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 1, position 9244919, in gene H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TTCTCTCCAGACGAGCGATTGCCGGTTGAGGAAAAAACGCTTGAAGGGCCAAGGACAGGGACTGGAAAGCAGGAGGAAAAAGCAGAATGGTCCTGTGGTCCGTGTGTGTATTTAGGGGTGAGGGCAGATACAGGGAGAGTGGGAGAGGAAGGCTGGGGAGCCACCCGTGTGGCCCTGATCCTCTAGTTAAAGCTCCAGTGATGGACGCGTCGTGTGTCCTGTAGACACTGGCTCAGACACTGTGGTTGGGTCCTCACCTTGGGTTGGTCCCTCACTAGGACCCTCTTGGAGATGGATCTTGAGAGAGATGAGGAAGAGGC... | TTCTCTCCAGACGAGCGATTGCCGGTTGAGGAAAAAACGCTTGAAGGGCCAAGGACAGGGACTGGAAAGCAGGAGGAAAAAGCAGAATGGTCCTGTGGTCCGTGTGTGTATTTAGGGGTGAGGGCAGATACAGGGAGAGTGGGAGAGGAAGGCTGGGGAGCCACCCGTGTGGCCCTGATCCTCTAGTTAAAGCTCCAGTGATGGACGCGTCGTGTGTCCTGTAGACACTGGCTCAGACACTGTGGTTGGGTCCTCACCTTGGGTTGGTCCCTCACTAGGACCCTCTTGGAGATGGATCTTGAGAGAGATGAGGAAGAGGC... | benign | 1,859 |
Is the genetic mutation found on chromosome 1 at position 9981092, within the gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Leber_congenital_amaurosis_9'] | ATTAGTCAGTGTCCTCTGTCAATGGGGTAATAAACAATTCTGATATGAGAGATGAGCAGCACATTAAAACCAGAAGTATTTTCAGTGAAACTAGCTGCAAGGTGGCAGTAATATAGTCGCTTTGTAATAACCAAAATGTTCAGGCTGATCATGGTGGCTCACATCTATAGTCCCAGCACTTTGGGAGTCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGTGTGGGCAACATAGTGAGACCTCATCTCTCCAAAAAACTAAAGTTAGCTGAACATGGTGGCACGTGCCTGTAGTCGCAGCTATCTGGGAG... | ATTAGTCAGTGTCCTCTGTCAATGGGGTAATAAACAATTCTGATATGAGAGATGAGCAGCACATTAAAACCAGAAGTATTTTCAGTGAAACTAGCTGCAAGGTGGCAGTAATATAGTCGCTTTGTAATAACCAAAATGTTCAGGCTGATCATGGTGGCTCACATCTATAGTCCCAGCACTTTGGGAGTCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGTGTGGGCAACATAGTGAGACCTCATCTCTCCAAAAAACTAAAGTTAGCTGAACATGGTGGCACGTGCCTGTAGTCGCAGCTATCTGGGAG... | pathogenic | 1,979 |
Variant on chromosome 1, at position 10258485, affecting KIF1B (kinesin family member 1B): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TAGCATGAGTTCATTCTTTGATACAGTGATATAGTATTTTCATTCATAAAGTATTTGGGTTGATGGAAAGTTTATGTACACATATACATAAATATATACACATATATACATACAGAACATATTTAGTTTACACCAAATTTATACTGAATGTACACTAAATTTATACTGATTTAGACATTTCTTGAGGATTTATTTATCAGTATCTTAGGATCCTCATTACCAACATTATTGCCCATTGATCTTAGGAAATGCCAAATAATAATAATAATTATTATTATTATTATTTTTCTTCTGAGACGGAGTCTCACTCTGTCGCCCAG... | TAGCATGAGTTCATTCTTTGATACAGTGATATAGTATTTTCATTCATAAAGTATTTGGGTTGATGGAAAGTTTATGTACACATATACATAAATATATACACATATATACATACAGAACATATTTAGTTTACACCAAATTTATACTGAATGTACACTAAATTTATACTGATTTAGACATTTCTTGAGGATTTATTTATCAGTATCTTAGGATCCTCATTACCAACATTATTGCCCATTGATCTTAGGAAATGCCAAATAATAATAATAATTATTATTATTATTATTTTTCTTCTGAGACGGAGTCTCACTCTGTCGCCCAG... | benign | 2,005 |
Does the variant on chromosome 1 at location 10267565 affecting gene KIF1B (kinesin family member 1B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TGAGCCACCATGCCCAGCCTTTAACTGATTTTAAAACACAAATTAAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCTGCACTTTGGGAGGCCAAGATGGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTGGTGAGACCCTGTCTCTGCAAAAAAAAATTTTTTTTAATTAGCTAGGCATGGTGGCACGTGCCTGTAGTCCCAGTTACTCCAGAGGCTGAGGCAGGAGGATTGCTTAAGCCCAGGAAGTCGAGGCTGCAGTGAGCCATGTTTGAGCCACTGCACTCCAGCCTGGGTGACAGAGT... | TGAGCCACCATGCCCAGCCTTTAACTGATTTTAAAACACAAATTAAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCTGCACTTTGGGAGGCCAAGATGGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTGGTGAGACCCTGTCTCTGCAAAAAAAAATTTTTTTTAATTAGCTAGGCATGGTGGCACGTGCCTGTAGTCCCAGTTACTCCAGAGGCTGAGGCAGGAGGATTGCTTAAGCCCAGGAAGTCGAGGCTGCAGTGAGCCATGTTTGAGCCACTGCACTCCAGCCTGGGTGACAGAGT... | benign | 2,037 |
Gene mutation in KIF1B (kinesin family member 1B) at chromosome 1, position 10297148—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TAACCTCAATGAAGACCCACTAATGTCTGAGTGCCTACTTTATTACATCAAAGATGGAATTACAAGGTATATTTATTTCCTGTTTTGGTCACTTCGTGTGTTTTCCCCCTCTTAGATAATTGAATAACTAAAGGGAAGGGGTTGAAAAAATTAACGTAATGATTTGCTGTATTTTTTGTCTGAAATAGTTACAAACTATGCTCTCTTTCCAAATAATGTGTTTTTGCCACTGGAGCCAGTTACTATGTAGTTTTTCTCTGAAGACCCTAAATAATTTTTTTTTCCTTTAACAAATATACATTCCTTAGGGATTTTATTTG... | TAACCTCAATGAAGACCCACTAATGTCTGAGTGCCTACTTTATTACATCAAAGATGGAATTACAAGGTATATTTATTTCCTGTTTTGGTCACTTCGTGTGTTTTCCCCCTCTTAGATAATTGAATAACTAAAGGGAAGGGGTTGAAAAAATTAACGTAATGATTTGCTGTATTTTTTGTCTGAAATAGTTACAAACTATGCTCTCTTTCCAAATAATGTGTTTTTGCCACTGGAGCCAGTTACTATGTAGTTTTTCTCTGAAGACCCTAAATAATTTTTTTTTCCTTTAACAAATATACATTCCTTAGGGATTTTATTTG... | benign | 2,116 |
Is the variant located on chromosome 1 at position 10339753, gene KIF1B (kinesin family member 1B), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TGTCCTGGAATGCAACAGGGTTCCCTGGCAGGAGGAGCATGCTGCACATCCTGCTGCAGGGCTCTGCTGTGAGCGGTCCCCCTTTACCAGGAATGTAGGGTCTGATCACATAAGCCTGTTGATGAGTCTTTCTAGTCCTCTTCATGTTGAAATGTCTTATTAATAAGCCTGAAAGCAATGACTTATCTAGCTAGCAATTACGCCTATTTAATACTCGGGAAAAGGAAAATTTAAACAATGTAAAGAAGGATAAATTCTACATCAACTGAAAAAAGCTAGTATGTAGGGAAGATGTGATACCTCTCATTTCTCATCTACAT... | TGTCCTGGAATGCAACAGGGTTCCCTGGCAGGAGGAGCATGCTGCACATCCTGCTGCAGGGCTCTGCTGTGAGCGGTCCCCCTTTACCAGGAATGTAGGGTCTGATCACATAAGCCTGTTGATGAGTCTTTCTAGTCCTCTTCATGTTGAAATGTCTTATTAATAAGCCTGAAAGCAATGACTTATCTAGCTAGCAATTACGCCTATTTAATACTCGGGAAAAGGAAAATTTAAACAATGTAAAGAAGGATAAATTCTACATCAACTGAAAAAAGCTAGTATGTAGGGAAGATGTGATACCTCTCATTTCTCATCTACAT... | benign | 2,211 |
Gene KIF1B (kinesin family member 1B) variant at chromosome 1, position 10375383—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AGTAATTCTCGTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGGGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTAACTTGATTTCAAAAAAAAAAAAGAATGAAGTATGAGAAAAAGTTAAAATGGGCTTTTTAGATTTAGTGAGATACAATGCTATGTTACTCTACAAAGATATCTAGCAATACAGAGTATAG... | AGTAATTCTCGTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGGGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTAACTTGATTTCAAAAAAAAAAAAGAATGAAGTATGAGAAAAAGTTAAAATGGGCTTTTTAGATTTAGTGAGATACAATGCTATGTTACTCTACAAAGATATCTAGCAATACAGAGTATAG... | benign | 2,339 |
