTAGAGACACTGATGGCTTAGACTACAGTGGTGTCAGTGGAAGTGGCAGAAAGAGTCAGATTCTGGATATGCTTCTAAGGAAAAGTCAATGGGATTTTCCTAATACATTGAGTAATGGCTAAAAAT... | pathogenic | 137,980 |
Does the variant on chromosome 8 at location 99853942 affecting gene VPS13B (vacuolar protein sorting 13 homolog B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cohen_syndrome'] | TTTGTTGAAGTAGACTGTAGAGAAACAAGGGCACAAGCAAGCAGGGAGACTAGTTAGGAGAGGATTACAGTTGCTCACATTAGAGACACTGATGGCTTAGACTACAGTGGTGTCAGTGGAAGTGGCAGAAAGAGTCAGATTCTGGATATGCTTCTAAGGAAAAGTCAATGGGATTTTCCTAATACATTGAGTAATGGCTAAAAATAGAGGCATCAAGGATGACACCGAAATTTTTGGTCTGAGCAACTGGTAGGATATGGCTGCCATTAACTAAGATGAGAGAGACTATCTGCAGATTTAGGAGGAAAGATCAAGAGATT... | TTTGTTGAAGTAGACTGTAGAGAAACAAGGGCACAAGCAAGCAGGGAGACTAGTTAGGAGAGGATTACAGTTGCTCACATTAGAGACACTGATGGCTTAGACTACAGTGGTGTCAGTGGAAGTGGCAGAAAGAGTCAGATTCTGGATATGCTTCTAAGGAAAAGTCAATGGGATTTTCCTAATACATTGAGTAATGGCTAAAAATAGAGGCATCAAGGATGACACCGAAATTTTTGGTCTGAGCAACTGGTAGGATATGGCTGCCATTAACTAAGATGAGAGAGACTATCTGCAGATTTAGGAGGAAAGATCAAGAGATT... | pathogenic | 137,984 |
Chromosome 8, position 99861778, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cohen_syndrome'] | ACAAGGATTGGCTCAAATGTTATTTCATGTGATAAACACAGAAATATTAAAGGTGTTCAGGATTTCTGCTAAACATCAGAAACCCTACACTGTGTTGCCTCATCATATTTTTTTAAATGTAGATACAGTTGTCATAACTTTCTTAAGGATATGGATACATTCTGACATGGAAGCGGATTTGGGGGTGAAACAGCCAACTTTTCTCTAGCACGCCACGTAAACAGTGCCATCTTGTGGCCCAGACAGGTCATCGGGCATGGAGGCCAAAGTGCTTCCCGCAAGGACAGTGTTTTAGTTTTATCTGTGTGTGTGTGCTTGAT... | ACAAGGATTGGCTCAAATGTTATTTCATGTGATAAACACAGAAATATTAAAGGTGTTCAGGATTTCTGCTAAACATCAGAAACCCTACACTGTGTTGCCTCATCATATTTTTTTAAATGTAGATACAGTTGTCATAACTTTCTTAAGGATATGGATACATTCTGACATGGAAGCGGATTTGGGGGTGAAACAGCCAACTTTTCTCTAGCACGCCACGTAAACAGTGCCATCTTGTGGCCCAGACAGGTCATCGGGCATGGAGGCCAAAGTGCTTCCCGCAAGGACAGTGTTTTAGTTTTATCTGTGTGTGTGTGCTTGAT... | pathogenic | 138,006 |
Considering the genetic mutation at chromosome 8, position 99861900, impacting VPS13B (vacuolar protein sorting 13 homolog B): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cohen_syndrome'] | ATACAGTTGTCATAACTTTCTTAAGGATATGGATACATTCTGACATGGAAGCGGATTTGGGGGTGAAACAGCCAACTTTTCTCTAGCACGCCACGTAAACAGTGCCATCTTGTGGCCCAGACAGGTCATCGGGCATGGAGGCCAAAGTGCTTCCCGCAAGGACAGTGTTTTAGTTTTATCTGTGTGTGTGTGCTTGATGTTATTTTGGTCAGGTTGGCAGAGACTTGGGAACTAACAAGGGCCATCTGAGTCCCCTTTTCTTCTCAGCAGGAGGCAAGGAAAACAGGGCAAAGGGCTTCTTCCCGTAAAAGGCATCTGAC... | ATACAGTTGTCATAACTTTCTTAAGGATATGGATACATTCTGACATGGAAGCGGATTTGGGGGTGAAACAGCCAACTTTTCTCTAGCACGCCACGTAAACAGTGCCATCTTGTGGCCCAGACAGGTCATCGGGCATGGAGGCCAAAGTGCTTCCCGCAAGGACAGTGTTTTAGTTTTATCTGTGTGTGTGTGCTTGATGTTATTTTGGTCAGGTTGGCAGAGACTTGGGAACTAACAAGGGCCATCTGAGTCCCCTTTTCTTCTCAGCAGGAGGCAAGGAAAACAGGGCAAAGGGCTTCTTCCCGTAAAAGGCATCTGAC... | pathogenic | 138,009 |
Is the chromosome 8, position 99868308 variant in VPS13B (vacuolar protein sorting 13 homolog B) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cohen_syndrome'] | CCATTCCAGGCTCTCAGAGAGGCTGCCTCTCTCAAAGCAGGGCTGCAGGGACCATGAAGTGGCTGCTGGTCTCTTAGCCTCTCTGTTCTCCAGCTTGTGAGCACAGAGGTAGATAAGGCACCTGGTGGCTGGTGAGGTGTTGGTGTGTGTGACAGGCCAGCTTTCCCCCTCAAAGGTCTGCTGCTGAGCCCAGGGCAGGTGGTTCCACAGCTCCCTCTCTGACTCTCAGAATCTAACACCTTGTCATGGGACTCAGGCTTTCCACTTTTGGGGGGCTGCCCAAATAGTCTTATCTGTCAAAGCCACAGTAACCGAAGCCT... | CCATTCCAGGCTCTCAGAGAGGCTGCCTCTCTCAAAGCAGGGCTGCAGGGACCATGAAGTGGCTGCTGGTCTCTTAGCCTCTCTGTTCTCCAGCTTGTGAGCACAGAGGTAGATAAGGCACCTGGTGGCTGGTGAGGTGTTGGTGTGTGTGACAGGCCAGCTTTCCCCCTCAAAGGTCTGCTGCTGAGCCCAGGGCAGGTGGTTCCACAGCTCCCTCTCTGACTCTCAGAATCTAACACCTTGTCATGGGACTCAGGCTTTCCACTTTTGGGGGGCTGCCCAAATAGTCTTATCTGTCAAAGCCACAGTAACCGAAGCCT... | pathogenic | 138,013 |
Assess the variant on chromosome 8, position 99868332, impacting VPS13B (vacuolar protein sorting 13 homolog B): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cohen_syndrome'] | GCCTCTCTCAAAGCAGGGCTGCAGGGACCATGAAGTGGCTGCTGGTCTCTTAGCCTCTCTGTTCTCCAGCTTGTGAGCACAGAGGTAGATAAGGCACCTGGTGGCTGGTGAGGTGTTGGTGTGTGTGACAGGCCAGCTTTCCCCCTCAAAGGTCTGCTGCTGAGCCCAGGGCAGGTGGTTCCACAGCTCCCTCTCTGACTCTCAGAATCTAACACCTTGTCATGGGACTCAGGCTTTCCACTTTTGGGGGGCTGCCCAAATAGTCTTATCTGTCAAAGCCACAGTAACCGAAGCCTTCACTGTGGCCAGAGAAAACGGAA... | GCCTCTCTCAAAGCAGGGCTGCAGGGACCATGAAGTGGCTGCTGGTCTCTTAGCCTCTCTGTTCTCCAGCTTGTGAGCACAGAGGTAGATAAGGCACCTGGTGGCTGGTGAGGTGTTGGTGTGTGTGACAGGCCAGCTTTCCCCCTCAAAGGTCTGCTGCTGAGCCCAGGGCAGGTGGTTCCACAGCTCCCTCTCTGACTCTCAGAATCTAACACCTTGTCATGGGACTCAGGCTTTCCACTTTTGGGGGGCTGCCCAAATAGTCTTATCTGTCAAAGCCACAGTAACCGAAGCCTTCACTGTGGCCAGAGAAAACGGAA... | pathogenic | 138,015 |
Gene mutation in VPS13B (vacuolar protein sorting 13 homolog B) at chromosome 8, position 99868406—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cohen_syndrome'] | GAGCACAGAGGTAGATAAGGCACCTGGTGGCTGGTGAGGTGTTGGTGTGTGTGACAGGCCAGCTTTCCCCCTCAAAGGTCTGCTGCTGAGCCCAGGGCAGGTGGTTCCACAGCTCCCTCTCTGACTCTCAGAATCTAACACCTTGTCATGGGACTCAGGCTTTCCACTTTTGGGGGGCTGCCCAAATAGTCTTATCTGTCAAAGCCACAGTAACCGAAGCCTTCACTGTGGCCAGAGAAAACGGAAGAGCAGAACAGAGGGGGCCTCACCTGATACCTGCATGTGCTGGAGCAGGTGGCTGTCAGCACCCTGTGCGGGTG... | GAGCACAGAGGTAGATAAGGCACCTGGTGGCTGGTGAGGTGTTGGTGTGTGTGACAGGCCAGCTTTCCCCCTCAAAGGTCTGCTGCTGAGCCCAGGGCAGGTGGTTCCACAGCTCCCTCTCTGACTCTCAGAATCTAACACCTTGTCATGGGACTCAGGCTTTCCACTTTTGGGGGGCTGCCCAAATAGTCTTATCTGTCAAAGCCACAGTAACCGAAGCCTTCACTGTGGCCAGAGAAAACGGAAGAGCAGAACAGAGGGGGCCTCACCTGATACCTGCATGTGCTGGAGCAGGTGGCTGTCAGCACCCTGTGCGGGTG... | pathogenic | 138,017 |
