question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Does the variant impacting FH (fumarate hydratase) on chromosome 1, position 241508668, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_leiomyomatosis_and_renal_cell_cancer'] | CAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAA... | CAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAA... | pathogenic | 26,846 |
Regarding the variant at chromosome 1 and position 241508671, affecting gene FH (fumarate hydratase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Fumarase_deficiency', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | TTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAATCT... | TTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAATCT... | pathogenic | 26,847 |
Does the variant impacting FH (fumarate hydratase) on chromosome 1, position 241508757, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | AACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAATCTATCCTTTTTTCCTGCCTGAAAACACTAAAAAACCATAAGTGACAGGATGCCATACTGTTCTAAAGAAAACATTTCAAAAGATATAA... | AACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAATCTATCCTTTTTTCCTGCCTGAAAACACTAAAAAACCATAAGTGACAGGATGCCATACTGTTCTAAAGAAAACATTTCAAAAGATATAA... | pathogenic | 26,860 |
Variant on chromosome 1, at position 241508771, affecting FH (fumarate hydratase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAATCTATCCTTTTTTCCTGCCTGAAAACACTAAAAAACCATAAGTGACAGGATGCCATACTGTTCTAAAGAAAACATTTCAAAAGATATAACTCATTATAGGTAG... | AAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAATCTATCCTTTTTTCCTGCCTGAAAACACTAAAAAACCATAAGTGACAGGATGCCATACTGTTCTAAAGAAAACATTTCAAAAGATATAACTCATTATAGGTAG... | pathogenic | 26,865 |
Regarding the variant at chromosome 1 and position 241508777, affecting gene FH (fumarate hydratase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Fumarase_deficiency', 'Hereditary_cancer-predisposing_syndrome'] | CTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAATCTATCCTTTTTTCCTGCCTGAAAACACTAAAAAACCATAAGTGACAGGATGCCATACTGTTCTAAAGAAAACATTTCAAAAGATATAACTCATTATAGGTAGACCTGA... | CTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAATCTATCCTTTTTTCCTGCCTGAAAACACTAAAAAACCATAAGTGACAGGATGCCATACTGTTCTAAAGAAAACATTTCAAAAGATATAACTCATTATAGGTAGACCTGA... | pathogenic | 26,867 |
Mutation found at chromosome 1 position 241508783, gene FH (fumarate hydratase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAATCTATCCTTTTTTCCTGCCTGAAAACACTAAAAAACCATAAGTGACAGGATGCCATACTGTTCTAAAGAAAACATTTCAAAAGATATAACTCATTATAGGTAGACCTGATGCATC... | AAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAATCTATCCTTTTTTCCTGCCTGAAAACACTAAAAAACCATAAGTGACAGGATGCCATACTGTTCTAAAGAAAACATTTCAAAAGATATAACTCATTATAGGTAGACCTGATGCATC... | pathogenic | 26,872 |
A genetic variant on chromosome 1, position 241511939, affects the gene FH (fumarate hydratase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TTGACGTTTACTATGCAAAATATAAAGTACTTACGAAAGAAGTAGGATGAATGGTATAATAAACACTTATGTACCTGTCACCTGAATTCAAATAGTTTACATAATTATCAACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATT... | TTGACGTTTACTATGCAAAATATAAAGTACTTACGAAAGAAGTAGGATGAATGGTATAATAAACACTTATGTACCTGTCACCTGAATTCAAATAGTTTACATAATTATCAACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATT... | benign | 26,880 |
A mutation at chromosome position 241511957 on chromosome 1 in gene FH (fumarate hydratase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AATATAAAGTACTTACGAAAGAAGTAGGATGAATGGTATAATAAACACTTATGTACCTGTCACCTGAATTCAAATAGTTTACATAATTATCAACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCC... | AATATAAAGTACTTACGAAAGAAGTAGGATGAATGGTATAATAAACACTTATGTACCTGTCACCTGAATTCAAATAGTTTACATAATTATCAACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCC... | benign | 26,882 |
Gene FH (fumarate hydratase) variant at chromosome position 241511968 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fumarase_deficiency', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | CTTACGAAAGAAGTAGGATGAATGGTATAATAAACACTTATGTACCTGTCACCTGAATTCAAATAGTTTACATAATTATCAACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTT... | CTTACGAAAGAAGTAGGATGAATGGTATAATAAACACTTATGTACCTGTCACCTGAATTCAAATAGTTTACATAATTATCAACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTT... | pathogenic | 26,886 |
Determine if the mutation at chromosome 1, position 241511970 in gene FH (fumarate hydratase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TACGAAAGAAGTAGGATGAATGGTATAATAAACACTTATGTACCTGTCACCTGAATTCAAATAGTTTACATAATTATCAACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGA... | TACGAAAGAAGTAGGATGAATGGTATAATAAACACTTATGTACCTGTCACCTGAATTCAAATAGTTTACATAATTATCAACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGA... | pathogenic | 26,888 |
The genetic variant at chromosome 1, position 241512017, affecting gene FH (fumarate hydratase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Fumarase_deficiency', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | CACCTGAATTCAAATAGTTTACATAATTATCAACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGA... | CACCTGAATTCAAATAGTTTACATAATTATCAACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGA... | pathogenic | 26,899 |
Assess the variant on chromosome 1, position 241512031, impacting FH (fumarate hydratase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Fumarase_deficiency', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | TAGTTTACATAATTATCAACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTT... | TAGTTTACATAATTATCAACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTT... | pathogenic | 26,902 |
Variant at chromosome 1, position 241512082, gene FH (fumarate hydratase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_leiomyomatosis_and_renal_cell_cancer'] | ACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGGAACACACTTCAGAAAAGTAAAAGGATGGTGGCA... | ACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGGAACACACTTCAGAAAAGTAAAAGGATGGTGGCA... | pathogenic | 26,913 |
Gene mutation in FH (fumarate hydratase) at chromosome 1, position 241512122—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | CATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGGAACACACTTCAGAAAAGTAAAAGGATGGTGGCATGCCTAAAAGGACACAAGAGCCAAATGAATTGGGTTCCCA... | CATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGGAACACACTTCAGAAAAGTAAAAGGATGGTGGCATGCCTAAAAGGACACAAGAGCCAAATGAATTGGGTTCCCA... | pathogenic | 26,921 |
Chromosome 1, position 241512149, gene FH (fumarate hydratase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGGAACACACTTCAGAAAAGTAAAAGGATGGTGGCATGCCTAAAAGGACACAAGAGCCAAATGAATTGGGTTCCCAGAGCTGAAAGAATTTAAGCAACAATAT... | TTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGGAACACACTTCAGAAAAGTAAAAGGATGGTGGCATGCCTAAAAGGACACAAGAGCCAAATGAATTGGGTTCCCAGAGCTGAAAGAATTTAAGCAACAATAT... | benign | 26,930 |
Chromosome 1, position 241512159, gene FH (fumarate hydratase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGGAACACACTTCAGAAAAGTAAAAGGATGGTGGCATGCCTAAAAGGACACAAGAGCCAAATGAATTGGGTTCCCAGAGCTGAAAGAATTTAAGCAACAATATAAACAAAAGT... | CCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGGAACACACTTCAGAAAAGTAAAAGGATGGTGGCATGCCTAAAAGGACACAAGAGCCAAATGAATTGGGTTCCCAGAGCTGAAAGAATTTAAGCAACAATATAAACAAAAGT... | benign | 26,932 |
Evaluate if the mutation on chromosome 1 at position 241513627 in FH (fumarate hydratase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | TAGCTAAGAGTACTGTATCTATGTTAATTTCTTAGTTTTGATAAATGTACCATGGTTACATAAGATGTTAACAATAAGGGAAGCTGAGTGAAGGGATATAGAAACTATTTGAACTATCTTTGCAATTCTCTTATAAATCTAAAATTATTTCAAAATAGAGTTTTAAACAATAAAAAAATACATACACTAAATTCAGGTGTCCTAAAAATAATTTTTATAAGGATTGAAACATAAAACCAAGATTCCTTCAAGAAATAAGAACCATAAGAAGCCTTATCCATTAAATAATGAACACTTCTTGTCAAAAAGTGAATGCTTGT... | TAGCTAAGAGTACTGTATCTATGTTAATTTCTTAGTTTTGATAAATGTACCATGGTTACATAAGATGTTAACAATAAGGGAAGCTGAGTGAAGGGATATAGAAACTATTTGAACTATCTTTGCAATTCTCTTATAAATCTAAAATTATTTCAAAATAGAGTTTTAAACAATAAAAAAATACATACACTAAATTCAGGTGTCCTAAAAATAATTTTTATAAGGATTGAAACATAAAACCAAGATTCCTTCAAGAAATAAGAACCATAAGAAGCCTTATCCATTAAATAATGAACACTTCTTGTCAAAAAGTGAATGCTTGT... | pathogenic | 26,941 |
Clinical classification of chromosome 1, position 241513661, gene FH (fumarate hydratase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | GTTTTGATAAATGTACCATGGTTACATAAGATGTTAACAATAAGGGAAGCTGAGTGAAGGGATATAGAAACTATTTGAACTATCTTTGCAATTCTCTTATAAATCTAAAATTATTTCAAAATAGAGTTTTAAACAATAAAAAAATACATACACTAAATTCAGGTGTCCTAAAAATAATTTTTATAAGGATTGAAACATAAAACCAAGATTCCTTCAAGAAATAAGAACCATAAGAAGCCTTATCCATTAAATAATGAACACTTCTTGTCAAAAAGTGAATGCTTGTTTTACAAGAACAATCTCAGGTATGCTTTTCAATT... | GTTTTGATAAATGTACCATGGTTACATAAGATGTTAACAATAAGGGAAGCTGAGTGAAGGGATATAGAAACTATTTGAACTATCTTTGCAATTCTCTTATAAATCTAAAATTATTTCAAAATAGAGTTTTAAACAATAAAAAAATACATACACTAAATTCAGGTGTCCTAAAAATAATTTTTATAAGGATTGAAACATAAAACCAAGATTCCTTCAAGAAATAAGAACCATAAGAAGCCTTATCCATTAAATAATGAACACTTCTTGTCAAAAAGTGAATGCTTGTTTTACAAGAACAATCTCAGGTATGCTTTTCAATT... | pathogenic | 26,948 |
