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 |
|---|---|---|---|---|---|
A genetic alteration at chromosome 15, position 44565880, in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | TACCACTTACTATTACCTATAGAGGAGAGGGTGCTGGAGTCTGGGTTATCTCAGACTAGTATTAGGGGTGCTTGATAAAATATTTCTTTAAAAATGAGTATGTTAATGCTTACCTTATAGAGTAAGTTTAGTACTCCAAAAGGCACCTCTGATGTTTTAGTGTTTTTCGTTTCTTTTTTTGAGACAAGAGTCACACTCTGTTGCCAGGCTGGAGTATAGTGGCACGATCTCAGCTTACTGCAGCCTCTGTCCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCAGCTACCACAC... | TACCACTTACTATTACCTATAGAGGAGAGGGTGCTGGAGTCTGGGTTATCTCAGACTAGTATTAGGGGTGCTTGATAAAATATTTCTTTAAAAATGAGTATGTTAATGCTTACCTTATAGAGTAAGTTTAGTACTCCAAAAGGCACCTCTGATGTTTTAGTGTTTTTCGTTTCTTTTTTTGAGACAAGAGTCACACTCTGTTGCCAGGCTGGAGTATAGTGGCACGATCTCAGCTTACTGCAGCCTCTGTCCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCAGCTACCACAC... | pathogenic | 231,251 |
Does the variant on chromosome 15 at location 44565880 affecting gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | TACCACTTACTATTACCTATAGAGGAGAGGGTGCTGGAGTCTGGGTTATCTCAGACTAGTATTAGGGGTGCTTGATAAAATATTTCTTTAAAAATGAGTATGTTAATGCTTACCTTATAGAGTAAGTTTAGTACTCCAAAAGGCACCTCTGATGTTTTAGTGTTTTTCGTTTCTTTTTTTGAGACAAGAGTCACACTCTGTTGCCAGGCTGGAGTATAGTGGCACGATCTCAGCTTACTGCAGCCTCTGTCCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCAGCTACCACAC... | TACCACTTACTATTACCTATAGAGGAGAGGGTGCTGGAGTCTGGGTTATCTCAGACTAGTATTAGGGGTGCTTGATAAAATATTTCTTTAAAAATGAGTATGTTAATGCTTACCTTATAGAGTAAGTTTAGTACTCCAAAAGGCACCTCTGATGTTTTAGTGTTTTTCGTTTCTTTTTTTGAGACAAGAGTCACACTCTGTTGCCAGGCTGGAGTATAGTGGCACGATCTCAGCTTACTGCAGCCTCTGTCCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCAGCTACCACAC... | pathogenic | 231,252 |
Is the genetic change at chromosome 15, position 44566226, within gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | AGACAGGGTTTCACCATGTTGGCAAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCCGCCTCGGCCTCCCATAGTGCTGGGATTACAGGCATGAGCCACTGGGCCTGGCCAGTGTTTTAGGTTTTTGGCACTGAGTAGCTATCCTCCCATTTTAAAGTACAAAGCACTATGAGCAAACTGTTCTTGTTGATCTCTTTGCATAAATCTGTTAAAAGACTTCCTTCTAAGGATTCTTGATACTGCTTTGCCATTTTAAGTAGAGGTAATCTAAAGGCATGGTGTACTTAGCCATAAAATTCTTACACTTGTCTCACC... | AGACAGGGTTTCACCATGTTGGCAAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCCGCCTCGGCCTCCCATAGTGCTGGGATTACAGGCATGAGCCACTGGGCCTGGCCAGTGTTTTAGGTTTTTGGCACTGAGTAGCTATCCTCCCATTTTAAAGTACAAAGCACTATGAGCAAACTGTTCTTGTTGATCTCTTTGCATAAATCTGTTAAAAGACTTCCTTCTAAGGATTCTTGATACTGCTTTGCCATTTTAAGTAGAGGTAATCTAAAGGCATGGTGTACTTAGCCATAAAATTCTTACACTTGTCTCACC... | pathogenic | 231,259 |
The mutation impacting SPG11 (SPG11 vesicle trafficking associated, spatacsin) on chromosome 15 at position 44566247: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Abnormal_central_motor_function', 'Hereditary_spastic_paraplegia_11'] | GCAAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCCGCCTCGGCCTCCCATAGTGCTGGGATTACAGGCATGAGCCACTGGGCCTGGCCAGTGTTTTAGGTTTTTGGCACTGAGTAGCTATCCTCCCATTTTAAAGTACAAAGCACTATGAGCAAACTGTTCTTGTTGATCTCTTTGCATAAATCTGTTAAAAGACTTCCTTCTAAGGATTCTTGATACTGCTTTGCCATTTTAAGTAGAGGTAATCTAAAGGCATGGTGTACTTAGCCATAAAATTCTTACACTTGTCTCACCTCAAAGCAGAGGCAAGGAGCA... | GCAAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCCGCCTCGGCCTCCCATAGTGCTGGGATTACAGGCATGAGCCACTGGGCCTGGCCAGTGTTTTAGGTTTTTGGCACTGAGTAGCTATCCTCCCATTTTAAAGTACAAAGCACTATGAGCAAACTGTTCTTGTTGATCTCTTTGCATAAATCTGTTAAAAGACTTCCTTCTAAGGATTCTTGATACTGCTTTGCCATTTTAAGTAGAGGTAATCTAAAGGCATGGTGTACTTAGCCATAAAATTCTTACACTTGTCTCACCTCAAAGCAGAGGCAAGGAGCA... | pathogenic | 231,260 |
Chromosome 15, position 44566319, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GCATGAGCCACTGGGCCTGGCCAGTGTTTTAGGTTTTTGGCACTGAGTAGCTATCCTCCCATTTTAAAGTACAAAGCACTATGAGCAAACTGTTCTTGTTGATCTCTTTGCATAAATCTGTTAAAAGACTTCCTTCTAAGGATTCTTGATACTGCTTTGCCATTTTAAGTAGAGGTAATCTAAAGGCATGGTGTACTTAGCCATAAAATTCTTACACTTGTCTCACCTCAAAGCAGAGGCAAGGAGCAATGTTTACAGTCAACTTTTAATACTTACTTTTTGGAAATCTCTTCAAATATACTGGACTTTAATAACCTTTG... | GCATGAGCCACTGGGCCTGGCCAGTGTTTTAGGTTTTTGGCACTGAGTAGCTATCCTCCCATTTTAAAGTACAAAGCACTATGAGCAAACTGTTCTTGTTGATCTCTTTGCATAAATCTGTTAAAAGACTTCCTTCTAAGGATTCTTGATACTGCTTTGCCATTTTAAGTAGAGGTAATCTAAAGGCATGGTGTACTTAGCCATAAAATTCTTACACTTGTCTCACCTCAAAGCAGAGGCAAGGAGCAATGTTTACAGTCAACTTTTAATACTTACTTTTTGGAAATCTCTTCAAATATACTGGACTTTAATAACCTTTG... | benign | 231,262 |
A genetic variant on chromosome 15, position 44567435, affects the gene SPG11 (SPG11 vesicle trafficking associated, spatacsin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | ATCAGGCATTAGATTTTCATAAGAAGCCCTTGCATGTGCAGTTCACAACAGGGTTCATGCTCCTATAAAAATATAGTCCTGTCACTGATCTGACAGGAGATGGTGTGCAGGCAGTAATGCTTGCTTGCCCAGTGCTCACTTGCTGTGCGGCCTGGTTCCTAGCAGGCCATGGGCCAGTACCAGTCTGCAGCCTGGGGTTAAAGGGCCAAAGGTGTCTGCCTCTCTGCTGGCCTAACAGCACAGGAAAGGGAGACAGCACTGTCTTACCATTCTCTAACCTCTGCCCAACAATATACTAGAGAGAAATACATCAAATTGCC... | ATCAGGCATTAGATTTTCATAAGAAGCCCTTGCATGTGCAGTTCACAACAGGGTTCATGCTCCTATAAAAATATAGTCCTGTCACTGATCTGACAGGAGATGGTGTGCAGGCAGTAATGCTTGCTTGCCCAGTGCTCACTTGCTGTGCGGCCTGGTTCCTAGCAGGCCATGGGCCAGTACCAGTCTGCAGCCTGGGGTTAAAGGGCCAAAGGTGTCTGCCTCTCTGCTGGCCTAACAGCACAGGAAAGGGAGACAGCACTGTCTTACCATTCTCTAACCTCTGCCCAACAATATACTAGAGAGAAATACATCAAATTGCC... | pathogenic | 231,265 |
Evaluate the clinical significance of the mutation at chromosome 15, position 44567437 in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | CAGGCATTAGATTTTCATAAGAAGCCCTTGCATGTGCAGTTCACAACAGGGTTCATGCTCCTATAAAAATATAGTCCTGTCACTGATCTGACAGGAGATGGTGTGCAGGCAGTAATGCTTGCTTGCCCAGTGCTCACTTGCTGTGCGGCCTGGTTCCTAGCAGGCCATGGGCCAGTACCAGTCTGCAGCCTGGGGTTAAAGGGCCAAAGGTGTCTGCCTCTCTGCTGGCCTAACAGCACAGGAAAGGGAGACAGCACTGTCTTACCATTCTCTAACCTCTGCCCAACAATATACTAGAGAGAAATACATCAAATTGCCGT... | CAGGCATTAGATTTTCATAAGAAGCCCTTGCATGTGCAGTTCACAACAGGGTTCATGCTCCTATAAAAATATAGTCCTGTCACTGATCTGACAGGAGATGGTGTGCAGGCAGTAATGCTTGCTTGCCCAGTGCTCACTTGCTGTGCGGCCTGGTTCCTAGCAGGCCATGGGCCAGTACCAGTCTGCAGCCTGGGGTTAAAGGGCCAAAGGTGTCTGCCTCTCTGCTGGCCTAACAGCACAGGAAAGGGAGACAGCACTGTCTTACCATTCTCTAACCTCTGCCCAACAATATACTAGAGAGAAATACATCAAATTGCCGT... | pathogenic | 231,266 |
Located at chromosome 15 position 44567439, the variant affecting gene SPG11 (SPG11 vesicle trafficking associated, spatacsin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | GGCATTAGATTTTCATAAGAAGCCCTTGCATGTGCAGTTCACAACAGGGTTCATGCTCCTATAAAAATATAGTCCTGTCACTGATCTGACAGGAGATGGTGTGCAGGCAGTAATGCTTGCTTGCCCAGTGCTCACTTGCTGTGCGGCCTGGTTCCTAGCAGGCCATGGGCCAGTACCAGTCTGCAGCCTGGGGTTAAAGGGCCAAAGGTGTCTGCCTCTCTGCTGGCCTAACAGCACAGGAAAGGGAGACAGCACTGTCTTACCATTCTCTAACCTCTGCCCAACAATATACTAGAGAGAAATACATCAAATTGCCGTTC... | GGCATTAGATTTTCATAAGAAGCCCTTGCATGTGCAGTTCACAACAGGGTTCATGCTCCTATAAAAATATAGTCCTGTCACTGATCTGACAGGAGATGGTGTGCAGGCAGTAATGCTTGCTTGCCCAGTGCTCACTTGCTGTGCGGCCTGGTTCCTAGCAGGCCATGGGCCAGTACCAGTCTGCAGCCTGGGGTTAAAGGGCCAAAGGTGTCTGCCTCTCTGCTGGCCTAACAGCACAGGAAAGGGAGACAGCACTGTCTTACCATTCTCTAACCTCTGCCCAACAATATACTAGAGAGAAATACATCAAATTGCCGTTC... | pathogenic | 231,267 |
Variant in SPG11 (SPG11 vesicle trafficking associated, spatacsin), chromosome 15, position 44570550—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | AAATGTTCTGGAAACAGGTACTGTGAGGAGTATGCTCGGTGTCACAGAGGACACTGAGGACACACGGGCTTGCAGAGCCCAAGACTTAAACAAGTCAGGCCTTTGCTTCCAAGCCGCCTTCCTGTTCATCATCATAAATGGCTCCACAGCTTTTTGGTCTAAACTTTTGTGTTTGATTCCCAACCTGGCTCTTAGCAGCACAATTTTTCACAGTCTCCTGAAAACTCTCCACTCTAAAAGCCCTCAAACAACCTCAGAGCTAGACAATCCACTTTCAGCCTGGCTCAGGGTTTTTGCCCCTGCCAGAGAAGGCATTTAAG... | AAATGTTCTGGAAACAGGTACTGTGAGGAGTATGCTCGGTGTCACAGAGGACACTGAGGACACACGGGCTTGCAGAGCCCAAGACTTAAACAAGTCAGGCCTTTGCTTCCAAGCCGCCTTCCTGTTCATCATCATAAATGGCTCCACAGCTTTTTGGTCTAAACTTTTGTGTTTGATTCCCAACCTGGCTCTTAGCAGCACAATTTTTCACAGTCTCCTGAAAACTCTCCACTCTAAAAGCCCTCAAACAACCTCAGAGCTAGACAATCCACTTTCAGCCTGGCTCAGGGTTTTTGCCCCTGCCAGAGAAGGCATTTAAG... | pathogenic | 231,274 |
Is chromosome 15, position 44570563, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | ACAGGTACTGTGAGGAGTATGCTCGGTGTCACAGAGGACACTGAGGACACACGGGCTTGCAGAGCCCAAGACTTAAACAAGTCAGGCCTTTGCTTCCAAGCCGCCTTCCTGTTCATCATCATAAATGGCTCCACAGCTTTTTGGTCTAAACTTTTGTGTTTGATTCCCAACCTGGCTCTTAGCAGCACAATTTTTCACAGTCTCCTGAAAACTCTCCACTCTAAAAGCCCTCAAACAACCTCAGAGCTAGACAATCCACTTTCAGCCTGGCTCAGGGTTTTTGCCCCTGCCAGAGAAGGCATTTAAGACAGTAGAGGCAG... | ACAGGTACTGTGAGGAGTATGCTCGGTGTCACAGAGGACACTGAGGACACACGGGCTTGCAGAGCCCAAGACTTAAACAAGTCAGGCCTTTGCTTCCAAGCCGCCTTCCTGTTCATCATCATAAATGGCTCCACAGCTTTTTGGTCTAAACTTTTGTGTTTGATTCCCAACCTGGCTCTTAGCAGCACAATTTTTCACAGTCTCCTGAAAACTCTCCACTCTAAAAGCCCTCAAACAACCTCAGAGCTAGACAATCCACTTTCAGCCTGGCTCAGGGTTTTTGCCCCTGCCAGAGAAGGCATTTAAGACAGTAGAGGCAG... | pathogenic | 231,275 |
Mutation at chromosome 15, position 44572794, within SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | GTGGAGAAGGGGCCTGTCTGGAGAGGGCCGTCCCATCAGCCCTCCGAAGTCCCTGAACTTAGCAGCTGTAGCTTTGAGACAGCCCCTTGATGACATCCAAATCATTCTCTCAGTCATGGCACAATCCTCAAAGACAATCATGTAGTGACTGTTTCCCCAAAAGGCCCCCAAAATGAGAACACAGCACCCTCGCCTTCTAAACATGGAGAAACTTTCTGCAGACAAACTGATGGAGTTCCTGCCAACATGAATCCAAGGGCATTCTCTGCTTGTATCCCAGCAAAAGGTCTCAGGGCCTAATCAAGTGCCATTTGGTGTTC... | GTGGAGAAGGGGCCTGTCTGGAGAGGGCCGTCCCATCAGCCCTCCGAAGTCCCTGAACTTAGCAGCTGTAGCTTTGAGACAGCCCCTTGATGACATCCAAATCATTCTCTCAGTCATGGCACAATCCTCAAAGACAATCATGTAGTGACTGTTTCCCCAAAAGGCCCCCAAAATGAGAACACAGCACCCTCGCCTTCTAAACATGGAGAAACTTTCTGCAGACAAACTGATGGAGTTCCTGCCAACATGAATCCAAGGGCATTCTCTGCTTGTATCCCAGCAAAAGGTCTCAGGGCCTAATCAAGTGCCATTTGGTGTTC... | pathogenic | 231,283 |