Variant on chromosome 8, at position 99870818, affecting VPS13B (vacuolar protein sorting 13 homolog B): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cohen_syndrome'] | TTAAGACTTTTTCCTATGATAAATGTGGAAGGAGAGAGAGGCTGTGGGAAGATAACTCTAAGAAGCAGTAGAGAATGAGACAGAGTGTGGATGTGCACATGGGTCTTTGGGTGTGGGTGGCCTTCTCACCCACAGAGGACATCCTGCCCCTCGCAGCCAGGCTGGGCAGAAACAAAGGGTCTGCAACCAGAAGCCCTTTCACAAGGCAGACAGCTGGGAAGTGCGTGGCGCATGGCAGTACCTGCACTTGGATGGGGCGTGCCGGGGCCTCTCCCCGTGCAGCCGCATGCACACACGAGTAATGGGTGCCTGTGAAAGGA... | TTAAGACTTTTTCCTATGATAAATGTGGAAGGAGAGAGAGGCTGTGGGAAGATAACTCTAAGAAGCAGTAGAGAATGAGACAGAGTGTGGATGTGCACATGGGTCTTTGGGTGTGGGTGGCCTTCTCACCCACAGAGGACATCCTGCCCCTCGCAGCCAGGCTGGGCAGAAACAAAGGGTCTGCAACCAGAAGCCCTTTCACAAGGCAGACAGCTGGGAAGTGCGTGGCGCATGGCAGTACCTGCACTTGGATGGGGCGTGCCGGGGCCTCTCCCCGTGCAGCCGCATGCACACACGAGTAATGGGTGCCTGTGAAAGGA... | pathogenic | 138,021 |
Mutation found at chromosome 8 position 99871452, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cohen_syndrome'] | GGAAGGGAGTGGAGATGAATGAGTGCCCACACTTCAGGCAGCCATCCGGAGAGCATCCTTAAGAGACCACACAGACGCCAGCATGTGTTCCTCTTCGCTTTCCCCTCCTCGCCCGCCTCATTTCCCTCTCCTTCTGTGAATGACATGTTCACTCACAGGGAAACTGTCAATAAGATGTGCTATAACCTATAAGTGAGAAAAGTTACACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGC... | GGAAGGGAGTGGAGATGAATGAGTGCCCACACTTCAGGCAGCCATCCGGAGAGCATCCTTAAGAGACCACACAGACGCCAGCATGTGTTCCTCTTCGCTTTCCCCTCCTCGCCCGCCTCATTTCCCTCTCCTTCTGTGAATGACATGTTCACTCACAGGGAAACTGTCAATAAGATGTGCTATAACCTATAAGTGAGAAAAGTTACACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGC... | pathogenic | 138,025 |
Located at chromosome 8 position 99871460, the variant affecting gene VPS13B (vacuolar protein sorting 13 homolog B)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cohen_syndrome', 'VPS13B-related_disorder'] | GTGGAGATGAATGAGTGCCCACACTTCAGGCAGCCATCCGGAGAGCATCCTTAAGAGACCACACAGACGCCAGCATGTGTTCCTCTTCGCTTTCCCCTCCTCGCCCGCCTCATTTCCCTCTCCTTCTGTGAATGACATGTTCACTCACAGGGAAACTGTCAATAAGATGTGCTATAACCTATAAGTGAGAAAAGTTACACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGCTCCCTTAT... | GTGGAGATGAATGAGTGCCCACACTTCAGGCAGCCATCCGGAGAGCATCCTTAAGAGACCACACAGACGCCAGCATGTGTTCCTCTTCGCTTTCCCCTCCTCGCCCGCCTCATTTCCCTCTCCTTCTGTGAATGACATGTTCACTCACAGGGAAACTGTCAATAAGATGTGCTATAACCTATAAGTGAGAAAAGTTACACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGCTCCCTTAT... | pathogenic | 138,026 |
Is the variant located on chromosome 8 at position 99871471, gene VPS13B (vacuolar protein sorting 13 homolog B), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cohen_syndrome'] | TGAGTGCCCACACTTCAGGCAGCCATCCGGAGAGCATCCTTAAGAGACCACACAGACGCCAGCATGTGTTCCTCTTCGCTTTCCCCTCCTCGCCCGCCTCATTTCCCTCTCCTTCTGTGAATGACATGTTCACTCACAGGGAAACTGTCAATAAGATGTGCTATAACCTATAAGTGAGAAAAGTTACACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGCTCCCTTATGTAAGAGGATC... | TGAGTGCCCACACTTCAGGCAGCCATCCGGAGAGCATCCTTAAGAGACCACACAGACGCCAGCATGTGTTCCTCTTCGCTTTCCCCTCCTCGCCCGCCTCATTTCCCTCTCCTTCTGTGAATGACATGTTCACTCACAGGGAAACTGTCAATAAGATGTGCTATAACCTATAAGTGAGAAAAGTTACACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGCTCCCTTATGTAAGAGGATC... | pathogenic | 138,027 |
Determine whether the variant at chromosome 8, position 99871568, in gene VPS13B (vacuolar protein sorting 13 homolog B) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cohen_syndrome', 'VPS13B-related_disorder'] | CTCATTTCCCTCTCCTTCTGTGAATGACATGTTCACTCACAGGGAAACTGTCAATAAGATGTGCTATAACCTATAAGTGAGAAAAGTTACACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGCTCCCTTATGTAAGAGGATCTTAGAGCAGAGCTTCACATGGCCGTTTTGGTTTCCATCACTCTTGTAAAACTTTTATTACCGAACTGAAGGTTTTAAAACCACTAACTCTTAGTCTA... | CTCATTTCCCTCTCCTTCTGTGAATGACATGTTCACTCACAGGGAAACTGTCAATAAGATGTGCTATAACCTATAAGTGAGAAAAGTTACACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGCTCCCTTATGTAAGAGGATCTTAGAGCAGAGCTTCACATGGCCGTTTTGGTTTCCATCACTCTTGTAAAACTTTTATTACCGAACTGAAGGTTTTAAAACCACTAACTCTTAGTCTA... | pathogenic | 138,032 |
Does the variant on chromosome 8 at location 99871603 affecting gene VPS13B (vacuolar protein sorting 13 homolog B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cohen_syndrome', 'Inborn_genetic_diseases'] | CTCACAGGGAAACTGTCAATAAGATGTGCTATAACCTATAAGTGAGAAAAGTTACACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGCTCCCTTATGTAAGAGGATCTTAGAGCAGAGCTTCACATGGCCGTTTTGGTTTCCATCACTCTTGTAAAACTTTTATTACCGAACTGAAGGTTTTAAAACCACTAACTCTTAGTCTAATGACTATGCGTCGTTTGTAAACATTTACAAGCCC... | CTCACAGGGAAACTGTCAATAAGATGTGCTATAACCTATAAGTGAGAAAAGTTACACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGCTCCCTTATGTAAGAGGATCTTAGAGCAGAGCTTCACATGGCCGTTTTGGTTTCCATCACTCTTGTAAAACTTTTATTACCGAACTGAAGGTTTTAAAACCACTAACTCTTAGTCTAATGACTATGCGTCGTTTGTAAACATTTACAAGCCC... | pathogenic | 138,034 |