Regarding the variant at chromosome 1 and position 10376834, affecting gene KIF1B (kinesin family member 1B): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TTGATGGTCCTCAGCACGATTATTTTCTTTTTGTGAGAAACTAACTTTTGTCATATTGTCGTTTTTAGCTCAGTGGTCTCTAAGAAAGGATACCTTCATTTCAAGGAGCCTCTTTACAGTAACTGGGCTAAACATTTTGTTGTCGTCCGTCGGCCTTATGTCTTCATCTATAACAGTGACAAAGACCCTGTGGAGCGTGGAATCATTAACCTGTCCACAGCACAGGTGGAGTACAGTGAGGACCAGCAGGCCATGGTGAAGGTCCGTCCTGCCCTGCCTTGGTTTCTTATTGCCACGTGTGCCCTTCTCTTTTGATTTCT... | TTGATGGTCCTCAGCACGATTATTTTCTTTTTGTGAGAAACTAACTTTTGTCATATTGTCGTTTTTAGCTCAGTGGTCTCTAAGAAAGGATACCTTCATTTCAAGGAGCCTCTTTACAGTAACTGGGCTAAACATTTTGTTGTCGTCCGTCGGCCTTATGTCTTCATCTATAACAGTGACAAAGACCCTGTGGAGCGTGGAATCATTAACCTGTCCACAGCACAGGTGGAGTACAGTGAGGACCAGCAGGCCATGGTGAAGGTCCGTCCTGCCCTGCCTTGGTTTCTTATTGCCACGTGTGCCCTTCTCTTTTGATTTCT... | benign | 2,348 |
Regarding the variant at chromosome 1 and position 10639086, affecting gene CASZ1 (castor zinc finger 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGCAATGGCTTATAGTCCTAGTGTGCAATATGAAGTTTACAAAAGGCTAGACTCCGCACTGTCGGCATCTTCTTCTTTTCTTCTTTTTTTTTTTTAAGTTTGATTTTGCTACATTGAAAAAATGTTTGTGTGTGTGTGTTTTTTTTTCCTTTACAAAACTCCTTCCACAGACGCCCGGGGCCTGTGGCGGGTCACTGTCTGGGCAGATGCTCACAGCAGCACGTGGTGCCCACAGAGTTCAGGAGGCTCTGGTAGGGGCTGTTTTAGAAAATAACTGATTTCCTGTTGAATCAGGTACGCTCCGTGCGACCACTCCTCCC... | AGCAATGGCTTATAGTCCTAGTGTGCAATATGAAGTTTACAAAAGGCTAGACTCCGCACTGTCGGCATCTTCTTCTTTTCTTCTTTTTTTTTTTTAAGTTTGATTTTGCTACATTGAAAAAATGTTTGTGTGTGTGTGTTTTTTTTTCCTTTACAAAACTCCTTCCACAGACGCCCGGGGCCTGTGGCGGGTCACTGTCTGGGCAGATGCTCACAGCAGCACGTGGTGCCCACAGAGTTCAGGAGGCTCTGGTAGGGGCTGTTTTAGAAAATAACTGATTTCCTGTTGAATCAGGTACGCTCCGTGCGACCACTCCTCCC... | benign | 2,398 |
Classify the chromosome 1 variant at position 10643146 affecting gene CASZ1 (castor zinc finger 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TAGCCACCAAATGTCTGCCCTGCCCATTTCAGGCCAGGCCCCATAGGCCACCCGGAGTGGACAAAAACGGAGAGAGACTAAGGGCTGTGACGGTGTAGGGGCACCCAGGCAGGGGGCAAGGGATGGCCTCAGGCCCAAAACCTGGTGGGTGAGGAGCGGCTTTGGGTCTGAAGTCACAGGGTCTGGTTATGCCAGAGTGGAGCTTCCAACAGCCGGAAGTCCCTGAGGAGGGGGAGGCTCGGCCCTGCCCTGGCCATAACTCCTGGGGCCTGTACTCAGGCAGCACGTGAGGCAAGAATTAGCAGAGGAGTCCGAGCCCG... | TAGCCACCAAATGTCTGCCCTGCCCATTTCAGGCCAGGCCCCATAGGCCACCCGGAGTGGACAAAAACGGAGAGAGACTAAGGGCTGTGACGGTGTAGGGGCACCCAGGCAGGGGGCAAGGGATGGCCTCAGGCCCAAAACCTGGTGGGTGAGGAGCGGCTTTGGGTCTGAAGTCACAGGGTCTGGTTATGCCAGAGTGGAGCTTCCAACAGCCGGAAGTCCCTGAGGAGGGGGAGGCTCGGCCCTGCCCTGGCCATAACTCCTGGGGCCTGTACTCAGGCAGCACGTGAGGCAAGAATTAGCAGAGGAGTCCGAGCCCG... | benign | 2,403 |
Is the genetic variant on chromosome 1, position 11020666, gene TARDBP (TAR DNA binding protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TTAAGCCACTGCATCCAGTTGAAACCATTCAAATTGTTTTCTAAGGAACTATGATTTGGGAATGGAGTGTGTGAGTATGTGCACTTTTAGAGTAAACTTGTATCATCCTTTCTAGGTCAAGAAAGATCTTAAGACTGGTCATTCAAAGGGGTTTGGCTTTGTTCGTTTTACGGAATATGAAACACAAGTGAAAGTAATGTCACAGCGACATATGATAGATGGACGATGGTGTGACTGCAAACTTCCTAATTCTAAGGTACTTGCGTCTGTGCTTTGGGAATTTTTGCCAACAAACTTCCTTAGAGGATTGTAAGATAAAA... | TTAAGCCACTGCATCCAGTTGAAACCATTCAAATTGTTTTCTAAGGAACTATGATTTGGGAATGGAGTGTGTGAGTATGTGCACTTTTAGAGTAAACTTGTATCATCCTTTCTAGGTCAAGAAAGATCTTAAGACTGGTCATTCAAAGGGGTTTGGCTTTGTTCGTTTTACGGAATATGAAACACAAGTGAAAGTAATGTCACAGCGACATATGATAGATGGACGATGGTGTGACTGCAAACTTCCTAATTCTAAGGTACTTGCGTCTGTGCTTTGGGAATTTTTGCCAACAAACTTCCTTAGAGGATTGTAAGATAAAA... | benign | 2,473 |
Is the genetic mutation found on chromosome 1 at position 11112907, within the gene MTOR (mechanistic target of rapamycin kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AACCAAATCCACCACCATCTGGTGCCAGCAGAACTGGCTGTCCTAGTTCCCTTCTGTATGCTACAGACAGCATATAGTAGCCACTTGAGAATTGTTAGGGAGGTGGGCCCTGAGAATGAAGCCAGTAAGTCTCAGCACACTTCGTTTGAGACCAGCCACCAGTATAAGCTCCCCCAGAGACTGTGTGTCCTATGAGCCTGGTGATTCAGGCATTCACAAATCCTGTCACAGTGTCCATGTATGACATTATAAGCCAGTATCCCAATTTCTTGCCTGAAACACCCTTTTCCTTTCTACCCATCAGATTCCACCCATCCAAT... | AACCAAATCCACCACCATCTGGTGCCAGCAGAACTGGCTGTCCTAGTTCCCTTCTGTATGCTACAGACAGCATATAGTAGCCACTTGAGAATTGTTAGGGAGGTGGGCCCTGAGAATGAAGCCAGTAAGTCTCAGCACACTTCGTTTGAGACCAGCCACCAGTATAAGCTCCCCCAGAGACTGTGTGTCCTATGAGCCTGGTGATTCAGGCATTCACAAATCCTGTCACAGTGTCCATGTATGACATTATAAGCCAGTATCCCAATTTCTTGCCTGAAACACCCTTTTCCTTTCTACCCATCAGATTCCACCCATCCAAT... | benign | 2,535 |
Evaluate the clinical significance of the mutation at chromosome 1, position 11130640 in gene MTOR (mechanistic target of rapamycin kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TGAAACAACTAGTTATTCTTCTAGGCAAAGATCAATTCTTTTAACTTGTTTCGGTTGATGCTCTGAAATGGTTCATTCCCTTCCCTTTAGTTTCTAAAAGAAAATAAAGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGAC... | TGAAACAACTAGTTATTCTTCTAGGCAAAGATCAATTCTTTTAACTTGTTTCGGTTGATGCTCTGAAATGGTTCATTCCCTTCCCTTTAGTTTCTAAAAGAAAATAAAGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGAC... | benign | 2,602 |
Evaluate the clinical significance of the mutation at chromosome 1, position 11130694 in gene MTOR (mechanistic target of rapamycin kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTGATGCTCTGAAATGGTTCATTCCCTTCCCTTTAGTTTCTAAAAGAAAATAAAGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATG... | TTGATGCTCTGAAATGGTTCATTCCCTTCCCTTTAGTTTCTAAAAGAAAATAAAGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATG... | benign | 2,608 |
Variant chromosome 1, position 11145054, gene MTOR: benign or pathogenic? Disease(s)? | benign | CAAGAGCCAAATTTCCACTATAAATGTAATGCTTTACTTTCAGGCCTTGGACCACATTTTTCCATCCCATGAAGTGTGACAACAATGATTTCGAAAGTTAAAATAACAGAAAAAAGTACACTGAGTGATTGTTTTTTGTGACTTCTCACCAATAGTTAGGTTCTCCCAGATGCTGAAATAATTTGGCCTCCTGTAAGCCAAAAAGCATCTTGCTGCCTCAAGATAGGAAAGTCACGAAGGCTTAAGGTGGTGGCAGTGTCCTGGACCCAGTAAAGTCAGACAGGCATCTCTCTTCCCAGGACTCATTCCATGCCTCCCCT... | CAAGAGCCAAATTTCCACTATAAATGTAATGCTTTACTTTCAGGCCTTGGACCACATTTTTCCATCCCATGAAGTGTGACAACAATGATTTCGAAAGTTAAAATAACAGAAAAAAGTACACTGAGTGATTGTTTTTTGTGACTTCTCACCAATAGTTAGGTTCTCCCAGATGCTGAAATAATTTGGCCTCCTGTAAGCCAAAAAGCATCTTGCTGCCTCAAGATAGGAAAGTCACGAAGGCTTAAGGTGGTGGCAGTGTCCTGGACCCAGTAAAGTCAGACAGGCATCTCTCTTCCCAGGACTCATTCCATGCCTCCCCT... | benign | 2,650 |