Variant at chromosome position 44574915, chromosome 15, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11', 'SPG11-related_spastic_paraplegia'] | GCCCACTCTGCCCAGGCTTAGGCACCAGGAGGTAATGCTTATGGAGCTCTGCAGCTCTCCGCTTGCTGAGCTTGAAACCCTTGGCCTATTGGTCATTTTATAGGACAGGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGGGTGATCTTGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCAACACGCCCGGCTACTTTTTTGTATTTTTAGTAGAGGCGGGTTTCACT... | GCCCACTCTGCCCAGGCTTAGGCACCAGGAGGTAATGCTTATGGAGCTCTGCAGCTCTCCGCTTGCTGAGCTTGAAACCCTTGGCCTATTGGTCATTTTATAGGACAGGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGGGTGATCTTGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCAACACGCCCGGCTACTTTTTTGTATTTTTAGTAGAGGCGGGTTTCACT... | pathogenic | 231,290 |
Mutation at chromosome 15, position 44574921, within SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11'] | TCTGCCCAGGCTTAGGCACCAGGAGGTAATGCTTATGGAGCTCTGCAGCTCTCCGCTTGCTGAGCTTGAAACCCTTGGCCTATTGGTCATTTTATAGGACAGGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGGGTGATCTTGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCAACACGCCCGGCTACTTTTTTGTATTTTTAGTAGAGGCGGGTTTCACTGTGTTA... | TCTGCCCAGGCTTAGGCACCAGGAGGTAATGCTTATGGAGCTCTGCAGCTCTCCGCTTGCTGAGCTTGAAACCCTTGGCCTATTGGTCATTTTATAGGACAGGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGGGTGATCTTGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCAACACGCCCGGCTACTTTTTTGTATTTTTAGTAGAGGCGGGTTTCACTGTGTTA... | pathogenic | 231,291 |
Variant at chromosome 15, position 44574935, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | GGCACCAGGAGGTAATGCTTATGGAGCTCTGCAGCTCTCCGCTTGCTGAGCTTGAAACCCTTGGCCTATTGGTCATTTTATAGGACAGGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGGGTGATCTTGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCAACACGCCCGGCTACTTTTTTGTATTTTTAGTAGAGGCGGGTTTCACTGTGTTAGCCAGGATGGTCTC... | GGCACCAGGAGGTAATGCTTATGGAGCTCTGCAGCTCTCCGCTTGCTGAGCTTGAAACCCTTGGCCTATTGGTCATTTTATAGGACAGGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGGGTGATCTTGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCAACACGCCCGGCTACTTTTTTGTATTTTTAGTAGAGGCGGGTTTCACTGTGTTAGCCAGGATGGTCTC... | pathogenic | 231,293 |
The chromosome 15, position 44574973 genetic variant in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11'] | CCGCTTGCTGAGCTTGAAACCCTTGGCCTATTGGTCATTTTATAGGACAGGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGGGTGATCTTGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCAACACGCCCGGCTACTTTTTTGTATTTTTAGTAGAGGCGGGTTTCACTGTGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCTCCC... | CCGCTTGCTGAGCTTGAAACCCTTGGCCTATTGGTCATTTTATAGGACAGGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGGGTGATCTTGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCAACACGCCCGGCTACTTTTTTGTATTTTTAGTAGAGGCGGGTTTCACTGTGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCTCCC... | pathogenic | 231,294 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 44583809, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): what disease(s) if pathogenic? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | TAAAGGGAGAAGAATAAAGTGACCTAAAATGGTGGTAAGATTCCTCCTACATTCCAGCTGAGGTGGTAAAATATTGATTCTAAGTATACTGTGGAAAGTTAAGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGT... | TAAAGGGAGAAGAATAAAGTGACCTAAAATGGTGGTAAGATTCCTCCTACATTCCAGCTGAGGTGGTAAAATATTGATTCTAAGTATACTGTGGAAAGTTAAGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGT... | pathogenic | 231,295 |
Benign or pathogenic: chromosome 15, position 44583815, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | GAGAAGAATAAAGTGACCTAAAATGGTGGTAAGATTCCTCCTACATTCCAGCTGAGGTGGTAAAATATTGATTCTAAGTATACTGTGGAAAGTTAAGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAA... | GAGAAGAATAAAGTGACCTAAAATGGTGGTAAGATTCCTCCTACATTCCAGCTGAGGTGGTAAAATATTGATTCTAAGTATACTGTGGAAAGTTAAGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAA... | pathogenic | 231,297 |
Determine if the mutation at chromosome 15, position 44583835 in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | AAATGGTGGTAAGATTCCTCCTACATTCCAGCTGAGGTGGTAAAATATTGATTCTAAGTATACTGTGGAAAGTTAAGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTC... | AAATGGTGGTAAGATTCCTCCTACATTCCAGCTGAGGTGGTAAAATATTGATTCTAAGTATACTGTGGAAAGTTAAGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTC... | pathogenic | 231,298 |
Variant in SPG11 (SPG11 vesicle trafficking associated, spatacsin), chromosome 15, position 44583837—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | ATGGTGGTAAGATTCCTCCTACATTCCAGCTGAGGTGGTAAAATATTGATTCTAAGTATACTGTGGAAAGTTAAGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTCCA... | ATGGTGGTAAGATTCCTCCTACATTCCAGCTGAGGTGGTAAAATATTGATTCTAAGTATACTGTGGAAAGTTAAGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTCCA... | pathogenic | 231,299 |
The mutation impacting SPG11 (SPG11 vesicle trafficking associated, spatacsin) on chromosome 15 at position 44583885: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | ATTCTAAGTATACTGTGGAAAGTTAAGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTCCAGTCTCAGATAGTTTTACTGGTAAATTCTACTAAGCATTTAAGGAAGAA... | ATTCTAAGTATACTGTGGAAAGTTAAGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTCCAGTCTCAGATAGTTTTACTGGTAAATTCTACTAAGCATTTAAGGAAGAA... | pathogenic | 231,300 |
A genetic variant on chromosome 15, position 44583898, affects the gene SPG11 (SPG11 vesicle trafficking associated, spatacsin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | TGTGGAAAGTTAAGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTCCAGTCTCAGATAGTTTTACTGGTAAATTCTACTAAGCATTTAAGGAAGAAATAACACCAGTTC... | TGTGGAAAGTTAAGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTCCAGTCTCAGATAGTTTTACTGGTAAATTCTACTAAGCATTTAAGGAAGAAATAACACCAGTTC... | pathogenic | 231,301 |
Benign or pathogenic: chromosome 15, position 44583910, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | AGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTCCAGTCTCAGATAGTTTTACTGGTAAATTCTACTAAGCATTTAAGGAAGAAATAACACCAGTTCTACACAATGTTT... | AGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTCCAGTCTCAGATAGTTTTACTGGTAAATTCTACTAAGCATTTAAGGAAGAAATAACACCAGTTCTACACAATGTTT... | pathogenic | 231,302 |
Evaluate this variant at chromosome 15, position 44583910, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | AGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTCCAGTCTCAGATAGTTTTACTGGTAAATTCTACTAAGCATTTAAGGAAGAAATAACACCAGTTCTACACAATGTTT... | AGGATGTACACTGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTCCAGTCTCAGATAGTTTTACTGGTAAATTCTACTAAGCATTTAAGGAAGAAATAACACCAGTTCTACACAATGTTT... | pathogenic | 231,303 |
Mutation at chromosome 15, position 44583921, within SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_11'] | TGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTCCAGTCTCAGATAGTTTTACTGGTAAATTCTACTAAGCATTTAAGGAAGAAATAACACCAGTTCTACACAATGTTTTCCAGAAAATA... | TGTCATCTCTAAAAAAATAAAATTAAACTATACAAAGATGCAGAGTCAAAATCACAATAAATTAAAATGGAAGACTAAAAAATGTTCAAATAACCCAAAAAGCAGAAGAAAAAGTTTCCCTTGAAAATCACAAAATGCTAAAACTCACCCAAGATAAGAAAGATAACCTGAATAGTCCTGTAATTGTTTAAGAAATTGAATTTGTGGTTTAAAATCTTCCAAAATGGAAATCTCCAGTCTCAGATAGTTTTACTGGTAAATTCTACTAAGCATTTAAGGAAGAAATAACACCAGTTCTACACAATGTTTTCCAGAAAATA... | pathogenic | 231,305 |
Is the genetic mutation found on chromosome 15 at position 44584222, within the gene SPG11 (SPG11 vesicle trafficking associated, spatacsin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | CAATGTTTTCCAGAAAATAAAAGAGGAGGGAGTACTTTCTAACTCATGAAACCAACATTACCTTGATACAAAAACCAAACAGTATAAAAAAAGGCCGGGCACGGTGGCTCAAGCCGGTAATCACAGCACTTTGGGAGACCAAGATGGGCGGATCACTTGAGGTAAGGAGTTCAAGACCAGCCTGGCCAATATAGTGGAACCCCATCTCTACTAAAAATACAAAAAGTAGCCAAGCGTGGTGGTACACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGCGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTGA... | CAATGTTTTCCAGAAAATAAAAGAGGAGGGAGTACTTTCTAACTCATGAAACCAACATTACCTTGATACAAAAACCAAACAGTATAAAAAAAGGCCGGGCACGGTGGCTCAAGCCGGTAATCACAGCACTTTGGGAGACCAAGATGGGCGGATCACTTGAGGTAAGGAGTTCAAGACCAGCCTGGCCAATATAGTGGAACCCCATCTCTACTAAAAATACAAAAAGTAGCCAAGCGTGGTGGTACACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGCGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTGA... | pathogenic | 231,312 |
Variant chromosome 15, position 44584424, gene SPG11: benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | CATCTCTACTAAAAATACAAAAAGTAGCCAAGCGTGGTGGTACACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGCGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTGATCTGAGGTTGTGCCACCACACTCTGGCCTGGGCGACAGAGGGAGACTCCATCTCAAAAACAAAAACAGTACAATAAAGAAAATTACAGAATAACATTCCTCATGAACATACATGTAAAAATCTTTAACAAAACAGCAAATTGATTCCAGCAAAAAATCAAAAAGAATAACGCACCAGGCCCAAATTGGATTTATGTAAATGG... | CATCTCTACTAAAAATACAAAAAGTAGCCAAGCGTGGTGGTACACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGCGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTGATCTGAGGTTGTGCCACCACACTCTGGCCTGGGCGACAGAGGGAGACTCCATCTCAAAAACAAAAACAGTACAATAAAGAAAATTACAGAATAACATTCCTCATGAACATACATGTAAAAATCTTTAACAAAACAGCAAATTGATTCCAGCAAAAAATCAAAAAGAATAACGCACCAGGCCCAAATTGGATTTATGTAAATGG... | pathogenic | 231,316 |
A genetic variant at chromosome 15, position 44584480, affecting gene SPG11 (SPG11 vesicle trafficking associated, spatacsin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | CAGCTATTCGGGAGGCTGAGGCAGGCGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTGATCTGAGGTTGTGCCACCACACTCTGGCCTGGGCGACAGAGGGAGACTCCATCTCAAAAACAAAAACAGTACAATAAAGAAAATTACAGAATAACATTCCTCATGAACATACATGTAAAAATCTTTAACAAAACAGCAAATTGATTCCAGCAAAAAATCAAAAAGAATAACGCACCAGGCCCAAATTGGATTTATGTAAATGGGGAATTCAAGGCTGGTCCAATATTAAAAAATCAACTAATGTAATCTACTATATTAA... | CAGCTATTCGGGAGGCTGAGGCAGGCGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTGATCTGAGGTTGTGCCACCACACTCTGGCCTGGGCGACAGAGGGAGACTCCATCTCAAAAACAAAAACAGTACAATAAAGAAAATTACAGAATAACATTCCTCATGAACATACATGTAAAAATCTTTAACAAAACAGCAAATTGATTCCAGCAAAAAATCAAAAAGAATAACGCACCAGGCCCAAATTGGATTTATGTAAATGGGGAATTCAAGGCTGGTCCAATATTAAAAAATCAACTAATGTAATCTACTATATTAA... | pathogenic | 231,317 |