For chromosome 1, position 241513664, gene FH (fumarate hydratase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTGATAAATGTACCATGGTTACATAAGATGTTAACAATAAGGGAAGCTGAGTGAAGGGATATAGAAACTATTTGAACTATCTTTGCAATTCTCTTATAAATCTAAAATTATTTCAAAATAGAGTTTTAAACAATAAAAAAATACATACACTAAATTCAGGTGTCCTAAAAATAATTTTTATAAGGATTGAAACATAAAACCAAGATTCCTTCAAGAAATAAGAACCATAAGAAGCCTTATCCATTAAATAATGAACACTTCTTGTCAAAAAGTGAATGCTTGTTTTACAAGAACAATCTCAGGTATGCTTTTCAATTTAT... | TTGATAAATGTACCATGGTTACATAAGATGTTAACAATAAGGGAAGCTGAGTGAAGGGATATAGAAACTATTTGAACTATCTTTGCAATTCTCTTATAAATCTAAAATTATTTCAAAATAGAGTTTTAAACAATAAAAAAATACATACACTAAATTCAGGTGTCCTAAAAATAATTTTTATAAGGATTGAAACATAAAACCAAGATTCCTTCAAGAAATAAGAACCATAAGAAGCCTTATCCATTAAATAATGAACACTTCTTGTCAAAAAGTGAATGCTTGTTTTACAAGAACAATCTCAGGTATGCTTTTCAATTTAT... | pathogenic | 26,950 |
The mutation in gene FH (fumarate hydratase) at chromosome 1, position 241513679—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGGTTACATAAGATGTTAACAATAAGGGAAGCTGAGTGAAGGGATATAGAAACTATTTGAACTATCTTTGCAATTCTCTTATAAATCTAAAATTATTTCAAAATAGAGTTTTAAACAATAAAAAAATACATACACTAAATTCAGGTGTCCTAAAAATAATTTTTATAAGGATTGAAACATAAAACCAAGATTCCTTCAAGAAATAAGAACCATAAGAAGCCTTATCCATTAAATAATGAACACTTCTTGTCAAAAAGTGAATGCTTGTTTTACAAGAACAATCTCAGGTATGCTTTTCAATTTATAACCAAAAAACAGCA... | TGGTTACATAAGATGTTAACAATAAGGGAAGCTGAGTGAAGGGATATAGAAACTATTTGAACTATCTTTGCAATTCTCTTATAAATCTAAAATTATTTCAAAATAGAGTTTTAAACAATAAAAAAATACATACACTAAATTCAGGTGTCCTAAAAATAATTTTTATAAGGATTGAAACATAAAACCAAGATTCCTTCAAGAAATAAGAACCATAAGAAGCCTTATCCATTAAATAATGAACACTTCTTGTCAAAAAGTGAATGCTTGTTTTACAAGAACAATCTCAGGTATGCTTTTCAATTTATAACCAAAAAACAGCA... | pathogenic | 26,956 |
Evaluate if the mutation on chromosome 1 at position 241513727 in FH (fumarate hydratase) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GAAACTATTTGAACTATCTTTGCAATTCTCTTATAAATCTAAAATTATTTCAAAATAGAGTTTTAAACAATAAAAAAATACATACACTAAATTCAGGTGTCCTAAAAATAATTTTTATAAGGATTGAAACATAAAACCAAGATTCCTTCAAGAAATAAGAACCATAAGAAGCCTTATCCATTAAATAATGAACACTTCTTGTCAAAAAGTGAATGCTTGTTTTACAAGAACAATCTCAGGTATGCTTTTCAATTTATAACCAAAAAACAGCAAAGCTCACATACTGACCTGGCTTTTATTAACATGATCGTTGGGATGCA... | GAAACTATTTGAACTATCTTTGCAATTCTCTTATAAATCTAAAATTATTTCAAAATAGAGTTTTAAACAATAAAAAAATACATACACTAAATTCAGGTGTCCTAAAAATAATTTTTATAAGGATTGAAACATAAAACCAAGATTCCTTCAAGAAATAAGAACCATAAGAAGCCTTATCCATTAAATAATGAACACTTCTTGTCAAAAAGTGAATGCTTGTTTTACAAGAACAATCTCAGGTATGCTTTTCAATTTATAACCAAAAAACAGCAAAGCTCACATACTGACCTGGCTTTTATTAACATGATCGTTGGGATGCA... | benign | 26,966 |
Evaluate if the mutation on chromosome 1 at position 241517171 in FH (fumarate hydratase) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGTTTTCCTCTGGACCTCAAGTAAAAAGGGTTGAGTTTAATCATACTACTCAGTTTAGAGTACATACAGACTGTTTTACACATAATAAAGTTCAGAAAGTATGACAAAATCGAGACCCCAGGTGTCTGCCTTTCACAGGTGTGCAATCCCAATGGCTGTGCTGTCTCTGGAGCAGCAGCAGCAGGAACCATGCCCCACCAGAACCACAAAACATGCTGGTGACACAGATCAATGAAAACGGCAGCCATGCTCACTCCCACCAACACTAGCTGGGGCTGACCTCCTCCTTAGTCTCTGGAGTTGAATAATATGAGATTATT... | TGTTTTCCTCTGGACCTCAAGTAAAAAGGGTTGAGTTTAATCATACTACTCAGTTTAGAGTACATACAGACTGTTTTACACATAATAAAGTTCAGAAAGTATGACAAAATCGAGACCCCAGGTGTCTGCCTTTCACAGGTGTGCAATCCCAATGGCTGTGCTGTCTCTGGAGCAGCAGCAGCAGGAACCATGCCCCACCAGAACCACAAAACATGCTGGTGACACAGATCAATGAAAACGGCAGCCATGCTCACTCCCACCAACACTAGCTGGGGCTGACCTCCTCCTTAGTCTCTGGAGTTGAATAATATGAGATTATT... | benign | 26,968 |
Classify the chromosome 1 variant at position 241517171 affecting gene FH (fumarate hydratase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_leiomyomatosis_and_renal_cell_cancer'] | TGTTTTCCTCTGGACCTCAAGTAAAAAGGGTTGAGTTTAATCATACTACTCAGTTTAGAGTACATACAGACTGTTTTACACATAATAAAGTTCAGAAAGTATGACAAAATCGAGACCCCAGGTGTCTGCCTTTCACAGGTGTGCAATCCCAATGGCTGTGCTGTCTCTGGAGCAGCAGCAGCAGGAACCATGCCCCACCAGAACCACAAAACATGCTGGTGACACAGATCAATGAAAACGGCAGCCATGCTCACTCCCACCAACACTAGCTGGGGCTGACCTCCTCCTTAGTCTCTGGAGTTGAATAATATGAGATTATT... | TGTTTTCCTCTGGACCTCAAGTAAAAAGGGTTGAGTTTAATCATACTACTCAGTTTAGAGTACATACAGACTGTTTTACACATAATAAAGTTCAGAAAGTATGACAAAATCGAGACCCCAGGTGTCTGCCTTTCACAGGTGTGCAATCCCAATGGCTGTGCTGTCTCTGGAGCAGCAGCAGCAGGAACCATGCCCCACCAGAACCACAAAACATGCTGGTGACACAGATCAATGAAAACGGCAGCCATGCTCACTCCCACCAACACTAGCTGGGGCTGACCTCCTCCTTAGTCTCTGGAGTTGAATAATATGAGATTATT... | pathogenic | 26,969 |
Variant at chromosome 1, position 241517209, gene FH (fumarate hydratase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Fumarase_deficiency', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | AATCATACTACTCAGTTTAGAGTACATACAGACTGTTTTACACATAATAAAGTTCAGAAAGTATGACAAAATCGAGACCCCAGGTGTCTGCCTTTCACAGGTGTGCAATCCCAATGGCTGTGCTGTCTCTGGAGCAGCAGCAGCAGGAACCATGCCCCACCAGAACCACAAAACATGCTGGTGACACAGATCAATGAAAACGGCAGCCATGCTCACTCCCACCAACACTAGCTGGGGCTGACCTCCTCCTTAGTCTCTGGAGTTGAATAATATGAGATTATTTTAGGATTGGTCACTACCCTTTTTCACCTAACCACGTA... | AATCATACTACTCAGTTTAGAGTACATACAGACTGTTTTACACATAATAAAGTTCAGAAAGTATGACAAAATCGAGACCCCAGGTGTCTGCCTTTCACAGGTGTGCAATCCCAATGGCTGTGCTGTCTCTGGAGCAGCAGCAGCAGGAACCATGCCCCACCAGAACCACAAAACATGCTGGTGACACAGATCAATGAAAACGGCAGCCATGCTCACTCCCACCAACACTAGCTGGGGCTGACCTCCTCCTTAGTCTCTGGAGTTGAATAATATGAGATTATTTTAGGATTGGTCACTACCCTTTTTCACCTAACCACGTA... | pathogenic | 26,977 |
Does the chromosome 1 mutation at position 241517211 within gene FH (fumarate hydratase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TCATACTACTCAGTTTAGAGTACATACAGACTGTTTTACACATAATAAAGTTCAGAAAGTATGACAAAATCGAGACCCCAGGTGTCTGCCTTTCACAGGTGTGCAATCCCAATGGCTGTGCTGTCTCTGGAGCAGCAGCAGCAGGAACCATGCCCCACCAGAACCACAAAACATGCTGGTGACACAGATCAATGAAAACGGCAGCCATGCTCACTCCCACCAACACTAGCTGGGGCTGACCTCCTCCTTAGTCTCTGGAGTTGAATAATATGAGATTATTTTAGGATTGGTCACTACCCTTTTTCACCTAACCACGTAGT... | TCATACTACTCAGTTTAGAGTACATACAGACTGTTTTACACATAATAAAGTTCAGAAAGTATGACAAAATCGAGACCCCAGGTGTCTGCCTTTCACAGGTGTGCAATCCCAATGGCTGTGCTGTCTCTGGAGCAGCAGCAGCAGGAACCATGCCCCACCAGAACCACAAAACATGCTGGTGACACAGATCAATGAAAACGGCAGCCATGCTCACTCCCACCAACACTAGCTGGGGCTGACCTCCTCCTTAGTCTCTGGAGTTGAATAATATGAGATTATTTTAGGATTGGTCACTACCCTTTTTCACCTAACCACGTAGT... | pathogenic | 26,978 |
Assess the variant on chromosome 1, position 241517271, impacting FH (fumarate hydratase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATGACAAAATCGAGACCCCAGGTGTCTGCCTTTCACAGGTGTGCAATCCCAATGGCTGTGCTGTCTCTGGAGCAGCAGCAGCAGGAACCATGCCCCACCAGAACCACAAAACATGCTGGTGACACAGATCAATGAAAACGGCAGCCATGCTCACTCCCACCAACACTAGCTGGGGCTGACCTCCTCCTTAGTCTCTGGAGTTGAATAATATGAGATTATTTTAGGATTGGTCACTACCCTTTTTCACCTAACCACGTAGTCAAACTATGTTTACCTCACCACCAAGAAGGCTGTAGATGGCAATGACAAAGATATTCTCA... | ATGACAAAATCGAGACCCCAGGTGTCTGCCTTTCACAGGTGTGCAATCCCAATGGCTGTGCTGTCTCTGGAGCAGCAGCAGCAGGAACCATGCCCCACCAGAACCACAAAACATGCTGGTGACACAGATCAATGAAAACGGCAGCCATGCTCACTCCCACCAACACTAGCTGGGGCTGACCTCCTCCTTAGTCTCTGGAGTTGAATAATATGAGATTATTTTAGGATTGGTCACTACCCTTTTTCACCTAACCACGTAGTCAAACTATGTTTACCTCACCACCAAGAAGGCTGTAGATGGCAATGACAAAGATATTCTCA... | pathogenic | 26,997 |
Located at chromosome 1 position 241519682, the variant affecting gene FH (fumarate hydratase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Fumarase_deficiency', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | CCAATTCAATGTACTTAGTTTAATGCTTATTTTACTGGGAACTTTTGAAAACGGTCTAAGAATGATTATTTGAAATTTATAAACATTATTTATATATAAACATTATTCACATATATTACATATGTATATTCATTTATATAAGAAATGTATAAACATTATTTACATATATAAACACTATATATATGCCATCATGCTACCAAGTCAGTATCACAGTTGGTCTGCCTGTTAAATATTCTCATTCTCAATGCACTTTTTAATGCATTTTTAATAATCAATGATCACACTAATTATTCATGTGTGATTTATTTGCTTATTTAACT... | CCAATTCAATGTACTTAGTTTAATGCTTATTTTACTGGGAACTTTTGAAAACGGTCTAAGAATGATTATTTGAAATTTATAAACATTATTTATATATAAACATTATTCACATATATTACATATGTATATTCATTTATATAAGAAATGTATAAACATTATTTACATATATAAACACTATATATATGCCATCATGCTACCAAGTCAGTATCACAGTTGGTCTGCCTGTTAAATATTCTCATTCTCAATGCACTTTTTAATGCATTTTTAATAATCAATGATCACACTAATTATTCATGTGTGATTTATTTGCTTATTTAACT... | pathogenic | 27,045 |
A genetic variant at chromosome 1, position 243308092, affecting gene SDCCAG8 (SHH signaling and ciliogenesis regulator SDCCAG8)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Bardet-Biedl_syndrome_16', 'Senior-Loken_syndrome_7'] | CCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCATCTAAAAAAAAAAAAAAAAAAAAAAACCGAGCTGGAACTCATAGCTTTCACTGTACATGGTTGTTTATTTTTTAAATGTTCTTATGTTTTTCATAGATTACCCTGATTAGTTTTAGGATTTCTCTTAGAGATTTTTACTTTTTTACAAAGAAATGTTAACATTTAAAAAATACTCTAATTTTTGCTTTCTTGTTTTTTGTCCTATTTTATTTTATTTTGATTTTATTTACGACTTGATTCTTTAGTTTTTAAAGTGATGTATTTCTAGATCATTGTACTTAA... | CCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCATCTAAAAAAAAAAAAAAAAAAAAAAACCGAGCTGGAACTCATAGCTTTCACTGTACATGGTTGTTTATTTTTTAAATGTTCTTATGTTTTTCATAGATTACCCTGATTAGTTTTAGGATTTCTCTTAGAGATTTTTACTTTTTTACAAAGAAATGTTAACATTTAAAAAATACTCTAATTTTTGCTTTCTTGTTTTTTGTCCTATTTTATTTTATTTTGATTTTATTTACGACTTGATTCTTTAGTTTTTAAAGTGATGTATTTCTAGATCATTGTACTTAA... | pathogenic | 27,108 |
Gene SDCCAG8 (SHH signaling and ciliogenesis regulator SDCCAG8) variant at chromosome position 243330627 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bardet-Biedl_syndrome_16', 'Senior-Loken_syndrome_7'] | TAACCAGTTTTTAACCTAATATTTTTATTCAGTGTTTTGTTGCCCATTACTCATCATCAGCCATTGGTGGTGGCCATTCCTAATAGAGAGAAGACCATCCACAAAACCAAGGCCTCAGCAGTGGTTTTGTTTACATGATTTTACAGCTTCTCACTTTGTGCTTTTCACTGTATCATCCTATCTTGGCATTACACCTCTTATCCTGCCAGGATTATTTACTGTTGCTTGTTCTTTAGTTGACTGAGTTCTTTGAATTGATTCTGTAGGTGCCTTTCATGGTAGCCTGGTTTTAGATCTTCAGTCTCTTCTGCTGTTCCTAT... | TAACCAGTTTTTAACCTAATATTTTTATTCAGTGTTTTGTTGCCCATTACTCATCATCAGCCATTGGTGGTGGCCATTCCTAATAGAGAGAAGACCATCCACAAAACCAAGGCCTCAGCAGTGGTTTTGTTTACATGATTTTACAGCTTCTCACTTTGTGCTTTTCACTGTATCATCCTATCTTGGCATTACACCTCTTATCCTGCCAGGATTATTTACTGTTGCTTGTTCTTTAGTTGACTGAGTTCTTTGAATTGATTCTGTAGGTGCCTTTCATGGTAGCCTGGTTTTAGATCTTCAGTCTCTTCTGCTGTTCCTAT... | pathogenic | 27,123 |