Variant in gene MTOR (mechanistic target of rapamycin kinase), located at chromosome 1 position 11248104: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CCAAACTGCAAGCTTTAAACAAATAGTACTTATGCAATGAAGCAAATACTTATACGGTGTGCCCAGGCTGAATGTCACTGGCATATTTTAGCATATTTAATAAAACAACCTTGACTAACCTTAAAAAAGAGAGCAACAACAATAACAAACACCCACATCAAAAGAAGAAATCTAGGGCCCTCTGAGCCTTTGTATCCTGCTGCTAGGCAGCCTTCTGAACTTACAAGGGTAACTTACAAGGGTAATGTGCCAGACTTTGATCAAATTTGGCCTAGTTATTAGTTCCTTTTGAACCACAGACTTTCAATCCAAGATCATTT... | CCAAACTGCAAGCTTTAAACAAATAGTACTTATGCAATGAAGCAAATACTTATACGGTGTGCCCAGGCTGAATGTCACTGGCATATTTTAGCATATTTAATAAAACAACCTTGACTAACCTTAAAAAAGAGAGCAACAACAATAACAAACACCCACATCAAAAGAAGAAATCTAGGGCCCTCTGAGCCTTTGTATCCTGCTGCTAGGCAGCCTTCTGAACTTACAAGGGTAACTTACAAGGGTAATGTGCCAGACTTTGATCAAATTTGGCCTAGTTATTAGTTCCTTTTGAACCACAGACTTTCAATCCAAGATCATTT... | benign | 2,762 |
For chromosome 1, position 11790882, gene MTHFR (methylenetetrahydrofolate reductase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive'] | GCTTTCCCTGCTTGCCAGCCCCGGGGCCCCTTCGTTTTCAGGGGAGGGGGTCAGTTCCATTACAGAACACACAGGCTGGATGCTGGAGCCCTTGCTTTGATTTGTGGCCCCAGCTCAGGCCAGGCCCACCCGGTCCATCAGTTTGCGAAGAAGGTGTGGCATGAGGCATGGCTGCCACTCACACTAGCCCATGGAGGGCCTGGGTCCTGAGCGCCCCCTCCCTCATTTGCTCTGCTCTGAGTACAGCTTCCCAGCTCACCATCAGATCTATTCTGAGCTTGTGCATTTGGCCTAGGCAAGACTGGCTGGCTGCTTGGGGC... | GCTTTCCCTGCTTGCCAGCCCCGGGGCCCCTTCGTTTTCAGGGGAGGGGGTCAGTTCCATTACAGAACACACAGGCTGGATGCTGGAGCCCTTGCTTTGATTTGTGGCCCCAGCTCAGGCCAGGCCCACCCGGTCCATCAGTTTGCGAAGAAGGTGTGGCATGAGGCATGGCTGCCACTCACACTAGCCCATGGAGGGCCTGGGTCCTGAGCGCCCCCTCCCTCATTTGCTCTGCTCTGAGTACAGCTTCCCAGCTCACCATCAGATCTATTCTGAGCTTGTGCATTTGGCCTAGGCAAGACTGGCTGGCTGCTTGGGGC... | pathogenic | 2,820 |
Chromosome 1, position 11792367, gene MTHFR (methylenetetrahydrofolate reductase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive', 'Schizophrenia', 'Thrombophilia_due_to_thrombin_defect'] | TGGGAGTCCCAGGCTGGCTCTGGAGGCTGCCTTGGTTCGAGGGCTTAGTTGGCAACAACCACTCTCCTCGCCTTCTCAGGAGGTGCCACCCACTGTGGTCCTCTGCAGGACGCAAGTGCTCCCCACCAAAAGAGCACAGACTCCTGGCTAGAGCAGAGAGTACTAGGTTCCCATGTGGGGCCGACTCAGGTCCAGGAAGAGCCTGGAAGCCTCACTCCAGTCTAGCTGCCATTGTCAGGTGGGGGAGTGGAGGCCGGGGTGGGAGAGACACGAAGGAGAGTGGAGTTCCCAAGAGAAGCAGCACTGTGGAGGAGGAAGGC... | TGGGAGTCCCAGGCTGGCTCTGGAGGCTGCCTTGGTTCGAGGGCTTAGTTGGCAACAACCACTCTCCTCGCCTTCTCAGGAGGTGCCACCCACTGTGGTCCTCTGCAGGACGCAAGTGCTCCCCACCAAAAGAGCACAGACTCCTGGCTAGAGCAGAGAGTACTAGGTTCCCATGTGGGGCCGACTCAGGTCCAGGAAGAGCCTGGAAGCCTCACTCCAGTCTAGCTGCCATTGTCAGGTGGGGGAGTGGAGGCCGGGGTGGGAGAGACACGAAGGAGAGTGGAGTTCCCAAGAGAAGCAGCACTGTGGAGGAGGAAGGC... | pathogenic | 2,839 |
For chromosome 1, position 11793948, gene MTHFR (methylenetetrahydrofolate reductase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive'] | CCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGC... | CCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGC... | pathogenic | 2,846 |
Determine whether the variant at chromosome 1, position 11794462, in gene MTHFR (methylenetetrahydrofolate reductase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive', 'Schizophrenia', 'Thrombophilia_due_to_thrombin_defect'] | GCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCC... | GCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCC... | pathogenic | 2,863 |
Clinically, how would you classify the variant at chromosome 1, position 11794539, gene MTHFR (methylenetetrahydrofolate reductase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive'] | GGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCC... | GGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCC... | pathogenic | 2,864 |
Evaluate if the mutation on chromosome 1 at position 11795261 in MTHFR (methylenetetrahydrofolate reductase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive'] | ATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGC... | ATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGC... | pathogenic | 2,887 |
Clinically, how would you classify the variant at chromosome 1, position 11801362, gene MTHFR (methylenetetrahydrofolate reductase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive'] | TGGCCAATGGTGATTCTCTTTCCTGGGAATTTGGAACGGAGGCCTGTCCATTAGCCTGGGGAACTGGCTGGAACTGACACTCTGCACACTCAGGAGCAGGCCAGGTGTGTGGAAAAGCATGGGTATCAGGTCTCCCAGATGAAGCACAGATGTGCAGTGGGAAGCGGAGATGGGGGACCCTGTGGCCCCAGAGGGAATGAGGGAGGGCCTTGCTTTTTGACCTCTTCCAGTGCCTTGTGAGGTCTGAGGCCATCTCCTGATCTTGGGTTCCCTGCCCTCTGGAATCCTGTTAGTAAATATCCCTCTTTTGTGGGGTGTTG... | TGGCCAATGGTGATTCTCTTTCCTGGGAATTTGGAACGGAGGCCTGTCCATTAGCCTGGGGAACTGGCTGGAACTGACACTCTGCACACTCAGGAGCAGGCCAGGTGTGTGGAAAAGCATGGGTATCAGGTCTCCCAGATGAAGCACAGATGTGCAGTGGGAAGCGGAGATGGGGGACCCTGTGGCCCCAGAGGGAATGAGGGAGGGCCTTGCTTTTTGACCTCTTCCAGTGCCTTGTGAGGTCTGAGGCCATCTCCTGATCTTGGGTTCCCTGCCCTCTGGAATCCTGTTAGTAAATATCCCTCTTTTGTGGGGTGTTG... | pathogenic | 2,916 |
Is the chromosome 1, position 11950377 variant in PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1'] | AGGCTAGTTTAGAGGACAGGGCCTCGGGATCAGCATTTCCACAAGTACCACCCCGTAATTTGGGGATGGGCACGGTCTAGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTT... | AGGCTAGTTTAGAGGACAGGGCCTCGGGATCAGCATTTCCACAAGTACCACCCCGTAATTTGGGGATGGGCACGGTCTAGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTT... | pathogenic | 3,006 |
Assess the variant on chromosome 1, position 11950455, impacting PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1'] | AGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGT... | AGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGT... | pathogenic | 3,010 |
A genetic variant on chromosome 1, position 11950455, affects the gene PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | AGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGT... | AGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGT... | pathogenic | 3,011 |