Evaluate the clinical significance of the mutation at chromosome 15, position 44584504 in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Abnormal_brain_morphology', 'Hereditary_spastic_paraplegia_11'] | GCGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTGATCTGAGGTTGTGCCACCACACTCTGGCCTGGGCGACAGAGGGAGACTCCATCTCAAAAACAAAAACAGTACAATAAAGAAAATTACAGAATAACATTCCTCATGAACATACATGTAAAAATCTTTAACAAAACAGCAAATTGATTCCAGCAAAAAATCAAAAAGAATAACGCACCAGGCCCAAATTGGATTTATGTAAATGGGGAATTCAAGGCTGGTCCAATATTAAAAAATCAACTAATGTAATCTACTATATTAATAGTCTAACGAAAAAAAAAACCAC... | GCGAATCACTTGAACCTGAAAGGCAGAGGTTGCAGTGATCTGAGGTTGTGCCACCACACTCTGGCCTGGGCGACAGAGGGAGACTCCATCTCAAAAACAAAAACAGTACAATAAAGAAAATTACAGAATAACATTCCTCATGAACATACATGTAAAAATCTTTAACAAAACAGCAAATTGATTCCAGCAAAAAATCAAAAAGAATAACGCACCAGGCCCAAATTGGATTTATGTAAATGGGGAATTCAAGGCTGGTCCAATATTAAAAAATCAACTAATGTAATCTACTATATTAATAGTCTAACGAAAAAAAAAACCAC... | pathogenic | 231,318 |
Located at chromosome 15 position 44584531, the variant affecting gene SPG11 (SPG11 vesicle trafficking associated, spatacsin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | GGTTGCAGTGATCTGAGGTTGTGCCACCACACTCTGGCCTGGGCGACAGAGGGAGACTCCATCTCAAAAACAAAAACAGTACAATAAAGAAAATTACAGAATAACATTCCTCATGAACATACATGTAAAAATCTTTAACAAAACAGCAAATTGATTCCAGCAAAAAATCAAAAAGAATAACGCACCAGGCCCAAATTGGATTTATGTAAATGGGGAATTCAAGGCTGGTCCAATATTAAAAAATCAACTAATGTAATCTACTATATTAATAGTCTAACGAAAAAAAAAACCACATGATCAGATTAACAGATACAGCAATA... | GGTTGCAGTGATCTGAGGTTGTGCCACCACACTCTGGCCTGGGCGACAGAGGGAGACTCCATCTCAAAAACAAAAACAGTACAATAAAGAAAATTACAGAATAACATTCCTCATGAACATACATGTAAAAATCTTTAACAAAACAGCAAATTGATTCCAGCAAAAAATCAAAAAGAATAACGCACCAGGCCCAAATTGGATTTATGTAAATGGGGAATTCAAGGCTGGTCCAATATTAAAAAATCAACTAATGTAATCTACTATATTAATAGTCTAACGAAAAAAAAAACCACATGATCAGATTAACAGATACAGCAATA... | pathogenic | 231,320 |
Gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) variant at chromosome 15, position 44585641—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | ATCAGATAGATTCCCTTTAACTTTGAAACATAGCTAGTTTAAAAGACATAGATCTTTCTATTTCATTGCCTAGTTAATTGGCTAGTCTACAGATTACCTGGAAAAAAGTTGTTGTCCCCTTAACTTGGTAGAACTATTCTGCCACAAGGGTCCCTTCCTTCTTGGAGACAGTGCTAACAGTGCCATTTAAGACTCTGGGCCATCTGATCTCCTTCACTTACTGCTGTGGACTCTCCTTAGGGGAATGTCGGGTGCTTCTTCCTCAAGCAGCTCAGCACTTTGTAGGAGAGCATGGATCTCTGGGTGCAGATCCTCCATAC... | ATCAGATAGATTCCCTTTAACTTTGAAACATAGCTAGTTTAAAAGACATAGATCTTTCTATTTCATTGCCTAGTTAATTGGCTAGTCTACAGATTACCTGGAAAAAAGTTGTTGTCCCCTTAACTTGGTAGAACTATTCTGCCACAAGGGTCCCTTCCTTCTTGGAGACAGTGCTAACAGTGCCATTTAAGACTCTGGGCCATCTGATCTCCTTCACTTACTGCTGTGGACTCTCCTTAGGGGAATGTCGGGTGCTTCTTCCTCAAGCAGCTCAGCACTTTGTAGGAGAGCATGGATCTCTGGGTGCAGATCCTCCATAC... | pathogenic | 231,322 |
The chromosome 15, position 44589279 genetic variant in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11'] | CAAACAGTCTAAGTAGAGTCTATGTGTGTCCTACCATAAGAGAGGGGCATGAGAAACATTCCACAGGAGGTTATTTCCAGTGCCACCTGCTGGGCAGCAGTCTGATTCAGGTAGTTCTGGGGACAGTAAGACACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGT... | CAAACAGTCTAAGTAGAGTCTATGTGTGTCCTACCATAAGAGAGGGGCATGAGAAACATTCCACAGGAGGTTATTTCCAGTGCCACCTGCTGGGCAGCAGTCTGATTCAGGTAGTTCTGGGGACAGTAAGACACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGT... | pathogenic | 231,331 |
Evaluate if the mutation on chromosome 15 at position 44589286 in SPG11 (SPG11 vesicle trafficking associated, spatacsin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | TCTAAGTAGAGTCTATGTGTGTCCTACCATAAGAGAGGGGCATGAGAAACATTCCACAGGAGGTTATTTCCAGTGCCACCTGCTGGGCAGCAGTCTGATTCAGGTAGTTCTGGGGACAGTAAGACACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGTGTGGTGG... | TCTAAGTAGAGTCTATGTGTGTCCTACCATAAGAGAGGGGCATGAGAAACATTCCACAGGAGGTTATTTCCAGTGCCACCTGCTGGGCAGCAGTCTGATTCAGGTAGTTCTGGGGACAGTAAGACACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGTGTGGTGG... | pathogenic | 231,332 |
Does the chromosome 15 mutation at position 44589297 within gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11'] | TCTATGTGTGTCCTACCATAAGAGAGGGGCATGAGAAACATTCCACAGGAGGTTATTTCCAGTGCCACCTGCTGGGCAGCAGTCTGATTCAGGTAGTTCTGGGGACAGTAAGACACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGTGTGGTGGTGTGTGCCTGT... | TCTATGTGTGTCCTACCATAAGAGAGGGGCATGAGAAACATTCCACAGGAGGTTATTTCCAGTGCCACCTGCTGGGCAGCAGTCTGATTCAGGTAGTTCTGGGGACAGTAAGACACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGTGTGGTGGTGTGTGCCTGT... | pathogenic | 231,333 |
Does the variant on chromosome 15 at location 44589327 affecting gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | ATGAGAAACATTCCACAGGAGGTTATTTCCAGTGCCACCTGCTGGGCAGCAGTCTGATTCAGGTAGTTCTGGGGACAGTAAGACACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGTGTGGTGGTGTGTGCCTGTAATTCCAGCTATTCAGGAGGTTGAGGTGGG... | ATGAGAAACATTCCACAGGAGGTTATTTCCAGTGCCACCTGCTGGGCAGCAGTCTGATTCAGGTAGTTCTGGGGACAGTAAGACACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGTGTGGTGGTGTGTGCCTGTAATTCCAGCTATTCAGGAGGTTGAGGTGGG... | pathogenic | 231,334 |
A mutation at chromosome position 44589380 on chromosome 15 in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | CTGATTCAGGTAGTTCTGGGGACAGTAAGACACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGTGTGGTGGTGTGTGCCTGTAATTCCAGCTATTCAGGAGGTTGAGGTGGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTTGCAGTGAGCTGAGAACG... | CTGATTCAGGTAGTTCTGGGGACAGTAAGACACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGTGTGGTGGTGTGTGCCTGTAATTCCAGCTATTCAGGAGGTTGAGGTGGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTTGCAGTGAGCTGAGAACG... | pathogenic | 231,337 |
Is the genetic change at chromosome 15, position 44589384, within gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11'] | TTCAGGTAGTTCTGGGGACAGTAAGACACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGTGTGGTGGTGTGTGCCTGTAATTCCAGCTATTCAGGAGGTTGAGGTGGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTTGCAGTGAGCTGAGAACGTGCC... | TTCAGGTAGTTCTGGGGACAGTAAGACACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGTGTGGTGGTGTGTGCCTGTAATTCCAGCTATTCAGGAGGTTGAGGTGGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTTGCAGTGAGCTGAGAACGTGCC... | pathogenic | 231,338 |
Variant on chromosome 15, at position 44589411, affecting SPG11 (SPG11 vesicle trafficking associated, spatacsin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | ACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGTGTGGTGGTGTGTGCCTGTAATTCCAGCTATTCAGGAGGTTGAGGTGGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTTGCAGTGAGCTGAGAACGTGCCACTGCACTCCAGCTTGGGCAACAGAGC... | ACCCTGCACAATCATATAAAACACGTTTTTACAGAACATATTCCTGGCTGGGCACAGTGGTTCATGCTTGTAATCCCAGCACCATGGGAGGCCAAGGCGGGAGGAGTGCTTGAGCTCAGGAGCTTGGGACTAGCTGGGCAACGTGGCAAAACCCTATTTCTAATAAAAGATACAAAAATTAGCCAGGTGTGGTGGTGTGTGCCTGTAATTCCAGCTATTCAGGAGGTTGAGGTGGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTTGCAGTGAGCTGAGAACGTGCCACTGCACTCCAGCTTGGGCAACAGAGC... | pathogenic | 231,339 |
Clinically, how would you classify the variant at chromosome 15, position 44595400, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | CAACTAGTTTTTGTATTTTTTGTAGAGACGGGGTTCACTGTGTTGCCAGGCTGGTCTTGAACTCTTGGACTCAAGTGATCCATCCGCCTAGGCTTCCCAAAGGGCTGGCATTACAAGTGTGCGCTAGCATGCCCAGGCATAACATTTTAAACACACACACCTGGATAATCTGCTCTACTGATCCACCTTACCTACTGTTGCCTGTGGCACTGATTCATACATTTTATTGTTGTCAGTGGGAGTCGCTCAGTCAGATAATAGGAGTTCTGAATTAGAAAGTATGGCTCTGAACTGTAAATACACCACTTACTGAAGTATTT... | CAACTAGTTTTTGTATTTTTTGTAGAGACGGGGTTCACTGTGTTGCCAGGCTGGTCTTGAACTCTTGGACTCAAGTGATCCATCCGCCTAGGCTTCCCAAAGGGCTGGCATTACAAGTGTGCGCTAGCATGCCCAGGCATAACATTTTAAACACACACACCTGGATAATCTGCTCTACTGATCCACCTTACCTACTGTTGCCTGTGGCACTGATTCATACATTTTATTGTTGTCAGTGGGAGTCGCTCAGTCAGATAATAGGAGTTCTGAATTAGAAAGTATGGCTCTGAACTGTAAATACACCACTTACTGAAGTATTT... | pathogenic | 231,344 |
Clinically, how would you classify the variant at chromosome 15, position 44595430, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | GGGTTCACTGTGTTGCCAGGCTGGTCTTGAACTCTTGGACTCAAGTGATCCATCCGCCTAGGCTTCCCAAAGGGCTGGCATTACAAGTGTGCGCTAGCATGCCCAGGCATAACATTTTAAACACACACACCTGGATAATCTGCTCTACTGATCCACCTTACCTACTGTTGCCTGTGGCACTGATTCATACATTTTATTGTTGTCAGTGGGAGTCGCTCAGTCAGATAATAGGAGTTCTGAATTAGAAAGTATGGCTCTGAACTGTAAATACACCACTTACTGAAGTATTTTGAGACCTTGGATAAGTTACTTAAGTTTTG... | GGGTTCACTGTGTTGCCAGGCTGGTCTTGAACTCTTGGACTCAAGTGATCCATCCGCCTAGGCTTCCCAAAGGGCTGGCATTACAAGTGTGCGCTAGCATGCCCAGGCATAACATTTTAAACACACACACCTGGATAATCTGCTCTACTGATCCACCTTACCTACTGTTGCCTGTGGCACTGATTCATACATTTTATTGTTGTCAGTGGGAGTCGCTCAGTCAGATAATAGGAGTTCTGAATTAGAAAGTATGGCTCTGAACTGTAAATACACCACTTACTGAAGTATTTTGAGACCTTGGATAAGTTACTTAAGTTTTG... | pathogenic | 231,345 |
Is the variant located on chromosome 15 at position 44596208, gene SPG11, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | TCACGCCTGTAAATCCCAGCGCTTTGGGAGGCCGAGGTGGGAGGATCACGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCACGCGCCTGTAGTCCAAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCGAGACTCTGTCTCAAAACAAAAACAAAAACAAAAAACAAAAAACCACCCTGGGCCAGGTGTGGTGAC... | TCACGCCTGTAAATCCCAGCGCTTTGGGAGGCCGAGGTGGGAGGATCACGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCACGCGCCTGTAGTCCAAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCGAGACTCTGTCTCAAAACAAAAACAAAAACAAAAAACAAAAAACCACCCTGGGCCAGGTGTGGTGAC... | pathogenic | 231,349 |
Is the chromosome 15, position 44596835 variant in SPG11 (SPG11 vesicle trafficking associated, spatacsin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | AAATACGACTTTGCTAAGTAAATGGTACTTTTGTTGTTGTTGTTGTTTTTGAGACAGTCTTGCCCTGTCATCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCCACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGAACAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACT... | AAATACGACTTTGCTAAGTAAATGGTACTTTTGTTGTTGTTGTTGTTTTTGAGACAGTCTTGCCCTGTCATCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCCACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGAACAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACT... | pathogenic | 231,353 |
