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 |
|---|---|---|---|---|---|
Does the genetic variant at chromosome 1, position 99881519, impacting gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CTACTCGGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTCACATCATGTCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTGGTCTCAATAAATAAATAAATAAATAAATAAGCAAACAAAAAACAGGGAGAAAACCTAACAGAATTGTAGTGTTATGATTTACATTTAGTAATATGAAACTAACATTTTTCTTCTTCTTTTCCTCTCTCATGTCTCAATATCTTTGCAAAATCTAATCTTCCTTTTTAACCGTTTTCTTCTCTTGATAAATTCTCTTGTTTCTATGTGTTTT... | CTACTCGGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTCACATCATGTCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTGGTCTCAATAAATAAATAAATAAATAAATAAGCAAACAAAAAACAGGGAGAAAACCTAACAGAATTGTAGTGTTATGATTTACATTTAGTAATATGAAACTAACATTTTTCTTCTTCTTTTCCTCTCTCATGTCTCAATATCTTTGCAAAATCTAATCTTCCTTTTTAACCGTTTTCTTCTCTTGATAAATTCTCTTGTTTCTATGTGTTTT... | benign | 12,155 |
The genetic variant at chromosome 1, position 99881605, affecting gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease_type_III'] | CTGGGCAACAAGAGCGAAACTTGGTCTCAATAAATAAATAAATAAATAAATAAGCAAACAAAAAACAGGGAGAAAACCTAACAGAATTGTAGTGTTATGATTTACATTTAGTAATATGAAACTAACATTTTTCTTCTTCTTTTCCTCTCTCATGTCTCAATATCTTTGCAAAATCTAATCTTCCTTTTTAACCGTTTTCTTCTCTTGATAAATTCTCTTGTTTCTATGTGTTTTGGTATGTTTGATATCTTGCTGCATATTTTTCTATGTCAAATCATGCCTCCTTTTGTCTCTTTCCTTCCTCCTATCTTGCTTTTCTC... | CTGGGCAACAAGAGCGAAACTTGGTCTCAATAAATAAATAAATAAATAAATAAGCAAACAAAAAACAGGGAGAAAACCTAACAGAATTGTAGTGTTATGATTTACATTTAGTAATATGAAACTAACATTTTTCTTCTTCTTTTCCTCTCTCATGTCTCAATATCTTTGCAAAATCTAATCTTCCTTTTTAACCGTTTTCTTCTCTTGATAAATTCTCTTGTTTCTATGTGTTTTGGTATGTTTGATATCTTGCTGCATATTTTTCTATGTCAAATCATGCCTCCTTTTGTCTCTTTCCTTCCTCCTATCTTGCTTTTCTC... | pathogenic | 12,157 |
Does the variant impacting AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) on chromosome 1, position 99881660, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease_type_III'] | AAACAAAAAACAGGGAGAAAACCTAACAGAATTGTAGTGTTATGATTTACATTTAGTAATATGAAACTAACATTTTTCTTCTTCTTTTCCTCTCTCATGTCTCAATATCTTTGCAAAATCTAATCTTCCTTTTTAACCGTTTTCTTCTCTTGATAAATTCTCTTGTTTCTATGTGTTTTGGTATGTTTGATATCTTGCTGCATATTTTTCTATGTCAAATCATGCCTCCTTTTGTCTCTTTCCTTCCTCCTATCTTGCTTTTCTCTTTCTGTTACATTTATTTGTTACATTTGTCACTGTGCTTTTTACAGTACATGTTG... | AAACAAAAAACAGGGAGAAAACCTAACAGAATTGTAGTGTTATGATTTACATTTAGTAATATGAAACTAACATTTTTCTTCTTCTTTTCCTCTCTCATGTCTCAATATCTTTGCAAAATCTAATCTTCCTTTTTAACCGTTTTCTTCTCTTGATAAATTCTCTTGTTTCTATGTGTTTTGGTATGTTTGATATCTTGCTGCATATTTTTCTATGTCAAATCATGCCTCCTTTTGTCTCTTTCCTTCCTCCTATCTTGCTTTTCTCTTTCTGTTACATTTATTTGTTACATTTGTCACTGTGCTTTTTACAGTACATGTTG... | pathogenic | 12,158 |
The mutation impacting AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) on chromosome 1 at position 99884157: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease_type_III'] | ACTGGGTGATAGAGTGAGACCCTATCTCAAAAAAAAAAAAAAAAAAAGAAAGAAATTTTTGGCAACTTATATTTTTACTGCATGGAACAAAACCTAGACAGAAATACTTTCAAATGTTAACATTTTTTGAGTTGTGAAATATTTTTGTTTATATTTTATTTCCTAATTTGTGTAAAATGAACATTTATTTCTCTTCTAGCAGAACAATATGTATATTTGTGTTAGTGTATATGTATATATGTGTATAAATGTCTTTGTGTGTATATATGCACAAACATACATACAAACATGCGAACTAAAATGGAAAATAATATAACCTT... | ACTGGGTGATAGAGTGAGACCCTATCTCAAAAAAAAAAAAAAAAAAAGAAAGAAATTTTTGGCAACTTATATTTTTACTGCATGGAACAAAACCTAGACAGAAATACTTTCAAATGTTAACATTTTTTGAGTTGTGAAATATTTTTGTTTATATTTTATTTCCTAATTTGTGTAAAATGAACATTTATTTCTCTTCTAGCAGAACAATATGTATATTTGTGTTAGTGTATATGTATATATGTGTATAAATGTCTTTGTGTGTATATATGCACAAACATACATACAAACATGCGAACTAAAATGGAAAATAATATAACCTT... | pathogenic | 12,163 |
A genetic variant on chromosome 1, position 99884157, affects the gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glycogen_storage_disease_type_III'] | ACTGGGTGATAGAGTGAGACCCTATCTCAAAAAAAAAAAAAAAAAAAGAAAGAAATTTTTGGCAACTTATATTTTTACTGCATGGAACAAAACCTAGACAGAAATACTTTCAAATGTTAACATTTTTTGAGTTGTGAAATATTTTTGTTTATATTTTATTTCCTAATTTGTGTAAAATGAACATTTATTTCTCTTCTAGCAGAACAATATGTATATTTGTGTTAGTGTATATGTATATATGTGTATAAATGTCTTTGTGTGTATATATGCACAAACATACATACAAACATGCGAACTAAAATGGAAAATAATATAACCTT... | ACTGGGTGATAGAGTGAGACCCTATCTCAAAAAAAAAAAAAAAAAAAGAAAGAAATTTTTGGCAACTTATATTTTTACTGCATGGAACAAAACCTAGACAGAAATACTTTCAAATGTTAACATTTTTTGAGTTGTGAAATATTTTTGTTTATATTTTATTTCCTAATTTGTGTAAAATGAACATTTATTTCTCTTCTAGCAGAACAATATGTATATTTGTGTTAGTGTATATGTATATATGTGTATAAATGTCTTTGTGTGTATATATGCACAAACATACATACAAACATGCGAACTAAAATGGAAAATAATATAACCTT... | pathogenic | 12,164 |
Evaluate the clinical significance of the mutation at chromosome 1, position 99884359 in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Glycogen_storage_disease_type_III'] | AACAATATGTATATTTGTGTTAGTGTATATGTATATATGTGTATAAATGTCTTTGTGTGTATATATGCACAAACATACATACAAACATGCGAACTAAAATGGAAAATAATATAACCTTATGTTTAAGGCTTTTCATAATCCATTCTCATCCACCATCCTAGCCCTATGTCAGTCCACTATTTCAGCCAAATAGATATTTTTACTTCTCCCCAAATACTATGCGAATTGTCTGGATCTTTCAAGGTCTAAAGTTGCACCTCCTTTGTTCAGTGATTCTTCTGAACATGTAGCAATTATAGTCTCTATGTATTCCTCTAGCA... | AACAATATGTATATTTGTGTTAGTGTATATGTATATATGTGTATAAATGTCTTTGTGTGTATATATGCACAAACATACATACAAACATGCGAACTAAAATGGAAAATAATATAACCTTATGTTTAAGGCTTTTCATAATCCATTCTCATCCACCATCCTAGCCCTATGTCAGTCCACTATTTCAGCCAAATAGATATTTTTACTTCTCCCCAAATACTATGCGAATTGTCTGGATCTTTCAAGGTCTAAAGTTGCACCTCCTTTGTTCAGTGATTCTTCTGAACATGTAGCAATTATAGTCTCTATGTATTCCTCTAGCA... | pathogenic | 12,165 |
Classify the chromosome 1 variant at position 99884441 affecting gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Glycogen_storage_disease_type_III'] | AAACATGCGAACTAAAATGGAAAATAATATAACCTTATGTTTAAGGCTTTTCATAATCCATTCTCATCCACCATCCTAGCCCTATGTCAGTCCACTATTTCAGCCAAATAGATATTTTTACTTCTCCCCAAATACTATGCGAATTGTCTGGATCTTTCAAGGTCTAAAGTTGCACCTCCTTTGTTCAGTGATTCTTCTGAACATGTAGCAATTATAGTCTCTATGTATTCCTCTAGCATAGAGAGTCAAAAATTATAAAATACATCCCTGAGATATGTCCTTAATATTACTTGATTTTTTTCTGGATAGGTGTATTTTAT... | AAACATGCGAACTAAAATGGAAAATAATATAACCTTATGTTTAAGGCTTTTCATAATCCATTCTCATCCACCATCCTAGCCCTATGTCAGTCCACTATTTCAGCCAAATAGATATTTTTACTTCTCCCCAAATACTATGCGAATTGTCTGGATCTTTCAAGGTCTAAAGTTGCACCTCCTTTGTTCAGTGATTCTTCTGAACATGTAGCAATTATAGTCTCTATGTATTCCTCTAGCATAGAGAGTCAAAAATTATAAAATACATCCCTGAGATATGTCCTTAATATTACTTGATTTTTTTCTGGATAGGTGTATTTTAT... | pathogenic | 12,167 |
Classify the chromosome 1 variant at position 99884690 affecting gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Glycogen_storage_disease_type_III'] | AAATTATAAAATACATCCCTGAGATATGTCCTTAATATTACTTGATTTTTTTCTGGATAGGTGTATTTTATTGTCTTACTTACTATTATATGTGGCATATTACAGCATAGCATGCTCCTGTTCATGCAGCAGCTGGCAAAGTTTGTTGATTGATTGACCAAATGAAAATTCCTATAAAAATCATCATATTCTATATTGGTTGCTAGTTGCTGAATATGCATAGTTCCGGTTTTTAAAAATTATCAACCTGAATACCTAAAAGTTTCTTTAATTGTTCACAAATGTATATTCACTATCCTTATCTGATCTTTGCTAATATA... | AAATTATAAAATACATCCCTGAGATATGTCCTTAATATTACTTGATTTTTTTCTGGATAGGTGTATTTTATTGTCTTACTTACTATTATATGTGGCATATTACAGCATAGCATGCTCCTGTTCATGCAGCAGCTGGCAAAGTTTGTTGATTGATTGACCAAATGAAAATTCCTATAAAAATCATCATATTCTATATTGGTTGCTAGTTGCTGAATATGCATAGTTCCGGTTTTTAAAAATTATCAACCTGAATACCTAAAAGTTTCTTTAATTGTTCACAAATGTATATTCACTATCCTTATCTGATCTTTGCTAATATA... | pathogenic | 12,174 |
Variant chromosome 1, position 99887985, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? Disease(s)? | pathogenic; ['Glycogen_storage_disease_type_III'] | AAACCAGTCCCTGGTGCCAAAAAGGACCATTGGGTTAGACTATATCCATATATTTGAGGCTGTTAATACATACTGCCAAATTTTCTCCAGAAAGATTATAATAATTAATACTTTCAGCTCTATCCAAGAGTTTCCATCATTAGCAATACTGAGTATATATTATTATAACGTAGTGTTTAAGGGCATGGAGTATAGAACCAGACTAACTGGATTTGAATTCCATTGCAGACTCTTATTAGCTATAAGAAGTAAGACCTGGCTGAGTGCAGTGGCTCACTCCTATAATCTCAGCACTTTGGTAGGCCAAGGTGGGAGGATTG... | AAACCAGTCCCTGGTGCCAAAAAGGACCATTGGGTTAGACTATATCCATATATTTGAGGCTGTTAATACATACTGCCAAATTTTCTCCAGAAAGATTATAATAATTAATACTTTCAGCTCTATCCAAGAGTTTCCATCATTAGCAATACTGAGTATATATTATTATAACGTAGTGTTTAAGGGCATGGAGTATAGAACCAGACTAACTGGATTTGAATTCCATTGCAGACTCTTATTAGCTATAAGAAGTAAGACCTGGCTGAGTGCAGTGGCTCACTCCTATAATCTCAGCACTTTGGTAGGCCAAGGTGGGAGGATTG... | pathogenic | 12,180 |
Is the genetic change at chromosome 1, position 99891311, within gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease_type_III'] | TTTTATGCTTCTTGTCTTTTAGCTTTTATACTTTCTGCAAAACCAAGCACGTAAGCGGTTCTCAATAAACTTTTTTGAGACTTTTTGGATTTATGATCTTTTTTTCTAAAATATTCTCATTTTTAATACAAAATGTTTTGTGCTATGAGTAAGAAAGAAGTGTATGTGAGCCAGACATGGTGGCTTCCACCTGTAATCTCATGCTTTGGGAGGCCACAGCAGGAGGATCACTTGAGCCCAAGAGAGGTTTGAGGCTGCAGTGAACTATGATCATGCCAATGCCCTCCAGCCTGGGTGACAGAGTGAGACTGTCTCAAAAA... | TTTTATGCTTCTTGTCTTTTAGCTTTTATACTTTCTGCAAAACCAAGCACGTAAGCGGTTCTCAATAAACTTTTTTGAGACTTTTTGGATTTATGATCTTTTTTTCTAAAATATTCTCATTTTTAATACAAAATGTTTTGTGCTATGAGTAAGAAAGAAGTGTATGTGAGCCAGACATGGTGGCTTCCACCTGTAATCTCATGCTTTGGGAGGCCACAGCAGGAGGATCACTTGAGCCCAAGAGAGGTTTGAGGCTGCAGTGAACTATGATCATGCCAATGCCCTCCAGCCTGGGTGACAGAGTGAGACTGTCTCAAAAA... | pathogenic | 12,191 |
Gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) variant at chromosome position 99891649 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease_type_III'] | TTAATTAATTTTTAAAAGATGTATGTATGTTATCAGATTTGAGTAATTATCTACTTCATTTTCACTCTGAGTTGTTAAACTACTTCTAGTTCACTACAAAGACCAAACTTGTGTGTGCTCTTTTTCTAGCCTTTGTCTTTCTTATAGTTAAGTTTGGTTCTTTGCTAATTCTCCTTATCTTTCTAATGAAATGATTCTTCTTATCTTTTCTAAATAGAATTGCCTTTACCTGTTTATTTTTTGCTGCTTTATACCAATCCCTTTTCCCTCTGATTGTTTAATATTTTCAGCAGGCCACATATTTCCAGCAGGCTGCTAAT... | TTAATTAATTTTTAAAAGATGTATGTATGTTATCAGATTTGAGTAATTATCTACTTCATTTTCACTCTGAGTTGTTAAACTACTTCTAGTTCACTACAAAGACCAAACTTGTGTGTGCTCTTTTTCTAGCCTTTGTCTTTCTTATAGTTAAGTTTGGTTCTTTGCTAATTCTCCTTATCTTTCTAATGAAATGATTCTTCTTATCTTTTCTAAATAGAATTGCCTTTACCTGTTTATTTTTTGCTGCTTTATACCAATCCCTTTTCCCTCTGATTGTTTAATATTTTCAGCAGGCCACATATTTCCAGCAGGCTGCTAAT... | pathogenic | 12,199 |
Clinical significance of chromosome 1, position 99891664, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease_type_III'] | AAGATGTATGTATGTTATCAGATTTGAGTAATTATCTACTTCATTTTCACTCTGAGTTGTTAAACTACTTCTAGTTCACTACAAAGACCAAACTTGTGTGTGCTCTTTTTCTAGCCTTTGTCTTTCTTATAGTTAAGTTTGGTTCTTTGCTAATTCTCCTTATCTTTCTAATGAAATGATTCTTCTTATCTTTTCTAAATAGAATTGCCTTTACCTGTTTATTTTTTGCTGCTTTATACCAATCCCTTTTCCCTCTGATTGTTTAATATTTTCAGCAGGCCACATATTTCCAGCAGGCTGCTAATAAGAGCCTCAGATTA... | AAGATGTATGTATGTTATCAGATTTGAGTAATTATCTACTTCATTTTCACTCTGAGTTGTTAAACTACTTCTAGTTCACTACAAAGACCAAACTTGTGTGTGCTCTTTTTCTAGCCTTTGTCTTTCTTATAGTTAAGTTTGGTTCTTTGCTAATTCTCCTTATCTTTCTAATGAAATGATTCTTCTTATCTTTTCTAAATAGAATTGCCTTTACCTGTTTATTTTTTGCTGCTTTATACCAATCCCTTTTCCCTCTGATTGTTTAATATTTTCAGCAGGCCACATATTTCCAGCAGGCTGCTAATAAGAGCCTCAGATTA... | pathogenic | 12,200 |