Variant in PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1), chromosome 1, position 11952620—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | GCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCT... | GCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCT... | pathogenic | 3,017 |
The genetic variant at chromosome 1, position 11956963, affecting gene PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1'] | GGGTGGATCCTCAGAGGGGTGATAGGAAGAATTCCAGGCAGGGCCCGAGCCCAGGGAGGAGAAATGGGCTGCTTCTTTCTGGCCATTGTGCTGAGAGGTCACTGGCCTCATCCCCAGGTCCCCAGGGGCCACTTGGATATCCTGGCGCAGAGCCATGTCTCTCTTGGGGGCGGGGGACAAGTGAGCATTCAGCCTGGGAGGAGTTGGGGGATGCGCACAGCAGGTGCTGGACCCCCTGCCCTGCATACCAGGTCCTTACAGGTGGGCCCTCTTTCCCCACTTTCCCGGCCCTCCCACCTTCCAGGTGAAGGAGTCCTGGG... | GGGTGGATCCTCAGAGGGGTGATAGGAAGAATTCCAGGCAGGGCCCGAGCCCAGGGAGGAGAAATGGGCTGCTTCTTTCTGGCCATTGTGCTGAGAGGTCACTGGCCTCATCCCCAGGTCCCCAGGGGCCACTTGGATATCCTGGCGCAGAGCCATGTCTCTCTTGGGGGCGGGGGACAAGTGAGCATTCAGCCTGGGAGGAGTTGGGGGATGCGCACAGCAGGTGCTGGACCCCCTGCCCTGCATACCAGGTCCTTACAGGTGGGCCCTCTTTCCCCACTTTCCCGGCCCTCCCACCTTCCAGGTGAAGGAGTCCTGGG... | pathogenic | 3,033 |
Evaluate this variant at chromosome 1, position 11964227, gene PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1'] | CTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGTGATGACCTTCACATAATTTTTACATCTTCTTTTGATTTTTGTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTGCAATATTGGCTCACTGCAAGCTCTGCCTCCCACGTTCACGCCATTCTCCTGTCTTAGCCTCCCGAGTAGCTGTGACTACAGGTGCCCACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG... | CTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGTGATGACCTTCACATAATTTTTACATCTTCTTTTGATTTTTGTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTGCAATATTGGCTCACTGCAAGCTCTGCCTCCCACGTTCACGCCATTCTCCTGTCTTAGCCTCCCGAGTAGCTGTGACTACAGGTGCCCACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG... | pathogenic | 3,082 |
Variant in gene PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1), located at chromosome 1 position 11970708: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1'] | CCTGCCACCATGCCCGACTAATTTTTGTATATTTAGTAGAGATGGGTTTCACCATTTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCGCACCGGGCACCCCACCTCTCATTTTCTACGTCCTTTTTTTTTTTTTTTTTGGTGAAGTGGAGCCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCAGTGGTGCAGTGGTGCGATCTCGGCTCACTGAAACCTCTGCCTCCTGAGTTCAAGTGATTCTCTTGCCTCAGCTT... | CCTGCCACCATGCCCGACTAATTTTTGTATATTTAGTAGAGATGGGTTTCACCATTTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCGCACCGGGCACCCCACCTCTCATTTTCTACGTCCTTTTTTTTTTTTTTTTTGGTGAAGTGGAGCCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCAGTGGTGCAGTGGTGCGATCTCGGCTCACTGAAACCTCTGCCTCCTGAGTTCAAGTGATTCTCTTGCCTCAGCTT... | pathogenic | 3,135 |
Evaluate if the mutation on chromosome 1 at position 11972853 in PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TACTACACCAGGGTGGGCAAGCCTGGGGCATAGCCAGGATGCGGGGACAGTTGGGTGGGGTGTCAGTGGAGTGGCTGGGACTGGTGGGGGTAGGGTGGGAGGTGGAGAAACTGGGAGGGGCCGAGGTGGAGTGAGGGTGTGGGGAGCGTGGGAGGGGCAAGGGTGGGGCATGAGGTAGAGGGACTGAGGGGTGGGGATGGGGTTGGGAAGAGCAGGGGTGGGGTGGGAAGTGGTAGAGAAGCTGGGAGGGGTGGAGAGGAGTAGGGAGCCTGGGAGGGGCAGGGGTGAGTGGGAGTGGAAAGCCTAGAGGGGCGGGGGGG... | TACTACACCAGGGTGGGCAAGCCTGGGGCATAGCCAGGATGCGGGGACAGTTGGGTGGGGTGTCAGTGGAGTGGCTGGGACTGGTGGGGGTAGGGTGGGAGGTGGAGAAACTGGGAGGGGCCGAGGTGGAGTGAGGGTGTGGGGAGCGTGGGAGGGGCAAGGGTGGGGCATGAGGTAGAGGGACTGAGGGGTGGGGATGGGGTTGGGAAGAGCAGGGGTGGGGTGGGAAGTGGTAGAGAAGCTGGGAGGGGTGGAGAGGAGTAGGGAGCCTGGGAGGGGCAGGGGTGAGTGGGAGTGGAAAGCCTAGAGGGGCGGGGGGG... | benign | 3,146 |
Is the genetic mutation found on chromosome 1 at position 11996247, within the gene MFN2 (mitofusin 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_2'] | TATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGA... | TATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGA... | pathogenic | 3,210 |
Considering the genetic mutation at chromosome 1, position 11998841, impacting MFN2 (mitofusin 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Inborn_genetic_diseases'] | TTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCA... | TTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCA... | pathogenic | 3,234 |
Mutation at chromosome 1, position 12004934, within MFN2 (mitofusin 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTA... | GAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTA... | benign | 3,288 |
Does the chromosome 1 mutation at position 12373755 within gene VPS13D (vacuolar protein sorting 13 homolog D) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['VPS13D-related_disorder'] | AAAGTACCCAGTATTTTTTGTGGCTGAATACTATGCTGTATACTACATTTTTGTTTATCCAGTTATTTGTTGATGGACATTTGGTTGTTTCTGCGTTTTGGCTATTGTAAACAGTGTTGCTATGAACATGCCTGTACATATATTTGTTTGAGTACTTGTTTTCAATTCTTTTGCTTTATACAGAAGAGTGGAGTTGCTGGGTTCTATTATAATTCTAAGTTTAACTTTTTGAGGAACCGCCATACTGTTTTCCACAGTGGCTAAACGATTGTACATTCCTACCAACAGTGTAGAGAGGTTCCAATTTCTCCACATCCTCA... | AAAGTACCCAGTATTTTTTGTGGCTGAATACTATGCTGTATACTACATTTTTGTTTATCCAGTTATTTGTTGATGGACATTTGGTTGTTTCTGCGTTTTGGCTATTGTAAACAGTGTTGCTATGAACATGCCTGTACATATATTTGTTTGAGTACTTGTTTTCAATTCTTTTGCTTTATACAGAAGAGTGGAGTTGCTGGGTTCTATTATAATTCTAAGTTTAACTTTTTGAGGAACCGCCATACTGTTTTCCACAGTGGCTAAACGATTGTACATTCCTACCAACAGTGTAGAGAGGTTCCAATTTCTCCACATCCTCA... | pathogenic | 3,433 |
The genetic variant at chromosome 1, position 15445687, affecting gene CTRC (chymotrypsin C): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_pancreatitis', 'Pancreatitis,_chronic,_susceptibility_to', 'likely other unspecified diseases'] | TGCCTTCACATTTTCATGTCTTTGTAAACTTTGTAACAATAACAGCTAATATTTACTAAGCACATACCATGTGACAGACACTCTAGCAAGGGTCTCTGAGAGATGTGGTAAAGTTTAGACGAATTAGAATTTGTCAAGTGCTCAGAACAGCACTTGGCACATAGTAAGTGTCACATAAATAAACTAAAATAAACCATTAGGGGTAGGGGATGACATCTGTGGTATACCGTATGCCCAAATAGGTCCCAGCTGAATTAAAAGTTAAATGCAAATCATGAAACTATGGGAGACTTAGAAAATGCAGATCACTATTTAGAAAA... | TGCCTTCACATTTTCATGTCTTTGTAAACTTTGTAACAATAACAGCTAATATTTACTAAGCACATACCATGTGACAGACACTCTAGCAAGGGTCTCTGAGAGATGTGGTAAAGTTTAGACGAATTAGAATTTGTCAAGTGCTCAGAACAGCACTTGGCACATAGTAAGTGTCACATAAATAAACTAAAATAAACCATTAGGGGTAGGGGATGACATCTGTGGTATACCGTATGCCCAAATAGGTCCCAGCTGAATTAAAAGTTAAATGCAAATCATGAAACTATGGGAGACTTAGAAAATGCAGATCACTATTTAGAAAA... | pathogenic | 3,519 |