Benign or pathogenic: chromosome 15, position 44596869, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | TGTTGTTGTTGTTTTTGAGACAGTCTTGCCCTGTCATCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCCACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGAACAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAGTAAGTGGTACTTCTAATATTAT... | TGTTGTTGTTGTTTTTGAGACAGTCTTGCCCTGTCATCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCCACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGAACAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAGTAAGTGGTACTTCTAATATTAT... | pathogenic | 231,354 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 44598781, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | AAGAAGTGTTCCTATTTCCTTTTGAGTGACTGCTAACAATTAGTGGCTTACCTCTGCTGGGTGGTAGTTGTGGAGTTGGCTGTGAATAATGAACTGCAGCCAATCATTTGCTTTGGCACATTCTCTAAGGTAAGATATGCTTAGTTTCATATTGTGTAGCCTGCAGAACTGCACCACTAATGCCCATTGGCTGCTAGATTCACTGGATAACCTATAATCAGAATTAGAGGTGGGGGTGGTCAAGAAAAAACAAAAAACTCATTAAAATATAGCTTTAGCTTGAACTGGAAAATGAGTAAAAATGATATAAATTAAAGCAC... | AAGAAGTGTTCCTATTTCCTTTTGAGTGACTGCTAACAATTAGTGGCTTACCTCTGCTGGGTGGTAGTTGTGGAGTTGGCTGTGAATAATGAACTGCAGCCAATCATTTGCTTTGGCACATTCTCTAAGGTAAGATATGCTTAGTTTCATATTGTGTAGCCTGCAGAACTGCACCACTAATGCCCATTGGCTGCTAGATTCACTGGATAACCTATAATCAGAATTAGAGGTGGGGGTGGTCAAGAAAAAACAAAAAACTCATTAAAATATAGCTTTAGCTTGAACTGGAAAATGAGTAAAAATGATATAAATTAAAGCAC... | pathogenic | 231,359 |
Chromosome 15, position 44598811, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11'] | TGCTAACAATTAGTGGCTTACCTCTGCTGGGTGGTAGTTGTGGAGTTGGCTGTGAATAATGAACTGCAGCCAATCATTTGCTTTGGCACATTCTCTAAGGTAAGATATGCTTAGTTTCATATTGTGTAGCCTGCAGAACTGCACCACTAATGCCCATTGGCTGCTAGATTCACTGGATAACCTATAATCAGAATTAGAGGTGGGGGTGGTCAAGAAAAAACAAAAAACTCATTAAAATATAGCTTTAGCTTGAACTGGAAAATGAGTAAAAATGATATAAATTAAAGCACAGTGTATTCTCCAACAAATACTAAATATTT... | TGCTAACAATTAGTGGCTTACCTCTGCTGGGTGGTAGTTGTGGAGTTGGCTGTGAATAATGAACTGCAGCCAATCATTTGCTTTGGCACATTCTCTAAGGTAAGATATGCTTAGTTTCATATTGTGTAGCCTGCAGAACTGCACCACTAATGCCCATTGGCTGCTAGATTCACTGGATAACCTATAATCAGAATTAGAGGTGGGGGTGGTCAAGAAAAAACAAAAAACTCATTAAAATATAGCTTTAGCTTGAACTGGAAAATGAGTAAAAATGATATAAATTAAAGCACAGTGTATTCTCCAACAAATACTAAATATTT... | pathogenic | 231,360 |
Is the variant located on chromosome 15 at position 44598835, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Abnormal_central_motor_function', 'Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | TGCTGGGTGGTAGTTGTGGAGTTGGCTGTGAATAATGAACTGCAGCCAATCATTTGCTTTGGCACATTCTCTAAGGTAAGATATGCTTAGTTTCATATTGTGTAGCCTGCAGAACTGCACCACTAATGCCCATTGGCTGCTAGATTCACTGGATAACCTATAATCAGAATTAGAGGTGGGGGTGGTCAAGAAAAAACAAAAAACTCATTAAAATATAGCTTTAGCTTGAACTGGAAAATGAGTAAAAATGATATAAATTAAAGCACAGTGTATTCTCCAACAAATACTAAATATTTATTAGGCTACTTTGAAAAAAGTAG... | TGCTGGGTGGTAGTTGTGGAGTTGGCTGTGAATAATGAACTGCAGCCAATCATTTGCTTTGGCACATTCTCTAAGGTAAGATATGCTTAGTTTCATATTGTGTAGCCTGCAGAACTGCACCACTAATGCCCATTGGCTGCTAGATTCACTGGATAACCTATAATCAGAATTAGAGGTGGGGGTGGTCAAGAAAAAACAAAAAACTCATTAAAATATAGCTTTAGCTTGAACTGGAAAATGAGTAAAAATGATATAAATTAAAGCACAGTGTATTCTCCAACAAATACTAAATATTTATTAGGCTACTTTGAAAAAAGTAG... | pathogenic | 231,361 |
Evaluate this variant at chromosome 15, position 44600487, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11'] | GAATAGTGTGGCTCAGGGCCATTTCAGAACCCAATTAAAGTGCCCAAGAAAGTGAGACAAAGAACACACACTCTGCAGGAAAAGGATAAAACCAAGAAGATAACCATTTTCTCCCCAAACACTCACAATTCAATGCCTTAGACCTCGTCACACCTTCTCTAAACAAAGCAGGCCAGATAAAAGGTGCTGTACCTACAGACTCTCTGATAAAGCTGTACTGAGCATCTTCATTTCTGCACTTGTAGCTCAAAATTATATTGGCCACTTTCATATCAACTCTGAGCTTGAGGCTGTCAAGGCCAAGCAATTCTAAGAAACAA... | GAATAGTGTGGCTCAGGGCCATTTCAGAACCCAATTAAAGTGCCCAAGAAAGTGAGACAAAGAACACACACTCTGCAGGAAAAGGATAAAACCAAGAAGATAACCATTTTCTCCCCAAACACTCACAATTCAATGCCTTAGACCTCGTCACACCTTCTCTAAACAAAGCAGGCCAGATAAAAGGTGCTGTACCTACAGACTCTCTGATAAAGCTGTACTGAGCATCTTCATTTCTGCACTTGTAGCTCAAAATTATATTGGCCACTTTCATATCAACTCTGAGCTTGAGGCTGTCAAGGCCAAGCAATTCTAAGAAACAA... | pathogenic | 231,363 |
The genetic variant at chromosome 15, position 44600488, affecting gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases', 'Spastic_paraplegia'] | AATAGTGTGGCTCAGGGCCATTTCAGAACCCAATTAAAGTGCCCAAGAAAGTGAGACAAAGAACACACACTCTGCAGGAAAAGGATAAAACCAAGAAGATAACCATTTTCTCCCCAAACACTCACAATTCAATGCCTTAGACCTCGTCACACCTTCTCTAAACAAAGCAGGCCAGATAAAAGGTGCTGTACCTACAGACTCTCTGATAAAGCTGTACTGAGCATCTTCATTTCTGCACTTGTAGCTCAAAATTATATTGGCCACTTTCATATCAACTCTGAGCTTGAGGCTGTCAAGGCCAAGCAATTCTAAGAAACAAA... | AATAGTGTGGCTCAGGGCCATTTCAGAACCCAATTAAAGTGCCCAAGAAAGTGAGACAAAGAACACACACTCTGCAGGAAAAGGATAAAACCAAGAAGATAACCATTTTCTCCCCAAACACTCACAATTCAATGCCTTAGACCTCGTCACACCTTCTCTAAACAAAGCAGGCCAGATAAAAGGTGCTGTACCTACAGACTCTCTGATAAAGCTGTACTGAGCATCTTCATTTCTGCACTTGTAGCTCAAAATTATATTGGCCACTTTCATATCAACTCTGAGCTTGAGGCTGTCAAGGCCAAGCAATTCTAAGAAACAAA... | pathogenic | 231,364 |
Does the variant on chromosome 15 at location 44608572 affecting gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | GGTTGAAGGAATGTGATGAGCAACAACATGAACAACAAAGAAAAAATAGCGGACCAAGGTGAAGTCAATCAGAAAAGATCTGGCAGCAGCAAGTAGTGGTTGTTTGGAATTTTTCTAGGCCAAATGTTTAGCAAAGTCTATAAACGGATCGTGGGAAAAATACAGGAAAAAAACAGAACAAAAAAAGTCAGGATTTGGATGGCCCAAAATAGAGTAGCTTTGATGTAAAACTAAGGAAGATTTTGTGATCTATTAAAGAAGGAATACTTTTCCTAAAATAACCACTAAAAAAATTAAATCAGTCCACTTGAAAACAGAAC... | GGTTGAAGGAATGTGATGAGCAACAACATGAACAACAAAGAAAAAATAGCGGACCAAGGTGAAGTCAATCAGAAAAGATCTGGCAGCAGCAAGTAGTGGTTGTTTGGAATTTTTCTAGGCCAAATGTTTAGCAAAGTCTATAAACGGATCGTGGGAAAAATACAGGAAAAAAACAGAACAAAAAAAGTCAGGATTTGGATGGCCCAAAATAGAGTAGCTTTGATGTAAAACTAAGGAAGATTTTGTGATCTATTAAAGAAGGAATACTTTTCCTAAAATAACCACTAAAAAAATTAAATCAGTCCACTTGAAAACAGAAC... | pathogenic | 231,369 |
Is chromosome 15, position 44608575, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | TGAAGGAATGTGATGAGCAACAACATGAACAACAAAGAAAAAATAGCGGACCAAGGTGAAGTCAATCAGAAAAGATCTGGCAGCAGCAAGTAGTGGTTGTTTGGAATTTTTCTAGGCCAAATGTTTAGCAAAGTCTATAAACGGATCGTGGGAAAAATACAGGAAAAAAACAGAACAAAAAAAGTCAGGATTTGGATGGCCCAAAATAGAGTAGCTTTGATGTAAAACTAAGGAAGATTTTGTGATCTATTAAAGAAGGAATACTTTTCCTAAAATAACCACTAAAAAAATTAAATCAGTCCACTTGAAAACAGAACAAA... | TGAAGGAATGTGATGAGCAACAACATGAACAACAAAGAAAAAATAGCGGACCAAGGTGAAGTCAATCAGAAAAGATCTGGCAGCAGCAAGTAGTGGTTGTTTGGAATTTTTCTAGGCCAAATGTTTAGCAAAGTCTATAAACGGATCGTGGGAAAAATACAGGAAAAAAACAGAACAAAAAAAGTCAGGATTTGGATGGCCCAAAATAGAGTAGCTTTGATGTAAAACTAAGGAAGATTTTGTGATCTATTAAAGAAGGAATACTTTTCCTAAAATAACCACTAAAAAAATTAAATCAGTCCACTTGAAAACAGAACAAA... | pathogenic | 231,370 |
Clinical significance of chromosome 15, position 44608585, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia_11'] | TGATGAGCAACAACATGAACAACAAAGAAAAAATAGCGGACCAAGGTGAAGTCAATCAGAAAAGATCTGGCAGCAGCAAGTAGTGGTTGTTTGGAATTTTTCTAGGCCAAATGTTTAGCAAAGTCTATAAACGGATCGTGGGAAAAATACAGGAAAAAAACAGAACAAAAAAAGTCAGGATTTGGATGGCCCAAAATAGAGTAGCTTTGATGTAAAACTAAGGAAGATTTTGTGATCTATTAAAGAAGGAATACTTTTCCTAAAATAACCACTAAAAAAATTAAATCAGTCCACTTGAAAACAGAACAAAGAGCAACATG... | TGATGAGCAACAACATGAACAACAAAGAAAAAATAGCGGACCAAGGTGAAGTCAATCAGAAAAGATCTGGCAGCAGCAAGTAGTGGTTGTTTGGAATTTTTCTAGGCCAAATGTTTAGCAAAGTCTATAAACGGATCGTGGGAAAAATACAGGAAAAAAACAGAACAAAAAAAGTCAGGATTTGGATGGCCCAAAATAGAGTAGCTTTGATGTAAAACTAAGGAAGATTTTGTGATCTATTAAAGAAGGAATACTTTTCCTAAAATAACCACTAAAAAAATTAAATCAGTCCACTTGAAAACAGAACAAAGAGCAACATG... | pathogenic | 231,371 |
Considering the variant on chromosome 15, location 44608610, involving gene SPG11 (SPG11 vesicle trafficking associated, spatacsin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AGAAAAAATAGCGGACCAAGGTGAAGTCAATCAGAAAAGATCTGGCAGCAGCAAGTAGTGGTTGTTTGGAATTTTTCTAGGCCAAATGTTTAGCAAAGTCTATAAACGGATCGTGGGAAAAATACAGGAAAAAAACAGAACAAAAAAAGTCAGGATTTGGATGGCCCAAAATAGAGTAGCTTTGATGTAAAACTAAGGAAGATTTTGTGATCTATTAAAGAAGGAATACTTTTCCTAAAATAACCACTAAAAAAATTAAATCAGTCCACTTGAAAACAGAACAAAGAGCAACATGAAACCACTTGTGTTTCAAGCTGATC... | AGAAAAAATAGCGGACCAAGGTGAAGTCAATCAGAAAAGATCTGGCAGCAGCAAGTAGTGGTTGTTTGGAATTTTTCTAGGCCAAATGTTTAGCAAAGTCTATAAACGGATCGTGGGAAAAATACAGGAAAAAAACAGAACAAAAAAAGTCAGGATTTGGATGGCCCAAAATAGAGTAGCTTTGATGTAAAACTAAGGAAGATTTTGTGATCTATTAAAGAAGGAATACTTTTCCTAAAATAACCACTAAAAAAATTAAATCAGTCCACTTGAAAACAGAACAAAGAGCAACATGAAACCACTTGTGTTTCAAGCTGATC... | benign | 231,372 |
Clinical significance of chromosome 15, position 44610917, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | CAAGCTGTATGTAAAGAAATTGTTTGAAAAACAGCTCTGCCAATATTTAATTCAATAATATATATTTTAAAATATTTACAAACTGATAAACTAGATGACTTCTTACCCAACTCTAAAGTTATTCTATGACTGTAATTTCTGACAGATGATTAAAAATAGAGGATTAAATAGTCGTGTTTTAAGGTATACTGCAACAATCTAAAAAAGGTGGTACTAAGTTAAGCTAGCACCATTAAGAAACTTTTGAAGATTAGATATTAAACAACATTCTTTTTTTTTTGAGACGGAGTCTCACTCTGTGGGCCCAGGCTGGAGTGCAA... | CAAGCTGTATGTAAAGAAATTGTTTGAAAAACAGCTCTGCCAATATTTAATTCAATAATATATATTTTAAAATATTTACAAACTGATAAACTAGATGACTTCTTACCCAACTCTAAAGTTATTCTATGACTGTAATTTCTGACAGATGATTAAAAATAGAGGATTAAATAGTCGTGTTTTAAGGTATACTGCAACAATCTAAAAAAGGTGGTACTAAGTTAAGCTAGCACCATTAAGAAACTTTTGAAGATTAGATATTAAACAACATTCTTTTTTTTTTGAGACGGAGTCTCACTCTGTGGGCCCAGGCTGGAGTGCAA... | pathogenic | 231,376 |
Does the chromosome 15 mutation at position 44610955 within gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | GCCAATATTTAATTCAATAATATATATTTTAAAATATTTACAAACTGATAAACTAGATGACTTCTTACCCAACTCTAAAGTTATTCTATGACTGTAATTTCTGACAGATGATTAAAAATAGAGGATTAAATAGTCGTGTTTTAAGGTATACTGCAACAATCTAAAAAAGGTGGTACTAAGTTAAGCTAGCACCATTAAGAAACTTTTGAAGATTAGATATTAAACAACATTCTTTTTTTTTTGAGACGGAGTCTCACTCTGTGGGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG... | GCCAATATTTAATTCAATAATATATATTTTAAAATATTTACAAACTGATAAACTAGATGACTTCTTACCCAACTCTAAAGTTATTCTATGACTGTAATTTCTGACAGATGATTAAAAATAGAGGATTAAATAGTCGTGTTTTAAGGTATACTGCAACAATCTAAAAAAGGTGGTACTAAGTTAAGCTAGCACCATTAAGAAACTTTTGAAGATTAGATATTAAACAACATTCTTTTTTTTTTGAGACGGAGTCTCACTCTGTGGGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG... | pathogenic | 231,377 |