Located at chromosome 1 position 243344276, the variant affecting gene SDCCAG8 (SHH signaling and ciliogenesis regulator SDCCAG8)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_16', 'Senior-Loken_syndrome_7'] | AGTTGATAATAGAGAGGCAGCTTTCTGTTGAAATCAGTACAGCAGAGAGAGAGTTCTCTGTCTCAAGAACTAGCTGAAAGGACATATACATCAGAAGAGCGATTAGACTAAATCGCCTTGAAGTTGCTTCCAACGTGGAGATAACATAGTTCTGGTTCAATTTAATGTGTTAATTTATTTGAAATAGAATTTGAGTGCTGTGGATAAACATAGCAAATGCTGAACTGAAAGTAGTAAAGCAGGGAACTGTAGGAGTGAAATGAAGGGATAAAATAATTTTAAATAAGACCTGCTGCTTAAACAGTTTTTACATAACCAGC... | AGTTGATAATAGAGAGGCAGCTTTCTGTTGAAATCAGTACAGCAGAGAGAGAGTTCTCTGTCTCAAGAACTAGCTGAAAGGACATATACATCAGAAGAGCGATTAGACTAAATCGCCTTGAAGTTGCTTCCAACGTGGAGATAACATAGTTCTGGTTCAATTTAATGTGTTAATTTATTTGAAATAGAATTTGAGTGCTGTGGATAAACATAGCAAATGCTGAACTGAAAGTAGTAAAGCAGGGAACTGTAGGAGTGAAATGAAGGGATAAAATAATTTTAAATAAGACCTGCTGCTTAAACAGTTTTTACATAACCAGC... | pathogenic | 27,125 |
Does the genetic variant at chromosome 1, position 243344297, impacting gene SDCCAG8 (SHH signaling and ciliogenesis regulator SDCCAG8), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_16', 'Senior-Loken_syndrome_7'] | TTTCTGTTGAAATCAGTACAGCAGAGAGAGAGTTCTCTGTCTCAAGAACTAGCTGAAAGGACATATACATCAGAAGAGCGATTAGACTAAATCGCCTTGAAGTTGCTTCCAACGTGGAGATAACATAGTTCTGGTTCAATTTAATGTGTTAATTTATTTGAAATAGAATTTGAGTGCTGTGGATAAACATAGCAAATGCTGAACTGAAAGTAGTAAAGCAGGGAACTGTAGGAGTGAAATGAAGGGATAAAATAATTTTAAATAAGACCTGCTGCTTAAACAGTTTTTACATAACCAGCTTGTATTGGTGTTGGGTTTTA... | TTTCTGTTGAAATCAGTACAGCAGAGAGAGAGTTCTCTGTCTCAAGAACTAGCTGAAAGGACATATACATCAGAAGAGCGATTAGACTAAATCGCCTTGAAGTTGCTTCCAACGTGGAGATAACATAGTTCTGGTTCAATTTAATGTGTTAATTTATTTGAAATAGAATTTGAGTGCTGTGGATAAACATAGCAAATGCTGAACTGAAAGTAGTAAAGCAGGGAACTGTAGGAGTGAAATGAAGGGATAAAATAATTTTAAATAAGACCTGCTGCTTAAACAGTTTTTACATAACCAGCTTGTATTGGTGTTGGGTTTTA... | pathogenic | 27,126 |
Located at chromosome 1 position 243344378, the variant affecting gene SDCCAG8 (SHH signaling and ciliogenesis regulator SDCCAG8)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TTAGACTAAATCGCCTTGAAGTTGCTTCCAACGTGGAGATAACATAGTTCTGGTTCAATTTAATGTGTTAATTTATTTGAAATAGAATTTGAGTGCTGTGGATAAACATAGCAAATGCTGAACTGAAAGTAGTAAAGCAGGGAACTGTAGGAGTGAAATGAAGGGATAAAATAATTTTAAATAAGACCTGCTGCTTAAACAGTTTTTACATAACCAGCTTGTATTGGTGTTGGGTTTTAAACATCATGGTTGTATAATTATTATCTTCTGATGTTATCAGTTCGGGGTTTTATTCCATTTTATTCATAGACATAAATATT... | TTAGACTAAATCGCCTTGAAGTTGCTTCCAACGTGGAGATAACATAGTTCTGGTTCAATTTAATGTGTTAATTTATTTGAAATAGAATTTGAGTGCTGTGGATAAACATAGCAAATGCTGAACTGAAAGTAGTAAAGCAGGGAACTGTAGGAGTGAAATGAAGGGATAAAATAATTTTAAATAAGACCTGCTGCTTAAACAGTTTTTACATAACCAGCTTGTATTGGTGTTGGGTTTTAAACATCATGGTTGTATAATTATTATCTTCTGATGTTATCAGTTCGGGGTTTTATTCCATTTTATTCATAGACATAAATATT... | benign | 27,127 |
Variant at chromosome position 243378821, chromosome 1, gene SDCCAG8 (SHH signaling and ciliogenesis regulator SDCCAG8): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_16', 'Senior-Loken_syndrome_7'] | TTCATGGTCTCCCTTCCGCCATTCTTTGCCACCTTAAACTGATTGTACACATTGATCCAGTTTTCTCAAGCTCAACCTCTGTCATATTGCATACCTGTTTAAACCATTAATGTCACCCTATTATCTATAAGAAAAATGTAGCGTTATTAATCTACAATTAAAGAGCTTTCATAATGTGATCTAAAGTATCACTCCGGAGCTTTTGTGCCCTTACTTCTTTCTCACTTTTCTTGCTCATGCTAATATATCCCTCATCTGGCTACTGAGGCATGAATTTTCTCTATAACTCAGTTGGTGTTTTTATATGCTTTGCATTTTGA... | TTCATGGTCTCCCTTCCGCCATTCTTTGCCACCTTAAACTGATTGTACACATTGATCCAGTTTTCTCAAGCTCAACCTCTGTCATATTGCATACCTGTTTAAACCATTAATGTCACCCTATTATCTATAAGAAAAATGTAGCGTTATTAATCTACAATTAAAGAGCTTTCATAATGTGATCTAAAGTATCACTCCGGAGCTTTTGTGCCCTTACTTCTTTCTCACTTTTCTTGCTCATGCTAATATATCCCTCATCTGGCTACTGAGGCATGAATTTTCTCTATAACTCAGTTGGTGTTTTTATATGCTTTGCATTTTGA... | pathogenic | 27,129 |
Considering the variant on chromosome 1, location 244054716, involving gene ZBTB18 (zinc finger and BTB domain containing 18), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Intellectual_disability,_autosomal_dominant_22'] | ACAAAACAAGGGCAATGATGAATATTTGCAAGAATAGAAGCTAGTGGGAAAACAGAAATATATCAAATTATATTGAAACAAAGTATTTTCTGTTGGCTGAGGTAAGGCAGAACCAGGAAAAAAAAAAAGGTTCTCTTTTTCTAAAAAGGCTTAAAAAAAAACGTTGAACCTGTAAAGCTTTTGAGTTTTATTTAAGCGCTGTATGCCTTTATTTTTAAAAGTTTGAATTAATTTCAATATGAAACTCATTTTGCCTTGCAACGGATCAAAGTTTAGATGAGAATTTTCGGAGTTCAGTAAAGCCCCTCTGGTTCCTAATA... | ACAAAACAAGGGCAATGATGAATATTTGCAAGAATAGAAGCTAGTGGGAAAACAGAAATATATCAAATTATATTGAAACAAAGTATTTTCTGTTGGCTGAGGTAAGGCAGAACCAGGAAAAAAAAAAAGGTTCTCTTTTTCTAAAAAGGCTTAAAAAAAAACGTTGAACCTGTAAAGCTTTTGAGTTTTATTTAAGCGCTGTATGCCTTTATTTTTAAAAGTTTGAATTAATTTCAATATGAAACTCATTTTGCCTTGCAACGGATCAAAGTTTAGATGAGAATTTTCGGAGTTCAGTAAAGCCCCTCTGGTTCCTAATA... | pathogenic | 27,170 |
The mutation impacting ZBTB18 (zinc finger and BTB domain containing 18) on chromosome 1 at position 244054916: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Intellectual_disability,_autosomal_dominant_22'] | GTATGCCTTTATTTTTAAAAGTTTGAATTAATTTCAATATGAAACTCATTTTGCCTTGCAACGGATCAAAGTTTAGATGAGAATTTTCGGAGTTCAGTAAAGCCCCTCTGGTTCCTAATATTCTGAAAGTACAGTTTCTACAAAGAAATGTAACTACTTTTTTCTCAGTTCGTTTTGAAAAATCTTTGGATTTGTTCATAGTAAAGATGATCTTTTCCATCTGTTGGTGCAGCTCCTTCTGATCTCGTACATGTGTGCTATACCTGCAAATCTGAAGGCATTAACATCTGTTTTTATACACAGGGCTTTTGTTGTAACAC... | GTATGCCTTTATTTTTAAAAGTTTGAATTAATTTCAATATGAAACTCATTTTGCCTTGCAACGGATCAAAGTTTAGATGAGAATTTTCGGAGTTCAGTAAAGCCCCTCTGGTTCCTAATATTCTGAAAGTACAGTTTCTACAAAGAAATGTAACTACTTTTTTCTCAGTTCGTTTTGAAAAATCTTTGGATTTGTTCATAGTAAAGATGATCTTTTCCATCTGTTGGTGCAGCTCCTTCTGATCTCGTACATGTGTGCTATACCTGCAAATCTGAAGGCATTAACATCTGTTTTTATACACAGGGCTTTTGTTGTAACAC... | pathogenic | 27,173 |
Mutation at chromosome 1, position 244842190, within COX20 (cytochrome c oxidase assembly factor COX20): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | ATTTACTTTTATTTAAAAAAATAAAATTTCCTAAAGCAGTGTTTCCCCAATATGACAGTCATCAGAAAAAACCACCTAGAGTTTTCTAAACATAGATTCCAGTGATTGTAAATCAGAATCTGAGAGTGGGACTAGAAAATACTTAATTCTATCCTGTGGTACAAGCTGGTCTCACACTTGCATCTTTGCACCTAAGACTAGATCAAACTGGTACTAATCCTCTGGCCCCAGCATCCCATCCTTGGGGAAATAGTCTAGTTTAGAGGTAGTCCTGGACTGGAGCGCTAAGTCCAGCATTCCTCACCTGCATAACACTACCC... | ATTTACTTTTATTTAAAAAAATAAAATTTCCTAAAGCAGTGTTTCCCCAATATGACAGTCATCAGAAAAAACCACCTAGAGTTTTCTAAACATAGATTCCAGTGATTGTAAATCAGAATCTGAGAGTGGGACTAGAAAATACTTAATTCTATCCTGTGGTACAAGCTGGTCTCACACTTGCATCTTTGCACCTAAGACTAGATCAAACTGGTACTAATCCTCTGGCCCCAGCATCCCATCCTTGGGGAAATAGTCTAGTTTAGAGGTAGTCCTGGACTGGAGCGCTAAGTCCAGCATTCCTCACCTGCATAACACTACCC... | benign | 27,198 |
Classify the chromosome 1 variant at position 244855455 affecting gene HNRNPU (heterogeneous nuclear ribonucleoprotein U) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | TGCAAACAAACGTCTAAATTAATTTCTCCACCCACTTTCTTTAGAAAGAAAAAGAAATCAGCAGGCTAAGGAGATACCCATTCAAGAACTGACATGATTAAAAATTAAGATATAAATGGGTGACTCACAATTTCATTAGCTTACAAAGATGGTGGAGTTAACTACTACAAGCACACTAGTTATACAGTATTTTGTGGGAGAAGGGCATACAGACATGGCTAACTTCATATAGATCCCATTAGACAACTGGATTTACAACAAGTTTTTTTAATAAGAAATGGGCAAAGCCAGCTTTCTTTTCAGAATCAAAATGCAGAACA... | TGCAAACAAACGTCTAAATTAATTTCTCCACCCACTTTCTTTAGAAAGAAAAAGAAATCAGCAGGCTAAGGAGATACCCATTCAAGAACTGACATGATTAAAAATTAAGATATAAATGGGTGACTCACAATTTCATTAGCTTACAAAGATGGTGGAGTTAACTACTACAAGCACACTAGTTATACAGTATTTTGTGGGAGAAGGGCATACAGACATGGCTAACTTCATATAGATCCCATTAGACAACTGGATTTACAACAAGTTTTTTTAATAAGAAATGGGCAAAGCCAGCTTTCTTTTCAGAATCAAAATGCAGAACA... | pathogenic | 27,212 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 244855470, gene HNRNPU (heterogeneous nuclear ribonucleoprotein U). What disease(s) is it linked to if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_54', 'Intellectual_disability_and_seizures'] | AAATTAATTTCTCCACCCACTTTCTTTAGAAAGAAAAAGAAATCAGCAGGCTAAGGAGATACCCATTCAAGAACTGACATGATTAAAAATTAAGATATAAATGGGTGACTCACAATTTCATTAGCTTACAAAGATGGTGGAGTTAACTACTACAAGCACACTAGTTATACAGTATTTTGTGGGAGAAGGGCATACAGACATGGCTAACTTCATATAGATCCCATTAGACAACTGGATTTACAACAAGTTTTTTTAATAAGAAATGGGCAAAGCCAGCTTTCTTTTCAGAATCAAAATGCAGAACAAATGGAAAAATTATG... | AAATTAATTTCTCCACCCACTTTCTTTAGAAAGAAAAAGAAATCAGCAGGCTAAGGAGATACCCATTCAAGAACTGACATGATTAAAAATTAAGATATAAATGGGTGACTCACAATTTCATTAGCTTACAAAGATGGTGGAGTTAACTACTACAAGCACACTAGTTATACAGTATTTTGTGGGAGAAGGGCATACAGACATGGCTAACTTCATATAGATCCCATTAGACAACTGGATTTACAACAAGTTTTTTTAATAAGAAATGGGCAAAGCCAGCTTTCTTTTCAGAATCAAAATGCAGAACAAATGGAAAAATTATG... | pathogenic | 27,214 |
Mutation at chromosome 1, position 244855504, within HNRNPU (heterogeneous nuclear ribonucleoprotein U): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Epileptic_encephalopathy'] | AAAAGAAATCAGCAGGCTAAGGAGATACCCATTCAAGAACTGACATGATTAAAAATTAAGATATAAATGGGTGACTCACAATTTCATTAGCTTACAAAGATGGTGGAGTTAACTACTACAAGCACACTAGTTATACAGTATTTTGTGGGAGAAGGGCATACAGACATGGCTAACTTCATATAGATCCCATTAGACAACTGGATTTACAACAAGTTTTTTTAATAAGAAATGGGCAAAGCCAGCTTTCTTTTCAGAATCAAAATGCAGAACAAATGGAAAAATTATGGTATTAACCTTCACAAGTTTGAGCCTCCACAAAT... | AAAAGAAATCAGCAGGCTAAGGAGATACCCATTCAAGAACTGACATGATTAAAAATTAAGATATAAATGGGTGACTCACAATTTCATTAGCTTACAAAGATGGTGGAGTTAACTACTACAAGCACACTAGTTATACAGTATTTTGTGGGAGAAGGGCATACAGACATGGCTAACTTCATATAGATCCCATTAGACAACTGGATTTACAACAAGTTTTTTTAATAAGAAATGGGCAAAGCCAGCTTTCTTTTCAGAATCAAAATGCAGAACAAATGGAAAAATTATGGTATTAACCTTCACAAGTTTGAGCCTCCACAAAT... | pathogenic | 27,215 |