Clinically, how would you classify the variant at chromosome 1, position 15716229, gene PLEKHM2 (pleckstrin homology and RUN domain containing M2): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CCACCCGCCTTGGCTTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCCTGTTTTGGTTTTTTAATTAGAACATTGCACTAGATCTCTAAGGATGCTTCCAGCTGTAACATCTGTCTATAGGCTCTCTGATCTCAGATTTACTCAGATTTTGAAATTAAAAAAAAAAAAAAAAAAAAAGCTCTACCCCAGTGTGGTCGTACTTAATACTGAAGTGTGCAGTAATGTTTCCAGCTGTTGCTGAGAGGGATTATGCAGTTTTTGCAGGCTTATTCCTCTTTCTTTCAGCTCTAGAAATCTTTCCTTCTGGT... | CCACCCGCCTTGGCTTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCCTGTTTTGGTTTTTTAATTAGAACATTGCACTAGATCTCTAAGGATGCTTCCAGCTGTAACATCTGTCTATAGGCTCTCTGATCTCAGATTTACTCAGATTTTGAAATTAAAAAAAAAAAAAAAAAAAAAGCTCTACCCCAGTGTGGTCGTACTTAATACTGAAGTGTGCAGTAATGTTTCCAGCTGTTGCTGAGAGGGATTATGCAGTTTTTGCAGGCTTATTCCTCTTTCTTTCAGCTCTAGAAATCTTTCCTTCTGGT... | benign | 3,541 |
For chromosome 1, position 15928646, gene SPEN (spen family transcriptional repressor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Neurodevelopmental_abnormality', 'Radio-Tartaglia_syndrome'] | GTTGAGTGCTATGAGCCAAGTGCTGTTGTAAGAGCTAGAGAAATTTTGGCCAAGAAGACAAAGCCTGTGCCTTTATGGGGCTTAAGTTCTAGTGTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCGCCCAAGCTGGAGTGCAGCGGCACAATCTTGACTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTTCCTCAGCCTCCCGAGTACCTGGGACTACAGGCGCCTGCCACCATGCCCGCCTAATTTTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATC... | GTTGAGTGCTATGAGCCAAGTGCTGTTGTAAGAGCTAGAGAAATTTTGGCCAAGAAGACAAAGCCTGTGCCTTTATGGGGCTTAAGTTCTAGTGTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCGCCCAAGCTGGAGTGCAGCGGCACAATCTTGACTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTTCCTCAGCCTCCCGAGTACCTGGGACTACAGGCGCCTGCCACCATGCCCGCCTAATTTTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATC... | pathogenic | 3,595 |
Variant in gene SPEN (spen family transcriptional repressor), located at chromosome 1 position 15932326: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Encephalopathy', 'Radio-Tartaglia_syndrome'] | GGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAAT... | GGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAAT... | pathogenic | 3,605 |
Determine whether the variant at chromosome 1, position 15932458, in gene SPEN (spen family transcriptional repressor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Radio-Tartaglia_syndrome'] | CCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAA... | CCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAA... | pathogenic | 3,606 |
Mutation found at chromosome 1 position 15932878, gene SPEN (spen family transcriptional repressor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases'] | TTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCG... | TTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCG... | pathogenic | 3,607 |
Is the chromosome 1, position 15933213 variant in SPEN (spen family transcriptional repressor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Radio-Tartaglia_syndrome'] | TCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAAC... | TCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAAC... | pathogenic | 3,609 |
Regarding the variant found on chromosome 1 at position 16044506 in gene CLCNKB (chloride voltage-gated channel Kb): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B'] | GATGAAGGTGGGCTCGGGTTCATGCAGAGCGGCAACCCCCATCCCACCTCCCACAACACACACCTTCAATTTTGATTTGACTTGCCTGGCATCTAGGGGCAAAGGGTGGCCCAGGGTCCCAGATTTTAACAATCATCCAAGGGCCATCATGTTATTCAGAGAGTGGCTTTGTCTGGGTAGGACTGGAGGCAATTGCCCCCAACATCTTGCCCCAAAGTGGCATCAGACACAACTCTTCTGTTCTGTGCCCAAACCATTGCCCTGGTTCAGCCTCAGGAGCTGGAGGAGCTTTGGGCAGGGGAAGAGCTGCACAGTGTGGG... | GATGAAGGTGGGCTCGGGTTCATGCAGAGCGGCAACCCCCATCCCACCTCCCACAACACACACCTTCAATTTTGATTTGACTTGCCTGGCATCTAGGGGCAAAGGGTGGCCCAGGGTCCCAGATTTTAACAATCATCCAAGGGCCATCATGTTATTCAGAGAGTGGCTTTGTCTGGGTAGGACTGGAGGCAATTGCCCCCAACATCTTGCCCCAAAGTGGCATCAGACACAACTCTTCTGTTCTGTGCCCAAACCATTGCCCTGGTTCAGCCTCAGGAGCTGGAGGAGCTTTGGGCAGGGGAAGAGCTGCACAGTGTGGG... | pathogenic | 3,705 |
Mutation found at chromosome 1 position 16044527, gene CLCNKB (chloride voltage-gated channel Kb): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B'] | ATGCAGAGCGGCAACCCCCATCCCACCTCCCACAACACACACCTTCAATTTTGATTTGACTTGCCTGGCATCTAGGGGCAAAGGGTGGCCCAGGGTCCCAGATTTTAACAATCATCCAAGGGCCATCATGTTATTCAGAGAGTGGCTTTGTCTGGGTAGGACTGGAGGCAATTGCCCCCAACATCTTGCCCCAAAGTGGCATCAGACACAACTCTTCTGTTCTGTGCCCAAACCATTGCCCTGGTTCAGCCTCAGGAGCTGGAGGAGCTTTGGGCAGGGGAAGAGCTGCACAGTGTGGGGCTGGGTTCAGCCTCTGCTGT... | ATGCAGAGCGGCAACCCCCATCCCACCTCCCACAACACACACCTTCAATTTTGATTTGACTTGCCTGGCATCTAGGGGCAAAGGGTGGCCCAGGGTCCCAGATTTTAACAATCATCCAAGGGCCATCATGTTATTCAGAGAGTGGCTTTGTCTGGGTAGGACTGGAGGCAATTGCCCCCAACATCTTGCCCCAAAGTGGCATCAGACACAACTCTTCTGTTCTGTGCCCAAACCATTGCCCTGGTTCAGCCTCAGGAGCTGGAGGAGCTTTGGGCAGGGGAAGAGCTGCACAGTGTGGGGCTGGGTTCAGCCTCTGCTGT... | pathogenic | 3,706 |
The mutation impacting CLCNKB on chromosome 1 at position 16047920: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | GTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCAC... | GTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCAC... | pathogenic | 3,726 |
Considering the variant on chromosome 1, location 16048568, involving gene CLCNKB, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCT... | CCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCT... | benign | 3,738 |
The mutation in gene CLCNKB at chromosome 1, position 16049743—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCC... | GGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCC... | benign | 3,759 |