Is the genetic mutation found on chromosome 8 at position 99871651, within the gene VPS13B (vacuolar protein sorting 13 homolog B), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cohen_syndrome'] | AAGTTACACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGCTCCCTTATGTAAGAGGATCTTAGAGCAGAGCTTCACATGGCCGTTTTGGTTTCCATCACTCTTGTAAAACTTTTATTACCGAACTGAAGGTTTTAAAACCACTAACTCTTAGTCTAATGACTATGCGTCGTTTGTAAACATTTACAAGCCCTCAGAAAGCACACATGCTGTACCATCTTTGGTGCTGGAGAGTCTATGT... | AAGTTACACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGCTCCCTTATGTAAGAGGATCTTAGAGCAGAGCTTCACATGGCCGTTTTGGTTTCCATCACTCTTGTAAAACTTTTATTACCGAACTGAAGGTTTTAAAACCACTAACTCTTAGTCTAATGACTATGCGTCGTTTGTAAACATTTACAAGCCCTCAGAAAGCACACATGCTGTACCATCTTTGGTGCTGGAGAGTCTATGT... | pathogenic | 138,036 |
Is the genetic variant on chromosome 8, position 99871657, gene VPS13B (vacuolar protein sorting 13 homolog B), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cohen_syndrome', 'Inborn_genetic_diseases', 'VPS13B-related_disorder'] | CACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGCTCCCTTATGTAAGAGGATCTTAGAGCAGAGCTTCACATGGCCGTTTTGGTTTCCATCACTCTTGTAAAACTTTTATTACCGAACTGAAGGTTTTAAAACCACTAACTCTTAGTCTAATGACTATGCGTCGTTTGTAAACATTTACAAGCCCTCAGAAAGCACACATGCTGTACCATCTTTGGTGCTGGAGAGTCTATGTAAAGGC... | CACTCTCCCTTATGATAGGGACTCCAGTGAGGTAAAGTGAAGTCATACTTCATAAATTCTTTTGGTTTTGAAAATGCCATTGTCCCTCACCGTGTTTCCCAGGGCTGAAGAATGCTCCCTTATGTAAGAGGATCTTAGAGCAGAGCTTCACATGGCCGTTTTGGTTTCCATCACTCTTGTAAAACTTTTATTACCGAACTGAAGGTTTTAAAACCACTAACTCTTAGTCTAATGACTATGCGTCGTTTGTAAACATTTACAAGCCCTCAGAAAGCACACATGCTGTACCATCTTTGGTGCTGGAGAGTCTATGTAAAGGC... | pathogenic | 138,037 |
Chromosome 8, position 99875479, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cohen_syndrome'] | ATTTTCCACTGCTGTCCAGGGCTGAAAGAGGGTTGGGATTAAGGAATGCCTAAAACAGAAGTGGGAAGACATGACTGAGAGCAGGAGCACTGTGCCTGCACAGCCAAGGCCCGGCACTGGCTGGAAGGTAGATGGGCCAGTGTGCCTTCAGCCTCCACATTCTGCTTTCTCTATTCCACTTTCTCTCTCCTGAAGTCATTAATAGGAATAACTGCTGCCTTAATCCTATGTCTATAACCCCAACCTCTCCTACTCACCCCCAAGAAAACTCAAGCTGCAGAGCGTCTTTGAGACTAAACCCTCCCAAGTGCTGTAATCTA... | ATTTTCCACTGCTGTCCAGGGCTGAAAGAGGGTTGGGATTAAGGAATGCCTAAAACAGAAGTGGGAAGACATGACTGAGAGCAGGAGCACTGTGCCTGCACAGCCAAGGCCCGGCACTGGCTGGAAGGTAGATGGGCCAGTGTGCCTTCAGCCTCCACATTCTGCTTTCTCTATTCCACTTTCTCTCTCCTGAAGTCATTAATAGGAATAACTGCTGCCTTAATCCTATGTCTATAACCCCAACCTCTCCTACTCACCCCCAAGAAAACTCAAGCTGCAGAGCGTCTTTGAGACTAAACCCTCCCAAGTGCTGTAATCTA... | pathogenic | 138,043 |
Variant in VPS13B (vacuolar protein sorting 13 homolog B), chromosome 8, position 99875499—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cohen_syndrome'] | GCTGAAAGAGGGTTGGGATTAAGGAATGCCTAAAACAGAAGTGGGAAGACATGACTGAGAGCAGGAGCACTGTGCCTGCACAGCCAAGGCCCGGCACTGGCTGGAAGGTAGATGGGCCAGTGTGCCTTCAGCCTCCACATTCTGCTTTCTCTATTCCACTTTCTCTCTCCTGAAGTCATTAATAGGAATAACTGCTGCCTTAATCCTATGTCTATAACCCCAACCTCTCCTACTCACCCCCAAGAAAACTCAAGCTGCAGAGCGTCTTTGAGACTAAACCCTCCCAAGTGCTGTAATCTAGAGTATTTTCAACATGAGTG... | GCTGAAAGAGGGTTGGGATTAAGGAATGCCTAAAACAGAAGTGGGAAGACATGACTGAGAGCAGGAGCACTGTGCCTGCACAGCCAAGGCCCGGCACTGGCTGGAAGGTAGATGGGCCAGTGTGCCTTCAGCCTCCACATTCTGCTTTCTCTATTCCACTTTCTCTCTCCTGAAGTCATTAATAGGAATAACTGCTGCCTTAATCCTATGTCTATAACCCCAACCTCTCCTACTCACCCCCAAGAAAACTCAAGCTGCAGAGCGTCTTTGAGACTAAACCCTCCCAAGTGCTGTAATCTAGAGTATTTTCAACATGAGTG... | pathogenic | 138,044 |
Does the genetic variant at chromosome 8, position 99875501, impacting gene VPS13B (vacuolar protein sorting 13 homolog B), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cohen_syndrome'] | TGAAAGAGGGTTGGGATTAAGGAATGCCTAAAACAGAAGTGGGAAGACATGACTGAGAGCAGGAGCACTGTGCCTGCACAGCCAAGGCCCGGCACTGGCTGGAAGGTAGATGGGCCAGTGTGCCTTCAGCCTCCACATTCTGCTTTCTCTATTCCACTTTCTCTCTCCTGAAGTCATTAATAGGAATAACTGCTGCCTTAATCCTATGTCTATAACCCCAACCTCTCCTACTCACCCCCAAGAAAACTCAAGCTGCAGAGCGTCTTTGAGACTAAACCCTCCCAAGTGCTGTAATCTAGAGTATTTTCAACATGAGTGGG... | TGAAAGAGGGTTGGGATTAAGGAATGCCTAAAACAGAAGTGGGAAGACATGACTGAGAGCAGGAGCACTGTGCCTGCACAGCCAAGGCCCGGCACTGGCTGGAAGGTAGATGGGCCAGTGTGCCTTCAGCCTCCACATTCTGCTTTCTCTATTCCACTTTCTCTCTCCTGAAGTCATTAATAGGAATAACTGCTGCCTTAATCCTATGTCTATAACCCCAACCTCTCCTACTCACCCCCAAGAAAACTCAAGCTGCAGAGCGTCTTTGAGACTAAACCCTCCCAAGTGCTGTAATCTAGAGTATTTTCAACATGAGTGGG... | pathogenic | 138,045 |
Variant on chromosome 8, at position 99875503, affecting VPS13B (vacuolar protein sorting 13 homolog B): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cohen_syndrome'] | AAAGAGGGTTGGGATTAAGGAATGCCTAAAACAGAAGTGGGAAGACATGACTGAGAGCAGGAGCACTGTGCCTGCACAGCCAAGGCCCGGCACTGGCTGGAAGGTAGATGGGCCAGTGTGCCTTCAGCCTCCACATTCTGCTTTCTCTATTCCACTTTCTCTCTCCTGAAGTCATTAATAGGAATAACTGCTGCCTTAATCCTATGTCTATAACCCCAACCTCTCCTACTCACCCCCAAGAAAACTCAAGCTGCAGAGCGTCTTTGAGACTAAACCCTCCCAAGTGCTGTAATCTAGAGTATTTTCAACATGAGTGGGCA... | AAAGAGGGTTGGGATTAAGGAATGCCTAAAACAGAAGTGGGAAGACATGACTGAGAGCAGGAGCACTGTGCCTGCACAGCCAAGGCCCGGCACTGGCTGGAAGGTAGATGGGCCAGTGTGCCTTCAGCCTCCACATTCTGCTTTCTCTATTCCACTTTCTCTCTCCTGAAGTCATTAATAGGAATAACTGCTGCCTTAATCCTATGTCTATAACCCCAACCTCTCCTACTCACCCCCAAGAAAACTCAAGCTGCAGAGCGTCTTTGAGACTAAACCCTCCCAAGTGCTGTAATCTAGAGTATTTTCAACATGAGTGGGCA... | pathogenic | 138,046 |