Regarding the variant found on chromosome 1 at position 99891669 in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | GTATGTATGTTATCAGATTTGAGTAATTATCTACTTCATTTTCACTCTGAGTTGTTAAACTACTTCTAGTTCACTACAAAGACCAAACTTGTGTGTGCTCTTTTTCTAGCCTTTGTCTTTCTTATAGTTAAGTTTGGTTCTTTGCTAATTCTCCTTATCTTTCTAATGAAATGATTCTTCTTATCTTTTCTAAATAGAATTGCCTTTACCTGTTTATTTTTTGCTGCTTTATACCAATCCCTTTTCCCTCTGATTGTTTAATATTTTCAGCAGGCCACATATTTCCAGCAGGCTGCTAATAAGAGCCTCAGATTAAATCA... | GTATGTATGTTATCAGATTTGAGTAATTATCTACTTCATTTTCACTCTGAGTTGTTAAACTACTTCTAGTTCACTACAAAGACCAAACTTGTGTGTGCTCTTTTTCTAGCCTTTGTCTTTCTTATAGTTAAGTTTGGTTCTTTGCTAATTCTCCTTATCTTTCTAATGAAATGATTCTTCTTATCTTTTCTAAATAGAATTGCCTTTACCTGTTTATTTTTTGCTGCTTTATACCAATCCCTTTTCCCTCTGATTGTTTAATATTTTCAGCAGGCCACATATTTCCAGCAGGCTGCTAATAAGAGCCTCAGATTAAATCA... | pathogenic | 12,201 |
Gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) variant at chromosome position 99892435 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease_type_III'] | TCTTTATGTTTTAAGCTTTCTTCCCCAGAGAAGATTGTGAGCCCCTTGAGGGAAAGAACTTTATCTTAAATTTATATAGTTTTTAGTTTCTCAAAACATGCTACATACCTAGTAAAATTCATGCAATTCTAAATAGATAAATAAATTTAGTCTAAATGAAGTCAGTGATGCCAATATAATTTTTAAGGTAGCATCATTGAAATAATAAAATCTGGGAAATTCTAATGCTTCTAATTGAAGACTAGAAGGATTAAGAAAAAAAAAATATATATATATATACCTCATTTTGATACTTCACTTAGTTCTAAGTACCTCCTGTT... | TCTTTATGTTTTAAGCTTTCTTCCCCAGAGAAGATTGTGAGCCCCTTGAGGGAAAGAACTTTATCTTAAATTTATATAGTTTTTAGTTTCTCAAAACATGCTACATACCTAGTAAAATTCATGCAATTCTAAATAGATAAATAAATTTAGTCTAAATGAAGTCAGTGATGCCAATATAATTTTTAAGGTAGCATCATTGAAATAATAAAATCTGGGAAATTCTAATGCTTCTAATTGAAGACTAGAAGGATTAAGAAAAAAAAAATATATATATATATACCTCATTTTGATACTTCACTTAGTTCTAAGTACCTCCTGTT... | pathogenic | 12,204 |
Located at chromosome 1 position 99892561, the variant affecting gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glycogen_storage_disease_IIIa', 'Glycogen_storage_disease_type_III'] | TTCTAAATAGATAAATAAATTTAGTCTAAATGAAGTCAGTGATGCCAATATAATTTTTAAGGTAGCATCATTGAAATAATAAAATCTGGGAAATTCTAATGCTTCTAATTGAAGACTAGAAGGATTAAGAAAAAAAAAATATATATATATATACCTCATTTTGATACTTCACTTAGTTCTAAGTACCTCCTGTTAAATTTTAACAATTCCTTCCAAAGCATGCTTTATTCTTATTATCTCCATAGGTGTTCTTGCTCTTTCTGAAACCAGTTCTATGACTTCCTTAAATCTAGCCTGAATACTGATGAACCCACTACTTT... | TTCTAAATAGATAAATAAATTTAGTCTAAATGAAGTCAGTGATGCCAATATAATTTTTAAGGTAGCATCATTGAAATAATAAAATCTGGGAAATTCTAATGCTTCTAATTGAAGACTAGAAGGATTAAGAAAAAAAAAATATATATATATATACCTCATTTTGATACTTCACTTAGTTCTAAGTACCTCCTGTTAAATTTTAACAATTCCTTCCAAAGCATGCTTTATTCTTATTATCTCCATAGGTGTTCTTGCTCTTTCTGAAACCAGTTCTATGACTTCCTTAAATCTAGCCTGAATACTGATGAACCCACTACTTT... | pathogenic | 12,209 |
The mutation in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) at chromosome 1, position 99892574—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | AATAAATTTAGTCTAAATGAAGTCAGTGATGCCAATATAATTTTTAAGGTAGCATCATTGAAATAATAAAATCTGGGAAATTCTAATGCTTCTAATTGAAGACTAGAAGGATTAAGAAAAAAAAAATATATATATATATACCTCATTTTGATACTTCACTTAGTTCTAAGTACCTCCTGTTAAATTTTAACAATTCCTTCCAAAGCATGCTTTATTCTTATTATCTCCATAGGTGTTCTTGCTCTTTCTGAAACCAGTTCTATGACTTCCTTAAATCTAGCCTGAATACTGATGAACCCACTACTTTTCAACATGAAAAA... | AATAAATTTAGTCTAAATGAAGTCAGTGATGCCAATATAATTTTTAAGGTAGCATCATTGAAATAATAAAATCTGGGAAATTCTAATGCTTCTAATTGAAGACTAGAAGGATTAAGAAAAAAAAAATATATATATATATACCTCATTTTGATACTTCACTTAGTTCTAAGTACCTCCTGTTAAATTTTAACAATTCCTTCCAAAGCATGCTTTATTCTTATTATCTCCATAGGTGTTCTTGCTCTTTCTGAAACCAGTTCTATGACTTCCTTAAATCTAGCCTGAATACTGATGAACCCACTACTTTTCAACATGAAAAA... | pathogenic | 12,210 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 99896270, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): what disease(s) if pathogenic? | benign | TTGACAAATTAGAAATCACTTAGAAGATATGGAATCTATTAGTTGTGTACTCTTAGAGGTCAAAAAGTTAATACAAACATTTCCATACATAGTGCTAGAGATTTTATAGTTTTGACTTTTTCACAAAGACAGACCGCATATATTTTTGGATATACCGATTCAGACTCACCTTTGAATCTACCTGTATTCATGTTTCATACAAGGAATTAAATGGGTCAGAGTACCAGGAAGTGTGTATGGCACAGAGTGCTATATATATGTTAGCTGCTGTCATCACTATCATCAAAATTAATATCATGTATATATCAACCATATATAAA... | TTGACAAATTAGAAATCACTTAGAAGATATGGAATCTATTAGTTGTGTACTCTTAGAGGTCAAAAAGTTAATACAAACATTTCCATACATAGTGCTAGAGATTTTATAGTTTTGACTTTTTCACAAAGACAGACCGCATATATTTTTGGATATACCGATTCAGACTCACCTTTGAATCTACCTGTATTCATGTTTCATACAAGGAATTAAATGGGTCAGAGTACCAGGAAGTGTGTATGGCACAGAGTGCTATATATATGTTAGCTGCTGTCATCACTATCATCAAAATTAATATCATGTATATATCAACCATATATAAA... | benign | 12,216 |
Does the variant on chromosome 1 at location 99896321 affecting gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Glycogen_storage_disease_type_III'] | CTTAGAGGTCAAAAAGTTAATACAAACATTTCCATACATAGTGCTAGAGATTTTATAGTTTTGACTTTTTCACAAAGACAGACCGCATATATTTTTGGATATACCGATTCAGACTCACCTTTGAATCTACCTGTATTCATGTTTCATACAAGGAATTAAATGGGTCAGAGTACCAGGAAGTGTGTATGGCACAGAGTGCTATATATATGTTAGCTGCTGTCATCACTATCATCAAAATTAATATCATGTATATATCAACCATATATAAACCATATTAATCATAAATAAATAATACACAGTGTATTTGGGGAAATTTTGTA... | CTTAGAGGTCAAAAAGTTAATACAAACATTTCCATACATAGTGCTAGAGATTTTATAGTTTTGACTTTTTCACAAAGACAGACCGCATATATTTTTGGATATACCGATTCAGACTCACCTTTGAATCTACCTGTATTCATGTTTCATACAAGGAATTAAATGGGTCAGAGTACCAGGAAGTGTGTATGGCACAGAGTGCTATATATATGTTAGCTGCTGTCATCACTATCATCAAAATTAATATCATGTATATATCAACCATATATAAACCATATTAATCATAAATAAATAATACACAGTGTATTTGGGGAAATTTTGTA... | pathogenic | 12,217 |
The mutation impacting AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) on chromosome 1 at position 99896375: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease_type_III'] | ATAGTTTTGACTTTTTCACAAAGACAGACCGCATATATTTTTGGATATACCGATTCAGACTCACCTTTGAATCTACCTGTATTCATGTTTCATACAAGGAATTAAATGGGTCAGAGTACCAGGAAGTGTGTATGGCACAGAGTGCTATATATATGTTAGCTGCTGTCATCACTATCATCAAAATTAATATCATGTATATATCAACCATATATAAACCATATTAATCATAAATAAATAATACACAGTGTATTTGGGGAAATTTTGTACCGTCATTTTGGAGACAACATAGGTAGGAAAAAGGTCTAATTCTTATCTTTCTT... | ATAGTTTTGACTTTTTCACAAAGACAGACCGCATATATTTTTGGATATACCGATTCAGACTCACCTTTGAATCTACCTGTATTCATGTTTCATACAAGGAATTAAATGGGTCAGAGTACCAGGAAGTGTGTATGGCACAGAGTGCTATATATATGTTAGCTGCTGTCATCACTATCATCAAAATTAATATCATGTATATATCAACCATATATAAACCATATTAATCATAAATAAATAATACACAGTGTATTTGGGGAAATTTTGTACCGTCATTTTGGAGACAACATAGGTAGGAAAAAGGTCTAATTCTTATCTTTCTT... | pathogenic | 12,220 |
Is the chromosome 1, position 99900816 variant in AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Glycogen_storage_disease_type_III'] | ATACACTTAACATGCATCAGTTCTGGCCACAACCAACTGTAAGATTGGTTGTGAATTGTAGGAAATTCGTTTTAGTGGACATATACCTCTACCACAGATGGTTCTACTTCCTCCCTCTATAGAGGTAATCATGAATCAGAAGTCGTTTTATTAAAATGTACAAGATTGTTCCAGATGGTTAAGATTGCTAGCACTATGGCCAGGCATGGTGGCTCACAACTGTAATCAGCACTTTGGGAGCCTGAGGCGGGCAGATTGCTTGAGTCCACAAGTTCAAGACCAGCCTGGGCAACAGGGTCTCTTAAAAAAACAAATATATA... | ATACACTTAACATGCATCAGTTCTGGCCACAACCAACTGTAAGATTGGTTGTGAATTGTAGGAAATTCGTTTTAGTGGACATATACCTCTACCACAGATGGTTCTACTTCCTCCCTCTATAGAGGTAATCATGAATCAGAAGTCGTTTTATTAAAATGTACAAGATTGTTCCAGATGGTTAAGATTGCTAGCACTATGGCCAGGCATGGTGGCTCACAACTGTAATCAGCACTTTGGGAGCCTGAGGCGGGCAGATTGCTTGAGTCCACAAGTTCAAGACCAGCCTGGGCAACAGGGTCTCTTAAAAAAACAAATATATA... | pathogenic | 12,227 |
Variant on chromosome 1, at position 99900826, affecting AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | CATGCATCAGTTCTGGCCACAACCAACTGTAAGATTGGTTGTGAATTGTAGGAAATTCGTTTTAGTGGACATATACCTCTACCACAGATGGTTCTACTTCCTCCCTCTATAGAGGTAATCATGAATCAGAAGTCGTTTTATTAAAATGTACAAGATTGTTCCAGATGGTTAAGATTGCTAGCACTATGGCCAGGCATGGTGGCTCACAACTGTAATCAGCACTTTGGGAGCCTGAGGCGGGCAGATTGCTTGAGTCCACAAGTTCAAGACCAGCCTGGGCAACAGGGTCTCTTAAAAAAACAAATATATATGTATATATA... | CATGCATCAGTTCTGGCCACAACCAACTGTAAGATTGGTTGTGAATTGTAGGAAATTCGTTTTAGTGGACATATACCTCTACCACAGATGGTTCTACTTCCTCCCTCTATAGAGGTAATCATGAATCAGAAGTCGTTTTATTAAAATGTACAAGATTGTTCCAGATGGTTAAGATTGCTAGCACTATGGCCAGGCATGGTGGCTCACAACTGTAATCAGCACTTTGGGAGCCTGAGGCGGGCAGATTGCTTGAGTCCACAAGTTCAAGACCAGCCTGGGCAACAGGGTCTCTTAAAAAAACAAATATATATGTATATATA... | pathogenic | 12,228 |
Regarding the variant found on chromosome 1 at position 99900858 in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | GATTGGTTGTGAATTGTAGGAAATTCGTTTTAGTGGACATATACCTCTACCACAGATGGTTCTACTTCCTCCCTCTATAGAGGTAATCATGAATCAGAAGTCGTTTTATTAAAATGTACAAGATTGTTCCAGATGGTTAAGATTGCTAGCACTATGGCCAGGCATGGTGGCTCACAACTGTAATCAGCACTTTGGGAGCCTGAGGCGGGCAGATTGCTTGAGTCCACAAGTTCAAGACCAGCCTGGGCAACAGGGTCTCTTAAAAAAACAAATATATATGTATATATAGAGAGAGCTAGTATTCTGACCTTTTCTTAATT... | GATTGGTTGTGAATTGTAGGAAATTCGTTTTAGTGGACATATACCTCTACCACAGATGGTTCTACTTCCTCCCTCTATAGAGGTAATCATGAATCAGAAGTCGTTTTATTAAAATGTACAAGATTGTTCCAGATGGTTAAGATTGCTAGCACTATGGCCAGGCATGGTGGCTCACAACTGTAATCAGCACTTTGGGAGCCTGAGGCGGGCAGATTGCTTGAGTCCACAAGTTCAAGACCAGCCTGGGCAACAGGGTCTCTTAAAAAAACAAATATATATGTATATATAGAGAGAGCTAGTATTCTGACCTTTTCTTAATT... | pathogenic | 12,229 |
A mutation at chromosome position 99902719 on chromosome 1 in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Glycogen_storage_disease_type_III'] | ATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGTAAAGATATTTCTTAAAATGTTTTTTTGTTTTTTTTTTTTTTTCTGAAAAATGACTTTTAGTTTCTAATGTAAAAATAAGGGTAATTAAGAATCCAAATCTTACGAATTATTCAAATGTCAGTATTGA... | ATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGTAAAGATATTTCTTAAAATGTTTTTTTGTTTTTTTTTTTTTTTCTGAAAAATGACTTTTAGTTTCTAATGTAAAAATAAGGGTAATTAAGAATCCAAATCTTACGAATTATTCAAATGTCAGTATTGA... | pathogenic | 12,237 |
Variant at chromosome position 99902754, chromosome 1, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Glycogen_storage_disease_type_III'] | TATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGTAAAGATATTTCTTAAAATGTTTTTTTGTTTTTTTTTTTTTTTCTGAAAAATGACTTTTAGTTTCTAATGTAAAAATAAGGGTAATTAAGAATCCAAATCTTACGAATTATTCAAATGTCAGTATTGATTTGGCACCTGCTGGTACTATAAGTGATTGGTCTT... | TATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGTAAAGATATTTCTTAAAATGTTTTTTTGTTTTTTTTTTTTTTTCTGAAAAATGACTTTTAGTTTCTAATGTAAAAATAAGGGTAATTAAGAATCCAAATCTTACGAATTATTCAAATGTCAGTATTGATTTGGCACCTGCTGGTACTATAAGTGATTGGTCTT... | pathogenic | 12,239 |
The mutation in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) at chromosome 1, position 99910782—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | CTGGATCCTATGAAATCTTTCATTTTACCAAGTAGCCGTTATTTAAGTTTAGTATGCAGCTTCTGGCCTACTCTTGTGGGCTGTGGTTTCAGTAACAATTTAATATTTAGCAAGGTTATTCTGGTCTACTTCATTCATGGGCTATCAGGAGGCCACTCAGGAAACCTGAGTGGAGTTCCACACTGTGTAATTTACTTCTCAAACCTTTGGGTGTGTTAATGCTCATCTGTTTCACATGTAGATTGGTCAGAGCCTGCCCAGGACTTCCTATACAGCTTTAAAGCGTGGTTTTCCAGCTTCCTCCTCTTCAGATCTTCCCT... | CTGGATCCTATGAAATCTTTCATTTTACCAAGTAGCCGTTATTTAAGTTTAGTATGCAGCTTCTGGCCTACTCTTGTGGGCTGTGGTTTCAGTAACAATTTAATATTTAGCAAGGTTATTCTGGTCTACTTCATTCATGGGCTATCAGGAGGCCACTCAGGAAACCTGAGTGGAGTTCCACACTGTGTAATTTACTTCTCAAACCTTTGGGTGTGTTAATGCTCATCTGTTTCACATGTAGATTGGTCAGAGCCTGCCCAGGACTTCCTATACAGCTTTAAAGCGTGGTTTTCCAGCTTCCTCCTCTTCAGATCTTCCCT... | pathogenic | 12,247 |