Is the chromosome 15, position 44613497 variant in SPG11 (SPG11 vesicle trafficking associated, spatacsin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | CTATCCAATTAGCAGTAATTTAAAAAAACTCATCATCAAGCATTAGAGCTGGTCACAGTGAGTAGAGACTAGGACTTAAAATAAAATTGTACAACTCCCTTGGAAAGCAATCCGGTCCTACAGCAAGAACCTTAAACATGTGTAACCTTTGACCCAATAGTTTTATATCCCAAAACCTATCTGTGCTAAGAAAATAATCTGAAATAAGGACAGTTTTATATTGAAATATATTCAAGACTATTATTTATAATAGAAAAAAATGGAAAATGCCCTCATTGTCGGAAAATGAGAGAACAGAAAATTAAATAATGGTATATCCA... | CTATCCAATTAGCAGTAATTTAAAAAAACTCATCATCAAGCATTAGAGCTGGTCACAGTGAGTAGAGACTAGGACTTAAAATAAAATTGTACAACTCCCTTGGAAAGCAATCCGGTCCTACAGCAAGAACCTTAAACATGTGTAACCTTTGACCCAATAGTTTTATATCCCAAAACCTATCTGTGCTAAGAAAATAATCTGAAATAAGGACAGTTTTATATTGAAATATATTCAAGACTATTATTTATAATAGAAAAAAATGGAAAATGCCCTCATTGTCGGAAAATGAGAGAACAGAAAATTAAATAATGGTATATCCA... | pathogenic | 231,379 |
Is the genetic mutation found on chromosome 15 at position 44613499, within the gene SPG11 (SPG11 vesicle trafficking associated, spatacsin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Abnormal_central_motor_function', 'Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11', 'SPG11-related_disorder'] | ATCCAATTAGCAGTAATTTAAAAAAACTCATCATCAAGCATTAGAGCTGGTCACAGTGAGTAGAGACTAGGACTTAAAATAAAATTGTACAACTCCCTTGGAAAGCAATCCGGTCCTACAGCAAGAACCTTAAACATGTGTAACCTTTGACCCAATAGTTTTATATCCCAAAACCTATCTGTGCTAAGAAAATAATCTGAAATAAGGACAGTTTTATATTGAAATATATTCAAGACTATTATTTATAATAGAAAAAAATGGAAAATGCCCTCATTGTCGGAAAATGAGAGAACAGAAAATTAAATAATGGTATATCCATA... | ATCCAATTAGCAGTAATTTAAAAAAACTCATCATCAAGCATTAGAGCTGGTCACAGTGAGTAGAGACTAGGACTTAAAATAAAATTGTACAACTCCCTTGGAAAGCAATCCGGTCCTACAGCAAGAACCTTAAACATGTGTAACCTTTGACCCAATAGTTTTATATCCCAAAACCTATCTGTGCTAAGAAAATAATCTGAAATAAGGACAGTTTTATATTGAAATATATTCAAGACTATTATTTATAATAGAAAAAAATGGAAAATGCCCTCATTGTCGGAAAATGAGAGAACAGAAAATTAAATAATGGTATATCCATA... | pathogenic | 231,380 |
Clinically, how would you classify the variant at chromosome 15, position 44615400, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_spastic_paraplegia_11'] | TTCACAAGTTTAATACCATTCAACAGACCAGTGACTGATCCAAAGCAAGTTTCTGTGTTTAATACAGTATACCCATACCTGTTAAGTTACTGGCAACTTGTCGACACTGAACTAAAAATTCAAACCAAGGGTGTGCTTCATGTAACTCTTTTTTTTCCAAAAAGGGACAATTTTCAGGACTAAGTCTGTATATAAAACAAACAAAAACCTTCTTTGATTAACATACAGGATAAGACAATTACAACCATTTTGCTCAGGCGATGATTAGCATTTAAAAAAAGAATCTTGGAATTAAAAAGTAAATATAACACAAAATACTC... | TTCACAAGTTTAATACCATTCAACAGACCAGTGACTGATCCAAAGCAAGTTTCTGTGTTTAATACAGTATACCCATACCTGTTAAGTTACTGGCAACTTGTCGACACTGAACTAAAAATTCAAACCAAGGGTGTGCTTCATGTAACTCTTTTTTTTCCAAAAAGGGACAATTTTCAGGACTAAGTCTGTATATAAAACAAACAAAAACCTTCTTTGATTAACATACAGGATAAGACAATTACAACCATTTTGCTCAGGCGATGATTAGCATTTAAAAAAAGAATCTTGGAATTAAAAAGTAAATATAACACAAAATACTC... | pathogenic | 231,385 |
Mutation found at chromosome 15 position 44615487, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_11'] | TACTGGCAACTTGTCGACACTGAACTAAAAATTCAAACCAAGGGTGTGCTTCATGTAACTCTTTTTTTTCCAAAAAGGGACAATTTTCAGGACTAAGTCTGTATATAAAACAAACAAAAACCTTCTTTGATTAACATACAGGATAAGACAATTACAACCATTTTGCTCAGGCGATGATTAGCATTTAAAAAAAGAATCTTGGAATTAAAAAGTAAATATAACACAAAATACTCCCACTCTTGTGTTGTATTTTACATATTCTTCATGATCTGGAAACAATTTTAGAGATAGAGATTTTAGAGACATCATATGTTCACTAC... | TACTGGCAACTTGTCGACACTGAACTAAAAATTCAAACCAAGGGTGTGCTTCATGTAACTCTTTTTTTTCCAAAAAGGGACAATTTTCAGGACTAAGTCTGTATATAAAACAAACAAAAACCTTCTTTGATTAACATACAGGATAAGACAATTACAACCATTTTGCTCAGGCGATGATTAGCATTTAAAAAAAGAATCTTGGAATTAAAAAGTAAATATAACACAAAATACTCCCACTCTTGTGTTGTATTTTACATATTCTTCATGATCTGGAAACAATTTTAGAGATAGAGATTTTAGAGACATCATATGTTCACTAC... | pathogenic | 231,386 |
Regarding the variant at chromosome 15 and position 44615551, affecting gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11'] | TTTTTCCAAAAAGGGACAATTTTCAGGACTAAGTCTGTATATAAAACAAACAAAAACCTTCTTTGATTAACATACAGGATAAGACAATTACAACCATTTTGCTCAGGCGATGATTAGCATTTAAAAAAAGAATCTTGGAATTAAAAAGTAAATATAACACAAAATACTCCCACTCTTGTGTTGTATTTTACATATTCTTCATGATCTGGAAACAATTTTAGAGATAGAGATTTTAGAGACATCATATGTTCACTACCATGATGAAATTTATCCAAATCTTTATCAGATTAATAGATACCTTGTACTTTAAGATACTTCAT... | TTTTTCCAAAAAGGGACAATTTTCAGGACTAAGTCTGTATATAAAACAAACAAAAACCTTCTTTGATTAACATACAGGATAAGACAATTACAACCATTTTGCTCAGGCGATGATTAGCATTTAAAAAAAGAATCTTGGAATTAAAAAGTAAATATAACACAAAATACTCCCACTCTTGTGTTGTATTTTACATATTCTTCATGATCTGGAAACAATTTTAGAGATAGAGATTTTAGAGACATCATATGTTCACTACCATGATGAAATTTATCCAAATCTTTATCAGATTAATAGATACCTTGTACTTTAAGATACTTCAT... | pathogenic | 231,389 |
Evaluate the clinical significance of the mutation at chromosome 15, position 44615551 in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | TTTTTCCAAAAAGGGACAATTTTCAGGACTAAGTCTGTATATAAAACAAACAAAAACCTTCTTTGATTAACATACAGGATAAGACAATTACAACCATTTTGCTCAGGCGATGATTAGCATTTAAAAAAAGAATCTTGGAATTAAAAAGTAAATATAACACAAAATACTCCCACTCTTGTGTTGTATTTTACATATTCTTCATGATCTGGAAACAATTTTAGAGATAGAGATTTTAGAGACATCATATGTTCACTACCATGATGAAATTTATCCAAATCTTTATCAGATTAATAGATACCTTGTACTTTAAGATACTTCAT... | TTTTTCCAAAAAGGGACAATTTTCAGGACTAAGTCTGTATATAAAACAAACAAAAACCTTCTTTGATTAACATACAGGATAAGACAATTACAACCATTTTGCTCAGGCGATGATTAGCATTTAAAAAAAGAATCTTGGAATTAAAAAGTAAATATAACACAAAATACTCCCACTCTTGTGTTGTATTTTACATATTCTTCATGATCTGGAAACAATTTTAGAGATAGAGATTTTAGAGACATCATATGTTCACTACCATGATGAAATTTATCCAAATCTTTATCAGATTAATAGATACCTTGTACTTTAAGATACTTCAT... | pathogenic | 231,390 |
Is chromosome 15, position 44620307, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11'] | AGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCAATCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAGAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATAGCGCCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG... | AGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATTGAGACCAATCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAGAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATAGCGCCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG... | pathogenic | 231,394 |
A genetic variant at chromosome 15, position 44620410, affecting gene SPG11 (SPG11 vesicle trafficking associated, spatacsin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATAGCGCCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGAACACGAGGTCAGGAGATGAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAAGAAATCAGCCGGGCG... | AAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATAGCGCCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGAACACGAGGTCAGGAGATGAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAAGAAATCAGCCGGGCG... | benign | 231,395 |
Chromosome 15, position 44620410, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATAGCGCCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGAACACGAGGTCAGGAGATGAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAAGAAATCAGCCGGGCG... | AAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGAGGAGACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATAGCGCCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGAACACGAGGTCAGGAGATGAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAAGAAATCAGCCGGGCG... | benign | 231,396 |
A genetic variant on chromosome 15, position 44621953, affects the gene SPG11 (SPG11 vesicle trafficking associated, spatacsin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGGGTTTCACCGTGTTGGCAAGATTTGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGCACTTGGCCAAATGAGTATGATTTTAAAACCTCACTGTAAGATGATGCCCTTTAAATTTTATAGTAATATGAAACAACACTACACTGGATTTATGGCATTTCAAAGGAAAAGCTATACCATTATTTTTTCTTGCTCTTCCCTTGTATTCTTCCCATTGGGTATTAGTTCAACAGTTATAATACCTGGCCAGCTTATCTAAAATTTCATTCCTCATGTA... | AGGGTTTCACCGTGTTGGCAAGATTTGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGCACTTGGCCAAATGAGTATGATTTTAAAACCTCACTGTAAGATGATGCCCTTTAAATTTTATAGTAATATGAAACAACACTACACTGGATTTATGGCATTTCAAAGGAAAAGCTATACCATTATTTTTTCTTGCTCTTCCCTTGTATTCTTCCCATTGGGTATTAGTTCAACAGTTATAATACCTGGCCAGCTTATCTAAAATTTCATTCCTCATGTA... | benign | 231,404 |
Assess the variant on chromosome 15, position 44621953, impacting SPG11 (SPG11 vesicle trafficking associated, spatacsin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AGGGTTTCACCGTGTTGGCAAGATTTGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGCACTTGGCCAAATGAGTATGATTTTAAAACCTCACTGTAAGATGATGCCCTTTAAATTTTATAGTAATATGAAACAACACTACACTGGATTTATGGCATTTCAAAGGAAAAGCTATACCATTATTTTTTCTTGCTCTTCCCTTGTATTCTTCCCATTGGGTATTAGTTCAACAGTTATAATACCTGGCCAGCTTATCTAAAATTTCATTCCTCATGTA... | AGGGTTTCACCGTGTTGGCAAGATTTGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGCACTTGGCCAAATGAGTATGATTTTAAAACCTCACTGTAAGATGATGCCCTTTAAATTTTATAGTAATATGAAACAACACTACACTGGATTTATGGCATTTCAAAGGAAAAGCTATACCATTATTTTTTCTTGCTCTTCCCTTGTATTCTTCCCATTGGGTATTAGTTCAACAGTTATAATACCTGGCCAGCTTATCTAAAATTTCATTCCTCATGTA... | benign | 231,405 |
The chromosome 15, position 44622778 genetic variant in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_11'] | GCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGATTACAGGAATGCACCACCACACCCAGCTAATTGTTGTATTTTTAGTAGAGGCGGGGTTTCACAATGTTGGCCAAGCTGGTCTTGAACTCAGGTGATTCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCGTCCACCCAGGTATTTTAAAAAATATATATTCTGTAGAGATGGGGGTCTCACTATGTTGCTAG... | GCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGATTACAGGAATGCACCACCACACCCAGCTAATTGTTGTATTTTTAGTAGAGGCGGGGTTTCACAATGTTGGCCAAGCTGGTCTTGAACTCAGGTGATTCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCGTCCACCCAGGTATTTTAAAAAATATATATTCTGTAGAGATGGGGGTCTCACTATGTTGCTAG... | pathogenic | 231,417 |