Benign or pathogenic: chromosome 8, position 99875551, gene VPS13B (vacuolar protein sorting 13 homolog B) variant? Disease(s) if pathogenic? | pathogenic; ['Cohen_syndrome'] | GACTGAGAGCAGGAGCACTGTGCCTGCACAGCCAAGGCCCGGCACTGGCTGGAAGGTAGATGGGCCAGTGTGCCTTCAGCCTCCACATTCTGCTTTCTCTATTCCACTTTCTCTCTCCTGAAGTCATTAATAGGAATAACTGCTGCCTTAATCCTATGTCTATAACCCCAACCTCTCCTACTCACCCCCAAGAAAACTCAAGCTGCAGAGCGTCTTTGAGACTAAACCCTCCCAAGTGCTGTAATCTAGAGTATTTTCAACATGAGTGGGCAGGGGAGGGTGGCCAGCAGCACTGCCTTGTCAGTGAGCTTTCTTGAGCT... | GACTGAGAGCAGGAGCACTGTGCCTGCACAGCCAAGGCCCGGCACTGGCTGGAAGGTAGATGGGCCAGTGTGCCTTCAGCCTCCACATTCTGCTTTCTCTATTCCACTTTCTCTCTCCTGAAGTCATTAATAGGAATAACTGCTGCCTTAATCCTATGTCTATAACCCCAACCTCTCCTACTCACCCCCAAGAAAACTCAAGCTGCAGAGCGTCTTTGAGACTAAACCCTCCCAAGTGCTGTAATCTAGAGTATTTTCAACATGAGTGGGCAGGGGAGGGTGGCCAGCAGCACTGCCTTGTCAGTGAGCTTTCTTGAGCT... | pathogenic | 138,048 |
Gene VPS13B (vacuolar protein sorting 13 homolog B) variant at chromosome position 99875697 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTTAATCCTATGTCTATAACCCCAACCTCTCCTACTCACCCCCAAGAAAACTCAAGCTGCAGAGCGTCTTTGAGACTAAACCCTCCCAAGTGCTGTAATCTAGAGTATTTTCAACATGAGTGGGCAGGGGAGGGTGGCCAGCAGCACTGCCTTGTCAGTGAGCTTTCTTGAGCTGTCTGGCTCTTAGTGCATCCCAACATAATCCACAGACATGAGGAAGCCTGTCTGCCGTGAACACTTCCAGTGAAGACTAAAAGTAGTATTTTAAGATCTATAAATGACTTTTCTGGTTTTTAGCTTTTGCCTAGTTCCTTTGAATT... | CTTAATCCTATGTCTATAACCCCAACCTCTCCTACTCACCCCCAAGAAAACTCAAGCTGCAGAGCGTCTTTGAGACTAAACCCTCCCAAGTGCTGTAATCTAGAGTATTTTCAACATGAGTGGGCAGGGGAGGGTGGCCAGCAGCACTGCCTTGTCAGTGAGCTTTCTTGAGCTGTCTGGCTCTTAGTGCATCCCAACATAATCCACAGACATGAGGAAGCCTGTCTGCCGTGAACACTTCCAGTGAAGACTAAAAGTAGTATTTTAAGATCTATAAATGACTTTTCTGGTTTTTAGCTTTTGCCTAGTTCCTTTGAATT... | benign | 138,050 |
Regarding the variant found on chromosome 8 at position 99875913 in gene VPS13B (vacuolar protein sorting 13 homolog B): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GAAGCCTGTCTGCCGTGAACACTTCCAGTGAAGACTAAAAGTAGTATTTTAAGATCTATAAATGACTTTTCTGGTTTTTAGCTTTTGCCTAGTTCCTTTGAATTTTGGAAGGAATTAATTTGTAGATGACATCATGCAGTACATTTAAATATGGCAGGATTGAGATTTATTTTTTAAGTCAGCATTTGCTTTTCTTGGTTAAATGCAACCAGTTTAGGGGTAATAACTGCTTAATATGCCTGGCACATTATTGAAATCCCTTATGAGTGGCTCAAAATGAGTCAGAAGGTCAATTTAGTCCTTGGCTGGGTTCCTTTCAC... | GAAGCCTGTCTGCCGTGAACACTTCCAGTGAAGACTAAAAGTAGTATTTTAAGATCTATAAATGACTTTTCTGGTTTTTAGCTTTTGCCTAGTTCCTTTGAATTTTGGAAGGAATTAATTTGTAGATGACATCATGCAGTACATTTAAATATGGCAGGATTGAGATTTATTTTTTAAGTCAGCATTTGCTTTTCTTGGTTAAATGCAACCAGTTTAGGGGTAATAACTGCTTAATATGCCTGGCACATTATTGAAATCCCTTATGAGTGGCTCAAAATGAGTCAGAAGGTCAATTTAGTCCTTGGCTGGGTTCCTTTCAC... | benign | 138,051 |
Gene SPAG1 (sperm associated antigen 1) variant at chromosome position 100191453 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_28'] | AGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAACGAGAATCCATCTCAAAAAAAACCATAATAAATTTTAAAAAAAATTACTAGACATGGTGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGTACTGAGCTGAGATCACGCCACTGCACTTCAGCCTAGGGGACAAAGAAAGACTCTGTTTCAAAAAAAATAAATAAATACAGAATATGTTAGCATTAGGTAAAGCTGAGTTAAGGGACACAGGAACTCATT... | AGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAACGAGAATCCATCTCAAAAAAAACCATAATAAATTTTAAAAAAAATTACTAGACATGGTGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGTACTGAGCTGAGATCACGCCACTGCACTTCAGCCTAGGGGACAAAGAAAGACTCTGTTTCAAAAAAAATAAATAAATACAGAATATGTTAGCATTAGGTAAAGCTGAGTTAAGGGACACAGGAACTCATT... | pathogenic | 138,074 |
Evaluate the clinical significance of the mutation at chromosome 8, position 100194231 in gene SPAG1 (sperm associated antigen 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AGCTGAGTGCAGTGGCTCACGTCTGTAATCCCAGCTCTTTGGGAGGCTGAGGCAGGCAAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACTGCACTCCAACTGGGGCAACAGAGTGAGACTCCATCTCAAACAAACAAAAATTTAGGAAACCTGCTTCTTTTATGATGGGATATAAGCAAACCTGCCCAATCTCTGCTCCATAGGGAAGCATCACCTTTATTACACTGGAGAGCCAACACACCTGCCCTCTCCGCTGCAGATGAATACTATTTCTGTTTGCCAAGGTTGTTCTCAGTACAAACATCCTTA... | AGCTGAGTGCAGTGGCTCACGTCTGTAATCCCAGCTCTTTGGGAGGCTGAGGCAGGCAAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACTGCACTCCAACTGGGGCAACAGAGTGAGACTCCATCTCAAACAAACAAAAATTTAGGAAACCTGCTTCTTTTATGATGGGATATAAGCAAACCTGCCCAATCTCTGCTCCATAGGGAAGCATCACCTTTATTACACTGGAGAGCCAACACACCTGCCCTCTCCGCTGCAGATGAATACTATTTCTGTTTGCCAAGGTTGTTCTCAGTACAAACATCCTTA... | benign | 138,080 |
Is chromosome 8, position 100213102, gene SPAG1 (sperm associated antigen 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Primary_ciliary_dyskinesia_28'] | CTGACCTTGTGATCTGCCTGCCTCAGCTTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCCAAACTTTTATATATTAGTAACTCCCAAGTCACTGTCTCTGGATAAGGCCACTTCTCTGATCTACATGTAGAGCCACCCTCTGAACAGCTCCATTGCATTGTCCCACGGGTATCCCAACACCCAACAGAACTCACAAGTCTTTCATGTTTGGGCCTCTGTTTACCTGTCCAGAGACTATCAAAGTTGTTCAGAGCCATTTCAATCTTAAGGTAAGAATGCTTTGCATTCAGTTCAAATCTGGGTTAT... | CTGACCTTGTGATCTGCCTGCCTCAGCTTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCCAAACTTTTATATATTAGTAACTCCCAAGTCACTGTCTCTGGATAAGGCCACTTCTCTGATCTACATGTAGAGCCACCCTCTGAACAGCTCCATTGCATTGTCCCACGGGTATCCCAACACCCAACAGAACTCACAAGTCTTTCATGTTTGGGCCTCTGTTTACCTGTCCAGAGACTATCAAAGTTGTTCAGAGCCATTTCAATCTTAAGGTAAGAATGCTTTGCATTCAGTTCAAATCTGGGTTAT... | pathogenic | 138,087 |