Is the genetic change at chromosome 1, position 99910817, within gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease_type_III'] | CCGTTATTTAAGTTTAGTATGCAGCTTCTGGCCTACTCTTGTGGGCTGTGGTTTCAGTAACAATTTAATATTTAGCAAGGTTATTCTGGTCTACTTCATTCATGGGCTATCAGGAGGCCACTCAGGAAACCTGAGTGGAGTTCCACACTGTGTAATTTACTTCTCAAACCTTTGGGTGTGTTAATGCTCATCTGTTTCACATGTAGATTGGTCAGAGCCTGCCCAGGACTTCCTATACAGCTTTAAAGCGTGGTTTTCCAGCTTCCTCCTCTTCAGATCTTCCCTGAAATCTCTAGTTGGGAGTGTGAGGGGCACCCCAT... | CCGTTATTTAAGTTTAGTATGCAGCTTCTGGCCTACTCTTGTGGGCTGTGGTTTCAGTAACAATTTAATATTTAGCAAGGTTATTCTGGTCTACTTCATTCATGGGCTATCAGGAGGCCACTCAGGAAACCTGAGTGGAGTTCCACACTGTGTAATTTACTTCTCAAACCTTTGGGTGTGTTAATGCTCATCTGTTTCACATGTAGATTGGTCAGAGCCTGCCCAGGACTTCCTATACAGCTTTAAAGCGTGGTTTTCCAGCTTCCTCCTCTTCAGATCTTCCCTGAAATCTCTAGTTGGGAGTGTGAGGGGCACCCCAT... | pathogenic | 12,249 |
Evaluate if the mutation on chromosome 1 at position 99910824 in AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease_type_III'] | TTAAGTTTAGTATGCAGCTTCTGGCCTACTCTTGTGGGCTGTGGTTTCAGTAACAATTTAATATTTAGCAAGGTTATTCTGGTCTACTTCATTCATGGGCTATCAGGAGGCCACTCAGGAAACCTGAGTGGAGTTCCACACTGTGTAATTTACTTCTCAAACCTTTGGGTGTGTTAATGCTCATCTGTTTCACATGTAGATTGGTCAGAGCCTGCCCAGGACTTCCTATACAGCTTTAAAGCGTGGTTTTCCAGCTTCCTCCTCTTCAGATCTTCCCTGAAATCTCTAGTTGGGAGTGTGAGGGGCACCCCATCACTGCT... | TTAAGTTTAGTATGCAGCTTCTGGCCTACTCTTGTGGGCTGTGGTTTCAGTAACAATTTAATATTTAGCAAGGTTATTCTGGTCTACTTCATTCATGGGCTATCAGGAGGCCACTCAGGAAACCTGAGTGGAGTTCCACACTGTGTAATTTACTTCTCAAACCTTTGGGTGTGTTAATGCTCATCTGTTTCACATGTAGATTGGTCAGAGCCTGCCCAGGACTTCCTATACAGCTTTAAAGCGTGGTTTTCCAGCTTCCTCCTCTTCAGATCTTCCCTGAAATCTCTAGTTGGGAGTGTGAGGGGCACCCCATCACTGCT... | pathogenic | 12,250 |
Clinical significance of chromosome 1, position 99912471, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease_type_III'] | AATGCAAGCAATGTGGCAGTGAATATCCTTGTACACATCTCCATGTGCACATAAGTAAGGGTTTCTCTAGAATATATATAGAAATGAAATTCCTATGTGGTAGAATATACACATCTCCAACTTTGTGCTTGTATATTCTGGATACAAAATAATAAGATACCACCAAACTGAGCTTTAGAGTGGTTGTCCTAGTTTATTATATTTAAAATTTTGTAAATGTTTTAAAATATTTGTATATACTATATATAATACTTATAAAATTTTATTTTATACACATTTTGTTTTTTAGGTTTTAATATAACTGCAGGAGTTGATGAAGA... | AATGCAAGCAATGTGGCAGTGAATATCCTTGTACACATCTCCATGTGCACATAAGTAAGGGTTTCTCTAGAATATATATAGAAATGAAATTCCTATGTGGTAGAATATACACATCTCCAACTTTGTGCTTGTATATTCTGGATACAAAATAATAAGATACCACCAAACTGAGCTTTAGAGTGGTTGTCCTAGTTTATTATATTTAAAATTTTGTAAATGTTTTAAAATATTTGTATATACTATATATAATACTTATAAAATTTTATTTTATACACATTTTGTTTTTTAGGTTTTAATATAACTGCAGGAGTTGATGAAGA... | pathogenic | 12,255 |
Chromosome 1, position 99912471, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glycogen_storage_disease_type_III'] | AATGCAAGCAATGTGGCAGTGAATATCCTTGTACACATCTCCATGTGCACATAAGTAAGGGTTTCTCTAGAATATATATAGAAATGAAATTCCTATGTGGTAGAATATACACATCTCCAACTTTGTGCTTGTATATTCTGGATACAAAATAATAAGATACCACCAAACTGAGCTTTAGAGTGGTTGTCCTAGTTTATTATATTTAAAATTTTGTAAATGTTTTAAAATATTTGTATATACTATATATAATACTTATAAAATTTTATTTTATACACATTTTGTTTTTTAGGTTTTAATATAACTGCAGGAGTTGATGAAGA... | AATGCAAGCAATGTGGCAGTGAATATCCTTGTACACATCTCCATGTGCACATAAGTAAGGGTTTCTCTAGAATATATATAGAAATGAAATTCCTATGTGGTAGAATATACACATCTCCAACTTTGTGCTTGTATATTCTGGATACAAAATAATAAGATACCACCAAACTGAGCTTTAGAGTGGTTGTCCTAGTTTATTATATTTAAAATTTTGTAAATGTTTTAAAATATTTGTATATACTATATATAATACTTATAAAATTTTATTTTATACACATTTTGTTTTTTAGGTTTTAATATAACTGCAGGAGTTGATGAAGA... | pathogenic | 12,256 |
Variant in AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase), chromosome 1, position 99913541—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glycogen_storage_disease_IIIa', 'Glycogen_storage_disease_type_III'] | AGTGCAGTAGCACAATCATGGCTCACTGCAGCCTCTGTCTCCCAGATTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTACCTGGGGACTACAGGCGCACACTACCAGACAGGCTAATTTTTGTATTTTTAGTGAAGACGAGGTTTCACCATGTTGGCCAGGCTGATCTCAAATTTTTGGCCTTAAATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGAAATGAGCCACTGCACTCGGCCTTTTATTCTAAATTTTATCTTCAGTAAGAATTGTCCAAAAAATAGTTGTGTACTGGGTGTGGTAGCTGAC... | AGTGCAGTAGCACAATCATGGCTCACTGCAGCCTCTGTCTCCCAGATTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTACCTGGGGACTACAGGCGCACACTACCAGACAGGCTAATTTTTGTATTTTTAGTGAAGACGAGGTTTCACCATGTTGGCCAGGCTGATCTCAAATTTTTGGCCTTAAATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGAAATGAGCCACTGCACTCGGCCTTTTATTCTAAATTTTATCTTCAGTAAGAATTGTCCAAAAAATAGTTGTGTACTGGGTGTGGTAGCTGAC... | pathogenic | 12,258 |
Is the genetic mutation found on chromosome 1 at position 99913545, within the gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | CAGTAGCACAATCATGGCTCACTGCAGCCTCTGTCTCCCAGATTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTACCTGGGGACTACAGGCGCACACTACCAGACAGGCTAATTTTTGTATTTTTAGTGAAGACGAGGTTTCACCATGTTGGCCAGGCTGATCTCAAATTTTTGGCCTTAAATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGAAATGAGCCACTGCACTCGGCCTTTTATTCTAAATTTTATCTTCAGTAAGAATTGTCCAAAAAATAGTTGTGTACTGGGTGTGGTAGCTGACGTCT... | CAGTAGCACAATCATGGCTCACTGCAGCCTCTGTCTCCCAGATTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTACCTGGGGACTACAGGCGCACACTACCAGACAGGCTAATTTTTGTATTTTTAGTGAAGACGAGGTTTCACCATGTTGGCCAGGCTGATCTCAAATTTTTGGCCTTAAATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGAAATGAGCCACTGCACTCGGCCTTTTATTCTAAATTTTATCTTCAGTAAGAATTGTCCAAAAAATAGTTGTGTACTGGGTGTGGTAGCTGACGTCT... | pathogenic | 12,259 |
Clinically, how would you classify the variant at chromosome 1, position 99913675, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Glycogen_storage_disease_type_III'] | AAGACGAGGTTTCACCATGTTGGCCAGGCTGATCTCAAATTTTTGGCCTTAAATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGAAATGAGCCACTGCACTCGGCCTTTTATTCTAAATTTTATCTTCAGTAAGAATTGTCCAAAAAATAGTTGTGTACTGGGTGTGGTAGCTGACGTCTGTAATCTCAACACTTTGGGAGGTTGGGAGGTTGAGGTGGGAGGATAGCTTGAACCCAGGAGTTTGAAACCAGCTTGGGCAACATAGTGAGGCCCCATCTCTACAAAAAATAATTAATAAATAAGTTGCCA... | AAGACGAGGTTTCACCATGTTGGCCAGGCTGATCTCAAATTTTTGGCCTTAAATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGAAATGAGCCACTGCACTCGGCCTTTTATTCTAAATTTTATCTTCAGTAAGAATTGTCCAAAAAATAGTTGTGTACTGGGTGTGGTAGCTGACGTCTGTAATCTCAACACTTTGGGAGGTTGGGAGGTTGAGGTGGGAGGATAGCTTGAACCCAGGAGTTTGAAACCAGCTTGGGCAACATAGTGAGGCCCCATCTCTACAAAAAATAATTAATAAATAAGTTGCCA... | pathogenic | 12,262 |
Assess the variant on chromosome 1, position 99915389, impacting AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | TTCATAATCCAGCTTATATTTTACATTTATAACACATCTCAATTCAGACTGGCCACATTTTCCAAAAGTGGATAATTTATTGCCTTGTAGTAGATAAAAATAAACTAAATATTACTATTTGTCTGTAACTAGATGTGTGAATTGTTTTGAATGATTAAAACTACCATGTCTTATGTCATTTTTCAGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATA... | TTCATAATCCAGCTTATATTTTACATTTATAACACATCTCAATTCAGACTGGCCACATTTTCCAAAAGTGGATAATTTATTGCCTTGTAGTAGATAAAAATAAACTAAATATTACTATTTGTCTGTAACTAGATGTGTGAATTGTTTTGAATGATTAAAACTACCATGTCTTATGTCATTTTTCAGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATA... | pathogenic | 12,271 |
Determine whether the variant at chromosome 1, position 99915421, in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | CACATCTCAATTCAGACTGGCCACATTTTCCAAAAGTGGATAATTTATTGCCTTGTAGTAGATAAAAATAAACTAAATATTACTATTTGTCTGTAACTAGATGTGTGAATTGTTTTGAATGATTAAAACTACCATGTCTTATGTCATTTTTCAGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAGCTTCAAGTCCTTG... | CACATCTCAATTCAGACTGGCCACATTTTCCAAAAGTGGATAATTTATTGCCTTGTAGTAGATAAAAATAAACTAAATATTACTATTTGTCTGTAACTAGATGTGTGAATTGTTTTGAATGATTAAAACTACCATGTCTTATGTCATTTTTCAGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAGCTTCAAGTCCTTG... | pathogenic | 12,274 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 99915440, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): what disease(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease_type_III'] | GCCACATTTTCCAAAAGTGGATAATTTATTGCCTTGTAGTAGATAAAAATAAACTAAATATTACTATTTGTCTGTAACTAGATGTGTGAATTGTTTTGAATGATTAAAACTACCATGTCTTATGTCATTTTTCAGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGG... | GCCACATTTTCCAAAAGTGGATAATTTATTGCCTTGTAGTAGATAAAAATAAACTAAATATTACTATTTGTCTGTAACTAGATGTGTGAATTGTTTTGAATGATTAAAACTACCATGTCTTATGTCATTTTTCAGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGG... | pathogenic | 12,275 |
Clinical significance of chromosome 1, position 99915440, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease_type_III'] | GCCACATTTTCCAAAAGTGGATAATTTATTGCCTTGTAGTAGATAAAAATAAACTAAATATTACTATTTGTCTGTAACTAGATGTGTGAATTGTTTTGAATGATTAAAACTACCATGTCTTATGTCATTTTTCAGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGG... | GCCACATTTTCCAAAAGTGGATAATTTATTGCCTTGTAGTAGATAAAAATAAACTAAATATTACTATTTGTCTGTAACTAGATGTGTGAATTGTTTTGAATGATTAAAACTACCATGTCTTATGTCATTTTTCAGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGG... | pathogenic | 12,276 |
Clinical significance of chromosome 1, position 99915481, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease_type_III'] | GATAAAAATAAACTAAATATTACTATTTGTCTGTAACTAGATGTGTGAATTGTTTTGAATGATTAAAACTACCATGTCTTATGTCATTTTTCAGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGTAGGTGATTCGTT... | GATAAAAATAAACTAAATATTACTATTTGTCTGTAACTAGATGTGTGAATTGTTTTGAATGATTAAAACTACCATGTCTTATGTCATTTTTCAGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGTAGGTGATTCGTT... | pathogenic | 12,277 |
Chromosome 1, position 99916470, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | ATACTTTAGTCTAAAAATAAACTACAAGGAAGTAAAATAGAGAAGGTATGTGTTCTTCTATGCCTGGCTAGCTGTTTTCACGTTGTCAAAAAGAGTACCAAACCTACTACTATAAATTATAGTAGAATGAAAAGTGTAAAAGTACACAAAGGTAGCTTTGGTTCAGCGTGGACCATTAAAATTAATGCATATTCTTGGTCAACAATGCTTTTCTCTTCTTTCTCTGTATCTCTGATAAATTTACTCATGCTATTGGAGTAAAAGTTCTGTGTTTATTTATGGCCCCAGAAGCAAACAATGGGTATCAGATGTACTTAAAG... | ATACTTTAGTCTAAAAATAAACTACAAGGAAGTAAAATAGAGAAGGTATGTGTTCTTCTATGCCTGGCTAGCTGTTTTCACGTTGTCAAAAAGAGTACCAAACCTACTACTATAAATTATAGTAGAATGAAAAGTGTAAAAGTACACAAAGGTAGCTTTGGTTCAGCGTGGACCATTAAAATTAATGCATATTCTTGGTCAACAATGCTTTTCTCTTCTTTCTCTGTATCTCTGATAAATTTACTCATGCTATTGGAGTAAAAGTTCTGTGTTTATTTATGGCCCCAGAAGCAAACAATGGGTATCAGATGTACTTAAAG... | pathogenic | 12,282 |
Variant in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase), located at chromosome 1 position 99916470: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Glycogen_storage_disease_type_III'] | ATACTTTAGTCTAAAAATAAACTACAAGGAAGTAAAATAGAGAAGGTATGTGTTCTTCTATGCCTGGCTAGCTGTTTTCACGTTGTCAAAAAGAGTACCAAACCTACTACTATAAATTATAGTAGAATGAAAAGTGTAAAAGTACACAAAGGTAGCTTTGGTTCAGCGTGGACCATTAAAATTAATGCATATTCTTGGTCAACAATGCTTTTCTCTTCTTTCTCTGTATCTCTGATAAATTTACTCATGCTATTGGAGTAAAAGTTCTGTGTTTATTTATGGCCCCAGAAGCAAACAATGGGTATCAGATGTACTTAAAG... | ATACTTTAGTCTAAAAATAAACTACAAGGAAGTAAAATAGAGAAGGTATGTGTTCTTCTATGCCTGGCTAGCTGTTTTCACGTTGTCAAAAAGAGTACCAAACCTACTACTATAAATTATAGTAGAATGAAAAGTGTAAAAGTACACAAAGGTAGCTTTGGTTCAGCGTGGACCATTAAAATTAATGCATATTCTTGGTCAACAATGCTTTTCTCTTCTTTCTCTGTATCTCTGATAAATTTACTCATGCTATTGGAGTAAAAGTTCTGTGTTTATTTATGGCCCCAGAAGCAAACAATGGGTATCAGATGTACTTAAAG... | pathogenic | 12,283 |