Gene CLCNKB variant at chromosome position 16049884 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bartter_disease_type_3', 'Hematuria', 'Proteinuria'] | CACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGC... | CACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGC... | pathogenic | 3,763 |
Is the variant located on chromosome 1 at position 16051800, gene CLCNKB, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B'] | GGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCC... | GGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCC... | pathogenic | 3,795 |
Gene CLCNKB variant at chromosome position 16052263 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B'] | TGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCT... | TGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCT... | pathogenic | 3,802 |
Evaluate the clinical significance of the mutation at chromosome 1, position 16053707 in gene CLCNKB: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B'] | CTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTC... | CTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTC... | pathogenic | 3,824 |
Does the variant on chromosome 1 at location 16055723 affecting gene CLCNKB have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B'] | CAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGG... | CAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGG... | pathogenic | 3,839 |
Variant on chromosome 1, at position 16986749, affecting ATP13A2 (ATPase cation transporting 13A2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCTGGCTGGCAACACAGTGCCAGGAGCAGAGGTCCACTGTGATGTGCCTCCTGGCAGGACTTTCATCTTCACACCCACATCCCTTCTCCCCAGCATGATTCAACGTTTTCTCAGCCCCTACTCTGGCAGGCCTGGGGATAGCACCAGGGGTTCCAGGAATGAGGTTGGCCAGGGCTTTTGGAAGGCAGGAAACAGCCGGTCTTTCCTGTTCTCCCCTGCCCAGATGAGCCAGACGGCCAAGCTGCCTCTCTAGAGCAGAGGGGCTTGGCCAGGGGCCCGCTGGTGAGATGAGCTCAGAGGCACCCACCCTTCCCTGAGGG... | GCTGGCTGGCAACACAGTGCCAGGAGCAGAGGTCCACTGTGATGTGCCTCCTGGCAGGACTTTCATCTTCACACCCACATCCCTTCTCCCCAGCATGATTCAACGTTTTCTCAGCCCCTACTCTGGCAGGCCTGGGGATAGCACCAGGGGTTCCAGGAATGAGGTTGGCCAGGGCTTTTGGAAGGCAGGAAACAGCCGGTCTTTCCTGTTCTCCCCTGCCCAGATGAGCCAGACGGCCAAGCTGCCTCTCTAGAGCAGAGGGGCTTGGCCAGGGGCCCGCTGGTGAGATGAGCTCAGAGGCACCCACCCTTCCCTGAGGG... | benign | 3,957 |
Assess the variant on chromosome 1, position 16987071, impacting ATP13A2 (ATPase cation transporting 13A2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_spastic_paraplegia_type_78', 'Inborn_genetic_diseases', 'Kufor-Rakeb_syndrome', 'Neurodegeneration_with_brain_iron_accumulation'] | GATGCGCGTGGTTCTGGCTGGGAGATGTGGGCTCCGAGCCTGGATTTCATCTGAGGAAGGAACTGCCCACAAACATGTCCCAGGATGCTGGGGTGGGACGGGGAGGGGGTAAGGTGGGAGAGAGGGAGCTGCCCCCTAGCAAATGCCTCCCAGGCAAGCCTACATCTCCTTGTCCTCCAAAGGAGGGTAGGAGGGTTAGGAACATCGAAGCTGGAGTCAAAGCTATCCGGCCCCACTCTGACTACTTGTGTAACCTCTAAGCCTTGGTTTCTTCATCTGTAAAATGGGAATAGTACCACAGTTGTTGGAAGGATGACATG... | GATGCGCGTGGTTCTGGCTGGGAGATGTGGGCTCCGAGCCTGGATTTCATCTGAGGAAGGAACTGCCCACAAACATGTCCCAGGATGCTGGGGTGGGACGGGGAGGGGGTAAGGTGGGAGAGAGGGAGCTGCCCCCTAGCAAATGCCTCCCAGGCAAGCCTACATCTCCTTGTCCTCCAAAGGAGGGTAGGAGGGTTAGGAACATCGAAGCTGGAGTCAAAGCTATCCGGCCCCACTCTGACTACTTGTGTAACCTCTAAGCCTTGGTTTCTTCATCTGTAAAATGGGAATAGTACCACAGTTGTTGGAAGGATGACATG... | pathogenic | 3,967 |
A genetic alteration at chromosome 1, position 16992037, in gene ATP13A2 (ATPase cation transporting 13A2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_spastic_paraplegia_type_78', 'Neurodegeneration_with_brain_iron_accumulation'] | AGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGT... | AGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGT... | pathogenic | 3,996 |
Gene ATP13A2 (ATPase cation transporting 13A2) variant at chromosome position 17000015 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['ATP13A2-related_disorder', 'Autosomal_recessive_spastic_paraplegia_type_78', 'Kufor-Rakeb_syndrome'] | TGCTCGCCATGGCCCTGTGAAGTCCTGGGCAGGCTGCCTAGCAAACAGTGGCACTCCCTTACTGAATGCCTGCAGGCTGGGACTATTGAGCACCTACTGTGTGCACATTCCTGCAAGGGAGTCAGACAATCCTGCCATGTCTGCCTCACAAGAGATGAGCAGATGAAGTATGTGTGGACAGTTTGTGGAGGGCAGGGCTCAGGGCGTGTGCCCACAAATCATACTGATCACAATTACTACTTTTTTTTTGTTTTCTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAC... | TGCTCGCCATGGCCCTGTGAAGTCCTGGGCAGGCTGCCTAGCAAACAGTGGCACTCCCTTACTGAATGCCTGCAGGCTGGGACTATTGAGCACCTACTGTGTGCACATTCCTGCAAGGGAGTCAGACAATCCTGCCATGTCTGCCTCACAAGAGATGAGCAGATGAAGTATGTGTGGACAGTTTGTGGAGGGCAGGGCTCAGGGCGTGTGCCCACAAATCATACTGATCACAATTACTACTTTTTTTTTGTTTTCTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAC... | pathogenic | 4,027 |
Evaluate this variant at chromosome 1, position 17002326, gene ATP13A2 (ATPase cation transporting 13A2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_spastic_paraplegia_type_78', 'Inborn_genetic_diseases', 'Kufor-Rakeb_syndrome'] | GACAACTTGACCATGTCCCTTAGAGTCTGGCTTTGCTGTGGGCAGGGGACAAGAGGGCCGTGAGTGGGTGGGGGCCCCTGGGGACCCACCTGTCCCGTCCCCACCCACCTTATGGCACTCACCTTTCTGGTCTTGTACAGCGACAGGCAGATGGAGATGGAGGAAATGAGGAAGATGCACAGGGCGTACCAGTAGTAGTGGTCAGCCAGCCACAGCGCGATGCTGAAGGCCTGGAACCCATAGTAGGGGTTCAGTGCCTGGGGGAGGGGCGGGAGGCAGCGTCAGGGCCGCGTCCCCCAGGGCAGCCCAGCCACAGGCTG... | GACAACTTGACCATGTCCCTTAGAGTCTGGCTTTGCTGTGGGCAGGGGACAAGAGGGCCGTGAGTGGGTGGGGGCCCCTGGGGACCCACCTGTCCCGTCCCCACCCACCTTATGGCACTCACCTTTCTGGTCTTGTACAGCGACAGGCAGATGGAGATGGAGGAAATGAGGAAGATGCACAGGGCGTACCAGTAGTAGTGGTCAGCCAGCCACAGCGCGATGCTGAAGGCCTGGAACCCATAGTAGGGGTTCAGTGCCTGGGGGAGGGGCGGGAGGCAGCGTCAGGGCCGCGTCCCCCAGGGCAGCCCAGCCACAGGCTG... | pathogenic | 4,044 |
Evaluate this variant at chromosome 1, position 17018936, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | TCCCAGCTGCTCTGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACG... | TCCCAGCTGCTCTGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACG... | pathogenic | 4,074 |
Is chromosome 1, position 17018943, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | TGCTCTGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAAC... | TGCTCTGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAAC... | pathogenic | 4,076 |