Is chromosome 8, position 100213110, gene SPAG1 (sperm associated antigen 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_28'] | GTGATCTGCCTGCCTCAGCTTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCCAAACTTTTATATATTAGTAACTCCCAAGTCACTGTCTCTGGATAAGGCCACTTCTCTGATCTACATGTAGAGCCACCCTCTGAACAGCTCCATTGCATTGTCCCACGGGTATCCCAACACCCAACAGAACTCACAAGTCTTTCATGTTTGGGCCTCTGTTTACCTGTCCAGAGACTATCAAAGTTGTTCAGAGCCATTTCAATCTTAAGGTAAGAATGCTTTGCATTCAGTTCAAATCTGGGTTATGGCTGGGC... | GTGATCTGCCTGCCTCAGCTTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCCAAACTTTTATATATTAGTAACTCCCAAGTCACTGTCTCTGGATAAGGCCACTTCTCTGATCTACATGTAGAGCCACCCTCTGAACAGCTCCATTGCATTGTCCCACGGGTATCCCAACACCCAACAGAACTCACAAGTCTTTCATGTTTGGGCCTCTGTTTACCTGTCCAGAGACTATCAAAGTTGTTCAGAGCCATTTCAATCTTAAGGTAAGAATGCTTTGCATTCAGTTCAAATCTGGGTTATGGCTGGGC... | pathogenic | 138,088 |
Gene SPAG1 variant at chromosome position 100213264 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Primary_ciliary_dyskinesia_28'] | TCCATTGCATTGTCCCACGGGTATCCCAACACCCAACAGAACTCACAAGTCTTTCATGTTTGGGCCTCTGTTTACCTGTCCAGAGACTATCAAAGTTGTTCAGAGCCATTTCAATCTTAAGGTAAGAATGCTTTGCATTCAGTTCAAATCTGGGTTATGGCTGGGCACAGTGGCTCATGCCTGCAATCCCAGGACTTTGGAAGGCCAAGGAGAGAGGACTGCTTGAGACCAGGACTTTGAGACCATCCTGGACAACATAGCAAGGCCTCATCTGTATAAAAAATTTTAAACATTAGCCAGGCATGGTGGCTGGCTCTCAC... | TCCATTGCATTGTCCCACGGGTATCCCAACACCCAACAGAACTCACAAGTCTTTCATGTTTGGGCCTCTGTTTACCTGTCCAGAGACTATCAAAGTTGTTCAGAGCCATTTCAATCTTAAGGTAAGAATGCTTTGCATTCAGTTCAAATCTGGGTTATGGCTGGGCACAGTGGCTCATGCCTGCAATCCCAGGACTTTGGAAGGCCAAGGAGAGAGGACTGCTTGAGACCAGGACTTTGAGACCATCCTGGACAACATAGCAAGGCCTCATCTGTATAAAAAATTTTAAACATTAGCCAGGCATGGTGGCTGGCTCTCAC... | pathogenic | 138,092 |
Evaluate this variant at chromosome 8, position 100213267, gene SPAG1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_28', 'SPAG1-related_disorder'] | ATTGCATTGTCCCACGGGTATCCCAACACCCAACAGAACTCACAAGTCTTTCATGTTTGGGCCTCTGTTTACCTGTCCAGAGACTATCAAAGTTGTTCAGAGCCATTTCAATCTTAAGGTAAGAATGCTTTGCATTCAGTTCAAATCTGGGTTATGGCTGGGCACAGTGGCTCATGCCTGCAATCCCAGGACTTTGGAAGGCCAAGGAGAGAGGACTGCTTGAGACCAGGACTTTGAGACCATCCTGGACAACATAGCAAGGCCTCATCTGTATAAAAAATTTTAAACATTAGCCAGGCATGGTGGCTGGCTCTCACCTG... | ATTGCATTGTCCCACGGGTATCCCAACACCCAACAGAACTCACAAGTCTTTCATGTTTGGGCCTCTGTTTACCTGTCCAGAGACTATCAAAGTTGTTCAGAGCCATTTCAATCTTAAGGTAAGAATGCTTTGCATTCAGTTCAAATCTGGGTTATGGCTGGGCACAGTGGCTCATGCCTGCAATCCCAGGACTTTGGAAGGCCAAGGAGAGAGGACTGCTTGAGACCAGGACTTTGAGACCATCCTGGACAACATAGCAAGGCCTCATCTGTATAAAAAATTTTAAACATTAGCCAGGCATGGTGGCTGGCTCTCACCTG... | pathogenic | 138,093 |
Is the genetic variant on chromosome 8, position 101558399, gene GRHL2 (grainyhead like transcription factor 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CAACGCAGGCATCAGAGAGGGGGCAAAAGATGTATTTTCTCTCCACATTACTCAGAAGAATCCGTAAATTAGTGAGAGGTGGCCCCAAAATTGCACTGACCAGAGGGACTTGGCTAATAAAATCATTTTGCTGTCAACAATAATTTTCCATTAATGAGTTCTTATTTGTTTCTGCTCTCTCCCAGACTTCTTTAGTATAGATGAAAGTATTTTATTCTAGTCTGGCAAGAATTAATATTCTACATCCTCTCCTTTCTCTCTGTACCACCCAGGAGGTCTGAGATCTGGGAGATCTTGTTTTACATAAGCCAAGCTACACC... | CAACGCAGGCATCAGAGAGGGGGCAAAAGATGTATTTTCTCTCCACATTACTCAGAAGAATCCGTAAATTAGTGAGAGGTGGCCCCAAAATTGCACTGACCAGAGGGACTTGGCTAATAAAATCATTTTGCTGTCAACAATAATTTTCCATTAATGAGTTCTTATTTGTTTCTGCTCTCTCCCAGACTTCTTTAGTATAGATGAAAGTATTTTATTCTAGTCTGGCAAGAATTAATATTCTACATCCTCTCCTTTCTCTCTGTACCACCCAGGAGGTCTGAGATCTGGGAGATCTTGTTTTACATAAGCCAAGCTACACC... | benign | 138,137 |
Variant on chromosome 8, at position 102238611, affecting RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AATTGAGACTCTTTTGGGAGTTTTTTGGGGGACACAGGGTCAGTGACACTGAGGCACTGGTCTAATGAAGGATTAACTTGGCAATGGTAATTAGGATTGAATGGCAGGTAAGATAGGAGATAGAGAAACAACAAAATTATTATAGCCGCACAGGTGTAAAGTGATGAGAATTTGAAATAAAGTTTAGCAGTAGGCATTCCTTAGTGACATTCTGCTGTTTTTTCCAGAATGGTACTTCCAGTTTCCGACTGACTCAATTTCTGGTCACCCAGTTGGAAGACATGCCTGGGCATGTCAGGACAACAATTTAGGTCAAGATT... | AATTGAGACTCTTTTGGGAGTTTTTTGGGGGACACAGGGTCAGTGACACTGAGGCACTGGTCTAATGAAGGATTAACTTGGCAATGGTAATTAGGATTGAATGGCAGGTAAGATAGGAGATAGAGAAACAACAAAATTATTATAGCCGCACAGGTGTAAAGTGATGAGAATTTGAAATAAAGTTTAGCAGTAGGCATTCCTTAGTGACATTCTGCTGTTTTTTCCAGAATGGTACTTCCAGTTTCCGACTGACTCAATTTCTGGTCACCCAGTTGGAAGACATGCCTGGGCATGTCAGGACAACAATTTAGGTCAAGATT... | benign | 138,226 |
Evaluate the clinical significance of the mutation at chromosome 8, position 104427974 in gene DPYS (dihydropyrimidinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Dihydropyrimidinase_deficiency'] | ACATGGTTTTCTATATATTATTAAGAACTATTCAGTCACTGTAAAGCCATTTATATACCAGGGAACTATATAGATTATGAAAATCTGCTATAATAAAGATATTCATTGTAAAACAGAAGTTCAAGTGGAAGCTTGAACTTTTATCAAGAAAATCTAAGTGAAGAGAAGTCATCTGGGATGGTTAGAGTTAGGGTGGAGGAAGGGGGGTGAGGAAAATAATCAGCAGAAGATGAGGCTATAGAGATGTTTTGAAGATCTAATTGTAAGTTAATGATTCAACTATCATCCAATAAGTAATGGAGGCAAGTAAAGGGTTTTTG... | ACATGGTTTTCTATATATTATTAAGAACTATTCAGTCACTGTAAAGCCATTTATATACCAGGGAACTATATAGATTATGAAAATCTGCTATAATAAAGATATTCATTGTAAAACAGAAGTTCAAGTGGAAGCTTGAACTTTTATCAAGAAAATCTAAGTGAAGAGAAGTCATCTGGGATGGTTAGAGTTAGGGTGGAGGAAGGGGGGTGAGGAAAATAATCAGCAGAAGATGAGGCTATAGAGATGTTTTGAAGATCTAATTGTAAGTTAATGATTCAACTATCATCCAATAAGTAATGGAGGCAAGTAAAGGGTTTTTG... | pathogenic | 138,294 |