Chromosome 1, position 99916671, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glycogen_storage_disease_type_III'] | ACAATGCTTTTCTCTTCTTTCTCTGTATCTCTGATAAATTTACTCATGCTATTGGAGTAAAAGTTCTGTGTTTATTTATGGCCCCAGAAGCAAACAATGGGTATCAGATGTACTTAAAGAAAGCTATTATGAATCTGCTGAAGAATGAGTTACATAAATTTAAGTGTGTGCTGTCTGGGTTCAGTGGCTCACACCTGTAATTCCAACACTTTGGGAGGCTGAGGTTGGAGGATCATTTGAGCTCAGGAGTTCAAGATCAGCCTGGGCAACATAGTGAGACTTCATCTCCACAAAAATTTAAAAAAAAATTAGCCATTTGT... | ACAATGCTTTTCTCTTCTTTCTCTGTATCTCTGATAAATTTACTCATGCTATTGGAGTAAAAGTTCTGTGTTTATTTATGGCCCCAGAAGCAAACAATGGGTATCAGATGTACTTAAAGAAAGCTATTATGAATCTGCTGAAGAATGAGTTACATAAATTTAAGTGTGTGCTGTCTGGGTTCAGTGGCTCACACCTGTAATTCCAACACTTTGGGAGGCTGAGGTTGGAGGATCATTTGAGCTCAGGAGTTCAAGATCAGCCTGGGCAACATAGTGAGACTTCATCTCCACAAAAATTTAAAAAAAAATTAGCCATTTGT... | pathogenic | 12,287 |
A genetic alteration at chromosome 1, position 99916703, in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['AGL-related_disorder', 'Glycogen_storage_disease_IIIa', 'Glycogen_storage_disease_type_III'] | GATAAATTTACTCATGCTATTGGAGTAAAAGTTCTGTGTTTATTTATGGCCCCAGAAGCAAACAATGGGTATCAGATGTACTTAAAGAAAGCTATTATGAATCTGCTGAAGAATGAGTTACATAAATTTAAGTGTGTGCTGTCTGGGTTCAGTGGCTCACACCTGTAATTCCAACACTTTGGGAGGCTGAGGTTGGAGGATCATTTGAGCTCAGGAGTTCAAGATCAGCCTGGGCAACATAGTGAGACTTCATCTCCACAAAAATTTAAAAAAAAATTAGCCATTTGTGGTGGTACACACCTGTAGTCCCAGCTGCTCAA... | GATAAATTTACTCATGCTATTGGAGTAAAAGTTCTGTGTTTATTTATGGCCCCAGAAGCAAACAATGGGTATCAGATGTACTTAAAGAAAGCTATTATGAATCTGCTGAAGAATGAGTTACATAAATTTAAGTGTGTGCTGTCTGGGTTCAGTGGCTCACACCTGTAATTCCAACACTTTGGGAGGCTGAGGTTGGAGGATCATTTGAGCTCAGGAGTTCAAGATCAGCCTGGGCAACATAGTGAGACTTCATCTCCACAAAAATTTAAAAAAAAATTAGCCATTTGTGGTGGTACACACCTGTAGTCCCAGCTGCTCAA... | pathogenic | 12,289 |
A genetic alteration at chromosome 1, position 99921555, in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glycogen_storage_disease_type_III'] | GATCTGAGCACATGGTGTATTTATTATTACTATGACCCCCAGTAGATAGGGCTAGGGAATATATAATAATACATAAACATAAGTAAATACATACACACTTATCTTCATCTCAATGTATCCTGTCTATGTGTGTTGAAAACCTGAGTTTACACCAGTTCCAAGCTATTTCTCAGTGTTTAATTCTATTTTTCTCCCTTTCTATATTTGTAATTCCCTTTTCCAACAATGAATAACCTACTTCCCACATTGGGCCATCACCACCACATAGAGTCTGCTCACCCAGCTTGGGCCTGCTACCCCACAGTAAGCCACCTCTATGT... | GATCTGAGCACATGGTGTATTTATTATTACTATGACCCCCAGTAGATAGGGCTAGGGAATATATAATAATACATAAACATAAGTAAATACATACACACTTATCTTCATCTCAATGTATCCTGTCTATGTGTGTTGAAAACCTGAGTTTACACCAGTTCCAAGCTATTTCTCAGTGTTTAATTCTATTTTTCTCCCTTTCTATATTTGTAATTCCCTTTTCCAACAATGAATAACCTACTTCCCACATTGGGCCATCACCACCACATAGAGTCTGCTCACCCAGCTTGGGCCTGCTACCCCACAGTAAGCCACCTCTATGT... | pathogenic | 12,294 |
A genetic variant on chromosome 1, position 99921580, affects the gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glycogen_storage_disease_IIIa', 'Glycogen_storage_disease_type_III', 'Inborn_genetic_diseases'] | ATTACTATGACCCCCAGTAGATAGGGCTAGGGAATATATAATAATACATAAACATAAGTAAATACATACACACTTATCTTCATCTCAATGTATCCTGTCTATGTGTGTTGAAAACCTGAGTTTACACCAGTTCCAAGCTATTTCTCAGTGTTTAATTCTATTTTTCTCCCTTTCTATATTTGTAATTCCCTTTTCCAACAATGAATAACCTACTTCCCACATTGGGCCATCACCACCACATAGAGTCTGCTCACCCAGCTTGGGCCTGCTACCCCACAGTAAGCCACCTCTATGTGTGGAGCCCTCCTGGCACCACTTGG... | ATTACTATGACCCCCAGTAGATAGGGCTAGGGAATATATAATAATACATAAACATAAGTAAATACATACACACTTATCTTCATCTCAATGTATCCTGTCTATGTGTGTTGAAAACCTGAGTTTACACCAGTTCCAAGCTATTTCTCAGTGTTTAATTCTATTTTTCTCCCTTTCTATATTTGTAATTCCCTTTTCCAACAATGAATAACCTACTTCCCACATTGGGCCATCACCACCACATAGAGTCTGCTCACCCAGCTTGGGCCTGCTACCCCACAGTAAGCCACCTCTATGTGTGGAGCCCTCCTGGCACCACTTGG... | pathogenic | 12,295 |
Is the genetic variant on chromosome 1, position 100011489, gene SLC35A3 (solute carrier family 35 member A3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autism_spectrum_disorder_-_epilepsy_-_arthrogryposis_syndrome'] | TACAAAATACAGATTGGTCCTAGATTATATGTGGTCTTCAGTATTGAGCCAGGAGCTTAGGCTTGACTGCTTTTGGCTGTAAGGGCTCACTGGAGAGTTGGAAGGGAGAGAGGCATATCAGAGAAATCCTATAGGCATGCAGGACAGATTGGTGGGGAGAAATACTGAAGGAATGGAGAGGAGTTAGAAAGCATGACAGGGACCTAAACTGTCAGGTTAATGGGATTGGAATGTCCCACAGCAGTGATGTAAGAGTTGTTCCAAGGGAAGAATCAGTATGAGTGTTAGACCAATAAATATCATAGAGAATGGAGAGCAAG... | TACAAAATACAGATTGGTCCTAGATTATATGTGGTCTTCAGTATTGAGCCAGGAGCTTAGGCTTGACTGCTTTTGGCTGTAAGGGCTCACTGGAGAGTTGGAAGGGAGAGAGGCATATCAGAGAAATCCTATAGGCATGCAGGACAGATTGGTGGGGAGAAATACTGAAGGAATGGAGAGGAGTTAGAAAGCATGACAGGGACCTAAACTGTCAGGTTAATGGGATTGGAATGTCCCACAGCAGTGATGTAAGAGTTGTTCCAAGGGAAGAATCAGTATGAGTGTTAGACCAATAAATATCATAGAGAATGGAGAGCAAG... | pathogenic | 12,314 |
A mutation at chromosome position 100015346 on chromosome 1 in gene SLC35A3 (solute carrier family 35 member A3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autism_spectrum_disorder_-_epilepsy_-_arthrogryposis_syndrome'] | GAGACCCTGTTTCTTAAAAATATATATATATAAGCCTGGATACAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGTGGATTGTTTGAGCTTAGGAATTGGAGACCAGTCTGAGCAACACTACAAAACTCTGTACAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTAGCGTGTGCCTGTGGTCCAAGCTACTTCGGAGGCTGAGGTGGGAGGATCGCTTGAGTCCAAGAAGTCGAGGCTGCAGTGAGTTGTGATTGTGCCTCTGCACTCCAGCCTGCTAAGTGACAGAGTGAAATCCTGTCTCAA... | GAGACCCTGTTTCTTAAAAATATATATATATAAGCCTGGATACAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGTGGATTGTTTGAGCTTAGGAATTGGAGACCAGTCTGAGCAACACTACAAAACTCTGTACAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTAGCGTGTGCCTGTGGTCCAAGCTACTTCGGAGGCTGAGGTGGGAGGATCGCTTGAGTCCAAGAAGTCGAGGCTGCAGTGAGTTGTGATTGTGCCTCTGCACTCCAGCCTGCTAAGTGACAGAGTGAAATCCTGTCTCAA... | pathogenic | 12,315 |
Classify the chromosome 1 variant at position 100193598 affecting gene DBT (dihydrolipoamide branched chain transacylase E2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CTGCCCATAAAAAAATTCTCCCAGATTCCCATTCTCGATCCATGTAGTTGAATGAGGATGGCTGACTCCTAGGCTCCAAAGGTGACTAAGACTCAAGTGTGGACAGAGTATTCTATTCTCCTGCCCACACTGATGGGCACATGAACCAAGAAAGACAAAAGGTCTCCTGGGGGTGTGTGTATATATATGTGTGTGTGTATACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAATGGCACAATCTCAGCTCACGGCAGCCTT... | CTGCCCATAAAAAAATTCTCCCAGATTCCCATTCTCGATCCATGTAGTTGAATGAGGATGGCTGACTCCTAGGCTCCAAAGGTGACTAAGACTCAAGTGTGGACAGAGTATTCTATTCTCCTGCCCACACTGATGGGCACATGAACCAAGAAAGACAAAAGGTCTCCTGGGGGTGTGTGTATATATATGTGTGTGTGTATACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAATGGCACAATCTCAGCTCACGGCAGCCTT... | benign | 12,359 |
Is the genetic variant on chromosome 1, position 100196430, gene DBT (dihydrolipoamide branched chain transacylase E2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GGCTGGAGTGCAGTGGTGTGATCTCTGCTCACTGTAACCTCCACCTCTTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAGGCCCAGGTAATTTTTTGTATTTTTACAAAACTGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCTGGCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCAGGCTAATTTTAAAAATAATGTTTTTTGAGATGGGATCTCACTATGTTGCCCAGGCTGGTCTCAAA... | GGCTGGAGTGCAGTGGTGTGATCTCTGCTCACTGTAACCTCCACCTCTTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAGGCCCAGGTAATTTTTTGTATTTTTACAAAACTGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCTGGCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCAGGCTAATTTTAAAAATAATGTTTTTTGAGATGGGATCTCACTATGTTGCCCAGGCTGGTCTCAAA... | benign | 12,366 |
Considering the variant on chromosome 1, location 100196430, involving gene DBT (dihydrolipoamide branched chain transacylase E2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GGCTGGAGTGCAGTGGTGTGATCTCTGCTCACTGTAACCTCCACCTCTTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAGGCCCAGGTAATTTTTTGTATTTTTACAAAACTGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCTGGCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCAGGCTAATTTTAAAAATAATGTTTTTTGAGATGGGATCTCACTATGTTGCCCAGGCTGGTCTCAAA... | GGCTGGAGTGCAGTGGTGTGATCTCTGCTCACTGTAACCTCCACCTCTTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAGGCCCAGGTAATTTTTTGTATTTTTACAAAACTGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCTGGCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCAGGCTAATTTTAAAAATAATGTTTTTTGAGATGGGATCTCACTATGTTGCCCAGGCTGGTCTCAAA... | benign | 12,367 |
Located at chromosome 1 position 100206304, the variant affecting gene DBT (dihydrolipoamide branched chain transacylase E2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CTCAGGATACAAAATCAATGTGCAAAAATCACAAGCATTCCTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGGAAACTCCCATTCACAATTGCTATAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAGGGACCTCTTCAAGGAGAATTACAAACCACTGCTCAAGGAAATACAAGGGGACACAAACAAATGGAAAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAATGGCCAAACTGCCCAAAGTAATTTATAGATTCAATGCTATTCCCATCAAGCTACCATTGA... | CTCAGGATACAAAATCAATGTGCAAAAATCACAAGCATTCCTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGGAAACTCCCATTCACAATTGCTATAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAGGGACCTCTTCAAGGAGAATTACAAACCACTGCTCAAGGAAATACAAGGGGACACAAACAAATGGAAAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAATGGCCAAACTGCCCAAAGTAATTTATAGATTCAATGCTATTCCCATCAAGCTACCATTGA... | benign | 12,373 |
The mutation in gene DBT (dihydrolipoamide branched chain transacylase E2) at chromosome 1, position 100206309—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GATACAAAATCAATGTGCAAAAATCACAAGCATTCCTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGGAAACTCCCATTCACAATTGCTATAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAGGGACCTCTTCAAGGAGAATTACAAACCACTGCTCAAGGAAATACAAGGGGACACAAACAAATGGAAAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAATGGCCAAACTGCCCAAAGTAATTTATAGATTCAATGCTATTCCCATCAAGCTACCATTGACTTTC... | GATACAAAATCAATGTGCAAAAATCACAAGCATTCCTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGGAAACTCCCATTCACAATTGCTATAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAGGGACCTCTTCAAGGAGAATTACAAACCACTGCTCAAGGAAATACAAGGGGACACAAACAAATGGAAAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAATGGCCAAACTGCCCAAAGTAATTTATAGATTCAATGCTATTCCCATCAAGCTACCATTGACTTTC... | benign | 12,375 |