Located at chromosome 1 position 17018976, the variant affecting gene SDHB—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCC... | ACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCC... | benign | 4,078 |
Does the variant impacting SDHB (succinate dehydrogenase complex iron sulfur subunit B) on chromosome 1, position 17022651, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | AGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATT... | AGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATT... | pathogenic | 4,093 |
Chromosome 1, position 17022653, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma'] | CCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTC... | CCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTC... | pathogenic | 4,095 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 17022655, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): what disease(s) if pathogenic? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | AGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCAT... | AGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCAT... | pathogenic | 4,096 |
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome position 17022659 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma'] | CCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTT... | CCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTT... | pathogenic | 4,098 |
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome position 17022685 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | CTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTT... | CTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTT... | pathogenic | 4,108 |
Is the genetic mutation found on chromosome 1 at position 17022685, within the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | CTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTT... | CTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTT... | pathogenic | 4,109 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 17022688, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). What disease(s) is it linked to if pathogenic? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma'] | AAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACG... | AAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACG... | pathogenic | 4,110 |
The mutation in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) at chromosome 1, position 17022691—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | CAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCT... | CAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCT... | pathogenic | 4,112 |
The genetic variant at chromosome 1, position 17023966, affecting gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | CCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTG... | CCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTG... | pathogenic | 4,129 |
The mutation impacting SDHB (succinate dehydrogenase complex iron sulfur subunit B) on chromosome 1 at position 17023977: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Carney-Stratakis_syndrome', 'Gastrointestinal_stromal_tumor', 'Mitochondrial_complex_2_deficiency,_nuclear_type_4', 'Paragangliomas_4', 'Pheochromocytoma'] | ACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGA... | ACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGA... | pathogenic | 4,135 |
A mutation at chromosome position 17023993 on chromosome 1 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Paragangliomas_4', 'Pheochromocytoma'] | GCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAAT... | GCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAAT... | pathogenic | 4,141 |
Considering the variant on chromosome 1, location 17023998, involving gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | AGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGT... | AGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGT... | pathogenic | 4,143 |
Does the variant on chromosome 1 at location 17024005 affecting gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | CCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACA... | CCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACA... | pathogenic | 4,144 |
Mutation at chromosome 1, position 17024009, within SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | TCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTG... | TCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTG... | pathogenic | 4,147 |
A genetic alteration at chromosome 1, position 17024016, in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Paragangliomas_4', 'Pheochromocytoma'] | CCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGT... | CCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGT... | pathogenic | 4,151 |
A mutation at chromosome position 17024023 on chromosome 1 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma', 'SDHB-related_disorder'] | TGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACG... | TGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACG... | pathogenic | 4,154 |
Mutation at chromosome 1, position 17024075, within SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGG... | CTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGG... | benign | 4,172 |
The chromosome 1, position 17024081 genetic variant in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTG... | AAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTG... | benign | 4,175 |
A genetic variant on chromosome 1, position 17027751, affects the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | TACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCC... | TACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCC... | pathogenic | 4,180 |