Is the variant located on chromosome 8 at position 104466819, gene DPYS (dihydropyrimidinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | TAATGTTTTGCTTCTTTTAATTTTCCTATTATTTTTCCAATTGTTTCCTACAATCACATATTGTTTTGATAGCTAAAAAATTCTTTAAAATGGAAAAATAAGTTCATTCAAATTCAGTGCATATTACTTTTTAGCAAAAGGGAAAAATGAATAAACAAAACAAAGTTTGCTAATTTTCAAACCATACAACAATCTGTCCTACAAAAGACTTTATTGACATAAAGATATAGGTTGATAATTAGTAATCAGGAAGAAGCTTTCCAAATGGTGATTTGAGCAGCCTGCCCAGATCCTTCTCTCTGGGTCAAATCTACCTGCCT... | TAATGTTTTGCTTCTTTTAATTTTCCTATTATTTTTCCAATTGTTTCCTACAATCACATATTGTTTTGATAGCTAAAAAATTCTTTAAAATGGAAAAATAAGTTCATTCAAATTCAGTGCATATTACTTTTTAGCAAAAGGGAAAAATGAATAAACAAAACAAAGTTTGCTAATTTTCAAACCATACAACAATCTGTCCTACAAAAGACTTTATTGACATAAAGATATAGGTTGATAATTAGTAATCAGGAAGAAGCTTTCCAAATGGTGATTTGAGCAGCCTGCCCAGATCCTTCTCTCTGGGTCAAATCTACCTGCCT... | pathogenic | 138,312 |
Evaluate the clinical significance of the mutation at chromosome 8, position 105798739 in gene ZFPM2: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Diaphragmatic_hernia_3'] | AATTATAAGATCAGCCATTTCTGCAGAGTTTTAGGCCTCTGTTGCCATTTTTCCCATGTTCTTCTGTATTTCTTACAGAAATATCAGATTCCACATGTCTAACGTGAACATGTGCCACTGTTTGCCTGGCTTAGTCCCATTGTACATTTTTATCTGGCATCCCTCTGGATGGTGACTCCTTTCCTCTACGAAAGTCCTGAGTTTGCACAATACAAGGTCAGATTTGGTCACCCTGTACATGCCCTAGCCTGAAGACATCACCTCTCCATCCTCTGTTCCCTGTGTAGATGAATGAAGCCATTACTGACACAGAAGCTTGG... | AATTATAAGATCAGCCATTTCTGCAGAGTTTTAGGCCTCTGTTGCCATTTTTCCCATGTTCTTCTGTATTTCTTACAGAAATATCAGATTCCACATGTCTAACGTGAACATGTGCCACTGTTTGCCTGGCTTAGTCCCATTGTACATTTTTATCTGGCATCCCTCTGGATGGTGACTCCTTTCCTCTACGAAAGTCCTGAGTTTGCACAATACAAGGTCAGATTTGGTCACCCTGTACATGCCCTAGCCTGAAGACATCACCTCTCCATCCTCTGTTCCCTGTGTAGATGAATGAAGCCATTACTGACACAGAAGCTTGG... | pathogenic | 138,333 |
Determine if the mutation at chromosome 8, position 105801037 in gene ZFPM2 is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CTGTTATTTTTATAAATATATATGCATTACATGTATACGTCTATATCTGTCTATCTGTAGCTATCTATAACATCAAAATCAAACTTTCTGGGTCAACCAGTGTGATCTTATGCCACTTATACTCAGCATATGTTACTCAAAGGACTTGGGTCTGAATTCTTTTCTTACAAATTCAGAGGCCAAATCATTCTATTTGTTCTCAACTGAGGTTTTAAAAAAGCACATTATTTTAAAAAGAAAATCTCAATACCCTTTGAATATTGCCATTTATTGCTTTAGTGTCAAGCAATCTTTGGAAACTGATCATAGTGTTTCCTATA... | CTGTTATTTTTATAAATATATATGCATTACATGTATACGTCTATATCTGTCTATCTGTAGCTATCTATAACATCAAAATCAAACTTTCTGGGTCAACCAGTGTGATCTTATGCCACTTATACTCAGCATATGTTACTCAAAGGACTTGGGTCTGAATTCTTTTCTTACAAATTCAGAGGCCAAATCATTCTATTTGTTCTCAACTGAGGTTTTAAAAAAGCACATTATTTTAAAAAGAAAATCTCAATACCCTTTGAATATTGCCATTTATTGCTTTAGTGTCAAGCAATCTTTGGAAACTGATCATAGTGTTTCCTATA... | benign | 138,335 |
Chromosome 8, position 107958036, gene RSPO2 (R-spondin 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CTTCTCCATTCTTCCACTAGTCGCCATGACCTATTGAAGAAAGGAACTTTTCTCTCTCTCACCTGAGGCAAGGTAGGATACTCCCCTGGAAGTTACGCCAATTTTTATCAATCGGTGCTCAAGTTACAAAGCTAATTTTGTAGTTTTCATTTCCTACATTTTTAAATATAAGTAACCTTATTACAGAATAATTTGCCATTTCTCTCAACAATTATATTTAGTTTCCTTTCAATAAAATAGTAAAAAATGATATAACTTTGAAAACCTATTTAAAGGTTATATAAAATTGATTTTATTAAACTGAAAATGTAGACACAAGA... | CTTCTCCATTCTTCCACTAGTCGCCATGACCTATTGAAGAAAGGAACTTTTCTCTCTCTCACCTGAGGCAAGGTAGGATACTCCCCTGGAAGTTACGCCAATTTTTATCAATCGGTGCTCAAGTTACAAAGCTAATTTTGTAGTTTTCATTTCCTACATTTTTAAATATAAGTAACCTTATTACAGAATAATTTGCCATTTCTCTCAACAATTATATTTAGTTTCCTTTCAATAAAATAGTAAAAAATGATATAACTTTGAAAACCTATTTAAAGGTTATATAAAATTGATTTTATTAAACTGAAAATGTAGACACAAGA... | benign | 138,374 |
Variant at chromosome position 115418427, chromosome 8, gene TRPS1 (transcriptional repressor GATA binding 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Langer-Giedion_syndrome'] | CTTTAAATGGGCTAAAGTCTGATTTTTCTAAAAGATTACTGAAATCAGAAAATAATTTCCACATAAAACATGACTATAAATATAATTTATAAATTTAACTTTATAAATTATACATTATGTGTATATAATGTATAATTTTATAAATTATAAAATTTTAAATATAAACATAAATATTCATAAACATGTTATAATAATATAAATATAATATAAATTTAAAAAAACATAAATATAAGTGTAATTTGTAAATTATTCCTAGAAGTGATACACTTGAATGAAAGGGAGTACCTCTTGTATCTTAAATAAGTACAACTATAAATCCT... | CTTTAAATGGGCTAAAGTCTGATTTTTCTAAAAGATTACTGAAATCAGAAAATAATTTCCACATAAAACATGACTATAAATATAATTTATAAATTTAACTTTATAAATTATACATTATGTGTATATAATGTATAATTTTATAAATTATAAAATTTTAAATATAAACATAAATATTCATAAACATGTTATAATAATATAAATATAATATAAATTTAAAAAAACATAAATATAAGTGTAATTTGTAAATTATTCCTAGAAGTGATACACTTGAATGAAAGGGAGTACCTCTTGTATCTTAAATAAGTACAACTATAAATCCT... | pathogenic | 138,424 |