Clinical classification of chromosome 1, position 100206310, gene DBT (dihydrolipoamide branched chain transacylase E2): benign or pathogenic? Disease(s) if pathogenic? | benign | ATACAAAATCAATGTGCAAAAATCACAAGCATTCCTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGGAAACTCCCATTCACAATTGCTATAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAGGGACCTCTTCAAGGAGAATTACAAACCACTGCTCAAGGAAATACAAGGGGACACAAACAAATGGAAAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAATGGCCAAACTGCCCAAAGTAATTTATAGATTCAATGCTATTCCCATCAAGCTACCATTGACTTTCT... | ATACAAAATCAATGTGCAAAAATCACAAGCATTCCTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGGAAACTCCCATTCACAATTGCTATAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAGGGACCTCTTCAAGGAGAATTACAAACCACTGCTCAAGGAAATACAAGGGGACACAAACAAATGGAAAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAATGGCCAAACTGCCCAAAGTAATTTATAGATTCAATGCTATTCCCATCAAGCTACCATTGACTTTCT... | benign | 12,377 |
Is the genetic variant on chromosome 1, position 100206487, gene DBT (dihydrolipoamide branched chain transacylase E2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Maple_syrup_urine_disease'] | CAAGGAAATACAAGGGGACACAAACAAATGGAAAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAATGGCCAAACTGCCCAAAGTAATTTATAGATTCAATGCTATTCCCATCAAGCTACCATTGACTTTCTTCACAGAATTAGAAAAAACTACTTTAAATTTTATATGGAACCAAAAAAAAAGCCCACATAGCCAAGATAATCCTAAACAAAAAGAAGGAAGCTGGAGGCATCATGCTACCTGACCTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTAATGGTACCAAAACAGAGAG... | CAAGGAAATACAAGGGGACACAAACAAATGGAAAAACATTCCATGCTCATGGATAGGAAGAATCAATATTGTGAAAATGGCCAAACTGCCCAAAGTAATTTATAGATTCAATGCTATTCCCATCAAGCTACCATTGACTTTCTTCACAGAATTAGAAAAAACTACTTTAAATTTTATATGGAACCAAAAAAAAAGCCCACATAGCCAAGATAATCCTAAACAAAAAGAAGGAAGCTGGAGGCATCATGCTACCTGACCTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTAATGGTACCAAAACAGAGAG... | pathogenic | 12,380 |
Clinical classification of chromosome 1, position 100214927, gene DBT (dihydrolipoamide branched chain transacylase E2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Maple_syrup_urine_disease'] | CCACACTAAGGAGTATGGCATACAAATTATCCTGAAGGTAATGAAAGGGAACCACTGAAAAGAATCAGAGAATATTACAGTAATTTGATTTACGGAAGACCAGTCTTGGTGCAGTGTAGAGAAAGGACTGGACATGTTGGCATTACAGACATCAGTATGTCCTTCTGAGTAAAACAGACCAGAACCTGAAAGAGCTTCTCCACCTGTTAGCTGTAAGTCCTTAACAAGTTTCTCAACCTCTCTGAGCCCCAATTTCCTTAAATGGAAAGTGGAGACAGTAATATTTACATGTCAGGGTTACTCTGAGAATTAAGAGATAA... | CCACACTAAGGAGTATGGCATACAAATTATCCTGAAGGTAATGAAAGGGAACCACTGAAAAGAATCAGAGAATATTACAGTAATTTGATTTACGGAAGACCAGTCTTGGTGCAGTGTAGAGAAAGGACTGGACATGTTGGCATTACAGACATCAGTATGTCCTTCTGAGTAAAACAGACCAGAACCTGAAAGAGCTTCTCCACCTGTTAGCTGTAAGTCCTTAACAAGTTTCTCAACCTCTCTGAGCCCCAATTTCCTTAAATGGAAAGTGGAGACAGTAATATTTACATGTCAGGGTTACTCTGAGAATTAAGAGATAA... | pathogenic | 12,392 |
A genetic variant at chromosome 1, position 100216041, affecting gene DBT (dihydrolipoamide branched chain transacylase E2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Maple_syrup_urine_disease_type_1A', 'Maple_syrup_urine_disease_type_2'] | TTACTATGGAGGCTGGCACATGGTAGCTGCTGCACAGTCACTAATGTGAGCTAGACTGTATGCTGCTCAAGGTTAGCTGATGGTCTTACTCCATTTTATACTGGTCCCAAGGCTTAGCACTAGAAATGATTCCCAGGATCCTCAATATAAGTTGGTTGAGTAAATGAAAATAAATATTAAATATATGTCAGTGATATTGCAAAATTAATATCAAGTCTCATTTTAGTTCAAACCAAGACTTGGTTGGAGTGATCCTTTTAGGATCAGAGGCTTTACTTAACTGGCAGAATTGTCTCTACCTAGCTCAAAGATAAGCAGCT... | TTACTATGGAGGCTGGCACATGGTAGCTGCTGCACAGTCACTAATGTGAGCTAGACTGTATGCTGCTCAAGGTTAGCTGATGGTCTTACTCCATTTTATACTGGTCCCAAGGCTTAGCACTAGAAATGATTCCCAGGATCCTCAATATAAGTTGGTTGAGTAAATGAAAATAAATATTAAATATATGTCAGTGATATTGCAAAATTAATATCAAGTCTCATTTTAGTTCAAACCAAGACTTGGTTGGAGTGATCCTTTTAGGATCAGAGGCTTTACTTAACTGGCAGAATTGTCTCTACCTAGCTCAAAGATAAGCAGCT... | pathogenic | 12,399 |
Regarding the variant at chromosome 1 and position 100218723, affecting gene DBT (dihydrolipoamide branched chain transacylase E2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Maple_syrup_urine_disease'] | GCTGAGAATTTAAGAGAAACTAAATGCTATACCAAATTTAGACCAATGTTTCTGACACTGGCTACCAGTTAAAAACGTAACAACTTAAATAATCATAATACAAAAGCTCTCTCAAATTAGTTATTTTTCTGGTAGTTGCTTTGGAAAGATCAGTACAAAACATTTAATTCTATTTAAATAAAAATAAACATAAAAGCTTGGAATGATCTCCTCATATATAGTATGTATTAATTTCTTAGGGATAGGCCCCATTTCATTTGTATTAGTGCATCTCTAAGGATGACTAAAATAATAAAGGACTTTACTAAGGCAAACACTAA... | GCTGAGAATTTAAGAGAAACTAAATGCTATACCAAATTTAGACCAATGTTTCTGACACTGGCTACCAGTTAAAAACGTAACAACTTAAATAATCATAATACAAAAGCTCTCTCAAATTAGTTATTTTTCTGGTAGTTGCTTTGGAAAGATCAGTACAAAACATTTAATTCTATTTAAATAAAAATAAACATAAAAGCTTGGAATGATCTCCTCATATATAGTATGTATTAATTTCTTAGGGATAGGCCCCATTTCATTTGTATTAGTGCATCTCTAAGGATGACTAAAATAATAAAGGACTTTACTAAGGCAAACACTAA... | pathogenic | 12,406 |
Variant at chromosome 1, position 100218750, gene DBT (dihydrolipoamide branched chain transacylase E2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['DBT-related_disorder', 'Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | TATACCAAATTTAGACCAATGTTTCTGACACTGGCTACCAGTTAAAAACGTAACAACTTAAATAATCATAATACAAAAGCTCTCTCAAATTAGTTATTTTTCTGGTAGTTGCTTTGGAAAGATCAGTACAAAACATTTAATTCTATTTAAATAAAAATAAACATAAAAGCTTGGAATGATCTCCTCATATATAGTATGTATTAATTTCTTAGGGATAGGCCCCATTTCATTTGTATTAGTGCATCTCTAAGGATGACTAAAATAATAAAGGACTTTACTAAGGCAAACACTAAGTTTGTAACAAATGGACTATGAAAATT... | TATACCAAATTTAGACCAATGTTTCTGACACTGGCTACCAGTTAAAAACGTAACAACTTAAATAATCATAATACAAAAGCTCTCTCAAATTAGTTATTTTTCTGGTAGTTGCTTTGGAAAGATCAGTACAAAACATTTAATTCTATTTAAATAAAAATAAACATAAAAGCTTGGAATGATCTCCTCATATATAGTATGTATTAATTTCTTAGGGATAGGCCCCATTTCATTTGTATTAGTGCATCTCTAAGGATGACTAAAATAATAAAGGACTTTACTAAGGCAAACACTAAGTTTGTAACAAATGGACTATGAAAATT... | pathogenic | 12,409 |
Clinically, how would you classify the variant at chromosome 1, position 100230801, gene DBT (dihydrolipoamide branched chain transacylase E2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_2'] | CTGTCTCAAACAAACAAAAAAATAAAATTGAAATGTACTGTCATGAAAACATAGATGAACAAAGCAAACAGATTGGACTACAGCATATACAATATATTATTTTGGTTAAAAAAATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAAC... | CTGTCTCAAACAAACAAAAAAATAAAATTGAAATGTACTGTCATGAAAACATAGATGAACAAAGCAAACAGATTGGACTACAGCATATACAATATATTATTTTGGTTAAAAAAATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAAC... | pathogenic | 12,411 |
Variant at chromosome position 100230805, chromosome 1, gene DBT (dihydrolipoamide branched chain transacylase E2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Maple_syrup_urine_disease_type_2'] | CTCAAACAAACAAAAAAATAAAATTGAAATGTACTGTCATGAAAACATAGATGAACAAAGCAAACAGATTGGACTACAGCATATACAATATATTATTTTGGTTAAAAAAATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGT... | CTCAAACAAACAAAAAAATAAAATTGAAATGTACTGTCATGAAAACATAGATGAACAAAGCAAACAGATTGGACTACAGCATATACAATATATTATTTTGGTTAAAAAAATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGT... | pathogenic | 12,412 |
Evaluate this variant at chromosome 1, position 100230890, gene DBT (dihydrolipoamide branched chain transacylase E2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Maple_syrup_urine_disease'] | CAATATATTATTTTGGTTAAAAAAATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGTCATAGAAAATATTCTGGACAAAGACTCAGGTCATCTAAGTTCTAACTTTGGTCCTGTCACCAACCATTGAGCAAATTGTCCAACC... | CAATATATTATTTTGGTTAAAAAAATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGTCATAGAAAATATTCTGGACAAAGACTCAGGTCATCTAAGTTCTAACTTTGGTCCTGTCACCAACCATTGAGCAAATTGTCCAACC... | pathogenic | 12,414 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 100230900, gene DBT (dihydrolipoamide branched chain transacylase E2): what disease(s) if pathogenic? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | TTTTGGTTAAAAAAATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGTCATAGAAAATATTCTGGACAAAGACTCAGGTCATCTAAGTTCTAACTTTGGTCCTGTCACCAACCATTGAGCAAATTGTCCAACCTTTCTTTTTT... | TTTTGGTTAAAAAAATACCTACATGTACACATATGACCTAGAAAAATATCTGGAATGATATACACGAATGCATTGAGTGTGATTTGTGAACATTAGGGTTTTTGTTGTTGTTTTGGCTTTCTGTATTTTAGAACTTTCTGCAATGCACCCCTCCTGCTTTTATAATAATAAAAAGTAGTAGGAAGCCTTCAATAAATCACCTTCTAGCTTTTAGAAGCAACATGTCATAGAAAATATTCTGGACAAAGACTCAGGTCATCTAAGTTCTAACTTTGGTCCTGTCACCAACCATTGAGCAAATTGTCCAACCTTTCTTTTTT... | pathogenic | 12,415 |
Variant on chromosome 1, at position 100235416, affecting DBT (dihydrolipoamide branched chain transacylase E2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TAAGAATGAGGTTTTATTTACCCTTACCCAAAACCACACTAACTTCTGTTAAATTATGCTTCCTTACATATTCAAATTTCTATTCCCAGGCTTCATTTTATAGAACACAATTCTGCCCTTTAGCATTTTACCAAGTGCAACGCAATACATATTTTTTCCTTAAGTTATTTATGGATAGTTTGAAATGGTTGTTCCTCAGTGCCGTAAAGAAATAGCAGTTGAACATAAATTTAATTTACTCAGCAAGGCCATTTTTACTTCCTGCAGAAAAAGTACACTCACCAGCAGTTTTGCCACAAGAGTACACGGAACAAAGGAGA... | TAAGAATGAGGTTTTATTTACCCTTACCCAAAACCACACTAACTTCTGTTAAATTATGCTTCCTTACATATTCAAATTTCTATTCCCAGGCTTCATTTTATAGAACACAATTCTGCCCTTTAGCATTTTACCAAGTGCAACGCAATACATATTTTTTCCTTAAGTTATTTATGGATAGTTTGAAATGGTTGTTCCTCAGTGCCGTAAAGAAATAGCAGTTGAACATAAATTTAATTTACTCAGCAAGGCCATTTTTACTTCCTGCAGAAAAAGTACACTCACCAGCAGTTTTGCCACAAGAGTACACGGAACAAAGGAGA... | benign | 12,418 |
Is the chromosome 1, position 100240789 variant in DBT (dihydrolipoamide branched chain transacylase E2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Maple_syrup_urine_disease'] | TTAGGAAATATCAGAAGGAAAAGAGATTTGTAGAAGACTGAGTTTTGGGGACATTGGAATGGAGTTGGTGAGAGATGTGAGCTACAGCTACAGATTCACAAGTCTTCAATGAGGTGAGAGTTGAAGGCATGTGTGTAGATGTAGTACAAGAAGAGAGGGCAAAGGATGGGATCCTATGAAAAACTGAAGTTTAAAAGAGAAGCAGAAGAAGAGAAACCTTAATAAGTATCCAGAGAAAGCAGTATTAGTATATGTAAGCAGTATTAGTATATCTAAGCAGTATTAGAGTATGTAAGTACTTTATATATTCTAATTTATTT... | TTAGGAAATATCAGAAGGAAAAGAGATTTGTAGAAGACTGAGTTTTGGGGACATTGGAATGGAGTTGGTGAGAGATGTGAGCTACAGCTACAGATTCACAAGTCTTCAATGAGGTGAGAGTTGAAGGCATGTGTGTAGATGTAGTACAAGAAGAGAGGGCAAAGGATGGGATCCTATGAAAAACTGAAGTTTAAAAGAGAAGCAGAAGAAGAGAAACCTTAATAAGTATCCAGAGAAAGCAGTATTAGTATATGTAAGCAGTATTAGTATATCTAAGCAGTATTAGAGTATGTAAGTACTTTATATATTCTAATTTATTT... | pathogenic | 12,421 |
A genetic variant at chromosome 1, position 100240821, affecting gene DBT (dihydrolipoamide branched chain transacylase E2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_2'] | GAAGACTGAGTTTTGGGGACATTGGAATGGAGTTGGTGAGAGATGTGAGCTACAGCTACAGATTCACAAGTCTTCAATGAGGTGAGAGTTGAAGGCATGTGTGTAGATGTAGTACAAGAAGAGAGGGCAAAGGATGGGATCCTATGAAAAACTGAAGTTTAAAAGAGAAGCAGAAGAAGAGAAACCTTAATAAGTATCCAGAGAAAGCAGTATTAGTATATGTAAGCAGTATTAGTATATCTAAGCAGTATTAGAGTATGTAAGTACTTTATATATTCTAATTTATTTAATCCACCCAAGTATAAGGATCTTTGTTTTGT... | GAAGACTGAGTTTTGGGGACATTGGAATGGAGTTGGTGAGAGATGTGAGCTACAGCTACAGATTCACAAGTCTTCAATGAGGTGAGAGTTGAAGGCATGTGTGTAGATGTAGTACAAGAAGAGAGGGCAAAGGATGGGATCCTATGAAAAACTGAAGTTTAAAAGAGAAGCAGAAGAAGAGAAACCTTAATAAGTATCCAGAGAAAGCAGTATTAGTATATGTAAGCAGTATTAGTATATCTAAGCAGTATTAGAGTATGTAAGTACTTTATATATTCTAATTTATTTAATCCACCCAAGTATAAGGATCTTTGTTTTGT... | pathogenic | 12,423 |