Variant in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin), located at chromosome 15 position 44626411: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | TGCAATTTTAAACAACATGGCTGAACCTGGAAGATATTATGCTAAATGAAATAAGCCAGACAAAGAAAGACAAATTCTTCATGCTCTCACTTATATATGGAATCTAAAAAAAAGCTGAACTCACAGTAATAGAGAGTGGAATGATATTACCAAGGACTGTGGGGTAGGGGAAAGGAGTAGATATTGGTCAAAAGGTACAAACTTTCAGATATAAGATAAATAAGTTCTGGAGACCTATGTACAGCATAGTAACTAAAGTTAATAATAATACATTGTATACTTGAAATCTGTTGAGAGTAGATCTCAAGTGTTCTCACCAT... | TGCAATTTTAAACAACATGGCTGAACCTGGAAGATATTATGCTAAATGAAATAAGCCAGACAAAGAAAGACAAATTCTTCATGCTCTCACTTATATATGGAATCTAAAAAAAAGCTGAACTCACAGTAATAGAGAGTGGAATGATATTACCAAGGACTGTGGGGTAGGGGAAAGGAGTAGATATTGGTCAAAAGGTACAAACTTTCAGATATAAGATAAATAAGTTCTGGAGACCTATGTACAGCATAGTAACTAAAGTTAATAATAATACATTGTATACTTGAAATCTGTTGAGAGTAGATCTCAAGTGTTCTCACCAT... | pathogenic | 231,422 |
A genetic variant on chromosome 15, position 44628768, affects the gene SPG11 (SPG11 vesicle trafficking associated, spatacsin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11'] | TGTATGATAAGGGCTGTGATAAAAGTAACCCAGGGTGCTAGAGAGGAAGGTCTAGAAGAGAAACACCTAAATAAGAAGGATGACCACCCCCACCCCCGTGTCCCCCCACATAGGCTTGCTAGTAGAAGTAACTAGTAACTGATGGGCAAAAAATTTAAAGACCAGTAAGTGTTCCGTAGATATACTGAGATAAGAGGATAAGTGTTCCAAAAAGAGGGAATATCATATGCAGAGGGACAAAGAAAAGAAACTGCATCAAGCCTTCAGGGAACTACAAATTACTCAATGTAACTGGAGAGAGTAGCAGATGAGACTTGAAA... | TGTATGATAAGGGCTGTGATAAAAGTAACCCAGGGTGCTAGAGAGGAAGGTCTAGAAGAGAAACACCTAAATAAGAAGGATGACCACCCCCACCCCCGTGTCCCCCCACATAGGCTTGCTAGTAGAAGTAACTAGTAACTGATGGGCAAAAAATTTAAAGACCAGTAAGTGTTCCGTAGATATACTGAGATAAGAGGATAAGTGTTCCAAAAAGAGGGAATATCATATGCAGAGGGACAAAGAAAAGAAACTGCATCAAGCCTTCAGGGAACTACAAATTACTCAATGTAACTGGAGAGAGTAGCAGATGAGACTTGAAA... | pathogenic | 231,425 |
Is the genetic change at chromosome 15, position 44629286, within gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia_11'] | TACCAATAATCCATGTGAAAAGAAATACTTAAACTGAAGATCTAAACACTAGAGGGAACAGAAAGGAGGCACTCTTAACCTAGGGCTTTAAAGAGATCTGTAAACCCCATTAAGCCATGTATAAAATTTTGTCTATGTGTACACATTCACATGCCTGTTTTTGAAGACAGGGTCTACAATTTTTACCAGAGTAAAATATAACCCCTTCCCCTGGCAAAAGTTGAAAATCAGTGATTTTGAGTAAAAAGAGGACCATAGACAGAGCCTTGCAGAACATTAAAGGAGGGAAACAGGAAGAGAAATCTGTGAAGGAGACAGGA... | TACCAATAATCCATGTGAAAAGAAATACTTAAACTGAAGATCTAAACACTAGAGGGAACAGAAAGGAGGCACTCTTAACCTAGGGCTTTAAAGAGATCTGTAAACCCCATTAAGCCATGTATAAAATTTTGTCTATGTGTACACATTCACATGCCTGTTTTTGAAGACAGGGTCTACAATTTTTACCAGAGTAAAATATAACCCCTTCCCCTGGCAAAAGTTGAAAATCAGTGATTTTGAGTAAAAAGAGGACCATAGACAGAGCCTTGCAGAACATTAAAGGAGGGAAACAGGAAGAGAAATCTGTGAAGGAGACAGGA... | pathogenic | 231,430 |
Clinically, how would you classify the variant at chromosome 15, position 44629302, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | GAAAAGAAATACTTAAACTGAAGATCTAAACACTAGAGGGAACAGAAAGGAGGCACTCTTAACCTAGGGCTTTAAAGAGATCTGTAAACCCCATTAAGCCATGTATAAAATTTTGTCTATGTGTACACATTCACATGCCTGTTTTTGAAGACAGGGTCTACAATTTTTACCAGAGTAAAATATAACCCCTTCCCCTGGCAAAAGTTGAAAATCAGTGATTTTGAGTAAAAAGAGGACCATAGACAGAGCCTTGCAGAACATTAAAGGAGGGAAACAGGAAGAGAAATCTGTGAAGGAGACAGGAAAAAGGAGACAAAAAA... | GAAAAGAAATACTTAAACTGAAGATCTAAACACTAGAGGGAACAGAAAGGAGGCACTCTTAACCTAGGGCTTTAAAGAGATCTGTAAACCCCATTAAGCCATGTATAAAATTTTGTCTATGTGTACACATTCACATGCCTGTTTTTGAAGACAGGGTCTACAATTTTTACCAGAGTAAAATATAACCCCTTCCCCTGGCAAAAGTTGAAAATCAGTGATTTTGAGTAAAAAGAGGACCATAGACAGAGCCTTGCAGAACATTAAAGGAGGGAAACAGGAAGAGAAATCTGTGAAGGAGACAGGAAAAAGGAGACAAAAAA... | pathogenic | 231,432 |
Chromosome 15, position 44629304, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | AAAGAAATACTTAAACTGAAGATCTAAACACTAGAGGGAACAGAAAGGAGGCACTCTTAACCTAGGGCTTTAAAGAGATCTGTAAACCCCATTAAGCCATGTATAAAATTTTGTCTATGTGTACACATTCACATGCCTGTTTTTGAAGACAGGGTCTACAATTTTTACCAGAGTAAAATATAACCCCTTCCCCTGGCAAAAGTTGAAAATCAGTGATTTTGAGTAAAAAGAGGACCATAGACAGAGCCTTGCAGAACATTAAAGGAGGGAAACAGGAAGAGAAATCTGTGAAGGAGACAGGAAAAAGGAGACAAAAAAGT... | AAAGAAATACTTAAACTGAAGATCTAAACACTAGAGGGAACAGAAAGGAGGCACTCTTAACCTAGGGCTTTAAAGAGATCTGTAAACCCCATTAAGCCATGTATAAAATTTTGTCTATGTGTACACATTCACATGCCTGTTTTTGAAGACAGGGTCTACAATTTTTACCAGAGTAAAATATAACCCCTTCCCCTGGCAAAAGTTGAAAATCAGTGATTTTGAGTAAAAAGAGGACCATAGACAGAGCCTTGCAGAACATTAAAGGAGGGAAACAGGAAGAGAAATCTGTGAAGGAGACAGGAAAAAGGAGACAAAAAAGT... | pathogenic | 231,434 |
Variant chromosome 15, position 44633498, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_spastic_paraplegia_11'] | AGAATGTGGCAACACTTAATTTCATAACATGGAAAAGGTGTTCTAGTGAGCTGAGCAGAAGGGGTTGGCTTTATAGACATGGAAGAGCTGAAGAAAGCAGAAGCAAAGAAAAAAGAGCATATTAGTTGTTTCAAAGCTACTTTTTTTGTAAGATGAAGAGAGACAGAATAATACAAAAAATACTGATTATTTAACATGAAACTGCATCAGGCTTTTTTTTTTTTTTTCAATTAAAAATAGAGGCTGAGTCTCACTATGTTGCCCAGGCTGGTCATGAACTCTTGGTCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGT... | AGAATGTGGCAACACTTAATTTCATAACATGGAAAAGGTGTTCTAGTGAGCTGAGCAGAAGGGGTTGGCTTTATAGACATGGAAGAGCTGAAGAAAGCAGAAGCAAAGAAAAAAGAGCATATTAGTTGTTTCAAAGCTACTTTTTTTGTAAGATGAAGAGAGACAGAATAATACAAAAAATACTGATTATTTAACATGAAACTGCATCAGGCTTTTTTTTTTTTTTTCAATTAAAAATAGAGGCTGAGTCTCACTATGTTGCCCAGGCTGGTCATGAACTCTTGGTCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGT... | pathogenic | 231,437 |
The mutation impacting SPG11 (SPG11 vesicle trafficking associated, spatacsin) on chromosome 15 at position 44648985: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11', 'SPG11-related_disorder'] | CTATGTGACAAACCTGCAAATGTACCCCTGAACCTAAAATAAAAGTTAAAAAAATTTTAAAAAGGTGAAATAACAACCCAAAGAACGGGAGAAAGTATTTGTAAATCATGTATGTCATAGAGTCTAGCATCCAGAATATATACACAACTCTTAGAACTCAATAAAAAGACAACCTAATTTGACAGACATTTCTCCAAAGACGACACACAAATAGCCAATAAGCATATGAAAACATGTTCAACATGTTTAGTCATTAGGAAAATACAAATGAAAACCACAATGAGATGCCATTTCATTTTGACTTCACACTGACTAGGATG... | CTATGTGACAAACCTGCAAATGTACCCCTGAACCTAAAATAAAAGTTAAAAAAATTTTAAAAAGGTGAAATAACAACCCAAAGAACGGGAGAAAGTATTTGTAAATCATGTATGTCATAGAGTCTAGCATCCAGAATATATACACAACTCTTAGAACTCAATAAAAAGACAACCTAATTTGACAGACATTTCTCCAAAGACGACACACAAATAGCCAATAAGCATATGAAAACATGTTCAACATGTTTAGTCATTAGGAAAATACAAATGAAAACCACAATGAGATGCCATTTCATTTTGACTTCACACTGACTAGGATG... | pathogenic | 231,442 |
Chromosome 15, position 44648995, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | AACCTGCAAATGTACCCCTGAACCTAAAATAAAAGTTAAAAAAATTTTAAAAAGGTGAAATAACAACCCAAAGAACGGGAGAAAGTATTTGTAAATCATGTATGTCATAGAGTCTAGCATCCAGAATATATACACAACTCTTAGAACTCAATAAAAAGACAACCTAATTTGACAGACATTTCTCCAAAGACGACACACAAATAGCCAATAAGCATATGAAAACATGTTCAACATGTTTAGTCATTAGGAAAATACAAATGAAAACCACAATGAGATGCCATTTCATTTTGACTTCACACTGACTAGGATGGCTGCAATAA... | AACCTGCAAATGTACCCCTGAACCTAAAATAAAAGTTAAAAAAATTTTAAAAAGGTGAAATAACAACCCAAAGAACGGGAGAAAGTATTTGTAAATCATGTATGTCATAGAGTCTAGCATCCAGAATATATACACAACTCTTAGAACTCAATAAAAAGACAACCTAATTTGACAGACATTTCTCCAAAGACGACACACAAATAGCCAATAAGCATATGAAAACATGTTCAACATGTTTAGTCATTAGGAAAATACAAATGAAAACCACAATGAGATGCCATTTCATTTTGACTTCACACTGACTAGGATGGCTGCAATAA... | pathogenic | 231,443 |
Clinically, how would you classify the variant at chromosome 15, position 44651598, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11', 'SPG11-related_disorder'] | ACACTGACCACAAGGCAAATTCTTATAAGAGCAATGCATTTTATGAAATAGCACTAAATTAGCCAGGCACAGTGGCTCCTGCCTGTAATCCCAGCACTTCAGGAGGCCGAGGTGGGCAGACCACCTGAGGTCAGGAGTTTGGGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACCAAAAATACACAAAAATTTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAGATCACACCATTGCACTCCAGCCAG... | ACACTGACCACAAGGCAAATTCTTATAAGAGCAATGCATTTTATGAAATAGCACTAAATTAGCCAGGCACAGTGGCTCCTGCCTGTAATCCCAGCACTTCAGGAGGCCGAGGTGGGCAGACCACCTGAGGTCAGGAGTTTGGGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACCAAAAATACACAAAAATTTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAGATCACACCATTGCACTCCAGCCAG... | pathogenic | 231,449 |
A mutation at chromosome position 44651599 on chromosome 15 in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CACTGACCACAAGGCAAATTCTTATAAGAGCAATGCATTTTATGAAATAGCACTAAATTAGCCAGGCACAGTGGCTCCTGCCTGTAATCCCAGCACTTCAGGAGGCCGAGGTGGGCAGACCACCTGAGGTCAGGAGTTTGGGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACCAAAAATACACAAAAATTTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAGATCACACCATTGCACTCCAGCCAGG... | CACTGACCACAAGGCAAATTCTTATAAGAGCAATGCATTTTATGAAATAGCACTAAATTAGCCAGGCACAGTGGCTCCTGCCTGTAATCCCAGCACTTCAGGAGGCCGAGGTGGGCAGACCACCTGAGGTCAGGAGTTTGGGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACCAAAAATACACAAAAATTTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAGATCACACCATTGCACTCCAGCCAGG... | benign | 231,451 |
Variant in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin), located at chromosome 15 position 44651620: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | TTATAAGAGCAATGCATTTTATGAAATAGCACTAAATTAGCCAGGCACAGTGGCTCCTGCCTGTAATCCCAGCACTTCAGGAGGCCGAGGTGGGCAGACCACCTGAGGTCAGGAGTTTGGGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACCAAAAATACACAAAAATTTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAGATCACACCATTGCACTCCAGCCAGGGAGACAAGAGTGAGACTCCAT... | TTATAAGAGCAATGCATTTTATGAAATAGCACTAAATTAGCCAGGCACAGTGGCTCCTGCCTGTAATCCCAGCACTTCAGGAGGCCGAGGTGGGCAGACCACCTGAGGTCAGGAGTTTGGGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACCAAAAATACACAAAAATTTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAGATCACACCATTGCACTCCAGCCAGGGAGACAAGAGTGAGACTCCAT... | pathogenic | 231,453 |
Clinical classification of chromosome 15, position 44651743, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases', 'SPG11-related_disorder'] | CAGCCTGGCCAACATGATGAAACCCCGTCTCTACCAAAAATACACAAAAATTTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAGATCACACCATTGCACTCCAGCCAGGGAGACAAGAGTGAGACTCCATATCAAAAAAAAAAAAAAGCACTAAACCCCACATTTCTACTTTATATTATCTTGCATAATCAATCCTGGAACCTTTAATCATTTACAGATGTCAGATTTCTGGTTTACTATTATAAAATAATTC... | CAGCCTGGCCAACATGATGAAACCCCGTCTCTACCAAAAATACACAAAAATTTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAGATCACACCATTGCACTCCAGCCAGGGAGACAAGAGTGAGACTCCATATCAAAAAAAAAAAAAAGCACTAAACCCCACATTTCTACTTTATATTATCTTGCATAATCAATCCTGGAACCTTTAATCATTTACAGATGTCAGATTTCTGGTTTACTATTATAAAATAATTC... | pathogenic | 231,455 |