Is chromosome 8, position 115418459, gene TRPS1 (transcriptional repressor GATA binding 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AGATTACTGAAATCAGAAAATAATTTCCACATAAAACATGACTATAAATATAATTTATAAATTTAACTTTATAAATTATACATTATGTGTATATAATGTATAATTTTATAAATTATAAAATTTTAAATATAAACATAAATATTCATAAACATGTTATAATAATATAAATATAATATAAATTTAAAAAAACATAAATATAAGTGTAATTTGTAAATTATTCCTAGAAGTGATACACTTGAATGAAAGGGAGTACCTCTTGTATCTTAAATAAGTACAACTATAAATCCTTTTTGGAACATTTCTGTTGTTACAAACATACT... | AGATTACTGAAATCAGAAAATAATTTCCACATAAAACATGACTATAAATATAATTTATAAATTTAACTTTATAAATTATACATTATGTGTATATAATGTATAATTTTATAAATTATAAAATTTTAAATATAAACATAAATATTCATAAACATGTTATAATAATATAAATATAATATAAATTTAAAAAAACATAAATATAAGTGTAATTTGTAAATTATTCCTAGAAGTGATACACTTGAATGAAAGGGAGTACCTCTTGTATCTTAAATAAGTACAACTATAAATCCTTTTTGGAACATTTCTGTTGTTACAAACATACT... | benign | 138,425 |
A genetic variant at chromosome 8, position 115587356, affecting gene TRPS1 (transcriptional repressor GATA binding 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Trichorhinophalangeal_dysplasia_type_I', 'Trichorhinophalangeal_syndrome,_type_III'] | GTTTTTTATACCATTGCTTAATAAATTGTCATTTCAAAGTCTTAGAGTATATAAACAATGGCAGAAAAGGTAATATTCCAGAAACAGTCAAACAATATGGTGTCAAATGAAGATGTCATGGATGAAACCAATTTTAAGTAGAAAAAGGAAGGAAAGGGGTTCCGGTGATATAGATATAAGGCCCCCAAATATACCATACTCTCAAAATGCAGTATGAATTTAATAAAACATAGGACATTTCATTCCCGCCTTATAACCAGAAGCCATGAGTCACTTGAGGCCAGAAGAGTAATGACATGCTGAGAAAACAACAAATATTG... | GTTTTTTATACCATTGCTTAATAAATTGTCATTTCAAAGTCTTAGAGTATATAAACAATGGCAGAAAAGGTAATATTCCAGAAACAGTCAAACAATATGGTGTCAAATGAAGATGTCATGGATGAAACCAATTTTAAGTAGAAAAAGGAAGGAAAGGGGTTCCGGTGATATAGATATAAGGCCCCCAAATATACCATACTCTCAAAATGCAGTATGAATTTAATAAAACATAGGACATTTCATTCCCGCCTTATAACCAGAAGCCATGAGTCACTTGAGGCCAGAAGAGTAATGACATGCTGAGAAAACAACAAATATTG... | pathogenic | 138,433 |
Does the variant on chromosome 8 at location 115604792 affecting gene TRPS1 (transcriptional repressor GATA binding 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Trichorhinophalangeal_dysplasia_type_I', 'Trichorhinophalangeal_syndrome,_type_III'] | GGTATAGTAAGTAAAGCTTTCTACTTTGATGCTGAAAGGCATAATAATGAGAAAGTACCCAATGAGCACTAAATAATACCTAAACGCAGGGTACCACCAATGCTTTGCTGAACTAATTCCTATTTATAACCAAGTCTCAGTTTAAATGCTCCTTCCCGAGGAAGTAATTTCCTAATCTACCATATTAGGTTATGTTATCATTATATTCAAACACACTGCCTTGTACTTCATCTTTTATGACACTTATTACTCTTGTAATCATCTAAGTGTCTCATCTTCCCTACTAAACTGTAAGTTCCATGAGGGCACTGACTATGTCT... | GGTATAGTAAGTAAAGCTTTCTACTTTGATGCTGAAAGGCATAATAATGAGAAAGTACCCAATGAGCACTAAATAATACCTAAACGCAGGGTACCACCAATGCTTTGCTGAACTAATTCCTATTTATAACCAAGTCTCAGTTTAAATGCTCCTTCCCGAGGAAGTAATTTCCTAATCTACCATATTAGGTTATGTTATCATTATATTCAAACACACTGCCTTGTACTTCATCTTTTATGACACTTATTACTCTTGTAATCATCTAAGTGTCTCATCTTCCCTACTAAACTGTAAGTTCCATGAGGGCACTGACTATGTCT... | pathogenic | 138,446 |
Located at chromosome 8 position 115623645, the variant affecting gene TRPS1 (transcriptional repressor GATA binding 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GAAAAATAGCATAATGGTACTTAAGAAAGTACACTGGGCCAAGCACAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTGACCAACATGGCGAAATTCCATCTCTACAAAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCGACAAGAGTGAAACTCCATCTC... | GAAAAATAGCATAATGGTACTTAAGAAAGTACACTGGGCCAAGCACAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTGACCAACATGGCGAAATTCCATCTCTACAAAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCGACAAGAGTGAAACTCCATCTC... | benign | 138,462 |
The genetic variant at chromosome 8, position 116847619, affecting gene RAD21 (RAD21 cohesin complex component): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cornelia_de_Lange_syndrome_4'] | GTACACACATAGCATGTCAGTTTGTATGTACTTAGCAGTTACAGAGATATATTTATGCCCCAAAGCTTCCTCTGTACCAGCCATTTGTTGGTTTCATTTTTAATCTTAATACCTTCACACATAACAATTATATATTTATTAAAATTTCAGATCACCTAGTTCTGTTAACAAAGAAGGTTGGAGACAAGCTAGTCTGTCTTCCATTTTTTAGTCTAAGACCTCTTTCTTTTGAAAAATTCATTTGGTTTGTATGGATAACTATTCTAGATAAGGCAAACAAACGAAGTGTTTGGCTCTATTAACTTTTTCAGCCAACTTTC... | GTACACACATAGCATGTCAGTTTGTATGTACTTAGCAGTTACAGAGATATATTTATGCCCCAAAGCTTCCTCTGTACCAGCCATTTGTTGGTTTCATTTTTAATCTTAATACCTTCACACATAACAATTATATATTTATTAAAATTTCAGATCACCTAGTTCTGTTAACAAAGAAGGTTGGAGACAAGCTAGTCTGTCTTCCATTTTTTAGTCTAAGACCTCTTTCTTTTGAAAAATTCATTTGGTTTGTATGGATAACTATTCTAGATAAGGCAAACAAACGAAGTGTTTGGCTCTATTAACTTTTTCAGCCAACTTTC... | pathogenic | 138,469 |
A genetic alteration at chromosome 8, position 116849014, in gene RAD21 (RAD21 cohesin complex component)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cornelia_de_Lange_syndrome_4'] | TTAAAACGAATCTCAAGAGGGTGACCATTGTTGTTTCAGATACCATCCCTAAGGAGAGTGGTTAACAGGAAGATTGCCAGTGTTACTGATGGAAAGAAGTGTTTGTTTGTTTTTTTTTCTTGTCAAAGACTTACACCATAGTTTTAAATTAAACTGTCAGGCATTTTCTCAGACAGGTTTTCCTTTTCAATGCAGTAATGAAGAACTAAGATAAAAATCATGACTTTTGACTGCCACTCAACATTATTACATGCACCAATATTGCACACATCTGTTCTGAACTGTTAAAATCATCTTCTGAGTCCTTGGGGTGCTGTTTT... | TTAAAACGAATCTCAAGAGGGTGACCATTGTTGTTTCAGATACCATCCCTAAGGAGAGTGGTTAACAGGAAGATTGCCAGTGTTACTGATGGAAAGAAGTGTTTGTTTGTTTTTTTTTCTTGTCAAAGACTTACACCATAGTTTTAAATTAAACTGTCAGGCATTTTCTCAGACAGGTTTTCCTTTTCAATGCAGTAATGAAGAACTAAGATAAAAATCATGACTTTTGACTGCCACTCAACATTATTACATGCACCAATATTGCACACATCTGTTCTGAACTGTTAAAATCATCTTCTGAGTCCTTGGGGTGCTGTTTT... | pathogenic | 138,474 |