Evaluate the clinical significance of the mutation at chromosome 1, position 100240859 in gene DBT (dihydrolipoamide branched chain transacylase E2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A', 'Maple_syrup_urine_disease_type_2'] | AGAGATGTGAGCTACAGCTACAGATTCACAAGTCTTCAATGAGGTGAGAGTTGAAGGCATGTGTGTAGATGTAGTACAAGAAGAGAGGGCAAAGGATGGGATCCTATGAAAAACTGAAGTTTAAAAGAGAAGCAGAAGAAGAGAAACCTTAATAAGTATCCAGAGAAAGCAGTATTAGTATATGTAAGCAGTATTAGTATATCTAAGCAGTATTAGAGTATGTAAGTACTTTATATATTCTAATTTATTTAATCCACCCAAGTATAAGGATCTTTGTTTTGTGTACTGATATATCCCAAGCACCTAGAGCAGTGCCTTGG... | AGAGATGTGAGCTACAGCTACAGATTCACAAGTCTTCAATGAGGTGAGAGTTGAAGGCATGTGTGTAGATGTAGTACAAGAAGAGAGGGCAAAGGATGGGATCCTATGAAAAACTGAAGTTTAAAAGAGAAGCAGAAGAAGAGAAACCTTAATAAGTATCCAGAGAAAGCAGTATTAGTATATGTAAGCAGTATTAGTATATCTAAGCAGTATTAGAGTATGTAAGTACTTTATATATTCTAATTTATTTAATCCACCCAAGTATAAGGATCTTTGTTTTGTGTACTGATATATCCCAAGCACCTAGAGCAGTGCCTTGG... | pathogenic | 12,424 |
Mutation at chromosome 1, position 102890516, within COL11A1 (collagen type XI alpha 1 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AGCACTTTTGGCAGAATGTGCTTTTTGTCTATCTTATAAGTTCAGAGAAATCATTGGCAGCTTCCAGATGCAAACTGTCAGAACATCACTCTTGTTAACATATACTTACTGGAGACCCAGGAGGCCCTGGAAGACCACTGTCACCTTTCTGGCCAGCGGGTCCCTGTTAGAAAGAAGAGAGAGGACATAAATAAAGAAGAGGCAATTAAATAGGTTTCAATGCAAAATTAAATTGTCAAAGGGAAAAGTACTTACAGTAGAGCCTTTGTTACCCTTTGGGCCTTGAGGACCCTACAAAATGCAAATGCAAAAGCACAGAT... | AGCACTTTTGGCAGAATGTGCTTTTTGTCTATCTTATAAGTTCAGAGAAATCATTGGCAGCTTCCAGATGCAAACTGTCAGAACATCACTCTTGTTAACATATACTTACTGGAGACCCAGGAGGCCCTGGAAGACCACTGTCACCTTTCTGGCCAGCGGGTCCCTGTTAGAAAGAAGAGAGAGGACATAAATAAAGAAGAGGCAATTAAATAGGTTTCAATGCAAAATTAAATTGTCAAAGGGAAAAGTACTTACAGTAGAGCCTTTGTTACCCTTTGGGCCTTGAGGACCCTACAAAATGCAAATGCAAAAGCACAGAT... | benign | 12,544 |
Variant in gene COL11A1 (collagen type XI alpha 1 chain), located at chromosome 1 position 102898927: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CCTTCCAGGCTCTGACTCTGGGCAGTTATGAGTTTATCATATCTAAGGAGAATATTCATAAGTAATGGTACAGATGTGGAGCTGATCCTGCTTCAACCGGGGCCCTTTTCCTAAGCTGATGAGATAATGGGCAGAACTGATCATCTCCTGCTTGAAATCTACCAAAATTTGATAACTTTTATCTAGTTACTAAATAAGTGATCTTTAAATTCTTCAGTGAAAGTTTAAATAATCTCTTTAAAACTTATGAAATATTTGGTAGGTATGCTTTGCATACCAAAGATGCTGTGGCATCTTTGTTAAAAGGAATAACCAAAATT... | CCTTCCAGGCTCTGACTCTGGGCAGTTATGAGTTTATCATATCTAAGGAGAATATTCATAAGTAATGGTACAGATGTGGAGCTGATCCTGCTTCAACCGGGGCCCTTTTCCTAAGCTGATGAGATAATGGGCAGAACTGATCATCTCCTGCTTGAAATCTACCAAAATTTGATAACTTTTATCTAGTTACTAAATAAGTGATCTTTAAATTCTTCAGTGAAAGTTTAAATAATCTCTTTAAAACTTATGAAATATTTGGTAGGTATGCTTTGCATACCAAAGATGCTGTGGCATCTTTGTTAAAAGGAATAACCAAAATT... | benign | 12,562 |
Does the variant on chromosome 1 at location 102914823 affecting gene COL11A1 (collagen type XI alpha 1 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ATAGTGAGTGAGTTCTCACGAGATCTGATGGTTTAATAAGTGGCTTTTCACCCTTCACTTTGCACTCCTCTCTCCTACTGCCATGTGAAGAAAGACATGCTTGCTTCGCCTTCCACCATATTGTAAGTTTCCTGAGGCCTTCCCAGCCATGCAGAATTGTGAGTCAATTAAACCTCTTTCCATTATAAATTACCCATTCTTGTGTACCTCACAGCAGTATGAGAATGGACTAATACACATGCTGAGATATGATCCACAGGTCTGTCTATGCAGAATAAGCCTGTATCTGTGATAGCAAAGCATCTAGTGGGAATGGCCCC... | ATAGTGAGTGAGTTCTCACGAGATCTGATGGTTTAATAAGTGGCTTTTCACCCTTCACTTTGCACTCCTCTCTCCTACTGCCATGTGAAGAAAGACATGCTTGCTTCGCCTTCCACCATATTGTAAGTTTCCTGAGGCCTTCCCAGCCATGCAGAATTGTGAGTCAATTAAACCTCTTTCCATTATAAATTACCCATTCTTGTGTACCTCACAGCAGTATGAGAATGGACTAATACACATGCTGAGATATGATCCACAGGTCTGTCTATGCAGAATAAGCCTGTATCTGTGATAGCAAAGCATCTAGTGGGAATGGCCCC... | benign | 12,584 |
Determine if the mutation at chromosome 1, position 102914823 in gene COL11A1 (collagen type XI alpha 1 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ATAGTGAGTGAGTTCTCACGAGATCTGATGGTTTAATAAGTGGCTTTTCACCCTTCACTTTGCACTCCTCTCTCCTACTGCCATGTGAAGAAAGACATGCTTGCTTCGCCTTCCACCATATTGTAAGTTTCCTGAGGCCTTCCCAGCCATGCAGAATTGTGAGTCAATTAAACCTCTTTCCATTATAAATTACCCATTCTTGTGTACCTCACAGCAGTATGAGAATGGACTAATACACATGCTGAGATATGATCCACAGGTCTGTCTATGCAGAATAAGCCTGTATCTGTGATAGCAAAGCATCTAGTGGGAATGGCCCC... | ATAGTGAGTGAGTTCTCACGAGATCTGATGGTTTAATAAGTGGCTTTTCACCCTTCACTTTGCACTCCTCTCTCCTACTGCCATGTGAAGAAAGACATGCTTGCTTCGCCTTCCACCATATTGTAAGTTTCCTGAGGCCTTCCCAGCCATGCAGAATTGTGAGTCAATTAAACCTCTTTCCATTATAAATTACCCATTCTTGTGTACCTCACAGCAGTATGAGAATGGACTAATACACATGCTGAGATATGATCCACAGGTCTGTCTATGCAGAATAAGCCTGTATCTGTGATAGCAAAGCATCTAGTGGGAATGGCCCC... | benign | 12,585 |
Regarding the variant at chromosome 1 and position 102914827, affecting gene COL11A1 (collagen type XI alpha 1 chain): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TGAGTGAGTTCTCACGAGATCTGATGGTTTAATAAGTGGCTTTTCACCCTTCACTTTGCACTCCTCTCTCCTACTGCCATGTGAAGAAAGACATGCTTGCTTCGCCTTCCACCATATTGTAAGTTTCCTGAGGCCTTCCCAGCCATGCAGAATTGTGAGTCAATTAAACCTCTTTCCATTATAAATTACCCATTCTTGTGTACCTCACAGCAGTATGAGAATGGACTAATACACATGCTGAGATATGATCCACAGGTCTGTCTATGCAGAATAAGCCTGTATCTGTGATAGCAAAGCATCTAGTGGGAATGGCCCCAGAG... | TGAGTGAGTTCTCACGAGATCTGATGGTTTAATAAGTGGCTTTTCACCCTTCACTTTGCACTCCTCTCTCCTACTGCCATGTGAAGAAAGACATGCTTGCTTCGCCTTCCACCATATTGTAAGTTTCCTGAGGCCTTCCCAGCCATGCAGAATTGTGAGTCAATTAAACCTCTTTCCATTATAAATTACCCATTCTTGTGTACCTCACAGCAGTATGAGAATGGACTAATACACATGCTGAGATATGATCCACAGGTCTGTCTATGCAGAATAAGCCTGTATCTGTGATAGCAAAGCATCTAGTGGGAATGGCCCCAGAG... | benign | 12,586 |
The genetic variant at chromosome 1, position 102915628, affecting gene COL11A1 (collagen type XI alpha 1 chain): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Fibrochondrogenesis_1', 'Marshall_syndrome'] | ATTAAAATGCCTTGAGACTATGTAAAAACTTAAAAATAAATTAGTGCATTTACTCACCGGTTGACCAGGATCTCCATCTTCACCCTTGTCACCACCAACACCATCTTGACCCTATAAGAGGCAATAAAATATGAAGCAAGATATATCTCAGTATCAATAAATCACACTACTTATCAGGAAAAAAGTATGTTAGGCCATCTCTTGAGAAAAATTATCAGATGGACAAGTAAAATCATTATATTCTTTTAACCTTTTTTAAAAAGATTGTGGTACCTCTCACTCTCCGCAAAAAAATTTGTAAAACTGCTACTATTAATATA... | ATTAAAATGCCTTGAGACTATGTAAAAACTTAAAAATAAATTAGTGCATTTACTCACCGGTTGACCAGGATCTCCATCTTCACCCTTGTCACCACCAACACCATCTTGACCCTATAAGAGGCAATAAAATATGAAGCAAGATATATCTCAGTATCAATAAATCACACTACTTATCAGGAAAAAAGTATGTTAGGCCATCTCTTGAGAAAAATTATCAGATGGACAAGTAAAATCATTATATTCTTTTAACCTTTTTTAAAAAGATTGTGGTACCTCTCACTCTCCGCAAAAAAATTTGTAAAACTGCTACTATTAATATA... | pathogenic | 12,591 |
Evaluate this variant at chromosome 1, position 102939031, gene COL11A1 (collagen type XI alpha 1 chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Stickler_syndrome_type_2'] | AACTAGATATGAGAATATAGCTTCTTCTATTAAGCTAGACAAAACAAATGTAACAATGGTACTCTTGGGACTATATATTTTTATTTGCAAAAATATAGCTAGTTTTTATTAAAAGTGCTTTGGGCTTATTATTCTTAATTATAAATAAATCAATACATAAATATTTTAAATATATCAGCTTTCATTCATATGATAGTAACCCACATAGACAAAAGCTTTTTGGGCTCCTAAAAACCTTTCCGAGTATGCAAGGGTCCTAAGGCAAAAATATTTGAGATTTGCTGGCCCATATAATGGCCATGCAGTCATTTTAGCATTGC... | AACTAGATATGAGAATATAGCTTCTTCTATTAAGCTAGACAAAACAAATGTAACAATGGTACTCTTGGGACTATATATTTTTATTTGCAAAAATATAGCTAGTTTTTATTAAAAGTGCTTTGGGCTTATTATTCTTAATTATAAATAAATCAATACATAAATATTTTAAATATATCAGCTTTCATTCATATGATAGTAACCCACATAGACAAAAGCTTTTTGGGCTCCTAAAAACCTTTCCGAGTATGCAAGGGTCCTAAGGCAAAAATATTTGAGATTTGCTGGCCCATATAATGGCCATGCAGTCATTTTAGCATTGC... | pathogenic | 12,608 |
Mutation at chromosome 1, position 102974860, within COL11A1 (collagen type XI alpha 1 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Marshall_syndrome'] | CTATTCTAAATAGAATGTTTCTCATACTAGTCATGCTATAATTCTTAATCATTTCAAGTTAATGTGTTTTTTAAATGGATGGCTGCATATTCCCAAAATATGCCGATATGGGCATGATATTAACAGAATCTGAAGGGAATATTTAGATCCATATATATATATGTCTGTGTGAATATACATCATATATATATAAAATTTTTTCCTGCTATGATGAAGGAGATGAACCAATTAATTTACAGGAAGAGGTTTTTTCTATCTCTCTACCCCAACTTCTTCTTTCTATATCAAACAGATGAAGCCAATTCTGTCCCAAACTGCAT... | CTATTCTAAATAGAATGTTTCTCATACTAGTCATGCTATAATTCTTAATCATTTCAAGTTAATGTGTTTTTTAAATGGATGGCTGCATATTCCCAAAATATGCCGATATGGGCATGATATTAACAGAATCTGAAGGGAATATTTAGATCCATATATATATATGTCTGTGTGAATATACATCATATATATATAAAATTTTTTCCTGCTATGATGAAGGAGATGAACCAATTAATTTACAGGAAGAGGTTTTTTCTATCTCTCTACCCCAACTTCTTCTTTCTATATCAAACAGATGAAGCCAATTCTGTCCCAAACTGCAT... | pathogenic | 12,640 |
The chromosome 1, position 102987616 genetic variant in gene COL11A1 (collagen type XI alpha 1 chain): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AATGTATGTATATACTCTAATTCATTTTAGAGTCATTTTAAAATAAATTCTGGCAGAAAGTTTGTATTTTCAACAGGATGATAGGCAACTTCAATAAACTAACATATACTAATGAAATGTTAAAGAAGAAAAGAACTGTGGGGTAGTTTAAGCTCCTGATTTATCACAATAGCTTGTGTGACTGTTTACACATGATAGAGCCTAAGAAGACAGGAAGGTCCCAGGATACCCTTTTAACCACTGGCCTTGAGCATTTTAAGGGAAAGGGTTTAAACGCCCCATAAGGCCTTGTTTTCCCCTGATCTTTTTCTTTTGCTGCC... | AATGTATGTATATACTCTAATTCATTTTAGAGTCATTTTAAAATAAATTCTGGCAGAAAGTTTGTATTTTCAACAGGATGATAGGCAACTTCAATAAACTAACATATACTAATGAAATGTTAAAGAAGAAAAGAACTGTGGGGTAGTTTAAGCTCCTGATTTATCACAATAGCTTGTGTGACTGTTTACACATGATAGAGCCTAAGAAGACAGGAAGGTCCCAGGATACCCTTTTAACCACTGGCCTTGAGCATTTTAAGGGAAAGGGTTTAAACGCCCCATAAGGCCTTGTTTTCCCCTGATCTTTTTCTTTTGCTGCC... | benign | 12,669 |
Chromosome 1, position 102995850, gene COL11A1 (collagen type XI alpha 1 chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GTGTTGGGATTATAGGCATGTGCCACTGTGCCCAGTCATATTATAATTTTTTAATTTAATTTTTTGTTTTTCTAGTATCTTTGATCTATGGTTTATTGAATCCATGGATGCAGAACCCATAGGGAGAGCCAACTGGTACTCTGAAGTTCATCTAGGTGATCAGGATGAACTGAGATTACCGTTAAGTAGGTGAGCTAATGTGAAATGCATGGCCTTTTTCATGTAATAAATCTGACAACATAGTTGTTTACTTTTAGTATATAACAGTAGCTTTTTCCAGATAAAGTATAATGGATATAATAAATCCATCCCTTTTTGTT... | GTGTTGGGATTATAGGCATGTGCCACTGTGCCCAGTCATATTATAATTTTTTAATTTAATTTTTTGTTTTTCTAGTATCTTTGATCTATGGTTTATTGAATCCATGGATGCAGAACCCATAGGGAGAGCCAACTGGTACTCTGAAGTTCATCTAGGTGATCAGGATGAACTGAGATTACCGTTAAGTAGGTGAGCTAATGTGAAATGCATGGCCTTTTTCATGTAATAAATCTGACAACATAGTTGTTTACTTTTAGTATATAACAGTAGCTTTTTCCAGATAAAGTATAATGGATATAATAAATCCATCCCTTTTTGTT... | benign | 12,673 |
Determine if the mutation at chromosome 1, position 102998372 in gene COL11A1 (collagen type XI alpha 1 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ATGTAAACAATTCAAAAATTAATAACTAGATTTTTAACCTAAAATATGCTATACTAATGTCTATAAAAGACAGTTATTGAAAAACTAACAAGATTGATAATTTCAAATAGAAAATTATAAATTAGTAGCATTCACTTCATCAAGAATATAATCAAAATTATATATCTTCCAAAAGCTGGTTTTTTCTCTAGTCTATCTAGATAAAATGTTCTATCAATCATAATTTATAATTTCCTCAGTAATGCTGAAATTTTAATGCTGTTTTAAAATAATTAAAAACAACTGTAAACAAAATGATCCTACCCCTGCTACTGTAATCT... | ATGTAAACAATTCAAAAATTAATAACTAGATTTTTAACCTAAAATATGCTATACTAATGTCTATAAAAGACAGTTATTGAAAAACTAACAAGATTGATAATTTCAAATAGAAAATTATAAATTAGTAGCATTCACTTCATCAAGAATATAATCAAAATTATATATCTTCCAAAAGCTGGTTTTTTCTCTAGTCTATCTAGATAAAATGTTCTATCAATCATAATTTATAATTTCCTCAGTAATGCTGAAATTTTAATGCTGTTTTAAAATAATTAAAAACAACTGTAAACAAAATGATCCTACCCCTGCTACTGTAATCT... | benign | 12,682 |