Clinical significance of chromosome 1, position 244856789, gene HNRNPU (heterogeneous nuclear ribonucleoprotein U): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_54'] | ACTGTATATATTAAATAATATTACTTTATTAAAAAAATTTAACTTATAGCAATCTTCAACCTATTTTGCCTTCAAAAGGTAGATTATGGCTACTACTGCAAGACGATTCACACTTTACCCTATTAACACTTATAAACACTTCAATCCCTGAACAAGATCTTTTTCAAGACTGATAAATCTTAGGAACTCAAAATACAATTAATGTACATAAAGCACATAAGAAATTACTTACACCCTGCTGCCACTGGTTGTAGCCCTGAGATTGATTTTTGTAGCCACGATTGTTTCCTCGTCCTCTGAAGTTCTACAAAAAGGAAATA... | ACTGTATATATTAAATAATATTACTTTATTAAAAAAATTTAACTTATAGCAATCTTCAACCTATTTTGCCTTCAAAAGGTAGATTATGGCTACTACTGCAAGACGATTCACACTTTACCCTATTAACACTTATAAACACTTCAATCCCTGAACAAGATCTTTTTCAAGACTGATAAATCTTAGGAACTCAAAATACAATTAATGTACATAAAGCACATAAGAAATTACTTACACCCTGCTGCCACTGGTTGTAGCCCTGAGATTGATTTTTGTAGCCACGATTGTTTCCTCGTCCTCTGAAGTTCTACAAAAAGGAAATA... | pathogenic | 27,230 |
The genetic variant at chromosome 1, position 244857989, affecting gene HNRNPU (heterogeneous nuclear ribonucleoprotein U): benign or pathogenic? Disease name(s) if pathogenic? | benign | TCCACGTCCTCTATGGCCACCACCTCTGTTAAACTGGTTCTTGCCACTCTTATTTTTATTGCTTTTCTTTGAGCCAGTGTTCTGTTTCTTTTCTGGTGGAAGAGCCTTTTTGCTTTCTTCCTTATATTGCTCCAAGAGTTTTTGGGCTTCTTCCTTCTGAAGTTCAACATAGGTTATTTCATCAAAGCACTCAGCTACCTCTGGGAGGGTAAAGTTTCCTGCAGGAAACAAAGTCATATTATTAATTTAGAAACCCACCACGAATCCTCACAATCCTAAAGCTGACAATTCTTGAGGTTTAGTAACATATTTTCCTAAAA... | TCCACGTCCTCTATGGCCACCACCTCTGTTAAACTGGTTCTTGCCACTCTTATTTTTATTGCTTTTCTTTGAGCCAGTGTTCTGTTTCTTTTCTGGTGGAAGAGCCTTTTTGCTTTCTTCCTTATATTGCTCCAAGAGTTTTTGGGCTTCTTCCTTCTGAAGTTCAACATAGGTTATTTCATCAAAGCACTCAGCTACCTCTGGGAGGGTAAAGTTTCCTGCAGGAAACAAAGTCATATTATTAATTTAGAAACCCACCACGAATCCTCACAATCCTAAAGCTGACAATTCTTGAGGTTTAGTAACATATTTTCCTAAAA... | benign | 27,235 |
Clinically, how would you classify the variant at chromosome 1, position 244859330, gene HNRNPU (heterogeneous nuclear ribonucleoprotein U): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_54'] | GTCGCCCAGACTGGAGTACAATGGCACGATCTCAACTCACTGCAACCTCTGCCTCCCAGGTTCAAGTAATTGTCCCTGCCTCAACCTCCCGAGCAGCTGGGATTACAGGAACCCACTACCACACCCAGCTAATTTTTAAATTTTTAGTAGGAACGGGGCTTCGCCATGTTGGCCAGGTGGGTCTCAAACTCCTGACCTCAGGTGATCCATCCACCTCAGCCTCTCAAAATGCTGAGATTACAGGCGTGAACCACCATGCCCAGCCTCTCCCAGTCTATTTTAAACACTGAGATCAGGCCCTAAACATTTTACTTACCATC... | GTCGCCCAGACTGGAGTACAATGGCACGATCTCAACTCACTGCAACCTCTGCCTCCCAGGTTCAAGTAATTGTCCCTGCCTCAACCTCCCGAGCAGCTGGGATTACAGGAACCCACTACCACACCCAGCTAATTTTTAAATTTTTAGTAGGAACGGGGCTTCGCCATGTTGGCCAGGTGGGTCTCAAACTCCTGACCTCAGGTGATCCATCCACCTCAGCCTCTCAAAATGCTGAGATTACAGGCGTGAACCACCATGCCCAGCCTCTCCCAGTCTATTTTAAACACTGAGATCAGGCCCTAAACATTTTACTTACCATC... | pathogenic | 27,250 |
A genetic variant at chromosome 1, position 244862539, affecting gene HNRNPU (heterogeneous nuclear ribonucleoprotein U)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_54'] | TACTGTGTTACTTTTGACATCCAATGTAAACATATCTGCTATGTAGACAAAACTTGGTTACTTAATTTTTGCATGTACTTCTTAATGCTGCACAACTTTTCTCCACATCATGCTGTTGTTCCAATTTTCAGTTTAAAGCCCCACTCCCACCAAGTCACTCCTGTTAAATTATGTACTGAAAAGTAAACTGCCTGTGAAACTAATACCAAGGTTTAACATGTATATTTTAAGTATTTAAAATAATCAAGACAATGTGACATTAATACATACCTGCTCTGCTCTTTACCTTGATTTAGAGGCAAGCAGTAGAGGATAGCAGG... | TACTGTGTTACTTTTGACATCCAATGTAAACATATCTGCTATGTAGACAAAACTTGGTTACTTAATTTTTGCATGTACTTCTTAATGCTGCACAACTTTTCTCCACATCATGCTGTTGTTCCAATTTTCAGTTTAAAGCCCCACTCCCACCAAGTCACTCCTGTTAAATTATGTACTGAAAAGTAAACTGCCTGTGAAACTAATACCAAGGTTTAACATGTATATTTTAAGTATTTAAAATAATCAAGACAATGTGACATTAATACATACCTGCTCTGCTCTTTACCTTGATTTAGAGGCAAGCAGTAGAGGATAGCAGG... | pathogenic | 27,256 |
Evaluate this variant at chromosome 1, position 244863639, gene HNRNPU (heterogeneous nuclear ribonucleoprotein U): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CATGAGAAGCTAAGCTCCAATGCCTTCCATCTAACACAGCAGGCTGACACCATAGCTGATACTTTTGAAACAGTTATTTTTATCCTTTGGTCTATTTATCACACCCAGAGTTGTACATTCTCATCACTAAACCAACTACGTTTTTTTGTAACAAAAAAAAAAAAAAAAAAAACAAGTCTGACAGTCAAAGCCCACTTAGAGGTTTGCAATACTTTCTCACTCAATTGCAACCCAACTGGGTAAAGTAGCAGTATTTACAGTGCTGCACTGCCATTGATACCATTCGCTGCTGAAGAAAGCTAGTGGCCCAGTGATAGCCC... | CATGAGAAGCTAAGCTCCAATGCCTTCCATCTAACACAGCAGGCTGACACCATAGCTGATACTTTTGAAACAGTTATTTTTATCCTTTGGTCTATTTATCACACCCAGAGTTGTACATTCTCATCACTAAACCAACTACGTTTTTTTGTAACAAAAAAAAAAAAAAAAAAAACAAGTCTGACAGTCAAAGCCCACTTAGAGGTTTGCAATACTTTCTCACTCAATTGCAACCCAACTGGGTAAAGTAGCAGTATTTACAGTGCTGCACTGCCATTGATACCATTCGCTGCTGAAGAAAGCTAGTGGCCCAGTGATAGCCC... | benign | 27,261 |
Classify the chromosome 1 variant at position 244863655 affecting gene HNRNPU (heterogeneous nuclear ribonucleoprotein U) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_54'] | CCAATGCCTTCCATCTAACACAGCAGGCTGACACCATAGCTGATACTTTTGAAACAGTTATTTTTATCCTTTGGTCTATTTATCACACCCAGAGTTGTACATTCTCATCACTAAACCAACTACGTTTTTTTGTAACAAAAAAAAAAAAAAAAAAAACAAGTCTGACAGTCAAAGCCCACTTAGAGGTTTGCAATACTTTCTCACTCAATTGCAACCCAACTGGGTAAAGTAGCAGTATTTACAGTGCTGCACTGCCATTGATACCATTCGCTGCTGAAGAAAGCTAGTGGCCCAGTGATAGCCCACTGCTGCTGCCTCAG... | CCAATGCCTTCCATCTAACACAGCAGGCTGACACCATAGCTGATACTTTTGAAACAGTTATTTTTATCCTTTGGTCTATTTATCACACCCAGAGTTGTACATTCTCATCACTAAACCAACTACGTTTTTTTGTAACAAAAAAAAAAAAAAAAAAAACAAGTCTGACAGTCAAAGCCCACTTAGAGGTTTGCAATACTTTCTCACTCAATTGCAACCCAACTGGGTAAAGTAGCAGTATTTACAGTGCTGCACTGCCATTGATACCATTCGCTGCTGAAGAAAGCTAGTGGCCCAGTGATAGCCCACTGCTGCTGCCTCAG... | pathogenic | 27,263 |
Is the genetic mutation found on chromosome 1 at position 244864032, within the gene HNRNPU (heterogeneous nuclear ribonucleoprotein U), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACAAAAGAGCAGTTATTGAAAAAGTAATATTACAATCTTTTAAAATAGGGAATATACTTGTGTGCTAATGGGAGAAGTCATTAGTAAATATTTAACTAGCCCAAATAGCTCACTTAATATAATTCCACAAAAAAATGAATTACTTTATTGTAGAAGCCTGTAAGGCTAAATTATAGGTAGTGTTACAAGTTTCCGTTAGCTAGTCAAAAACTGGCATTAATTTTACATTTCCTAAGAATGAGAACTTTCAAGTCATAAAAATACGAAACTCCTAGAGCCTGTAAAATAATCCACTTAATACAACTGATGACGTGCTAAAT... | ACAAAAGAGCAGTTATTGAAAAAGTAATATTACAATCTTTTAAAATAGGGAATATACTTGTGTGCTAATGGGAGAAGTCATTAGTAAATATTTAACTAGCCCAAATAGCTCACTTAATATAATTCCACAAAAAAATGAATTACTTTATTGTAGAAGCCTGTAAGGCTAAATTATAGGTAGTGTTACAAGTTTCCGTTAGCTAGTCAAAAACTGGCATTAATTTTACATTTCCTAAGAATGAGAACTTTCAAGTCATAAAAATACGAAACTCCTAGAGCCTGTAAAATAATCCACTTAATACAACTGATGACGTGCTAAAT... | benign | 27,284 |
Clinically, how would you classify the variant at chromosome 1, position 244864101, gene HNRNPU (heterogeneous nuclear ribonucleoprotein U): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_54'] | GGGAGAAGTCATTAGTAAATATTTAACTAGCCCAAATAGCTCACTTAATATAATTCCACAAAAAAATGAATTACTTTATTGTAGAAGCCTGTAAGGCTAAATTATAGGTAGTGTTACAAGTTTCCGTTAGCTAGTCAAAAACTGGCATTAATTTTACATTTCCTAAGAATGAGAACTTTCAAGTCATAAAAATACGAAACTCCTAGAGCCTGTAAAATAATCCACTTAATACAACTGATGACGTGCTAAATATTAAACTACTAGGTTCTGAATGTAAACCATTATCTTCCTGCTTTTAAAAAAACTAACCCAAGTTTTGC... | GGGAGAAGTCATTAGTAAATATTTAACTAGCCCAAATAGCTCACTTAATATAATTCCACAAAAAAATGAATTACTTTATTGTAGAAGCCTGTAAGGCTAAATTATAGGTAGTGTTACAAGTTTCCGTTAGCTAGTCAAAAACTGGCATTAATTTTACATTTCCTAAGAATGAGAACTTTCAAGTCATAAAAATACGAAACTCCTAGAGCCTGTAAAATAATCCACTTAATACAACTGATGACGTGCTAAATATTAAACTACTAGGTTCTGAATGTAAACCATTATCTTCCTGCTTTTAAAAAAACTAACCCAAGTTTTGC... | pathogenic | 27,289 |
Located at chromosome 1 position 244864292, the variant affecting gene HNRNPU (heterogeneous nuclear ribonucleoprotein U)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_54'] | ATACGAAACTCCTAGAGCCTGTAAAATAATCCACTTAATACAACTGATGACGTGCTAAATATTAAACTACTAGGTTCTGAATGTAAACCATTATCTTCCTGCTTTTAAAAAAACTAACCCAAGTTTTGCTGCACTTAAGCATTAAGACTTCTAAAAAAAAAAAAAAAAAAACCACCATCACCGCATTTCATAATTGGGGAGAAACAGCTTCACTTACAAGTATCAAGACAAACCACTGTGTCATCGAAGTGTTCATCTTCTTCTTCAACAGGTGGCTGAGGAGATTTGGCTCTGAAAGACAGAATTGTCTCCTGATACAG... | ATACGAAACTCCTAGAGCCTGTAAAATAATCCACTTAATACAACTGATGACGTGCTAAATATTAAACTACTAGGTTCTGAATGTAAACCATTATCTTCCTGCTTTTAAAAAAACTAACCCAAGTTTTGCTGCACTTAAGCATTAAGACTTCTAAAAAAAAAAAAAAAAAAACCACCATCACCGCATTTCATAATTGGGGAGAAACAGCTTCACTTACAAGTATCAAGACAAACCACTGTGTCATCGAAGTGTTCATCTTCTTCTTCAACAGGTGGCTGAGGAGATTTGGCTCTGAAAGACAGAATTGTCTCCTGATACAG... | pathogenic | 27,296 |
Variant in NLRP3 (NLR family pyrin domain containing 3), chromosome 1, position 247419159—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TGATACACCTGTGATAAATGCTGGGGAAGTGTGTCTTTTAGTCATCTATTTTGTTGTCTTTGTCTTTGTCTGACTGAAACAAGTGATGGAAGACATGGTCTCATATCTCTGGTCAAAATCCTGGCTCTGTTCCTTCCTGGTTCTAAACCCCTCGGCAGGCTTCCTAGTCCCCCTAAGACTCAGTTTATGCATCTATAAAATGGGGCTAGGAATAGGTGCACCTCATAGAGCTCTGTGCAGGTTAGATGGGGAAAAACATCAGTGAGTGCCTAGCCTGTGGAAAGCTCTAAATTAATGTGAATTATAATGATAACAATTGC... | TGATACACCTGTGATAAATGCTGGGGAAGTGTGTCTTTTAGTCATCTATTTTGTTGTCTTTGTCTTTGTCTGACTGAAACAAGTGATGGAAGACATGGTCTCATATCTCTGGTCAAAATCCTGGCTCTGTTCCTTCCTGGTTCTAAACCCCTCGGCAGGCTTCCTAGTCCCCCTAAGACTCAGTTTATGCATCTATAAAATGGGGCTAGGAATAGGTGCACCTCATAGAGCTCTGTGCAGGTTAGATGGGGAAAAACATCAGTGAGTGCCTAGCCTGTGGAAAGCTCTAAATTAATGTGAATTATAATGATAACAATTGC... | benign | 27,341 |