Considering the genetic mutation at chromosome 8, position 116852713, impacting RAD21 (RAD21 cohesin complex component): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTTCTGGCAGAAGTTCTAACTCTGGTATTAGCTGACAGATATTTGGAGGTTCTTCTGGGGGAAGCTCTACAGGTGGTATTTCCATCTGCTCTACCTGCTGAGGCTTAAAGCAATACAAATAAGACAATTTAAGATATATGCTTTTAAAGTAGCTTATTTTAAATATGAAAATACACAGTGGCTGAAGTTTTCTAGTCAAAAAGAAATACTGAGATTATATCTCTATACTTCCCCACAAGGAAAAATTTATTACAGTATATATCTTTTTTGATTTTTTATAAAACTACATTGAAGTAGCTTACAAAAGAAACTGACTGCTT... | TTTCTGGCAGAAGTTCTAACTCTGGTATTAGCTGACAGATATTTGGAGGTTCTTCTGGGGGAAGCTCTACAGGTGGTATTTCCATCTGCTCTACCTGCTGAGGCTTAAAGCAATACAAATAAGACAATTTAAGATATATGCTTTTAAAGTAGCTTATTTTAAATATGAAAATACACAGTGGCTGAAGTTTTCTAGTCAAAAAGAAATACTGAGATTATATCTCTATACTTCCCCACAAGGAAAAATTTATTACAGTATATATCTTTTTTGATTTTTTATAAAACTACATTGAAGTAGCTTACAAAAGAAACTGACTGCTT... | benign | 138,495 |
Mutation at chromosome 8, position 116856292, within RAD21 (RAD21 cohesin complex component): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CCTTCAGTAGTCTGTTATTCCACAAAGGCTGAGCAGGTAAAGAAAACAGTTTTTCTACTCCTCCTGTCTCTTTCCACATCATCAATTTCTTGGTGGGCGGTGCCAGATCCAAAGTAGTAACAATATCTGAATAATCACTAAGTTGGGCTCTAATTGTCTTGCTATCCAACTCTTTGACACTGTCAACAATTAGCTTCCTCTTCCTCTTGGCTTTTGTTTCTTTAACTGGAATGATAATAAAAAATAAGATCATTTTCCTGAGAGGCCAGCATGGAACACACAGCTACAAGATCTGGACTGACTATATTCCCCTGCTTTTC... | CCTTCAGTAGTCTGTTATTCCACAAAGGCTGAGCAGGTAAAGAAAACAGTTTTTCTACTCCTCCTGTCTCTTTCCACATCATCAATTTCTTGGTGGGCGGTGCCAGATCCAAAGTAGTAACAATATCTGAATAATCACTAAGTTGGGCTCTAATTGTCTTGCTATCCAACTCTTTGACACTGTCAACAATTAGCTTCCTCTTCCTCTTGGCTTTTGTTTCTTTAACTGGAATGATAATAAAAAATAAGATCATTTTCCTGAGAGGCCAGCATGGAACACACAGCTACAAGATCTGGACTGACTATATTCCCCTGCTTTTC... | benign | 138,502 |
Considering the genetic mutation at chromosome 8, position 116856292, impacting RAD21 (RAD21 cohesin complex component): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCTTCAGTAGTCTGTTATTCCACAAAGGCTGAGCAGGTAAAGAAAACAGTTTTTCTACTCCTCCTGTCTCTTTCCACATCATCAATTTCTTGGTGGGCGGTGCCAGATCCAAAGTAGTAACAATATCTGAATAATCACTAAGTTGGGCTCTAATTGTCTTGCTATCCAACTCTTTGACACTGTCAACAATTAGCTTCCTCTTCCTCTTGGCTTTTGTTTCTTTAACTGGAATGATAATAAAAAATAAGATCATTTTCCTGAGAGGCCAGCATGGAACACACAGCTACAAGATCTGGACTGACTATATTCCCCTGCTTTTC... | CCTTCAGTAGTCTGTTATTCCACAAAGGCTGAGCAGGTAAAGAAAACAGTTTTTCTACTCCTCCTGTCTCTTTCCACATCATCAATTTCTTGGTGGGCGGTGCCAGATCCAAAGTAGTAACAATATCTGAATAATCACTAAGTTGGGCTCTAATTGTCTTGCTATCCAACTCTTTGACACTGTCAACAATTAGCTTCCTCTTCCTCTTGGCTTTTGTTTCTTTAACTGGAATGATAATAAAAAATAAGATCATTTTCCTGAGAGGCCAGCATGGAACACACAGCTACAAGATCTGGACTGACTATATTCCCCTGCTTTTC... | benign | 138,503 |
A genetic variant on chromosome 8, position 116856292, affects the gene RAD21 (RAD21 cohesin complex component). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CCTTCAGTAGTCTGTTATTCCACAAAGGCTGAGCAGGTAAAGAAAACAGTTTTTCTACTCCTCCTGTCTCTTTCCACATCATCAATTTCTTGGTGGGCGGTGCCAGATCCAAAGTAGTAACAATATCTGAATAATCACTAAGTTGGGCTCTAATTGTCTTGCTATCCAACTCTTTGACACTGTCAACAATTAGCTTCCTCTTCCTCTTGGCTTTTGTTTCTTTAACTGGAATGATAATAAAAAATAAGATCATTTTCCTGAGAGGCCAGCATGGAACACACAGCTACAAGATCTGGACTGACTATATTCCCCTGCTTTTC... | CCTTCAGTAGTCTGTTATTCCACAAAGGCTGAGCAGGTAAAGAAAACAGTTTTTCTACTCCTCCTGTCTCTTTCCACATCATCAATTTCTTGGTGGGCGGTGCCAGATCCAAAGTAGTAACAATATCTGAATAATCACTAAGTTGGGCTCTAATTGTCTTGCTATCCAACTCTTTGACACTGTCAACAATTAGCTTCCTCTTCCTCTTGGCTTTTGTTTCTTTAACTGGAATGATAATAAAAAATAAGATCATTTTCCTGAGAGGCCAGCATGGAACACACAGCTACAAGATCTGGACTGACTATATTCCCCTGCTTTTC... | benign | 138,504 |
The genetic variant at chromosome 8, position 116856292, affecting gene RAD21 (RAD21 cohesin complex component): benign or pathogenic? Disease name(s) if pathogenic? | benign | CCTTCAGTAGTCTGTTATTCCACAAAGGCTGAGCAGGTAAAGAAAACAGTTTTTCTACTCCTCCTGTCTCTTTCCACATCATCAATTTCTTGGTGGGCGGTGCCAGATCCAAAGTAGTAACAATATCTGAATAATCACTAAGTTGGGCTCTAATTGTCTTGCTATCCAACTCTTTGACACTGTCAACAATTAGCTTCCTCTTCCTCTTGGCTTTTGTTTCTTTAACTGGAATGATAATAAAAAATAAGATCATTTTCCTGAGAGGCCAGCATGGAACACACAGCTACAAGATCTGGACTGACTATATTCCCCTGCTTTTC... | CCTTCAGTAGTCTGTTATTCCACAAAGGCTGAGCAGGTAAAGAAAACAGTTTTTCTACTCCTCCTGTCTCTTTCCACATCATCAATTTCTTGGTGGGCGGTGCCAGATCCAAAGTAGTAACAATATCTGAATAATCACTAAGTTGGGCTCTAATTGTCTTGCTATCCAACTCTTTGACACTGTCAACAATTAGCTTCCTCTTCCTCTTGGCTTTTGTTTCTTTAACTGGAATGATAATAAAAAATAAGATCATTTTCCTGAGAGGCCAGCATGGAACACACAGCTACAAGATCTGGACTGACTATATTCCCCTGCTTTTC... | benign | 138,505 |
Variant at chromosome 8, position 116856774, gene RAD21 (RAD21 cohesin complex component): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ACGCAAGGGCCAACACATTTTTGCCTATGTAGTTTTATACTGTAAACAATGAACATATCACACTCTTCAGAGTTGGGCTCATTTTCTCATTTGAAACAGGGCCCATCACTCAAACTCACAGATTGAGTTTTCTTTAATGATTGTAAATACTGTTATTTTTATTAGAAAAGTTGTAATTCACATATGGCAGTTGTGGAAGCTGCTTGATAGAATGAAACAAGCCCAAGCCCAGTCAGATAGACCTGTTAACTCCATCCTAGACATTTTAAGAGTCATTTCTAATCCTTACAACTTACAAGTAGGTTGTATTGCCTCACTTT... | ACGCAAGGGCCAACACATTTTTGCCTATGTAGTTTTATACTGTAAACAATGAACATATCACACTCTTCAGAGTTGGGCTCATTTTCTCATTTGAAACAGGGCCCATCACTCAAACTCACAGATTGAGTTTTCTTTAATGATTGTAAATACTGTTATTTTTATTAGAAAAGTTGTAATTCACATATGGCAGTTGTGGAAGCTGCTTGATAGAATGAAACAAGCCCAAGCCCAGTCAGATAGACCTGTTAACTCCATCCTAGACATTTTAAGAGTCATTTCTAATCCTTACAACTTACAAGTAGGTTGTATTGCCTCACTTT... | benign | 138,507 |
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