Regarding the variant at chromosome 1 and position 103005898, affecting gene COL11A1 (collagen type XI alpha 1 chain): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AAAAGCCAATAAAATAATCTAATTTCTCTCCCATTTGCTTGAACTTACTTGACAAGGATCTAAAATGTGGCGCAAGGTAGAATGCAGCAATTTAAAACCAAAATTAGGAGGCCTATTTCCAGTTTAGTTATTTTGTTAGCTAGCTTCAAGTAAACCTTCCCAGATCAGTTTCCTCATTTGTAATATTTGGTGGAGAAAAGTGATATATTCCATATGTCTGGTATATTCCAAGTGACATATTATTTTTTTTCTTCTGGTAATAGGATTCATTTCTTCTCAGTACATAAATTTCGGAGCTATTGATGACAGCACAAAAAACA... | AAAAGCCAATAAAATAATCTAATTTCTCTCCCATTTGCTTGAACTTACTTGACAAGGATCTAAAATGTGGCGCAAGGTAGAATGCAGCAATTTAAAACCAAAATTAGGAGGCCTATTTCCAGTTTAGTTATTTTGTTAGCTAGCTTCAAGTAAACCTTCCCAGATCAGTTTCCTCATTTGTAATATTTGGTGGAGAAAAGTGATATATTCCATATGTCTGGTATATTCCAAGTGACATATTATTTTTTTTCTTCTGGTAATAGGATTCATTTCTTCTCAGTACATAAATTTCGGAGCTATTGATGACAGCACAAAAAACA... | benign | 12,702 |
A mutation at chromosome position 103005900 on chromosome 1 in gene COL11A1 (collagen type XI alpha 1 chain): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AAGCCAATAAAATAATCTAATTTCTCTCCCATTTGCTTGAACTTACTTGACAAGGATCTAAAATGTGGCGCAAGGTAGAATGCAGCAATTTAAAACCAAAATTAGGAGGCCTATTTCCAGTTTAGTTATTTTGTTAGCTAGCTTCAAGTAAACCTTCCCAGATCAGTTTCCTCATTTGTAATATTTGGTGGAGAAAAGTGATATATTCCATATGTCTGGTATATTCCAAGTGACATATTATTTTTTTTCTTCTGGTAATAGGATTCATTTCTTCTCAGTACATAAATTTCGGAGCTATTGATGACAGCACAAAAAACAAA... | AAGCCAATAAAATAATCTAATTTCTCTCCCATTTGCTTGAACTTACTTGACAAGGATCTAAAATGTGGCGCAAGGTAGAATGCAGCAATTTAAAACCAAAATTAGGAGGCCTATTTCCAGTTTAGTTATTTTGTTAGCTAGCTTCAAGTAAACCTTCCCAGATCAGTTTCCTCATTTGTAATATTTGGTGGAGAAAAGTGATATATTCCATATGTCTGGTATATTCCAAGTGACATATTATTTTTTTTCTTCTGGTAATAGGATTCATTTCTTCTCAGTACATAAATTTCGGAGCTATTGATGACAGCACAAAAAACAAA... | benign | 12,703 |
Variant in COL11A1 (collagen type XI alpha 1 chain), chromosome 1, position 103005900—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AAGCCAATAAAATAATCTAATTTCTCTCCCATTTGCTTGAACTTACTTGACAAGGATCTAAAATGTGGCGCAAGGTAGAATGCAGCAATTTAAAACCAAAATTAGGAGGCCTATTTCCAGTTTAGTTATTTTGTTAGCTAGCTTCAAGTAAACCTTCCCAGATCAGTTTCCTCATTTGTAATATTTGGTGGAGAAAAGTGATATATTCCATATGTCTGGTATATTCCAAGTGACATATTATTTTTTTTCTTCTGGTAATAGGATTCATTTCTTCTCAGTACATAAATTTCGGAGCTATTGATGACAGCACAAAAAACAAA... | AAGCCAATAAAATAATCTAATTTCTCTCCCATTTGCTTGAACTTACTTGACAAGGATCTAAAATGTGGCGCAAGGTAGAATGCAGCAATTTAAAACCAAAATTAGGAGGCCTATTTCCAGTTTAGTTATTTTGTTAGCTAGCTTCAAGTAAACCTTCCCAGATCAGTTTCCTCATTTGTAATATTTGGTGGAGAAAAGTGATATATTCCATATGTCTGGTATATTCCAAGTGACATATTATTTTTTTTCTTCTGGTAATAGGATTCATTTCTTCTCAGTACATAAATTTCGGAGCTATTGATGACAGCACAAAAAACAAA... | benign | 12,704 |
Considering the genetic mutation at chromosome 1, position 103008517, impacting COL11A1 (collagen type XI alpha 1 chain): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Stickler_syndrome', 'Stickler_syndrome_type_2'] | AAAGCAGAAGACAAAAGGTTCATATCAAATAAATACCTATTTTTTCTAAATGGCTCCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCTAGGCTGGAGCCCAGCGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAGCATGGTCTCGGTCTCCTGACCTTGTGATCCACCCATCTCGGCCTCCCA... | AAAGCAGAAGACAAAAGGTTCATATCAAATAAATACCTATTTTTTCTAAATGGCTCCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCTAGGCTGGAGCCCAGCGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAGCATGGTCTCGGTCTCCTGACCTTGTGATCCACCCATCTCGGCCTCCCA... | pathogenic | 12,709 |
Is chromosome 1, position 103022795, gene COL11A1 (collagen type XI alpha 1 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Stickler_syndrome_type_2'] | ATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTATATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTGTCAGGTTTGTCAAAGGTCAGATAGTTGTAGATATGCAGCGTTATTTCTGAGGGCTCTGTTCTGTCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTTTTTATTCTTTATCATTTTTCTTTCTCTGTTTTTTTTTGAAATTTTTATGTCCTTACAATTTCTGAAATGATTTTCGT... | ATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTATATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTGTCAGGTTTGTCAAAGGTCAGATAGTTGTAGATATGCAGCGTTATTTCTGAGGGCTCTGTTCTGTCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTTTTTATTCTTTATCATTTTTCTTTCTCTGTTTTTTTTTGAAATTTTTATGTCCTTACAATTTCTGAAATGATTTTCGT... | pathogenic | 12,723 |
Gene COL11A1 (collagen type XI alpha 1 chain) variant at chromosome 1, position 103022796—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | TCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTATATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTGTCAGGTTTGTCAAAGGTCAGATAGTTGTAGATATGCAGCGTTATTTCTGAGGGCTCTGTTCTGTCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTTTTTATTCTTTATCATTTTTCTTTCTCTGTTTTTTTTTGAAATTTTTATGTCCTTACAATTTCTGAAATGATTTTCGTG... | TCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTATATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTGTCAGGTTTGTCAAAGGTCAGATAGTTGTAGATATGCAGCGTTATTTCTGAGGGCTCTGTTCTGTCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTTTTTATTCTTTATCATTTTTCTTTCTCTGTTTTTTTTTGAAATTTTTATGTCCTTACAATTTCTGAAATGATTTTCGTG... | pathogenic | 12,724 |
Assess the variant on chromosome 1, position 103023009, impacting COL11A1 (collagen type XI alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AAATAACGCTGCATATCTACAACTATCTTTTTATTCTTTATCATTTTTCTTTCTCTGTTTTTTTTTGAAATTTTTATGTCCTTACAATTTCTGAAATGATTTTCGTGTTGTTCTACCTTCAGTTCTAATACATTAGTTTTTCTGAATTGTTTATTAGCAGGAAACAATGGCAAAACCGCTTCCAAGTAAGAATCTGTTTCTTAGCAATATTATTAGTAATAATATTGATATAAATTTTAAAAGATTAATTTGGAGTGAATTAGAGATTCTTCTGTAGATGAAAAGGAAGTAAAAAATATCATATGACACAATTTGGATAT... | AAATAACGCTGCATATCTACAACTATCTTTTTATTCTTTATCATTTTTCTTTCTCTGTTTTTTTTTGAAATTTTTATGTCCTTACAATTTCTGAAATGATTTTCGTGTTGTTCTACCTTCAGTTCTAATACATTAGTTTTTCTGAATTGTTTATTAGCAGGAAACAATGGCAAAACCGCTTCCAAGTAAGAATCTGTTTCTTAGCAATATTATTAGTAATAATATTGATATAAATTTTAAAAGATTAATTTGGAGTGAATTAGAGATTCTTCTGTAGATGAAAAGGAAGTAAAAAATATCATATGACACAATTTGGATAT... | benign | 12,727 |
Is chromosome 1, position 103031249, gene COL11A1 (collagen type XI alpha 1 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TGACATATTTATTAATCCAAATTAGAATAATAAACATGCAATGCCAGAAGTTTATTAGTGAACAAGTAAGTAATATAAAGTACATGTATGGCTGATGCTCCATATTGCACTTTATGTTCTTTATTCATTGGCAACCAACATTGCATTATTAATTTATATAGGTAGAACTTCTGAAGATGAATTATTTATATGCGTTATCATATAATGACATATTAATAGATATAGTTTAAAATTAATATAAGCACTACTTACTAATTCAATTAAGTAGTTTTTGATGCTGGTATAGATGCTTATCTTATTATTGAAGGATCAACATAATT... | TGACATATTTATTAATCCAAATTAGAATAATAAACATGCAATGCCAGAAGTTTATTAGTGAACAAGTAAGTAATATAAAGTACATGTATGGCTGATGCTCCATATTGCACTTTATGTTCTTTATTCATTGGCAACCAACATTGCATTATTAATTTATATAGGTAGAACTTCTGAAGATGAATTATTTATATGCGTTATCATATAATGACATATTAATAGATATAGTTTAAAATTAATATAAGCACTACTTACTAATTCAATTAAGTAGTTTTTGATGCTGGTATAGATGCTTATCTTATTATTGAAGGATCAACATAATT... | benign | 12,743 |
Chromosome 1, position 103031249, gene COL11A1 (collagen type XI alpha 1 chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TGACATATTTATTAATCCAAATTAGAATAATAAACATGCAATGCCAGAAGTTTATTAGTGAACAAGTAAGTAATATAAAGTACATGTATGGCTGATGCTCCATATTGCACTTTATGTTCTTTATTCATTGGCAACCAACATTGCATTATTAATTTATATAGGTAGAACTTCTGAAGATGAATTATTTATATGCGTTATCATATAATGACATATTAATAGATATAGTTTAAAATTAATATAAGCACTACTTACTAATTCAATTAAGTAGTTTTTGATGCTGGTATAGATGCTTATCTTATTATTGAAGGATCAACATAATT... | TGACATATTTATTAATCCAAATTAGAATAATAAACATGCAATGCCAGAAGTTTATTAGTGAACAAGTAAGTAATATAAAGTACATGTATGGCTGATGCTCCATATTGCACTTTATGTTCTTTATTCATTGGCAACCAACATTGCATTATTAATTTATATAGGTAGAACTTCTGAAGATGAATTATTTATATGCGTTATCATATAATGACATATTAATAGATATAGTTTAAAATTAATATAAGCACTACTTACTAATTCAATTAAGTAGTTTTTGATGCTGGTATAGATGCTTATCTTATTATTGAAGGATCAACATAATT... | benign | 12,744 |
Is the genetic variant on chromosome 1, position 103031249, gene COL11A1 (collagen type XI alpha 1 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TGACATATTTATTAATCCAAATTAGAATAATAAACATGCAATGCCAGAAGTTTATTAGTGAACAAGTAAGTAATATAAAGTACATGTATGGCTGATGCTCCATATTGCACTTTATGTTCTTTATTCATTGGCAACCAACATTGCATTATTAATTTATATAGGTAGAACTTCTGAAGATGAATTATTTATATGCGTTATCATATAATGACATATTAATAGATATAGTTTAAAATTAATATAAGCACTACTTACTAATTCAATTAAGTAGTTTTTGATGCTGGTATAGATGCTTATCTTATTATTGAAGGATCAACATAATT... | TGACATATTTATTAATCCAAATTAGAATAATAAACATGCAATGCCAGAAGTTTATTAGTGAACAAGTAAGTAATATAAAGTACATGTATGGCTGATGCTCCATATTGCACTTTATGTTCTTTATTCATTGGCAACCAACATTGCATTATTAATTTATATAGGTAGAACTTCTGAAGATGAATTATTTATATGCGTTATCATATAATGACATATTAATAGATATAGTTTAAAATTAATATAAGCACTACTTACTAATTCAATTAAGTAGTTTTTGATGCTGGTATAGATGCTTATCTTATTATTGAAGGATCAACATAATT... | benign | 12,745 |
Does the variant on chromosome 1 at location 103031249 affecting gene COL11A1 (collagen type XI alpha 1 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TGACATATTTATTAATCCAAATTAGAATAATAAACATGCAATGCCAGAAGTTTATTAGTGAACAAGTAAGTAATATAAAGTACATGTATGGCTGATGCTCCATATTGCACTTTATGTTCTTTATTCATTGGCAACCAACATTGCATTATTAATTTATATAGGTAGAACTTCTGAAGATGAATTATTTATATGCGTTATCATATAATGACATATTAATAGATATAGTTTAAAATTAATATAAGCACTACTTACTAATTCAATTAAGTAGTTTTTGATGCTGGTATAGATGCTTATCTTATTATTGAAGGATCAACATAATT... | TGACATATTTATTAATCCAAATTAGAATAATAAACATGCAATGCCAGAAGTTTATTAGTGAACAAGTAAGTAATATAAAGTACATGTATGGCTGATGCTCCATATTGCACTTTATGTTCTTTATTCATTGGCAACCAACATTGCATTATTAATTTATATAGGTAGAACTTCTGAAGATGAATTATTTATATGCGTTATCATATAATGACATATTAATAGATATAGTTTAAAATTAATATAAGCACTACTTACTAATTCAATTAAGTAGTTTTTGATGCTGGTATAGATGCTTATCTTATTATTGAAGGATCAACATAATT... | benign | 12,746 |
Gene mutation in COL11A1 (collagen type XI alpha 1 chain) at chromosome 1, position 103031254—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TATTTATTAATCCAAATTAGAATAATAAACATGCAATGCCAGAAGTTTATTAGTGAACAAGTAAGTAATATAAAGTACATGTATGGCTGATGCTCCATATTGCACTTTATGTTCTTTATTCATTGGCAACCAACATTGCATTATTAATTTATATAGGTAGAACTTCTGAAGATGAATTATTTATATGCGTTATCATATAATGACATATTAATAGATATAGTTTAAAATTAATATAAGCACTACTTACTAATTCAATTAAGTAGTTTTTGATGCTGGTATAGATGCTTATCTTATTATTGAAGGATCAACATAATTTAGAG... | TATTTATTAATCCAAATTAGAATAATAAACATGCAATGCCAGAAGTTTATTAGTGAACAAGTAAGTAATATAAAGTACATGTATGGCTGATGCTCCATATTGCACTTTATGTTCTTTATTCATTGGCAACCAACATTGCATTATTAATTTATATAGGTAGAACTTCTGAAGATGAATTATTTATATGCGTTATCATATAATGACATATTAATAGATATAGTTTAAAATTAATATAAGCACTACTTACTAATTCAATTAAGTAGTTTTTGATGCTGGTATAGATGCTTATCTTATTATTGAAGGATCAACATAATTTAGAG... | benign | 12,747 |
Mutation found at chromosome 1 position 103078887, gene COL11A1 (collagen type XI alpha 1 chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CAGACTGCCAGCCAAGCGGTGGCTAATAGATAAATACTTATGGAATGAATGTTCACTCATGATGAATGTCATGATTGTTCTTTAAAAACATCACAGTGTGCTTAAATACCAATATTTTTGCATCTAAATTATTATGGCAGTTGAGCTCAACAAGTATGTCACTTTTTAACTGTCTCAAGTAAAAGTATAGGACCTACCTAGCACACAGTAAGCATTTAATAAATTGTTATTGAAGGAATATACAAATGAAAAAAATTAATACTACTAGGTATTAACTGTATTCAACATATTATCAAGATAATATTTTACTACTGTGATAT... | CAGACTGCCAGCCAAGCGGTGGCTAATAGATAAATACTTATGGAATGAATGTTCACTCATGATGAATGTCATGATTGTTCTTTAAAAACATCACAGTGTGCTTAAATACCAATATTTTTGCATCTAAATTATTATGGCAGTTGAGCTCAACAAGTATGTCACTTTTTAACTGTCTCAAGTAAAAGTATAGGACCTACCTAGCACACAGTAAGCATTTAATAAATTGTTATTGAAGGAATATACAAATGAAAAAAATTAATACTACTAGGTATTAACTGTATTCAACATATTATCAAGATAATATTTTACTACTGTGATAT... | benign | 12,761 |