Clinical classification of chromosome 2, position 1414438, gene TPO (thyroid peroxidase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Deficiency_of_iodide_peroxidase'] | CCCTCCTAGTGACCATTCTCAGGGTGCGTGGGGGGATTATATCACTGTTGGCTGATCTCCTCCCTGCTCTTCAGAGCTTGTCTAACTCATTTGTTATCTTCACCCATTTGAGGGGTGAGTGATGAGGATTGAGGGGAGAATGTTAAAGGCAAATCATCACATTCTTGGGCTTCAGAACATCTTCTAACAAAGATTAATGTTCTGAAGCCTTTGCATCGTGTTTTAGCATTTGGTTTCAAATTACCTAGAGGAAGCATCAGTCACATTTGGAGAAGGGAAAGAAAAGGAGAAAGATGAAGATGATTTTCACAAACTAGAAA... | CCCTCCTAGTGACCATTCTCAGGGTGCGTGGGGGGATTATATCACTGTTGGCTGATCTCCTCCCTGCTCTTCAGAGCTTGTCTAACTCATTTGTTATCTTCACCCATTTGAGGGGTGAGTGATGAGGATTGAGGGGAGAATGTTAAAGGCAAATCATCACATTCTTGGGCTTCAGAACATCTTCTAACAAAGATTAATGTTCTGAAGCCTTTGCATCGTGTTTTAGCATTTGGTTTCAAATTACCTAGAGGAAGCATCAGTCACATTTGGAGAAGGGAAAGAAAAGGAGAAAGATGAAGATGATTTTCACAAACTAGAAA... | pathogenic | 27,499 |
Does the chromosome 2 mutation at position 1436288 within gene TPO (thyroid peroxidase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Deficiency_of_iodide_peroxidase'] | AGAGCAAGTAAGCGAAATGTCTTTTTAATTAATTTATCAAGAATTTTTTCTCTGCAGCGCCATGAGCTACTTGGCCTCTGAGTTCTTCCTTCTAACTAGCTATAGATCAATTTGGTGCTGGTTACTTAGCTTTTAGAATAAGACAAACTTGGCTAAATCAGTATTGACCAGAATTCTCAAATCCTAAACTTAACAGTGAAGTTTAATTAATTTCATAGCAAGCTAAGATTCACCACTTTGAAATGTCCTTTCTTTCAAACCATATGGCTGAACGATGTTTCTAAGAACTCTCGGTCCACTGTCCTGTTACGGGACACTGT... | AGAGCAAGTAAGCGAAATGTCTTTTTAATTAATTTATCAAGAATTTTTTCTCTGCAGCGCCATGAGCTACTTGGCCTCTGAGTTCTTCCTTCTAACTAGCTATAGATCAATTTGGTGCTGGTTACTTAGCTTTTAGAATAAGACAAACTTGGCTAAATCAGTATTGACCAGAATTCTCAAATCCTAAACTTAACAGTGAAGTTTAATTAATTTCATAGCAAGCTAAGATTCACCACTTTGAAATGTCCTTTCTTTCAAACCATATGGCTGAACGATGTTTCTAAGAACTCTCGGTCCACTGTCCTGTTACGGGACACTGT... | pathogenic | 27,506 |
Evaluate the clinical significance of the mutation at chromosome 2, position 1456132 in gene TPO (thyroid peroxidase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Deficiency_of_iodide_peroxidase'] | TGAAAATCACTTCAGTGTTTTCAGATAAATTCCTTTATCCATCATGTGGGCTAGGTACATCCCAAGATGATTATGAGTTCAGCAATCCACTTGTTGATGTAAAGATGACTGCTTTACTCCCAGAGGTGAATTTATTTGCTGGACACTCATAGCCTAGTAGAATCTACTGGTCTATTTGGTCAAAAAATGGGTCATTTTGCCTGTAATTTAACTACTCATTTCAATGAATAAGCCAGCCTGTTTGCTCTTGTGCCATGTTCAGTGATGAAATTATCTAGAAATACATCAGTGGATGTTCTGTTTAGCCCAAAGAGCGCAGG... | TGAAAATCACTTCAGTGTTTTCAGATAAATTCCTTTATCCATCATGTGGGCTAGGTACATCCCAAGATGATTATGAGTTCAGCAATCCACTTGTTGATGTAAAGATGACTGCTTTACTCCCAGAGGTGAATTTATTTGCTGGACACTCATAGCCTAGTAGAATCTACTGGTCTATTTGGTCAAAAAATGGGTCATTTTGCCTGTAATTTAACTACTCATTTCAATGAATAAGCCAGCCTGTTTGCTCTTGTGCCATGTTCAGTGATGAAATTATCTAGAAATACATCAGTGGATGTTCTGTTTAGCCCAAAGAGCGCAGG... | pathogenic | 27,512 |
Does the variant on chromosome 2 at location 1477447 affecting gene TPO (thyroid peroxidase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Deficiency_of_iodide_peroxidase', 'TPO-related_disorder'] | CTCTCAGTGGAAGCGCTTTTTTTTTTTCTTTTTTCTTTTTTTTGAGACGGAATCTCGCTCTGTCACCCAGGCAGGAGTACAGTGGCCCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTAAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAATTGCTGGGCGCCCACCTCAGCCTCCCAAAGTGC... | CTCTCAGTGGAAGCGCTTTTTTTTTTTCTTTTTTCTTTTTTTTGAGACGGAATCTCGCTCTGTCACCCAGGCAGGAGTACAGTGGCCCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTAAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAATTGCTGGGCGCCCACCTCAGCCTCCCAAAGTGC... | pathogenic | 27,522 |
Mutation found at chromosome 2 position 1495977, gene TPO (thyroid peroxidase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CGATGTCTGGCTGGGAGGCTTAGCTGAAAACTTCCTCCCCAGGGCTCGGACAGGGCCCCTGTTTGCCTGTCTCATTGGGAAGCAGATGAAGGCTCTGCGGGACGGTGACTGGTACGTTCCTATCCAGAGCGTCTTCCTTCACGTTCTGCACAGAGGCAGGTGGTCTGCGTTGGTTCTGAAGCCAGCCAGACCTGCATTCACATTCCGGCTCCACCATTCAACTCTTACGTAAGCCTGGTCAGGTTGTTTCTCCCACCCACAGCTTCTTTAACCTAGAACAGTGTTTTTATAACAATGAAGCAACTACGAAGCACGTAGCA... | CGATGTCTGGCTGGGAGGCTTAGCTGAAAACTTCCTCCCCAGGGCTCGGACAGGGCCCCTGTTTGCCTGTCTCATTGGGAAGCAGATGAAGGCTCTGCGGGACGGTGACTGGTACGTTCCTATCCAGAGCGTCTTCCTTCACGTTCTGCACAGAGGCAGGTGGTCTGCGTTGGTTCTGAAGCCAGCCAGACCTGCATTCACATTCCGGCTCCACCATTCAACTCTTACGTAAGCCTGGTCAGGTTGTTTCTCCCACCCACAGCTTCTTTAACCTAGAACAGTGTTTTTATAACAATGAAGCAACTACGAAGCACGTAGCA... | benign | 27,546 |
The genetic variant at chromosome 2, position 1496121, affecting gene TPO (thyroid peroxidase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Deficiency_of_iodide_peroxidase'] | TCTGCACAGAGGCAGGTGGTCTGCGTTGGTTCTGAAGCCAGCCAGACCTGCATTCACATTCCGGCTCCACCATTCAACTCTTACGTAAGCCTGGTCAGGTTGTTTCTCCCACCCACAGCTTCTTTAACCTAGAACAGTGTTTTTATAACAATGAAGCAACTACGAAGCACGTAGCACTTAGAATGGGAGCTAGCACTGATTTTTCCTAGATCCAACCACACGAGCAAGCAGGCACCTAACTAAACAAATTGTGACACAATCGTGACAGCCCGGAGACTGCATCCCATCCCTCACGTCCCATGACAATGCCCGGGAAAGCG... | TCTGCACAGAGGCAGGTGGTCTGCGTTGGTTCTGAAGCCAGCCAGACCTGCATTCACATTCCGGCTCCACCATTCAACTCTTACGTAAGCCTGGTCAGGTTGTTTCTCCCACCCACAGCTTCTTTAACCTAGAACAGTGTTTTTATAACAATGAAGCAACTACGAAGCACGTAGCACTTAGAATGGGAGCTAGCACTGATTTTTCCTAGATCCAACCACACGAGCAAGCAGGCACCTAACTAAACAAATTGTGACACAATCGTGACAGCCCGGAGACTGCATCCCATCCCTCACGTCCCATGACAATGCCCGGGAAAGCG... | pathogenic | 27,549 |
Benign or pathogenic: chromosome 2, position 1496646, gene TPO (thyroid peroxidase) variant? Disease(s) if pathogenic? | pathogenic; ['Deficiency_of_iodide_peroxidase'] | CTGGAGGGAGTCAGAGGCAGATCCTGTTCCCATCTGACTCTGAGTGCATGCCCCCCGTAGAAGCAGGTGCGCAGGATACCAGTGTTAGGATTTTGGAACAACACAGACAAAAGCAATAGGAAAATGTTTTCTTTTGCTTTTAAATACATCCCTACCTATCCAATTCTCTCTCTATTTTTGGTAGTCACTGTGCCGAGGTCAGATTTTTGTTGTAAAGGATCTGTGTTCTTCCCAGAGAGTGCACCTGCCACACGCTGGGGCTCCTGTCCTTTCCCCAGTGTGACTTTTATCTCTAATTTCTGAGATGCAGCCTTTCAAAG... | CTGGAGGGAGTCAGAGGCAGATCCTGTTCCCATCTGACTCTGAGTGCATGCCCCCCGTAGAAGCAGGTGCGCAGGATACCAGTGTTAGGATTTTGGAACAACACAGACAAAAGCAATAGGAAAATGTTTTCTTTTGCTTTTAAATACATCCCTACCTATCCAATTCTCTCTCTATTTTTGGTAGTCACTGTGCCGAGGTCAGATTTTTGTTGTAAAGGATCTGTGTTCTTCCCAGAGAGTGCACCTGCCACACGCTGGGGCTCCTGTCCTTTCCCCAGTGTGACTTTTATCTCTAATTTCTGAGATGCAGCCTTTCAAAG... | pathogenic | 27,553 |
Evaluate if the mutation on chromosome 2 at position 1496688 in TPO (thyroid peroxidase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Deficiency_of_iodide_peroxidase'] | AGTGCATGCCCCCCGTAGAAGCAGGTGCGCAGGATACCAGTGTTAGGATTTTGGAACAACACAGACAAAAGCAATAGGAAAATGTTTTCTTTTGCTTTTAAATACATCCCTACCTATCCAATTCTCTCTCTATTTTTGGTAGTCACTGTGCCGAGGTCAGATTTTTGTTGTAAAGGATCTGTGTTCTTCCCAGAGAGTGCACCTGCCACACGCTGGGGCTCCTGTCCTTTCCCCAGTGTGACTTTTATCTCTAATTTCTGAGATGCAGCCTTTCAAAGAGCTACGAACACCTGGGTAGAAATCACCAGGAGAACTTGTCT... | AGTGCATGCCCCCCGTAGAAGCAGGTGCGCAGGATACCAGTGTTAGGATTTTGGAACAACACAGACAAAAGCAATAGGAAAATGTTTTCTTTTGCTTTTAAATACATCCCTACCTATCCAATTCTCTCTCTATTTTTGGTAGTCACTGTGCCGAGGTCAGATTTTTGTTGTAAAGGATCTGTGTTCTTCCCAGAGAGTGCACCTGCCACACGCTGGGGCTCCTGTCCTTTCCCCAGTGTGACTTTTATCTCTAATTTCTGAGATGCAGCCTTTCAAAGAGCTACGAACACCTGGGTAGAAATCACCAGGAGAACTTGTCT... | pathogenic | 27,555 |
Classify the chromosome 2 variant at position 1503975 affecting gene TPO (thyroid peroxidase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Deficiency_of_iodide_peroxidase'] | GGGAACTCATAAGGATGAGTCTGAACTGCAGGGATGGGGTGAGGAGAGGGGGCAGAAGCTGCTCCAAGGGAACTCCCCGAGAGGGATGCAGGGATGTGTTGGCAGCTGCCATTCCCATTCTGAGGACCCCATTGCACATCCCAGGGGATGGAGAGAAAATGGGCTTGTAGCGTTCATGGGTGATGACTTTGATTTTTCACACGATCATGATGGAAACACTCCCTACCCCAGAGGCGGCTGCAGATGCCTTCACACAGCTCTGGTGCTCCACAGCTCTGCATAACGGGATGCAGGAGGGGCTGGTTCCAGGGGCAGCTTTA... | GGGAACTCATAAGGATGAGTCTGAACTGCAGGGATGGGGTGAGGAGAGGGGGCAGAAGCTGCTCCAAGGGAACTCCCCGAGAGGGATGCAGGGATGTGTTGGCAGCTGCCATTCCCATTCTGAGGACCCCATTGCACATCCCAGGGGATGGAGAGAAAATGGGCTTGTAGCGTTCATGGGTGATGACTTTGATTTTTCACACGATCATGATGGAAACACTCCCTACCCCAGAGGCGGCTGCAGATGCCTTCACACAGCTCTGGTGCTCCACAGCTCTGCATAACGGGATGCAGGAGGGGCTGGTTCCAGGGGCAGCTTTA... | pathogenic | 27,559 |
A genetic alteration at chromosome 2, position 1503975, in gene TPO (thyroid peroxidase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Deficiency_of_iodide_peroxidase'] | GGGAACTCATAAGGATGAGTCTGAACTGCAGGGATGGGGTGAGGAGAGGGGGCAGAAGCTGCTCCAAGGGAACTCCCCGAGAGGGATGCAGGGATGTGTTGGCAGCTGCCATTCCCATTCTGAGGACCCCATTGCACATCCCAGGGGATGGAGAGAAAATGGGCTTGTAGCGTTCATGGGTGATGACTTTGATTTTTCACACGATCATGATGGAAACACTCCCTACCCCAGAGGCGGCTGCAGATGCCTTCACACAGCTCTGGTGCTCCACAGCTCTGCATAACGGGATGCAGGAGGGGCTGGTTCCAGGGGCAGCTTTA... | GGGAACTCATAAGGATGAGTCTGAACTGCAGGGATGGGGTGAGGAGAGGGGGCAGAAGCTGCTCCAAGGGAACTCCCCGAGAGGGATGCAGGGATGTGTTGGCAGCTGCCATTCCCATTCTGAGGACCCCATTGCACATCCCAGGGGATGGAGAGAAAATGGGCTTGTAGCGTTCATGGGTGATGACTTTGATTTTTCACACGATCATGATGGAAACACTCCCTACCCCAGAGGCGGCTGCAGATGCCTTCACACAGCTCTGGTGCTCCACAGCTCTGCATAACGGGATGCAGGAGGGGCTGGTTCCAGGGGCAGCTTTA... | pathogenic | 27,560 |
Determine if the mutation at chromosome 2, position 1503982 in gene TPO (thyroid peroxidase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Deficiency_of_iodide_peroxidase'] | CATAAGGATGAGTCTGAACTGCAGGGATGGGGTGAGGAGAGGGGGCAGAAGCTGCTCCAAGGGAACTCCCCGAGAGGGATGCAGGGATGTGTTGGCAGCTGCCATTCCCATTCTGAGGACCCCATTGCACATCCCAGGGGATGGAGAGAAAATGGGCTTGTAGCGTTCATGGGTGATGACTTTGATTTTTCACACGATCATGATGGAAACACTCCCTACCCCAGAGGCGGCTGCAGATGCCTTCACACAGCTCTGGTGCTCCACAGCTCTGCATAACGGGATGCAGGAGGGGCTGGTTCCAGGGGCAGCTTTAGCCAAGA... | CATAAGGATGAGTCTGAACTGCAGGGATGGGGTGAGGAGAGGGGGCAGAAGCTGCTCCAAGGGAACTCCCCGAGAGGGATGCAGGGATGTGTTGGCAGCTGCCATTCCCATTCTGAGGACCCCATTGCACATCCCAGGGGATGGAGAGAAAATGGGCTTGTAGCGTTCATGGGTGATGACTTTGATTTTTCACACGATCATGATGGAAACACTCCCTACCCCAGAGGCGGCTGCAGATGCCTTCACACAGCTCTGGTGCTCCACAGCTCTGCATAACGGGATGCAGGAGGGGCTGGTTCCAGGGGCAGCTTTAGCCAAGA... | pathogenic | 27,561 |