Is the genetic variant on chromosome 15, position 44657229, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Abnormal_central_motor_function', 'Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | CTACTCGGGAGGCTGAGTTGGAGGACTGCTTGGGCCCAGGAGTTTGAGTCCAGCCTGGACAACATAGCAAGATCCTGTCTCTAAAATAATAACAACATAATTTTTTAAAAGTGATTTCTTGTGGTTCTCATGTATTTTTCATCATGTTTCGTGCCATACCATAACCTTGTATAACACCATGGGACCCATATGAAATGTAATGCTGGAAGTGCTCCCAAGTAGAGAAAAGTCATGACATTGTAAGAAAAACATGAATTGCCTGACATGTACCATGGGTTGAGGTATGCTGCTGCGGTTGCTTGCCTTTTCAGACAGACTAC... | CTACTCGGGAGGCTGAGTTGGAGGACTGCTTGGGCCCAGGAGTTTGAGTCCAGCCTGGACAACATAGCAAGATCCTGTCTCTAAAATAATAACAACATAATTTTTTAAAAGTGATTTCTTGTGGTTCTCATGTATTTTTCATCATGTTTCGTGCCATACCATAACCTTGTATAACACCATGGGACCCATATGAAATGTAATGCTGGAAGTGCTCCCAAGTAGAGAAAAGTCATGACATTGTAAGAAAAACATGAATTGCCTGACATGTACCATGGGTTGAGGTATGCTGCTGCGGTTGCTTGCCTTTTCAGACAGACTAC... | pathogenic | 231,470 |
Mutation found at chromosome 15 position 44657258, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | TTGGGCCCAGGAGTTTGAGTCCAGCCTGGACAACATAGCAAGATCCTGTCTCTAAAATAATAACAACATAATTTTTTAAAAGTGATTTCTTGTGGTTCTCATGTATTTTTCATCATGTTTCGTGCCATACCATAACCTTGTATAACACCATGGGACCCATATGAAATGTAATGCTGGAAGTGCTCCCAAGTAGAGAAAAGTCATGACATTGTAAGAAAAACATGAATTGCCTGACATGTACCATGGGTTGAGGTATGCTGCTGCGGTTGCTTGCCTTTTCAGACAGACTACTCATCTTGTAAACAGATTATGTAGAGTAT... | TTGGGCCCAGGAGTTTGAGTCCAGCCTGGACAACATAGCAAGATCCTGTCTCTAAAATAATAACAACATAATTTTTTAAAAGTGATTTCTTGTGGTTCTCATGTATTTTTCATCATGTTTCGTGCCATACCATAACCTTGTATAACACCATGGGACCCATATGAAATGTAATGCTGGAAGTGCTCCCAAGTAGAGAAAAGTCATGACATTGTAAGAAAAACATGAATTGCCTGACATGTACCATGGGTTGAGGTATGCTGCTGCGGTTGCTTGCCTTTTCAGACAGACTACTCATCTTGTAAACAGATTATGTAGAGTAT... | pathogenic | 231,472 |
Considering the genetic mutation at chromosome 15, position 44659129, impacting SPG11 (SPG11 vesicle trafficking associated, spatacsin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | AGTCATCTACATACCTGAAATACAAATTTAAGTTAAGAGCAACTGCGGAGTTGGAGGAGCTGACAATCACTGCAACATCGAGGTCTTGAGAAACTTTCAGTGAAGTAAATGAAGAAATCTTGGCTGGCTCCTGTTGCTGCTCATTACACATGTCTTCTTTGTGAAGTGCTAAATCCACATGAGCTACATATGTACCATCCACAACATCAAAAATGTCTTTTAGTTAGAGTTAAAAGAAAATGCCAGTTTTGTAAGTATGCCTAACTATTTAAAGCACAGGTTGGGAAAGAGCTATAGACTTTATCACTCCAATTTTGTAG... | AGTCATCTACATACCTGAAATACAAATTTAAGTTAAGAGCAACTGCGGAGTTGGAGGAGCTGACAATCACTGCAACATCGAGGTCTTGAGAAACTTTCAGTGAAGTAAATGAAGAAATCTTGGCTGGCTCCTGTTGCTGCTCATTACACATGTCTTCTTTGTGAAGTGCTAAATCCACATGAGCTACATATGTACCATCCACAACATCAAAAATGTCTTTTAGTTAGAGTTAAAAGAAAATGCCAGTTTTGTAAGTATGCCTAACTATTTAAAGCACAGGTTGGGAAAGAGCTATAGACTTTATCACTCCAATTTTGTAG... | pathogenic | 231,475 |
Benign or pathogenic: chromosome 15, position 44659212, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) variant? Disease(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | TCTTGAGAAACTTTCAGTGAAGTAAATGAAGAAATCTTGGCTGGCTCCTGTTGCTGCTCATTACACATGTCTTCTTTGTGAAGTGCTAAATCCACATGAGCTACATATGTACCATCCACAACATCAAAAATGTCTTTTAGTTAGAGTTAAAAGAAAATGCCAGTTTTGTAAGTATGCCTAACTATTTAAAGCACAGGTTGGGAAAGAGCTATAGACTTTATCACTCCAATTTTGTAGGTATAACAGAAGAAGACTGAAAACTGAGGCAAGCCCCCATTATAACAACCAGATGACTATGAAGTTGATGCCACAATAAAGAA... | TCTTGAGAAACTTTCAGTGAAGTAAATGAAGAAATCTTGGCTGGCTCCTGTTGCTGCTCATTACACATGTCTTCTTTGTGAAGTGCTAAATCCACATGAGCTACATATGTACCATCCACAACATCAAAAATGTCTTTTAGTTAGAGTTAAAAGAAAATGCCAGTTTTGTAAGTATGCCTAACTATTTAAAGCACAGGTTGGGAAAGAGCTATAGACTTTATCACTCCAATTTTGTAGGTATAACAGAAGAAGACTGAAAACTGAGGCAAGCCCCCATTATAACAACCAGATGACTATGAAGTTGATGCCACAATAAAGAA... | pathogenic | 231,477 |
Considering the variant on chromosome 15, location 44660588, involving gene SPG11 (SPG11 vesicle trafficking associated, spatacsin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | CCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCACATAAGCACATAGTAGATATTCAAGAAATACATTTTGAATAAACAGGTAATGCAGAGAATATACAATTTTAAAAGAACACAGATATGTATGGTTAATACT... | CCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCACATAAGCACATAGTAGATATTCAAGAAATACATTTTGAATAAACAGGTAATGCAGAGAATATACAATTTTAAAAGAACACAGATATGTATGGTTAATACT... | pathogenic | 231,484 |
Variant in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin), located at chromosome 15 position 44660621: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCACATAAGCACATAGTAGATATTCAAGAAATACATTTTGAATAAACAGGTAATGCAGAGAATATACAATTTTAAAAGAACACAGATATGTATGGTTAATACTATTAAAAATGTATATACTGGAAAATATTCAACT... | CTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCACATAAGCACATAGTAGATATTCAAGAAATACATTTTGAATAAACAGGTAATGCAGAGAATATACAATTTTAAAAGAACACAGATATGTATGGTTAATACTATTAAAAATGTATATACTGGAAAATATTCAACT... | benign | 231,488 |
The chromosome 15, position 44663444 genetic variant in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_5', 'Charcot-Marie-Tooth_disease_axonal_type_2X', 'Hereditary_spastic_paraplegia_11'] | TATACCATGCTGATAAAATTTCATCTTTTAAGAAACTTGCTTCTACAGAAGTAGTGTTTTATACTTCTAGAGTAGTATATAAAACTACTGTGGTACATACATGATTTAATTCAATTAGTAATAAAACTAATAAGAGTACATAATAGTATTATGTACTATTATGTATTTTATACTACTATAGTAGTTTTATACTATTATAGTATTAATATGTCCTTATTAGGTAAAAAAAAGACATTTTTCTGACTGTTCATATTGATAAATGTAGAAAATAACCTAAATGTCAAATATACAAAAGGTTAAACTAAGATATACTTAAAAGG... | TATACCATGCTGATAAAATTTCATCTTTTAAGAAACTTGCTTCTACAGAAGTAGTGTTTTATACTTCTAGAGTAGTATATAAAACTACTGTGGTACATACATGATTTAATTCAATTAGTAATAAAACTAATAAGAGTACATAATAGTATTATGTACTATTATGTATTTTATACTACTATAGTAGTTTTATACTATTATAGTATTAATATGTCCTTATTAGGTAAAAAAAAGACATTTTTCTGACTGTTCATATTGATAAATGTAGAAAATAACCTAAATGTCAAATATACAAAAGGTTAAACTAAGATATACTTAAAAGG... | pathogenic | 231,493 |
Chromosome 15, position 45069018, gene SORD (sorbitol dehydrogenase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Idiopathic_environmental_intolerance', 'Inborn_genetic_diseases', 'Neuromuscular_disease', 'Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_8', 'Peripheral_neuropathy'] | AGCCCAAGAGAACCACTGTTAATATTTGGGTATAGAATCTTTTAGTTAGTTAGTTTTTTTCTGAGACCATGCTAAATACGCTTCCTTTACCTACTCTTTTTTAAAAATCAGGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCAGTCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAATCTCCACTACTTAGGAGGCTGAGGTGAGAGAATTGCTTGAACCCGGG... | AGCCCAAGAGAACCACTGTTAATATTTGGGTATAGAATCTTTTAGTTAGTTAGTTTTTTTCTGAGACCATGCTAAATACGCTTCCTTTACCTACTCTTTTTTAAAAATCAGGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAAGCAGTCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAATCTCCACTACTTAGGAGGCTGAGGTGAGAGAATTGCTTGAACCCGGG... | pathogenic | 231,517 |
Considering the genetic mutation at chromosome 15, position 45094561, impacting DUOX2 (dual oxidase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Thyroid_dyshormonogenesis_6'] | GTGGGGCCAGTGAGAAGACAAACCTGGTCTGAAACTCTCCCTCCACAGGTCCTACTGGCTGGATAACTGTATGACCCAGCAATTCCACTCATAGATACATACTCAAGAGAAATGAGTGCATGATGGCCACCAAAACATAGGTACAAGAACACTCACAGAATTTTTATTTATAATCATTCAAAATTAGAAACAACCCAAACGTCCATCAACAGAAGAATAAACAAACTGTGGTACATCTCTACAATAGAATACTACTCAGCAATGAAAAGGAACAAACTGCTGATACACACAACAGCATGGATGAATTACAAAGGCATTAT... | GTGGGGCCAGTGAGAAGACAAACCTGGTCTGAAACTCTCCCTCCACAGGTCCTACTGGCTGGATAACTGTATGACCCAGCAATTCCACTCATAGATACATACTCAAGAGAAATGAGTGCATGATGGCCACCAAAACATAGGTACAAGAACACTCACAGAATTTTTATTTATAATCATTCAAAATTAGAAACAACCCAAACGTCCATCAACAGAAGAATAAACAAACTGTGGTACATCTCTACAATAGAATACTACTCAGCAATGAAAAGGAACAAACTGCTGATACACACAACAGCATGGATGAATTACAAAGGCATTAT... | pathogenic | 231,545 |
A genetic variant on chromosome 15, position 45095523, affects the gene DUOX2 (dual oxidase 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Thyroid_dyshormonogenesis_6'] | ACTTTGGGGACGGGAAGGGGTAGAAGTAGGGCTGCTCCTTTTGGAGCTGGAGGGAATAGACCTGGAGACAGAGTTGAGGCAGTCGGGCTGTCCAGGTTCTAAGCATCACAGCTTCTGCACTGGGCTCTGAGGAGATTCTCAGCCAGAGGATCCCAGCCTCCTCCTCCCTCAAATGTCAGTCCAAGCAAATACCAAAGCAACGCATCGATTTTGTGGAAGTCAATTAGAGATGTGGGGAGCTATCGGAGACAAGCACTATTGTACCTTTTCACCTCCACACTTGTCACAAGCAGGGACTGTCTCCTCCCCACTTTGCTTGC... | ACTTTGGGGACGGGAAGGGGTAGAAGTAGGGCTGCTCCTTTTGGAGCTGGAGGGAATAGACCTGGAGACAGAGTTGAGGCAGTCGGGCTGTCCAGGTTCTAAGCATCACAGCTTCTGCACTGGGCTCTGAGGAGATTCTCAGCCAGAGGATCCCAGCCTCCTCCTCCCTCAAATGTCAGTCCAAGCAAATACCAAAGCAACGCATCGATTTTGTGGAAGTCAATTAGAGATGTGGGGAGCTATCGGAGACAAGCACTATTGTACCTTTTCACCTCCACACTTGTCACAAGCAGGGACTGTCTCCTCCCCACTTTGCTTGC... | pathogenic | 231,552 |
Clinical significance of chromosome 15, position 45097333, gene DUOX2 (dual oxidase 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Thyroid_dyshormonogenesis_6'] | CCTCCAAGTTTGGCATCTCAACCACTGGGTAAGAATGACCCCTTCAGACTCAGTTCCTGGAGCCAGGAGCTTTCTCTCATGCTCCACCACTTGATGCGGGTCACAATTCGGCCACCTATGCCCCATTTGATGAATGAGGGAGGGATGCTCACCTTCTTACACAGCATTTGGCTGCCCAAGGATGACTTGAAGACCAGGTCTTTGAGGATGGAGGCAAAGGGGGTGACCCCAATGCCCCCTCCCACCAACACTGACACCTCAAATTTATGCCACTCCTGATGGCCCTCTCCAAACGGTCCATCAAGGTACAGCTGCCAAGA... | CCTCCAAGTTTGGCATCTCAACCACTGGGTAAGAATGACCCCTTCAGACTCAGTTCCTGGAGCCAGGAGCTTTCTCTCATGCTCCACCACTTGATGCGGGTCACAATTCGGCCACCTATGCCCCATTTGATGAATGAGGGAGGGATGCTCACCTTCTTACACAGCATTTGGCTGCCCAAGGATGACTTGAAGACCAGGTCTTTGAGGATGGAGGCAAAGGGGGTGACCCCAATGCCCCCTCCCACCAACACTGACACCTCAAATTTATGCCACTCCTGATGGCCCTCTCCAAACGGTCCATCAAGGTACAGCTGCCAAGA... | pathogenic | 231,561 |
Considering the variant on chromosome 15, location 45097639, involving gene DUOX2 (dual oxidase 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Thyroid_dyshormonogenesis_6'] | TACAGCTGCCAAGAGAGGGGGGAGATGAAATGAGCCTGACCCTGCCCCAGCTCTGAGACCAGAAACGGAGACACAGGCAGAGGGAGGATACAGAACATCCTAGTCTTTTCTGAGGCACCCCGGTCCTCTCCCAGGCTGGCTTTGGGACGGCTGGAGCTTCTAGTCTCAGGATAGGGAAGGGCAGAGATCCTCTGCCAGTGCCAGAGGCCCGGAAGCAGGGTTCCCAGTGACGGGCACCTTTGGGTATCCAGCACAGCCATTGCCCTTTGGGGATGAGTAGATCTCCCTGAGGCGAGTGGTCCAGGGCCCCACTGCCCGGA... | TACAGCTGCCAAGAGAGGGGGGAGATGAAATGAGCCTGACCCTGCCCCAGCTCTGAGACCAGAAACGGAGACACAGGCAGAGGGAGGATACAGAACATCCTAGTCTTTTCTGAGGCACCCCGGTCCTCTCCCAGGCTGGCTTTGGGACGGCTGGAGCTTCTAGTCTCAGGATAGGGAAGGGCAGAGATCCTCTGCCAGTGCCAGAGGCCCGGAAGCAGGGTTCCCAGTGACGGGCACCTTTGGGTATCCAGCACAGCCATTGCCCTTTGGGGATGAGTAGATCTCCCTGAGGCGAGTGGTCCAGGGCCCCACTGCCCGGA... | pathogenic | 231,564 |