Determine whether the variant at chromosome 1, position 108898026, in gene GPSM2 (G protein signaling modulator 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases'] | CAATTTAAAGGAAATTTGCCAAATTACAGAAATAATTAAACGAATAGGTAGTTCCTACATATGGCAGAAATCATGAAGATGCTGAAGAAACACAATGGCAACTTTGGTGAAGGGCACCCTCTAAAATTTAGGATTTGAATCCAAAGTATCAGTGTTTTTTTCTCCCAGATATGTTTACAGTGACTTAATCCTTCTTTTTCAATTCAGGGACAGACTTTCAAAATTAGTATTTCTGCAAATTTTTGAATCATTGTTTTCTAACTTAGTTTCTTGACACCTAGTTCTCTTGTGAAAATGTGTCTTACAGATCAAGAATATTT... | CAATTTAAAGGAAATTTGCCAAATTACAGAAATAATTAAACGAATAGGTAGTTCCTACATATGGCAGAAATCATGAAGATGCTGAAGAAACACAATGGCAACTTTGGTGAAGGGCACCCTCTAAAATTTAGGATTTGAATCCAAAGTATCAGTGTTTTTTTCTCCCAGATATGTTTACAGTGACTTAATCCTTCTTTTTCAATTCAGGGACAGACTTTCAAAATTAGTATTTCTGCAAATTTTTGAATCATTGTTTTCTAACTTAGTTTCTTGACACCTAGTTCTCTTGTGAAAATGTGTCTTACAGATCAAGAATATTT... | pathogenic | 12,840 |
Gene GPSM2 (G protein signaling modulator 2) variant at chromosome position 108898937 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Chudley-McCullough_syndrome', 'GPSM2-related_disorder', 'Rare_genetic_deafness'] | GCCTTGGAAGGGGAACGTCTATGTAAATCAGGAGACTGCCGCGCTGGCGTGTCATTCTTTGAAGCTGCAGTTCAAGTTGGAACTGAAGACCTAAAAACACTTAGCGCTATTTACAGCCAGTTGGGCAATGCTTATTTCTATTTGCATGATTATGCCAAAGCATTAGAATATCACCATCATGATTTAACCCTTGCAAGGTAATTAATTTAAGCTTTTAAATATTCTTCCTTCTGAAATTAGCTATTACTTTAAAAAATATTTCTATTCAATTAACAAAAACTAACTTAATACATTTAATGAGTTCTACTTCAGTAACATCG... | GCCTTGGAAGGGGAACGTCTATGTAAATCAGGAGACTGCCGCGCTGGCGTGTCATTCTTTGAAGCTGCAGTTCAAGTTGGAACTGAAGACCTAAAAACACTTAGCGCTATTTACAGCCAGTTGGGCAATGCTTATTTCTATTTGCATGATTATGCCAAAGCATTAGAATATCACCATCATGATTTAACCCTTGCAAGGTAATTAATTTAAGCTTTTAAATATTCTTCCTTCTGAAATTAGCTATTACTTTAAAAAATATTTCTATTCAATTAACAAAAACTAACTTAATACATTTAATGAGTTCTACTTCAGTAACATCG... | pathogenic | 12,845 |
Chromosome 1, position 108904140, gene GPSM2 (G protein signaling modulator 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | TGTATGAAGGGCTAGTCTGTGATAGAGGATTAGTCTGGTTCCATATGCCCTTGACCCAAGATCAATGACTAGGTCCCAAACTCAATTACCTCTTCAGAAGTCTTCCTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACGCTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCGCTCCAGCCTGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAAAAAGTTTTCCTAACTAC... | TGTATGAAGGGCTAGTCTGTGATAGAGGATTAGTCTGGTTCCATATGCCCTTGACCCAAGATCAATGACTAGGTCCCAAACTCAATTACCTCTTCAGAAGTCTTCCTGGTGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCACGCTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCGCTCCAGCCTGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAAAAAGTTTTCCTAACTAC... | pathogenic | 12,857 |
Considering the variant on chromosome 1, location 108922446, involving gene GPSM2 (G protein signaling modulator 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Chudley-McCullough_syndrome', 'GPSM2-related_disorder', 'Rare_genetic_deafness'] | GGTGGAGGTTGCAGCGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTTAAAAAGAGTAAAATAAATAAAATCCATTTTTCCAGCAATGAGAGCCTTTGCAAAAAAAAAGCCTTTTTTTTTTAAATTAGAGATTTCTTTTGTCAGCATTTCATTTATACCTACACCTTTGTGTAGTATCTTTTGTCTCGATTTCTTTCCCCCCAGTCTGTGGTATTGTTATAGAATGCCTCGATTTTTATCAGTGGTTTCTTACATAGCTTTTCTGGGGTAGCTATGACTAATAAAAGGAAAAATTAT... | GGTGGAGGTTGCAGCGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTTAAAAAGAGTAAAATAAATAAAATCCATTTTTCCAGCAATGAGAGCCTTTGCAAAAAAAAAGCCTTTTTTTTTTAAATTAGAGATTTCTTTTGTCAGCATTTCATTTATACCTACACCTTTGTGTAGTATCTTTTGTCTCGATTTCTTTCCCCCCAGTCTGTGGTATTGTTATAGAATGCCTCGATTTTTATCAGTGGTTTCTTACATAGCTTTTCTGGGGTAGCTATGACTAATAAAAGGAAAAATTAT... | pathogenic | 12,864 |
Gene GPSM2 (G protein signaling modulator 2) variant at chromosome 1, position 108922474—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Chudley-McCullough_syndrome'] | GCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTTAAAAAGAGTAAAATAAATAAAATCCATTTTTCCAGCAATGAGAGCCTTTGCAAAAAAAAAGCCTTTTTTTTTTAAATTAGAGATTTCTTTTGTCAGCATTTCATTTATACCTACACCTTTGTGTAGTATCTTTTGTCTCGATTTCTTTCCCCCCAGTCTGTGGTATTGTTATAGAATGCCTCGATTTTTATCAGTGGTTTCTTACATAGCTTTTCTGGGGTAGCTATGACTAATAAAAGGAAAAATTATGGGGTATATAGAAATTCAGGGATATTTT... | GCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTTAAAAAGAGTAAAATAAATAAAATCCATTTTTCCAGCAATGAGAGCCTTTGCAAAAAAAAAGCCTTTTTTTTTTAAATTAGAGATTTCTTTTGTCAGCATTTCATTTATACCTACACCTTTGTGTAGTATCTTTTGTCTCGATTTCTTTCCCCCCAGTCTGTGGTATTGTTATAGAATGCCTCGATTTTTATCAGTGGTTTCTTACATAGCTTTTCTGGGGTAGCTATGACTAATAAAAGGAAAAATTATGGGGTATATAGAAATTCAGGGATATTTT... | pathogenic | 12,866 |
Does the genetic variant at chromosome 1, position 108922534, impacting gene GPSM2 (G protein signaling modulator 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TAAAATCCATTTTTCCAGCAATGAGAGCCTTTGCAAAAAAAAAGCCTTTTTTTTTTAAATTAGAGATTTCTTTTGTCAGCATTTCATTTATACCTACACCTTTGTGTAGTATCTTTTGTCTCGATTTCTTTCCCCCCAGTCTGTGGTATTGTTATAGAATGCCTCGATTTTTATCAGTGGTTTCTTACATAGCTTTTCTGGGGTAGCTATGACTAATAAAAGGAAAAATTATGGGGTATATAGAAATTCAGGGATATTTTTGTAGGTCTAGAGCAGGACTGGAATTCAAGGAAGCCATGCCTTTGTTCAAGGTTTGGGGT... | TAAAATCCATTTTTCCAGCAATGAGAGCCTTTGCAAAAAAAAAGCCTTTTTTTTTTAAATTAGAGATTTCTTTTGTCAGCATTTCATTTATACCTACACCTTTGTGTAGTATCTTTTGTCTCGATTTCTTTCCCCCCAGTCTGTGGTATTGTTATAGAATGCCTCGATTTTTATCAGTGGTTTCTTACATAGCTTTTCTGGGGTAGCTATGACTAATAAAAGGAAAAATTATGGGGTATATAGAAATTCAGGGATATTTTTGTAGGTCTAGAGCAGGACTGGAATTCAAGGAAGCCATGCCTTTGTTCAAGGTTTGGGGT... | benign | 12,867 |
Variant on chromosome 1, at position 108922543, affecting GPSM2 (G protein signaling modulator 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTTTTCCAGCAATGAGAGCCTTTGCAAAAAAAAAGCCTTTTTTTTTTAAATTAGAGATTTCTTTTGTCAGCATTTCATTTATACCTACACCTTTGTGTAGTATCTTTTGTCTCGATTTCTTTCCCCCCAGTCTGTGGTATTGTTATAGAATGCCTCGATTTTTATCAGTGGTTTCTTACATAGCTTTTCTGGGGTAGCTATGACTAATAAAAGGAAAAATTATGGGGTATATAGAAATTCAGGGATATTTTTGTAGGTCTAGAGCAGGACTGGAATTCAAGGAAGCCATGCCTTTGTTCAAGGTTTGGGGTCTTAACTAA... | TTTTTCCAGCAATGAGAGCCTTTGCAAAAAAAAAGCCTTTTTTTTTTAAATTAGAGATTTCTTTTGTCAGCATTTCATTTATACCTACACCTTTGTGTAGTATCTTTTGTCTCGATTTCTTTCCCCCCAGTCTGTGGTATTGTTATAGAATGCCTCGATTTTTATCAGTGGTTTCTTACATAGCTTTTCTGGGGTAGCTATGACTAATAAAAGGAAAAATTATGGGGTATATAGAAATTCAGGGATATTTTTGTAGGTCTAGAGCAGGACTGGAATTCAAGGAAGCCATGCCTTTGTTCAAGGTTTGGGGTCTTAACTAA... | benign | 12,868 |
Regarding the variant at chromosome 1 and position 109626838, affecting gene AMPD2 (adenosine monophosphate deaminase 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_spastic_paraplegia_63', 'Pontocerebellar_hypoplasia_type_9', 'Pontoneocerebellar_hypoplasia'] | CCCTGCCCCTTTGAGTGGAGAATCTGCTAGTCCAGGGGCGGGTCTGATCCTGGGTTGCCTGCCCTGGGAGCTGCAGGCTGGGGGTCCCTGGTGTGGCCGCCTGGTCCTTACCAAGCACCTGGTGTGTGTCTCTGAGGGTGTCTGTGTGCGTACGTGCATGTGTGTGCACACGTACACACGTGCACCTGCCTCTGGGAGGTAGTCACGTGGAGATTCTCATGGCCTGAGGGATCAGGCTCTAGTCTCATTTGTGGAGGTAATGAATCTACTTGTTCTAGGGGCAGACTCAGAATCCCCACCCCAAGCCTGGAATGGGTGAG... | CCCTGCCCCTTTGAGTGGAGAATCTGCTAGTCCAGGGGCGGGTCTGATCCTGGGTTGCCTGCCCTGGGAGCTGCAGGCTGGGGGTCCCTGGTGTGGCCGCCTGGTCCTTACCAAGCACCTGGTGTGTGTCTCTGAGGGTGTCTGTGTGCGTACGTGCATGTGTGTGCACACGTACACACGTGCACCTGCCTCTGGGAGGTAGTCACGTGGAGATTCTCATGGCCTGAGGGATCAGGCTCTAGTCTCATTTGTGGAGGTAATGAATCTACTTGTTCTAGGGGCAGACTCAGAATCCCCACCCCAAGCCTGGAATGGGTGAG... | pathogenic | 13,016 |
The chromosome 1, position 110602237 genetic variant in gene KCNA2 (potassium voltage-gated channel subfamily A member 2): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TGTCTGCATTTCATGTGTATTGTGCGATATTTTTGGGCATGTGTGCTATGTATCTTGTATGCCTATTATAAGTTAATGCATCGTGTGTATATACTGAGTTTGTGTGTATTTTATGTGTAGAAACAATGGTAAAGTAGCCTTTGTGTATCTTATATGCATATGCATTTTGTCCATGTAGTTTTTTATGTATTTTGCATCTGAGTTTCAGGTTGTATATTTGTATGTGGTGTATGTTTGTCTTTTGTGTATGTTCTGTGTAAATTCTATATCTGTGCAGAGTGTGCATTTTATATACAATTATAACCATATATCTTCTGTGT... | TGTCTGCATTTCATGTGTATTGTGCGATATTTTTGGGCATGTGTGCTATGTATCTTGTATGCCTATTATAAGTTAATGCATCGTGTGTATATACTGAGTTTGTGTGTATTTTATGTGTAGAAACAATGGTAAAGTAGCCTTTGTGTATCTTATATGCATATGCATTTTGTCCATGTAGTTTTTTATGTATTTTGCATCTGAGTTTCAGGTTGTATATTTGTATGTGGTGTATGTTTGTCTTTTGTGTATGTTCTGTGTAAATTCTATATCTGTGCAGAGTGTGCATTTTATATACAATTATAACCATATATCTTCTGTGT... | benign | 13,091 |
For chromosome 1, position 110603516, gene KCNA2 (potassium voltage-gated channel subfamily A member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_32', 'Seizure'] | GAACAGGATGAACTGTAGAGAGGAGGCCCGGGGTGGGTCTGGCCCAGGACAGCTGGAACTGTGAGGGCCACAGGGCCCTTGTGCACTCAGTAAGACAAGCTTCAGCCATGGGAACTGAAGCTGCAGCACATGGAGGGCAGAAAGACAATTCTAACGTCTAGGAATCCATGGATACCGGAGTGTCTGAGGCAATGGCAGCAAACCCAGGCCCAGTGGGGTTACCAATGAGACAAATTAACCCATTAGGCCTCTTAGACAGCCAACCCACCAAGCAGTGGATTTGCTCCTGAACCTGAACTCCAGAAAATGAATATATATAT... | GAACAGGATGAACTGTAGAGAGGAGGCCCGGGGTGGGTCTGGCCCAGGACAGCTGGAACTGTGAGGGCCACAGGGCCCTTGTGCACTCAGTAAGACAAGCTTCAGCCATGGGAACTGAAGCTGCAGCACATGGAGGGCAGAAAGACAATTCTAACGTCTAGGAATCCATGGATACCGGAGTGTCTGAGGCAATGGCAGCAAACCCAGGCCCAGTGGGGTTACCAATGAGACAAATTAACCCATTAGGCCTCTTAGACAGCCAACCCACCAAGCAGTGGATTTGCTCCTGAACCTGAACTCCAGAAAATGAATATATATAT... | pathogenic | 13,098 |
Assess the variant on chromosome 1, position 110604009, impacting KCNA2 (potassium voltage-gated channel subfamily A member 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_32'] | CTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAGGTCTGCGTTCCTGTTTAGAAGAACAGGGATAGGTAGGCTGGGGGGCCAGAAGTTTTAGTTCCATTCCAAATAGTCTATTTTTTTTCCCCTGATGGAGGGATTTTTGCCTTCTGATGGGAA... | CTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAGGTCTGCGTTCCTGTTTAGAAGAACAGGGATAGGTAGGCTGGGGGGCCAGAAGTTTTAGTTCCATTCCAAATAGTCTATTTTTTTTCCCCTGATGGAGGGATTTTTGCCTTCTGATGGGAA... | pathogenic | 13,119 |
Mutation found at chromosome 1 position 111131474, gene DRAM2 (DNA damage regulated autophagy modulator 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cone-rod_dystrophy_21'] | ATAATAACGTTTTAATAATTATGTTTCCTTCATCTCCCTGCCCTATGTAATTTATTTAACTTTTATAGAGAAGTTTAAGTCTCAATAGCTCAGAAACCATTCATATAATTATGATTTCCTCATATCCTTTTTGTGAATGCATAAACTGATGCAACAATTCTAAAGATACATTTGGAAATGTCAAATGAAAAATGTAGATGCCCTATTACCTATCTAGCAATCTCACTTCTAGAAATCTACCTCATATCAACATCAGTATGTAAAGTTGTATGTAATGAAACCTTCATTATAGTACTGTTTGTAACAGCCAAAAAAAAGGG... | ATAATAACGTTTTAATAATTATGTTTCCTTCATCTCCCTGCCCTATGTAATTTATTTAACTTTTATAGAGAAGTTTAAGTCTCAATAGCTCAGAAACCATTCATATAATTATGATTTCCTCATATCCTTTTTGTGAATGCATAAACTGATGCAACAATTCTAAAGATACATTTGGAAATGTCAAATGAAAAATGTAGATGCCCTATTACCTATCTAGCAATCTCACTTCTAGAAATCTACCTCATATCAACATCAGTATGTAAAGTTGTATGTAATGAAACCTTCATTATAGTACTGTTTGTAACAGCCAAAAAAAAGGG... | pathogenic | 13,147 |
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