Does the variant on chromosome 2 at location 1638965 affecting gene PXDN (peroxidasin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Anterior_segment_dysgenesis', 'Anterior_segment_dysgenesis_7'] | GGTGCAGGGAAATGACCACAGACGGCACACACCCTGTGCTGTCAGCAGCTGCAAAATCACAAGGAACATCCACATTTCTCAGACCCAGCGCTGCCACCCAGGGAGCTGCCCGTTCATCCTGAGGGTGGAAGGAAGTCCAGCATTGTGGACAGAATCAGCAACATGGGAGGGCATAGGGCGTTGGTATTTGCCGACACAGGTGGGGTGGCTGGTCCCCCTCTGCCTCTGCTATGCTGTCCAGGGTCACCTGTGCACAAGGCCTGCCCTGAATGACCTTGGGGTTCACAGACCCCCCTCCCCAGTGGACCCCCCTAGGGCAC... | GGTGCAGGGAAATGACCACAGACGGCACACACCCTGTGCTGTCAGCAGCTGCAAAATCACAAGGAACATCCACATTTCTCAGACCCAGCGCTGCCACCCAGGGAGCTGCCCGTTCATCCTGAGGGTGGAAGGAAGTCCAGCATTGTGGACAGAATCAGCAACATGGGAGGGCATAGGGCGTTGGTATTTGCCGACACAGGTGGGGTGGCTGGTCCCCCTCTGCCTCTGCTATGCTGTCCAGGGTCACCTGTGCACAAGGCCTGCCCTGAATGACCTTGGGGTTCACAGACCCCCCTCCCCAGTGGACCCCCCTAGGGCAC... | pathogenic | 27,591 |
Variant in PXDN (peroxidasin), chromosome 2, position 1649210—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Anterior_segment_dysgenesis_7'] | GGGATTATAGGCATGAGCCACCGGGCCTGGCTGCAATTATTTCTATTTCCTTAAAATACAAAAAGCAAATAAACTGGTAGAAATAACATGAAAAAAAAGGTAGTGAGTAAAAGATGTGAATATCTAGCAAAAAGGAGAGCCGCTGAATGTCTCCACTTTGGGGAATTCTGAGTTAATGAGAACCCCACTGTGGCACCGAGTCCTGGGAAGGGGACTGGCTATGGACCCGGCAGCCCTGATCCTACCCCAGTCCTAGGCCTGGGTAGTGCTGTGGTCACTGCTTTGCCTGTAAAACTTTGCCATTTTTTCCACCCCACAGG... | GGGATTATAGGCATGAGCCACCGGGCCTGGCTGCAATTATTTCTATTTCCTTAAAATACAAAAAGCAAATAAACTGGTAGAAATAACATGAAAAAAAAGGTAGTGAGTAAAAGATGTGAATATCTAGCAAAAAGGAGAGCCGCTGAATGTCTCCACTTTGGGGAATTCTGAGTTAATGAGAACCCCACTGTGGCACCGAGTCCTGGGAAGGGGACTGGCTATGGACCCGGCAGCCCTGATCCTACCCCAGTCCTAGGCCTGGGTAGTGCTGTGGTCACTGCTTTGCCTGTAAAACTTTGCCATTTTTTCCACCCCACAGG... | pathogenic | 27,611 |
Is chromosome 2, position 1892089, gene MYT1L (myelin transcription factor 1 like) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Intellectual_disability', 'Intellectual_disability,_autosomal_dominant_39'] | AATAAACTAAAATTTACCTTGTAATACAATTTTTTTTTTTTTTTTGAGGGACAGAGTCTTGCTCTGGTATCCAGGCTGGAGTGCAGTGGCACGACCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGACTGCAGGTTTGCACCACCATGCCCAACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCAGCCGCCTCAGCCCCTCAAAGTGCTGAGATTACAGGTGTGAGCCA... | AATAAACTAAAATTTACCTTGTAATACAATTTTTTTTTTTTTTTTGAGGGACAGAGTCTTGCTCTGGTATCCAGGCTGGAGTGCAGTGGCACGACCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGACTGCAGGTTTGCACCACCATGCCCAACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCAGCCGCCTCAGCCCCTCAAAGTGCTGAGATTACAGGTGTGAGCCA... | pathogenic | 27,689 |
Clinically, how would you classify the variant at chromosome 2, position 1910249, gene MYT1L (myelin transcription factor 1 like): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Intellectual_disability,_autosomal_dominant_39', 'Neurodevelopmental_disorder'] | ACAGGAGCAGCACAGAAGGCTTCAGGCCGGAACATCGGAGTGGAGGCTGTGTTTGAACAAAGTGGTATTCACAATTACATGCATGCCTGGTCTCCAGCTGCCATGAGCTTCTCCCTGAAATCCCCACTCTGTGCTGGCCCCCGAGAGCAGGGCAGCCTGTAGGTGGGCAGTCGTAGGTGGTCAGTGCAGCCCCCGGGAGCAGGGAAGCCCAAAGGTGGGCAGTTGTAGGTGGGCAGAGCAGTCCCCGGGAGCAGGGCAGCCCGAAGGTGGGCAGTGCAGTCACCTGGTGACTCCAAGAAAGGCCAGATACTAGAGTTCTT... | ACAGGAGCAGCACAGAAGGCTTCAGGCCGGAACATCGGAGTGGAGGCTGTGTTTGAACAAAGTGGTATTCACAATTACATGCATGCCTGGTCTCCAGCTGCCATGAGCTTCTCCCTGAAATCCCCACTCTGTGCTGGCCCCCGAGAGCAGGGCAGCCTGTAGGTGGGCAGTCGTAGGTGGTCAGTGCAGCCCCCGGGAGCAGGGAAGCCCAAAGGTGGGCAGTTGTAGGTGGGCAGAGCAGTCCCCGGGAGCAGGGCAGCCCGAAGGTGGGCAGTGCAGTCACCTGGTGACTCCAAGAAAGGCCAGATACTAGAGTTCTT... | pathogenic | 27,695 |
Considering the genetic mutation at chromosome 2, position 1923211, impacting MYT1L (myelin transcription factor 1 like): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Intellectual_disability,_autosomal_dominant_39'] | AACTCAGGATTCGTAGTGAATAGAATGTAATAAAAAACATAAAAGGATCTTTTGGGTGCTAACATAGAGGGATTTAATGAACTGCCAATTTCATGTTTTAAATTGCTTCTTACTGAGTTCTAAAAGAATATTGTGATGGAGATATCCACAAAGTCAAGGTTATGCATGAGGCTGAATTAGAACCTGCCTCATATTGAAAGTGGACACCGTCTTCTTTACAAACATGAAGACAATCATTCAGGTTGGAGATACATATACACATGATCTACTTACATACATATAGTATACATATATATGTAAAGATAGCTAAATACATTGAC... | AACTCAGGATTCGTAGTGAATAGAATGTAATAAAAAACATAAAAGGATCTTTTGGGTGCTAACATAGAGGGATTTAATGAACTGCCAATTTCATGTTTTAAATTGCTTCTTACTGAGTTCTAAAAGAATATTGTGATGGAGATATCCACAAAGTCAAGGTTATGCATGAGGCTGAATTAGAACCTGCCTCATATTGAAAGTGGACACCGTCTTCTTTACAAACATGAAGACAATCATTCAGGTTGGAGATACATATACACATGATCTACTTACATACATATAGTATACATATATATGTAAAGATAGCTAAATACATTGAC... | pathogenic | 27,724 |
Evaluate this variant at chromosome 2, position 1942998, gene MYT1L (myelin transcription factor 1 like): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | ACATCCACTGGGTGCCCATTTACTTGCATTTTTCTGGCAAAAATGTCTTTAATTCTAGTTTGCTTTCCAGCGTTTAAAAACAATTATATCCTAAGTGTTCAAGTGAGAATAGACAAACCCTATGCAGTCACATTCTAAAGCTATTTCAATAAGGCTTCTGACTACCTTTCAAAGTACATCACTTTTTATTTTTAAAGAAATATTTACATTTGACCATAAATAAACTAAAATTGAATTTTTAATTCTAGAAAATGAAGAGCAAAACTTAAAACCTGGTTAAGGCCCCTGGTGTAAACGATACCTATTTACAGATTTCCTAT... | ACATCCACTGGGTGCCCATTTACTTGCATTTTTCTGGCAAAAATGTCTTTAATTCTAGTTTGCTTTCCAGCGTTTAAAAACAATTATATCCTAAGTGTTCAAGTGAGAATAGACAAACCCTATGCAGTCACATTCTAAAGCTATTTCAATAAGGCTTCTGACTACCTTTCAAAGTACATCACTTTTTATTTTTAAAGAAATATTTACATTTGACCATAAATAAACTAAAATTGAATTTTTAATTCTAGAAAATGAAGAGCAAAACTTAAAACCTGGTTAAGGCCCCTGGTGTAAACGATACCTATTTACAGATTTCCTAT... | benign | 27,727 |
Determine if the mutation at chromosome 2, position 3387767 in gene TRAPPC12 (trafficking protein particle complex subunit 12) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Early-onset_progressive_encephalopathy-hearing_loss-pons_hypoplasia-brain_atrophy_syndrome'] | CTCTCATCATTAGCTTATATCGAAATCAATTCTTATTTCTAAAATAAAATACGCAGACCACGCTAGTGCCTTCAAGTCCTGCTGGGAGACTTCAGAGGGGGCACTGCCTCATGCTGCCTGTTTGCTCCTTGTGCCCGGCCTCTATCCCTGCACAGGAAGGACCCGAAGGAGCAGCCTTACCATGCACAGGGGGCTCCCCCTTTGGGGTTCTAGGGCAATTTGTTCTTCGGGCTCCCGGTGAAACATGGCAGGAAAAAAAACGTTTTACTCCTTTTCATTGGATTTTTTATTCATTTATACTTAACAATTATTGGATGAAT... | CTCTCATCATTAGCTTATATCGAAATCAATTCTTATTTCTAAAATAAAATACGCAGACCACGCTAGTGCCTTCAAGTCCTGCTGGGAGACTTCAGAGGGGGCACTGCCTCATGCTGCCTGTTTGCTCCTTGTGCCCGGCCTCTATCCCTGCACAGGAAGGACCCGAAGGAGCAGCCTTACCATGCACAGGGGGCTCCCCCTTTGGGGTTCTAGGGCAATTTGTTCTTCGGGCTCCCGGTGAAACATGGCAGGAAAAAAAACGTTTTACTCCTTTTCATTGGATTTTTTATTCATTTATACTTAACAATTATTGGATGAAT... | pathogenic | 27,748 |
Mutation found at chromosome 2 position 3637570, gene COLEC11 (collectin subfamily member 11): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases'] | GGACGGACGAGGAAGTGGTGTCCCCGTTGCCCCTTTTCTATTCCCTTCCCTCGCACGCACTGCAGTTGCTGGGCCGCTGTCCCGACTTACCGGCAAACCCTGAGCTCTGATCCCTGCAGCCAGCGCCCTGCACAGCTGGCAACACACAGCGCCTGGTGTGCGAAGCAGAGTCGCCTCCGTCCTGGCTGTCCAGCTCCAGCCTAGGTGCCATTAGGATCTCCCTCTGCCTCCCTCGTCCCTGCATCGTCCCCCAGGCTGGATGTGGCCCCCAGCTGCCAGCATCAGGAGAGCAGCCTGGGCCTCAGAGCAGCAGAGTGTGG... | GGACGGACGAGGAAGTGGTGTCCCCGTTGCCCCTTTTCTATTCCCTTCCCTCGCACGCACTGCAGTTGCTGGGCCGCTGTCCCGACTTACCGGCAAACCCTGAGCTCTGATCCCTGCAGCCAGCGCCCTGCACAGCTGGCAACACACAGCGCCTGGTGTGCGAAGCAGAGTCGCCTCCGTCCTGGCTGTCCAGCTCCAGCCTAGGTGCCATTAGGATCTCCCTCTGCCTCCCTCGTCCCTGCATCGTCCCCCAGGCTGGATGTGGCCCCCAGCTGCCAGCATCAGGAGAGCAGCCTGGGCCTCAGAGCAGCAGAGTGTGG... | pathogenic | 27,851 |
Mutation found at chromosome 2 position 5693393, gene SOX11 (SRY-box transcription factor 11): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGG... | GGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGG... | benign | 27,880 |
The genetic variant at chromosome 2, position 5693393, affecting gene SOX11 (SRY-box transcription factor 11): benign or pathogenic? Disease name(s) if pathogenic? | benign | GGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGG... | GGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGG... | benign | 27,881 |
Clinically, how would you classify the variant at chromosome 2, position 5693752, gene SOX11 (SRY-box transcription factor 11): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCAC... | CTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCAC... | benign | 27,888 |
Chromosome 2, position 8731618, gene KIDINS220 (kinase D interacting substrate 220): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Spastic_paraplegia,_intellectual_disability,_nystagmus,_and_obesity'] | CACAGCACTTATATAGATATATATATATATTTTACCCTTGCTTTGTTACATGTTTCCAAATTTTTTTTTAAAAAGTATTTCCTTTCTTATGATCCTTCCCCAGAACTAACATGCTGACTTAGGAACAGATGAAGTAGATAAAGTCTATCCTAGTATAGAGAGCAATGATTTAGTTTTACCTAATTAAATATTTCCTTGTCATTTATCAATTGTCACTGACCTTTTTGATGTAATTATTTCCTCATTCACTCATCTATAAATATTTATTAGTACCTATTATTACCCATGTCTCCCTGATTTTCCAGAAAAAGAATTCATGT... | CACAGCACTTATATAGATATATATATATATTTTACCCTTGCTTTGTTACATGTTTCCAAATTTTTTTTTAAAAAGTATTTCCTTTCTTATGATCCTTCCCCAGAACTAACATGCTGACTTAGGAACAGATGAAGTAGATAAAGTCTATCCTAGTATAGAGAGCAATGATTTAGTTTTACCTAATTAAATATTTCCTTGTCATTTATCAATTGTCACTGACCTTTTTGATGTAATTATTTCCTCATTCACTCATCTATAAATATTTATTAGTACCTATTATTACCCATGTCTCCCTGATTTTCCAGAAAAAGAATTCATGT... | pathogenic | 27,907 |