For chromosome 15, position 45098042, gene DUOX2 (dual oxidase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Thyroid_dyshormonogenesis_6'] | ATCCGCACCCACTGTCCTGACTTGTACTCAAAGCCTTGGGGCCTCTGGAATTGCAGGTAGGTCACTCCTGGAGGTCATAGACAGGGAAAAGCACAGATGAGAAGGCCTGCTCCTGGTACCTGAGGACTGATAGGCACCTGTCCTCTTCACACCCCTGAGGCCTGGGGAGTAGTCACATGGTCTGAGCAAGCGGGGCTCCTGGGGCTGGGAGTAGGAGGGTCCCCTTCTCTGTTTCCCAGGTAATGCAAGAGCTGGGTTTCTCTGCTCCCCTGTTCCAGCCCCTCTCCTCCTCTCTACTCCCTCTTCCCATGGAAGGCCCA... | ATCCGCACCCACTGTCCTGACTTGTACTCAAAGCCTTGGGGCCTCTGGAATTGCAGGTAGGTCACTCCTGGAGGTCATAGACAGGGAAAAGCACAGATGAGAAGGCCTGCTCCTGGTACCTGAGGACTGATAGGCACCTGTCCTCTTCACACCCCTGAGGCCTGGGGAGTAGTCACATGGTCTGAGCAAGCGGGGCTCCTGGGGCTGGGAGTAGGAGGGTCCCCTTCTCTGTTTCCCAGGTAATGCAAGAGCTGGGTTTCTCTGCTCCCCTGTTCCAGCCCCTCTCCTCCTCTCTACTCCCTCTTCCCATGGAAGGCCCA... | pathogenic | 231,566 |
Does the variant on chromosome 15 at location 45099473 affecting gene DUOX2 (dual oxidase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; [] | CAGCCAGGCCCCTGCCCGGCATCCCCTCTTGCCCAGGCACTAGGCCTGTGCCGGGGAGATAGGGCTGAGGTCTGGGGTCTTAAATCTCAAAGTCTCATTCTGAGATCTTGGATCCAATTCTCCCTCTTTCACCTTCCTGTCCCATCCTGAGCTCCCTGCTCCATGGGCTGGCCCAGGGAAGTCCCTCACCAGGGCATAGAGCAGGATGTAGAGGTGGTGGGTCAGCCAGAAGCCCCGGAAGCTGCGGCGGCGGAAGTGGTGGGAGGCGAAGACATACATGATGGCCAGGACCAGGAGCAGAAGCACACCTGTCATACCTG... | CAGCCAGGCCCCTGCCCGGCATCCCCTCTTGCCCAGGCACTAGGCCTGTGCCGGGGAGATAGGGCTGAGGTCTGGGGTCTTAAATCTCAAAGTCTCATTCTGAGATCTTGGATCCAATTCTCCCTCTTTCACCTTCCTGTCCCATCCTGAGCTCCCTGCTCCATGGGCTGGCCCAGGGAAGTCCCTCACCAGGGCATAGAGCAGGATGTAGAGGTGGTGGGTCAGCCAGAAGCCCCGGAAGCTGCGGCGGCGGAAGTGGTGGGAGGCGAAGACATACATGATGGCCAGGACCAGGAGCAGAAGCACACCTGTCATACCTG... | pathogenic | 231,573 |
A genetic variant on chromosome 15, position 45099736, affects the gene DUOX2 (dual oxidase 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Thyroid_dyshormonogenesis_6'] | AGGCGAAGACATACATGATGGCCAGGACCAGGAGCAGAAGCACACCTGTCATACCTGGGGGCAGGAAGACAGGGCCAGTGAGTAGTCTCAGGACTTCAGCTTGGGCTGAAAAGACAACAGCACATTCCCCTATCCTTCCCTCCTTCCTCTCTCATCCCTCCGGGGCCCCCAGAAAAGCCTGCCTGGAGGGATTTGAGCTGGGGCTTGTCCTGAAGGCTAGAAACAGACCCCATGGCCAGTATAGACAAGTGAGTATTCACAGAGAGATGGAGACAAAAGCAGAAGTCCTCAGACAGAACCCCCAGGTCCCACGTTTCCTA... | AGGCGAAGACATACATGATGGCCAGGACCAGGAGCAGAAGCACACCTGTCATACCTGGGGGCAGGAAGACAGGGCCAGTGAGTAGTCTCAGGACTTCAGCTTGGGCTGAAAAGACAACAGCACATTCCCCTATCCTTCCCTCCTTCCTCTCTCATCCCTCCGGGGCCCCCAGAAAAGCCTGCCTGGAGGGATTTGAGCTGGGGCTTGTCCTGAAGGCTAGAAACAGACCCCATGGCCAGTATAGACAAGTGAGTATTCACAGAGAGATGGAGACAAAAGCAGAAGTCCTCAGACAGAACCCCCAGGTCCCACGTTTCCTA... | pathogenic | 231,576 |
Variant in gene DUOX2 (dual oxidase 2), located at chromosome 15 position 45099751: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Thyroid_dyshormonogenesis_6'] | TGATGGCCAGGACCAGGAGCAGAAGCACACCTGTCATACCTGGGGGCAGGAAGACAGGGCCAGTGAGTAGTCTCAGGACTTCAGCTTGGGCTGAAAAGACAACAGCACATTCCCCTATCCTTCCCTCCTTCCTCTCTCATCCCTCCGGGGCCCCCAGAAAAGCCTGCCTGGAGGGATTTGAGCTGGGGCTTGTCCTGAAGGCTAGAAACAGACCCCATGGCCAGTATAGACAAGTGAGTATTCACAGAGAGATGGAGACAAAAGCAGAAGTCCTCAGACAGAACCCCCAGGTCCCACGTTTCCTACCTGGGACGGTCTGG... | TGATGGCCAGGACCAGGAGCAGAAGCACACCTGTCATACCTGGGGGCAGGAAGACAGGGCCAGTGAGTAGTCTCAGGACTTCAGCTTGGGCTGAAAAGACAACAGCACATTCCCCTATCCTTCCCTCCTTCCTCTCTCATCCCTCCGGGGCCCCCAGAAAAGCCTGCCTGGAGGGATTTGAGCTGGGGCTTGTCCTGAAGGCTAGAAACAGACCCCATGGCCAGTATAGACAAGTGAGTATTCACAGAGAGATGGAGACAAAAGCAGAAGTCCTCAGACAGAACCCCCAGGTCCCACGTTTCCTACCTGGGACGGTCTGG... | pathogenic | 231,578 |
Gene mutation in DUOX2 (dual oxidase 2) at chromosome 15, position 45099790—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Thyroid_dyshormonogenesis_6'] | CTGGGGGCAGGAAGACAGGGCCAGTGAGTAGTCTCAGGACTTCAGCTTGGGCTGAAAAGACAACAGCACATTCCCCTATCCTTCCCTCCTTCCTCTCTCATCCCTCCGGGGCCCCCAGAAAAGCCTGCCTGGAGGGATTTGAGCTGGGGCTTGTCCTGAAGGCTAGAAACAGACCCCATGGCCAGTATAGACAAGTGAGTATTCACAGAGAGATGGAGACAAAAGCAGAAGTCCTCAGACAGAACCCCCAGGTCCCACGTTTCCTACCTGGGACGGTCTGGAAGAACCACCAATAGAACTTCTGGGGAAGCTTGGACCTG... | CTGGGGGCAGGAAGACAGGGCCAGTGAGTAGTCTCAGGACTTCAGCTTGGGCTGAAAAGACAACAGCACATTCCCCTATCCTTCCCTCCTTCCTCTCTCATCCCTCCGGGGCCCCCAGAAAAGCCTGCCTGGAGGGATTTGAGCTGGGGCTTGTCCTGAAGGCTAGAAACAGACCCCATGGCCAGTATAGACAAGTGAGTATTCACAGAGAGATGGAGACAAAAGCAGAAGTCCTCAGACAGAACCCCCAGGTCCCACGTTTCCTACCTGGGACGGTCTGGAAGAACCACCAATAGAACTTCTGGGGAAGCTTGGACCTG... | pathogenic | 231,579 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 45100098, gene DUOX2 (dual oxidase 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Thyroid_dyshormonogenesis_6'] | AGCTTGGACCTGGGGGGCAAAGGCACCTTGAGCCTCTGACTGGGGCAGGAGGGGCTCCAGCACTGTCACAACACAGCATGACTCCTTTCCTGCTGGCCCTGACTGCTGAGGGTATGGGGCCTCCACCCAGTTGGCCAGGGATCCCTCCAAGGAACTTGGCACCCAGGCTTCCATGGTTCCACCCTCTGTACTCAGCAATTTTTCCTTCTGTGTTATCCTGAACTCTCTTACTGTGGTTGACCCCTGCTTCCTTGAGTCCCTGGTTCATTATTCTGTAAGCTCCATGAGGGCAGGGATTTTTGTTTCATTCACTGCTCTAT... | AGCTTGGACCTGGGGGGCAAAGGCACCTTGAGCCTCTGACTGGGGCAGGAGGGGCTCCAGCACTGTCACAACACAGCATGACTCCTTTCCTGCTGGCCCTGACTGCTGAGGGTATGGGGCCTCCACCCAGTTGGCCAGGGATCCCTCCAAGGAACTTGGCACCCAGGCTTCCATGGTTCCACCCTCTGTACTCAGCAATTTTTCCTTCTGTGTTATCCTGAACTCTCTTACTGTGGTTGACCCCTGCTTCCTTGAGTCCCTGGTTCATTATTCTGTAAGCTCCATGAGGGCAGGGATTTTTGTTTCATTCACTGCTCTAT... | pathogenic | 231,583 |
A genetic alteration at chromosome 15, position 45101218, in gene DUOX2 (dual oxidase 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTATTTCTTTTTCTATTATACCCTTGGGCCCACCCTATGAGTCCCAGGAGAAACCATCCCCAGAACTGACCCATCATTCACAAAGACGTTGGGGAATATGCAGGCCAGCAGGCTGAGTGGGCTGACTGAGAAGATGTAGACATTGACTGCGTGGCCAGCACTGTGCAAAACTGGAAG... | CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTATTTCTTTTTCTATTATACCCTTGGGCCCACCCTATGAGTCCCAGGAGAAACCATCCCCAGAACTGACCCATCATTCACAAAGACGTTGGGGAATATGCAGGCCAGCAGGCTGAGTGGGCTGACTGAGAAGATGTAGACATTGACTGCGTGGCCAGCACTGTGCAAAACTGGAAG... | pathogenic | 231,597 |
Benign or pathogenic: chromosome 15, position 45101227, gene DUOX2 (dual oxidase 2) variant? Disease(s) if pathogenic? | pathogenic; ['Congenital_hypothyroidism', 'DUOX2-related_disorder', 'Familial_thyroid_dyshormonogenesis', 'Genetic_transient_congenital_hypothyroidism', 'Inborn_genetic_diseases', 'Nongoitrous_Euthyroid_Hyperthyrotropinemia', 'Thyroid_dyshormonogenesis_6'] | TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTATTTCTTTTTCTATTATACCCTTGGGCCCACCCTATGAGTCCCAGGAGAAACCATCCCCAGAACTGACCCATCATTCACAAAGACGTTGGGGAATATGCAGGCCAGCAGGCTGAGTGGGCTGACTGAGAAGATGTAGACATTGACTGCGTGGCCAGCACTGTGCAAAACTGGAAGAGACAGACC... | TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTATTTCTTTTTCTATTATACCCTTGGGCCCACCCTATGAGTCCCAGGAGAAACCATCCCCAGAACTGACCCATCATTCACAAAGACGTTGGGGAATATGCAGGCCAGCAGGCTGAGTGGGCTGACTGAGAAGATGTAGACATTGACTGCGTGGCCAGCACTGTGCAAAACTGGAAGAGACAGACC... | pathogenic | 231,598 |
Clinically, how would you classify the variant at chromosome 15, position 45106272, gene DUOX2 (dual oxidase 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Thyroid_dyshormonogenesis_6'] | ACTCCACAAACATGTCCTGGGGCTTGAGGCCCAGGGACTCGGCAAACTCGGCCCTGCTCAGCTCGCAGGTCAGGGCCTCCCGCACCTTCTGGGAGGAGTCCAGGGGCAGGGTCCCTGCGTCGGCCTGGTTGATGTCCAGCACCTGCACTCGGGCAGCAGCAGAGGGAGGGAAAGAGAAGGAGGTGAAGCCTATGCTGGAAGCAGTTCAGTGACCCTTCATATCTCCCCAAAGTCCAAATCAGAAAGGCTAAACTCTGATGGTTCTCCTGATCCTTAGATATACTGACTGGGGCCTCTGTTGTCCTATAGACGGGGGAATC... | ACTCCACAAACATGTCCTGGGGCTTGAGGCCCAGGGACTCGGCAAACTCGGCCCTGCTCAGCTCGCAGGTCAGGGCCTCCCGCACCTTCTGGGAGGAGTCCAGGGGCAGGGTCCCTGCGTCGGCCTGGTTGATGTCCAGCACCTGCACTCGGGCAGCAGCAGAGGGAGGGAAAGAGAAGGAGGTGAAGCCTATGCTGGAAGCAGTTCAGTGACCCTTCATATCTCCCCAAAGTCCAAATCAGAAAGGCTAAACTCTGATGGTTCTCCTGATCCTTAGATATACTGACTGGGGCCTCTGTTGTCCTATAGACGGGGGAATC... | pathogenic | 231,624 |
For chromosome 15, position 45106589, gene DUOX2 (dual oxidase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Thyroid_dyshormonogenesis_6'] | ATCAAATCTCTAGCAGCCTGCCCATTTCTCCCTGGGCCCAAGAACCGGGAACTTCATGCAGTGGGCATGGTGCTGGGGTAGGGAAGGGGAAGGGCGAAGTTAAGGGGAATGGAAAGTGAGAGAGCCTATACTGGGGACAGAAGATGTAGAGACATGGTGGTAGACAGGCAGGAAGGGGCTGGGGCTGTGCTCTCTTGCCAATTCAGATAAGGCTGCCATGTGCCTATGATTTGCCCATTGCACAAAAAGTTTAAAAGTCGCATGTAACAACCATTTATTGTTTTTTGTTTGTTTTTTTGAGATGGAGTCTTGCTCTGTCA... | ATCAAATCTCTAGCAGCCTGCCCATTTCTCCCTGGGCCCAAGAACCGGGAACTTCATGCAGTGGGCATGGTGCTGGGGTAGGGAAGGGGAAGGGCGAAGTTAAGGGGAATGGAAAGTGAGAGAGCCTATACTGGGGACAGAAGATGTAGAGACATGGTGGTAGACAGGCAGGAAGGGGCTGGGGCTGTGCTCTCTTGCCAATTCAGATAAGGCTGCCATGTGCCTATGATTTGCCCATTGCACAAAAAGTTTAAAAGTCGCATGTAACAACCATTTATTGTTTTTTGTTTGTTTTTTTGAGATGGAGTCTTGCTCTGTCA... | pathogenic | 231,627 |
Regarding the variant at chromosome 15 and position 45106601, affecting gene DUOX2 (dual oxidase 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Thyroid_dyshormonogenesis_6'] | GCAGCCTGCCCATTTCTCCCTGGGCCCAAGAACCGGGAACTTCATGCAGTGGGCATGGTGCTGGGGTAGGGAAGGGGAAGGGCGAAGTTAAGGGGAATGGAAAGTGAGAGAGCCTATACTGGGGACAGAAGATGTAGAGACATGGTGGTAGACAGGCAGGAAGGGGCTGGGGCTGTGCTCTCTTGCCAATTCAGATAAGGCTGCCATGTGCCTATGATTTGCCCATTGCACAAAAAGTTTAAAAGTCGCATGTAACAACCATTTATTGTTTTTTGTTTGTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAG... | GCAGCCTGCCCATTTCTCCCTGGGCCCAAGAACCGGGAACTTCATGCAGTGGGCATGGTGCTGGGGTAGGGAAGGGGAAGGGCGAAGTTAAGGGGAATGGAAAGTGAGAGAGCCTATACTGGGGACAGAAGATGTAGAGACATGGTGGTAGACAGGCAGGAAGGGGCTGGGGCTGTGCTCTCTTGCCAATTCAGATAAGGCTGCCATGTGCCTATGATTTGCCCATTGCACAAAAAGTTTAAAAGTCGCATGTAACAACCATTTATTGTTTTTTGTTTGTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAG... | pathogenic | 231,629 |
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