Is the genetic mutation found on chromosome 1 at position 17027797, within the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Gastrointestinal_stromal_tumor', 'Paragangliomas_4', 'Pheochromocytoma'] | GCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAA... | GCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAA... | pathogenic | 4,190 |
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome position 17027807 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | TTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGG... | TTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGG... | pathogenic | 4,191 |
Does the genetic variant at chromosome 1, position 17027818, impacting gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma'] | AAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCA... | AAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCA... | pathogenic | 4,194 |
Variant at chromosome position 17027843, chromosome 1, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma'] | AAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGA... | AAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGA... | pathogenic | 4,201 |
Clinical classification of chromosome 1, position 17027844, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4'] | AATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAG... | AATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAG... | pathogenic | 4,203 |
Is the genetic variant on chromosome 1, position 17027873, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCC... | GGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCC... | benign | 4,207 |
Considering the variant on chromosome 1, location 17027875, involving gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTA... | TTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTA... | benign | 4,208 |
For chromosome 1, position 17027877, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGG... | GGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGG... | benign | 4,209 |
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome 1, position 17027878—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGA... | GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGA... | benign | 4,210 |
The chromosome 1, position 17027878 genetic variant in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGA... | GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGA... | benign | 4,211 |
Does the chromosome 1 mutation at position 17027878 within gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGA... | GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGA... | benign | 4,212 |
Evaluate if the mutation on chromosome 1 at position 17027878 in SDHB (succinate dehydrogenase complex iron sulfur subunit B) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGA... | GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGA... | benign | 4,213 |
Clinical classification of chromosome 1, position 17028579, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? Disease(s) if pathogenic? | benign | ATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTC... | ATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTC... | benign | 4,215 |
Variant at chromosome position 17028610, chromosome 1, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | ATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCT... | ATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCT... | pathogenic | 4,222 |
Variant in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), located at chromosome 1 position 17028643: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGC... | CCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGC... | pathogenic | 4,226 |
Is the chromosome 1, position 17028689 variant in SDHB (succinate dehydrogenase complex iron sulfur subunit B) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGT... | AGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGT... | pathogenic | 4,235 |
Is the genetic change at chromosome 1, position 17028690, within gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma'] | GATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTA... | GATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTA... | pathogenic | 4,236 |
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome position 17028712 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma', 'SDHB-related_disorder'] | GACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGG... | GACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGG... | pathogenic | 4,239 |
Clinically, how would you classify the variant at chromosome 1, position 17033135, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | TCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATT... | TCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATT... | pathogenic | 4,272 |
Chromosome 1, position 17044790, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Carney-Stratakis_syndrome', 'Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_2_deficiency,_nuclear_type_4', 'Paragangliomas_4', 'Pheochromocytoma', 'SDHB-related_disorder', 'likely other unspecified diseases'] | CACTGTAACCTGGGTGACAGCGAGACCCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCA... | CACTGTAACCTGGGTGACAGCGAGACCCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCA... | pathogenic | 4,289 |
The mutation in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) at chromosome 1, position 17044816—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | CCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCA... | CCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCA... | pathogenic | 4,293 |
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