Evaluate this variant at chromosome 2, position 8750151, gene KIDINS220 (kinase D interacting substrate 220): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['KIDINS220-related_disorder'] | ATGCAAATGACAAAACAAAAGAAAAAAAAGCCTCACTCATATTCCATAAGATGCTAAACTCAAACTTAAGAAATATTACTTACATTTTTATATTGGTCATTTCATATAAGCTTTTTTCAGAAAAATGAGCAACTAAAGTTTTGCACTTTACAGTTTGACACGAGTTTCTCTCTATATTTAATATGTTTACAAGCTTACCATCTGTCAGGTTCTAAGCAGTTTAACCAATATTAACTCATAATCTTTTTAAAAGAAGCAGACTGGAATCTTAATACTATTCCTTACCAATAAAAAAAGATTAGCCTAAATAAGACCAAAAA... | ATGCAAATGACAAAACAAAAGAAAAAAAAGCCTCACTCATATTCCATAAGATGCTAAACTCAAACTTAAGAAATATTACTTACATTTTTATATTGGTCATTTCATATAAGCTTTTTTCAGAAAAATGAGCAACTAAAGTTTTGCACTTTACAGTTTGACACGAGTTTCTCTCTATATTTAATATGTTTACAAGCTTACCATCTGTCAGGTTCTAAGCAGTTTAACCAATATTAACTCATAATCTTTTTAAAAGAAGCAGACTGGAATCTTAATACTATTCCTTACCAATAAAAAAAGATTAGCCTAAATAAGACCAAAAA... | pathogenic | 27,925 |
Assess the variant on chromosome 2, position 8751645, impacting KIDINS220 (kinase D interacting substrate 220): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GACTCTAAAAATGGGCTACAGTGCTATTATTTGGAAAAACATCTGAGTTCCACAGCAGTACTTTCCCATTATTATCTCACATTTAAAAGACAAAGGTATATTAAGTATAGGTTTACTAAACTACTATAGGAATTTAAGTTTATCATTGTTTTAAATGCCAATATAAACTATTATACAAGATATAACAAATAGAACATTTGTTTATAAACAAACAAAAAACAGATTCCTTTGAAGCTAGGACAGTCACTGCTGACCCTGTGGAGTCCATTTACTTATCAAGAAACTAAATAAAAGAAAAAAAAATCTAATATTCAGACTCT... | GACTCTAAAAATGGGCTACAGTGCTATTATTTGGAAAAACATCTGAGTTCCACAGCAGTACTTTCCCATTATTATCTCACATTTAAAAGACAAAGGTATATTAAGTATAGGTTTACTAAACTACTATAGGAATTTAAGTTTATCATTGTTTTAAATGCCAATATAAACTATTATACAAGATATAACAAATAGAACATTTGTTTATAAACAAACAAAAAACAGATTCCTTTGAAGCTAGGACAGTCACTGCTGACCCTGTGGAGTCCATTTACTTATCAAGAAACTAAATAAAAGAAAAAAAAATCTAATATTCAGACTCT... | benign | 27,931 |
Mutation at chromosome 2, position 9510221, within ADAM17: benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AACAGTATGCAATATGGTAGCCACCAACCATATGTGGCTACTTAAATTTTGTTCCTAGTCACATATTTTACAGTTTCTATTACAGAAATATTCAAGCATCTATGAAGTAGACAGGATGGTATCATGAATGCCCCCGTGCCCCTCACCAGCTTCAACAATAATCAACTTATGACTTCACAGCTCCTCTACATCCGCGCTACTTTTCCTCTGCTCCCACACTGCTGTTTTTGTTTGTTGGCTTATTAACAACTTTATTAAGACATATTTCACATATCACAAAATTGATCCATTTCAAGTATATAACTCAGTGATTTCTAATA... | AACAGTATGCAATATGGTAGCCACCAACCATATGTGGCTACTTAAATTTTGTTCCTAGTCACATATTTTACAGTTTCTATTACAGAAATATTCAAGCATCTATGAAGTAGACAGGATGGTATCATGAATGCCCCCGTGCCCCTCACCAGCTTCAACAATAATCAACTTATGACTTCACAGCTCCTCTACATCCGCGCTACTTTTCCTCTGCTCCCACACTGCTGTTTTTGTTTGTTGGCTTATTAACAACTTTATTAAGACATATTTCACATATCACAAAATTGATCCATTTCAAGTATATAACTCAGTGATTTCTAATA... | benign | 27,990 |
Does the chromosome 2 mutation at position 10043621 within gene KLF11 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGGTGGATACCTTCGATTCGCTCGTTCACCTACGTGGACTTATTAAACAGCCAGGCTCCCTGGCCTTGGGAGAGTCCTTCTGGTGGGGAGACAGATGATAAATAACTGAAGTAATGGAAAAGGGGCAGTTCAAGAAAAGTGTTGTGGAGGAAGAAAACAAGAAAGCCCGCCAGAAGGGGACTGGAGGTCGGCCCCGAGGGTGTGTCCGCTAGAGGGGGCCTCTCCAGGTGGACTGCGGGTGAGAGTAAAGGGGGCATGTGGGGGAAAAGCATTCTAGGGAACAGCAAGTGCGAGGACCTGGAGACGGCAGAGGGGCTGGT... | TGGTGGATACCTTCGATTCGCTCGTTCACCTACGTGGACTTATTAAACAGCCAGGCTCCCTGGCCTTGGGAGAGTCCTTCTGGTGGGGAGACAGATGATAAATAACTGAAGTAATGGAAAAGGGGCAGTTCAAGAAAAGTGTTGTGGAGGAAGAAAACAAGAAAGCCCGCCAGAAGGGGACTGGAGGTCGGCCCCGAGGGTGTGTCCGCTAGAGGGGGCCTCTCCAGGTGGACTGCGGGTGAGAGTAAAGGGGGCATGTGGGGGAAAAGCATTCTAGGGAACAGCAAGTGCGAGGACCTGGAGACGGCAGAGGGGCTGGT... | benign | 28,009 |
Is the genetic change at chromosome 2, position 10043621, within gene KLF11 benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGGTGGATACCTTCGATTCGCTCGTTCACCTACGTGGACTTATTAAACAGCCAGGCTCCCTGGCCTTGGGAGAGTCCTTCTGGTGGGGAGACAGATGATAAATAACTGAAGTAATGGAAAAGGGGCAGTTCAAGAAAAGTGTTGTGGAGGAAGAAAACAAGAAAGCCCGCCAGAAGGGGACTGGAGGTCGGCCCCGAGGGTGTGTCCGCTAGAGGGGGCCTCTCCAGGTGGACTGCGGGTGAGAGTAAAGGGGGCATGTGGGGGAAAAGCATTCTAGGGAACAGCAAGTGCGAGGACCTGGAGACGGCAGAGGGGCTGGT... | TGGTGGATACCTTCGATTCGCTCGTTCACCTACGTGGACTTATTAAACAGCCAGGCTCCCTGGCCTTGGGAGAGTCCTTCTGGTGGGGAGACAGATGATAAATAACTGAAGTAATGGAAAAGGGGCAGTTCAAGAAAAGTGTTGTGGAGGAAGAAAACAAGAAAGCCCGCCAGAAGGGGACTGGAGGTCGGCCCCGAGGGTGTGTCCGCTAGAGGGGGCCTCTCCAGGTGGACTGCGGGTGAGAGTAAAGGGGGCATGTGGGGGAAAAGCATTCTAGGGAACAGCAAGTGCGAGGACCTGGAGACGGCAGAGGGGCTGGT... | benign | 28,010 |
Determine whether the variant at chromosome 2, position 10052724, in gene KLF11 (KLF transcription factor 11) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TCCAGCCTGGTGACAGAGTGAGACTCCGTCTCAAAAAATAAAAATAAATAACTGTAAGAGTTCTGAAGAATCCCCTTGTGCCATTTTGTAAACTTGGAATTTTCATGAGAAGTAGAAACTGGGCAAGTTTACCTTGGATAAGATTGCTTTTTATATATATTTCTGCCAACCTGAAAAATATTTAAATTGGAGTAAGGTAGAGTGAATAGATGCTACCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCG... | TCCAGCCTGGTGACAGAGTGAGACTCCGTCTCAAAAAATAAAAATAAATAACTGTAAGAGTTCTGAAGAATCCCCTTGTGCCATTTTGTAAACTTGGAATTTTCATGAGAAGTAGAAACTGGGCAAGTTTACCTTGGATAAGATTGCTTTTTATATATATTTCTGCCAACCTGAAAAATATTTAAATTGGAGTAAGGTAGAGTGAATAGATGCTACCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCG... | benign | 28,033 |
Variant on chromosome 2, at position 10052724, affecting KLF11 (KLF transcription factor 11): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCCAGCCTGGTGACAGAGTGAGACTCCGTCTCAAAAAATAAAAATAAATAACTGTAAGAGTTCTGAAGAATCCCCTTGTGCCATTTTGTAAACTTGGAATTTTCATGAGAAGTAGAAACTGGGCAAGTTTACCTTGGATAAGATTGCTTTTTATATATATTTCTGCCAACCTGAAAAATATTTAAATTGGAGTAAGGTAGAGTGAATAGATGCTACCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCG... | TCCAGCCTGGTGACAGAGTGAGACTCCGTCTCAAAAAATAAAAATAAATAACTGTAAGAGTTCTGAAGAATCCCCTTGTGCCATTTTGTAAACTTGGAATTTTCATGAGAAGTAGAAACTGGGCAAGTTTACCTTGGATAAGATTGCTTTTTATATATATTTCTGCCAACCTGAAAAATATTTAAATTGGAGTAAGGTAGAGTGAATAGATGCTACCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCG... | benign | 28,034 |
Gene mutation in NBAS (NBAS subunit of NRZ tethering complex) at chromosome 2, position 15190386—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Infantile_liver_failure_syndrome_2', 'Short_stature-optic_atrophy-Pelger-HuC+t_anomaly_syndrome'] | GTCACACTATCCTCCCTCTCTTCCACCCCCACTCCTTTTTTGGTGATTTATTTATTCAATTGGATTGTCTAAAAGGAAAAAATATTCAAAAGTACTTCTGAGCACCTGTTTGTAAAGTATCCCATCACACATTCTCCAGAATATTTGATTTATGCCCTGGTTATCTCTTAGGCAGAGGAGACATGAATGATAGGAGGGGAGGGGGTGAGCAGACTGGGAAATGCTTTGTTCTGATTCTAATGATTTAATAAAGCAGTTTTATAAGACTCAGGTTAGTAATTTACAAATTCCATTTCATATGTGGCTACAAAAGAATACAA... | GTCACACTATCCTCCCTCTCTTCCACCCCCACTCCTTTTTTGGTGATTTATTTATTCAATTGGATTGTCTAAAAGGAAAAAATATTCAAAAGTACTTCTGAGCACCTGTTTGTAAAGTATCCCATCACACATTCTCCAGAATATTTGATTTATGCCCTGGTTATCTCTTAGGCAGAGGAGACATGAATGATAGGAGGGGAGGGGGTGAGCAGACTGGGAAATGCTTTGTTCTGATTCTAATGATTTAATAAAGCAGTTTTATAAGACTCAGGTTAGTAATTTACAAATTCCATTTCATATGTGGCTACAAAAGAATACAA... | pathogenic | 28,161 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 15218888, gene NBAS (NBAS subunit of NRZ tethering complex): what disease(s) if pathogenic? | pathogenic; ['Infantile_liver_failure_syndrome_2', 'Short_stature-optic_atrophy-Pelger-HuC+t_anomaly_syndrome'] | GGCTCTAACCAGAGAAATCAGCCTCATCATCCTGGCGAGAAGGTGAAACTGACCGAGGTCGAGAATTTAAAAAGTGAAGGTATGAGGAAAGTACATAACTGTAGTCACATCCATTTGCTTCAGGACCAGAGTCAGAACCTAAAGTTCCACATAGCAAAACTAATGTGACCTAATTTAGGGTTTTCCCCAGGGATGCCACATGAACCTTCATGTTTGCTGAAAACAAGCACATCTCTAACTTCTATGCCCTGTACCGGCAATAGAGCTTGTGGCCTATGCCTTCGTGTCCCTAGCCTGCTCTTTAAAAAAACACTGCAAGT... | GGCTCTAACCAGAGAAATCAGCCTCATCATCCTGGCGAGAAGGTGAAACTGACCGAGGTCGAGAATTTAAAAAGTGAAGGTATGAGGAAAGTACATAACTGTAGTCACATCCATTTGCTTCAGGACCAGAGTCAGAACCTAAAGTTCCACATAGCAAAACTAATGTGACCTAATTTAGGGTTTTCCCCAGGGATGCCACATGAACCTTCATGTTTGCTGAAAACAAGCACATCTCTAACTTCTATGCCCTGTACCGGCAATAGAGCTTGTGGCCTATGCCTTCGTGTCCCTAGCCTGCTCTTTAAAAAAACACTGCAAGT... | pathogenic | 28,166 |
A mutation at chromosome position 15238526 on chromosome 2 in gene NBAS (NBAS subunit of NRZ tethering complex): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Infantile_liver_failure_syndrome_2', 'Short_stature-optic_atrophy-Pelger-HuC+t_anomaly_syndrome'] | GGTAGAGGCTGCAGTGAGTGAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACAATTCTTGTTCCACAGAGAGTAATGACAATTCTCTGGGTTTTAATATAGTATATTAAAAAATAATATAAGTTTAAAATAATTTTAGATGTGTTTATTTAAAAATAAGTACTTAAAAATTTATAAGTATAGATCACTTTTCCTTGAAGATTGTAATTTTACTCTACTTCTCCTAATTATGAACTGTAGTACTGTAAATGTTAGTAGGATAAAATCAAGATTGGTAAAGCCAATTTGTTTC... | GGTAGAGGCTGCAGTGAGTGAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACAATTCTTGTTCCACAGAGAGTAATGACAATTCTCTGGGTTTTAATATAGTATATTAAAAAATAATATAAGTTTAAAATAATTTTAGATGTGTTTATTTAAAAATAAGTACTTAAAAATTTATAAGTATAGATCACTTTTCCTTGAAGATTGTAATTTTACTCTACTTCTCCTAATTATGAACTGTAGTACTGTAAATGTTAGTAGGATAAAATCAAGATTGGTAAAGCCAATTTGTTTC... | pathogenic | 28,173 |
Located at chromosome 2 position 15275660, the variant affecting gene NBAS (NBAS subunit of NRZ tethering complex)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'NBAS-related_disorder'] | TCCCTCACAGATTACTCAGCCACAACCTCTGTCTCAAGGAAGCAGAAGTCTAAGAGAGATACCTGAAGCTAAACCACACAGCTGATAAGTGATAGGTTCAGAGTTCAAAGCCAGGTTTATATGTCTCCAAACACATTCTTTTCAAATACATTATGCTCTTGTCTTTTAAAATCACCCTTATTGGCCGGGTGCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAAAA... | TCCCTCACAGATTACTCAGCCACAACCTCTGTCTCAAGGAAGCAGAAGTCTAAGAGAGATACCTGAAGCTAAACCACACAGCTGATAAGTGATAGGTTCAGAGTTCAAAGCCAGGTTTATATGTCTCCAAACACATTCTTTTCAAATACATTATGCTCTTGTCTTTTAAAATCACCCTTATTGGCCGGGTGCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAAAA... | pathogenic | 28,180 |
Regarding the variant found on chromosome 2 at position 15277063 in gene NBAS (NBAS subunit of NRZ tethering complex): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Infantile_liver_failure_syndrome_2', 'Short_stature-optic_atrophy-Pelger-HuC+t_anomaly_syndrome'] | TCAGGTAATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCGCTATGCCCGGCCAATAACTTTTTTAAAGACTCAGGCTAACCCAAGCTAAGTTGTTAGCCTGGTTTCCGAATGCAGGTAATCTGGGCTGGGCACTGGAGCTCCTTTACATTTGTCAACTGGAAAGAACAGAATGGCATATTTACTATAAAGTGACATGAGAACTGTAACATGTACTAAGTATACGTGTAAATGAGAATAGTCATCTCTATTTTAGCATATTTGTACATCTACAATAGAGAAAAAAAATTTCCTAATTAAAACACC... | TCAGGTAATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCGCTATGCCCGGCCAATAACTTTTTTAAAGACTCAGGCTAACCCAAGCTAAGTTGTTAGCCTGGTTTCCGAATGCAGGTAATCTGGGCTGGGCACTGGAGCTCCTTTACATTTGTCAACTGGAAAGAACAGAATGGCATATTTACTATAAAGTGACATGAGAACTGTAACATGTACTAAGTATACGTGTAAATGAGAATAGTCATCTCTATTTTAGCATATTTGTACATCTACAATAGAGAAAAAAAATTTCCTAATTAAAACACC... | pathogenic | 28,184 |
A mutation at chromosome position 15292724 on chromosome 2 in gene NBAS (NBAS subunit of NRZ tethering complex): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins'] | TTCTGATTCCTTTTCTTAAAAGTCAGAAGGTTGGCTTAGGTTACTTTCAAATTGGACACTAAATGACGTTATGAAATTATGAACCTCCAGAAGGACAGAGGAGAAGAGAAAAACAATTCCATATTTCTCTTCTTAATTGAGACCAGCTATAGGTTGTTCCTGCTATTTTTCTTTTGATCTCTCTATGCCATGCCTCGTTCTAAAGATAATTTTGGGTGTAGAAGAAGAATTTGGGGTATAAGAAAGAAGTTCAGGCTAATATAAAATTATTACAAAGAACCAAGATGAGTTTGCCACCTTCTCAAGGATTTAAATGATAA... | TTCTGATTCCTTTTCTTAAAAGTCAGAAGGTTGGCTTAGGTTACTTTCAAATTGGACACTAAATGACGTTATGAAATTATGAACCTCCAGAAGGACAGAGGAGAAGAGAAAAACAATTCCATATTTCTCTTCTTAATTGAGACCAGCTATAGGTTGTTCCTGCTATTTTTCTTTTGATCTCTCTATGCCATGCCTCGTTCTAAAGATAATTTTGGGTGTAGAAGAAGAATTTGGGGTATAAGAAAGAAGTTCAGGCTAATATAAAATTATTACAAAGAACCAAGATGAGTTTGCCACCTTCTCAAGGATTTAAATGATAA... | pathogenic | 28,192 |
A mutation at chromosome position 15327811 on chromosome 2 in gene NBAS (NBAS subunit of NRZ tethering complex): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins'] | ACTTTTCCTCTGCATTCACAACTTGGCTAACTATTTGGGGCAAGATGCCTAGCTTTCAGTCTTTCTCAGCTTTCAACACACCTTCCTCACTAAGCTTAATCATTTCTAGCTTTTCCTTTAGAGATATGCAACTCTTCCTTTCACTTGAATATTTATAGGCCATTATAGGGTTATTAACTTGCCTCATTTCAATATTGTTGTGTCTCAGAGAACAGAGAGACCCAAGAAGAAGGAGAGAGATGGAAAATGGCTGGTCAGTGGAGCAGTCAAAACACACACAACATTTATCAATTAAGTTTACATCTTATATTGGTGCAGTT... | ACTTTTCCTCTGCATTCACAACTTGGCTAACTATTTGGGGCAAGATGCCTAGCTTTCAGTCTTTCTCAGCTTTCAACACACCTTCCTCACTAAGCTTAATCATTTCTAGCTTTTCCTTTAGAGATATGCAACTCTTCCTTTCACTTGAATATTTATAGGCCATTATAGGGTTATTAACTTGCCTCATTTCAATATTGTTGTGTCTCAGAGAACAGAGAGACCCAAGAAGAAGGAGAGAGATGGAAAATGGCTGGTCAGTGGAGCAGTCAAAACACACACAACATTTATCAATTAAGTTTACATCTTATATTGGTGCAGTT... | pathogenic | 28,197 |
Does the chromosome 2 mutation at position 15328289 within gene NBAS (NBAS subunit of NRZ tethering complex) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins'] | AGACTTGCTTGACATAGCGTTGCCATAAACCTTCAATTTTTTATAAAGCACTGTATCTGCAAAGTGCAATACAGCACAGAACAATAAAACAAGGTATGCTCACACTTTATAGACTAAATAATAAAAATATCGTATAAACCAATGTTTGCGAATGTTTTGGTTATTACTTCAGTCCGTTATTACGCCAAATAATAGGTCCACATCCAACCTAGTATTTTCTTAAGGTCTCAGATTCTATCTGTACAAACTACCTTGATAACCATTCATATTTAATCCATGAGCAACTGATGTAAGACAATAAAAAGAAAAGCAAGAAGTAA... | AGACTTGCTTGACATAGCGTTGCCATAAACCTTCAATTTTTTATAAAGCACTGTATCTGCAAAGTGCAATACAGCACAGAACAATAAAACAAGGTATGCTCACACTTTATAGACTAAATAATAAAAATATCGTATAAACCAATGTTTGCGAATGTTTTGGTTATTACTTCAGTCCGTTATTACGCCAAATAATAGGTCCACATCCAACCTAGTATTTTCTTAAGGTCTCAGATTCTATCTGTACAAACTACCTTGATAACCATTCATATTTAATCCATGAGCAACTGATGTAAGACAATAAAAAGAAAAGCAAGAAGTAA... | pathogenic | 28,201 |
Does the variant on chromosome 2 at location 15330612 affecting gene NBAS (NBAS subunit of NRZ tethering complex) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Infantile_liver_failure_syndrome_2', 'Short_stature-optic_atrophy-Pelger-HuC+t_anomaly_syndrome'] | TTTTCCTGGTCACTTTGACATCAATGAATTAGAAACACTGAAGCAATCGATGTTGTTCATATGGTGAGTTTTTATACTACAGTCAGAATAACCACTCGAAAACGTCATCTTGTCTGTGTTGCTGCCCTCCTTAAAAATCCTTTAGTAGCTCTGAACAAGGCAAACAACCAACAGCCGAACAACTAAACTATGTGGAACATCATTTGAGGTTGTTAAATGTTAACTAACATTAAAGGCTAACTTTCCACCTCAACCAAACTGCCTGCTTTATGCATCCTATCCGCTTCTATGTCTTTCTCTCCCACTGTGAGGGTCCTGCC... | TTTTCCTGGTCACTTTGACATCAATGAATTAGAAACACTGAAGCAATCGATGTTGTTCATATGGTGAGTTTTTATACTACAGTCAGAATAACCACTCGAAAACGTCATCTTGTCTGTGTTGCTGCCCTCCTTAAAAATCCTTTAGTAGCTCTGAACAAGGCAAACAACCAACAGCCGAACAACTAAACTATGTGGAACATCATTTGAGGTTGTTAAATGTTAACTAACATTAAAGGCTAACTTTCCACCTCAACCAAACTGCCTGCTTTATGCATCCTATCCGCTTCTATGTCTTTCTCTCCCACTGTGAGGGTCCTGCC... | pathogenic | 28,207 |
Clinical classification of chromosome 2, position 15356391, gene NBAS (NBAS subunit of NRZ tethering complex): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Infantile_liver_failure_syndrome_2', 'Short_stature-optic_atrophy-Pelger-HuC+t_anomaly_syndrome'] | TAAAATACATTTTTATTCTTATTTGAAGGAATTCCAGCCTTAGGCCTATTTGTCTAAGTACAAAACTTGTAGTACAGAATAATTTTTTTCTAAATATGTGAAGTAAAAATTAATTCAGCTATTACCCTTACCAGAATAAAATCATTATAAAGCTCTCCATATGAACAATTTAGATCAGTACATTTTCACAGACAGCCATAGTTATTCTAAATTTAATGTTGCAAAATCACTCGGTTAATATTATGGAACACAGCTCATTTATGAAAACAATTTGCTAATGCTGAAGTTGTAATATATTGAATCATTTTTGAAGAGTTTTA... | TAAAATACATTTTTATTCTTATTTGAAGGAATTCCAGCCTTAGGCCTATTTGTCTAAGTACAAAACTTGTAGTACAGAATAATTTTTTTCTAAATATGTGAAGTAAAAATTAATTCAGCTATTACCCTTACCAGAATAAAATCATTATAAAGCTCTCCATATGAACAATTTAGATCAGTACATTTTCACAGACAGCCATAGTTATTCTAAATTTAATGTTGCAAAATCACTCGGTTAATATTATGGAACACAGCTCATTTATGAAAACAATTTGCTAATGCTGAAGTTGTAATATATTGAATCATTTTTGAAGAGTTTTA... | pathogenic | 28,214 |
Regarding the variant found on chromosome 2 at position 15374621 in gene NBAS (NBAS subunit of NRZ tethering complex): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins'] | CTGTAAGATAAACACAACAAAAAGTATACAAAGGCAATATTCCATCTTCACATCCAGAAGGTTTTCTGACAGTCATTCTAATAGGAAACTCCAAATCAATATATCAAGCTGGAAAGCTGTCAAGACATGAAAGCAAATGTCTTTCTTAAAATACTCCTCAGTCAGAAAATTCTCAGAAGCCACAGCAGGGCAGCGGTTTTGGTTGCAGGTATTCAAACCCAGCAGCTGATATACACATATTACCAGCAAAAAATCCTGCTAATTGATCAGCACAGAAAATCAGGGCTTAATGTAACATTTCAAAATCCAGTAGCACTTGG... | CTGTAAGATAAACACAACAAAAAGTATACAAAGGCAATATTCCATCTTCACATCCAGAAGGTTTTCTGACAGTCATTCTAATAGGAAACTCCAAATCAATATATCAAGCTGGAAAGCTGTCAAGACATGAAAGCAAATGTCTTTCTTAAAATACTCCTCAGTCAGAAAATTCTCAGAAGCCACAGCAGGGCAGCGGTTTTGGTTGCAGGTATTCAAACCCAGCAGCTGATATACACATATTACCAGCAAAAAATCCTGCTAATTGATCAGCACAGAAAATCAGGGCTTAATGTAACATTTCAAAATCCAGTAGCACTTGG... | pathogenic | 28,220 |
Regarding the variant at chromosome 2 and position 15402288, affecting gene NBAS (NBAS subunit of NRZ tethering complex): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Infantile_liver_failure', 'Infantile_liver_failure_syndrome_2', 'Short_stature-optic_atrophy-Pelger-HuC+t_anomaly_syndrome'] | AAAAAAAAAACATGAAAGGAATAGAGAGATCATTAAATAGTTTTCACGACTGCAAGTAGTTCATGAGGGTGATGGAAAAAAAGAAAACAACAGAAAAGGAAATTATTCAATCCAGGAAAAACAGAGAGTTGTATTAAAAGGAAAATAAATCACACCTAGTTCCGCAGTATAAACAATATTTACGTAATCATAATGATGAAAACACTGGAGAATGGTAGGAGAAGTGGATATGGGAGAAGGGAAAGGACTTCCATAAAAGGAAGTCAAAAATGATCTAAAATTGCAAAATCAAAAAATAACAACACGAGCATAACATTTTA... | AAAAAAAAAACATGAAAGGAATAGAGAGATCATTAAATAGTTTTCACGACTGCAAGTAGTTCATGAGGGTGATGGAAAAAAAGAAAACAACAGAAAAGGAAATTATTCAATCCAGGAAAAACAGAGAGTTGTATTAAAAGGAAAATAAATCACACCTAGTTCCGCAGTATAAACAATATTTACGTAATCATAATGATGAAAACACTGGAGAATGGTAGGAGAAGTGGATATGGGAGAAGGGAAAGGACTTCCATAAAAGGAAGTCAAAAATGATCTAAAATTGCAAAATCAAAAAATAACAACACGAGCATAACATTTTA... | pathogenic | 28,234 |
Is the genetic mutation found on chromosome 2 at position 15417698, within the gene NBAS (NBAS subunit of NRZ tethering complex), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Infantile_liver_failure_syndrome_2', 'Short_stature-optic_atrophy-Pelger-HuC+t_anomaly_syndrome'] | GTTTCTCACAACGATGAAGAAAGGGAACCATCCACTGGTAGGCACTTGTCACATATTTATCCTCAGAACACTGAAAGTACAATCAAGCAAAACAGACAAACAAGAATGAAGTTAAACTAAATGCCTTATTATATCAGACAGCGAGTTCTAAAGCTTACAGGTCCTCAGACTGATGTTAAACAGTGCAAACCCAACACTCTAAAACACACAGTCCAGTTCACCACTCACATGTGGATTGACAGGTAGCAGGAAAATGAATCACCTGCTACTGGGGCTAGTAGAGCTGACAGCAACAATATCACTATGGCTCATCTCTTTAC... | GTTTCTCACAACGATGAAGAAAGGGAACCATCCACTGGTAGGCACTTGTCACATATTTATCCTCAGAACACTGAAAGTACAATCAAGCAAAACAGACAAACAAGAATGAAGTTAAACTAAATGCCTTATTATATCAGACAGCGAGTTCTAAAGCTTACAGGTCCTCAGACTGATGTTAAACAGTGCAAACCCAACACTCTAAAACACACAGTCCAGTTCACCACTCACATGTGGATTGACAGGTAGCAGGAAAATGAATCACCTGCTACTGGGGCTAGTAGAGCTGACAGCAACAATATCACTATGGCTCATCTCTTTAC... | pathogenic | 28,242 |
Is the genetic change at chromosome 2, position 15534602, within gene NBAS (NBAS subunit of NRZ tethering complex) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Infantile_liver_failure_syndrome_2', 'NBAS-related_disorder', 'Short_stature-optic_atrophy-Pelger-HuC+t_anomaly_syndrome'] | ACAAAGTGAAAATTCTTTGTGCATACTCGTGGTAGAGTAAGAAAACTAAATATCCATCTTCCACAAAGGGAAGTAAATAAACATTGTGTAAAATTGGAATCAAGAAGTACAATGTAAGCTTTTTATTTAAATGTATGAAAACAATCAAAAGAATCAATTAAAATAGCTAAAAGTGGTTACCTTTGGAAAGCAAGAAGTTGGGTGGAGGAGTCAGTTTTTAAAACTAAACACTTGAAATTATGTGCAAATACAACTCATAAAAATTAAATGTAAATATAAGAAAAAATTTTTAAGAAAAGTCACATCTTGGTAAAAAAAAA... | ACAAAGTGAAAATTCTTTGTGCATACTCGTGGTAGAGTAAGAAAACTAAATATCCATCTTCCACAAAGGGAAGTAAATAAACATTGTGTAAAATTGGAATCAAGAAGTACAATGTAAGCTTTTTATTTAAATGTATGAAAACAATCAAAAGAATCAATTAAAATAGCTAAAAGTGGTTACCTTTGGAAAGCAAGAAGTTGGGTGGAGGAGTCAGTTTTTAAAACTAAACACTTGAAATTATGTGCAAATACAACTCATAAAAATTAAATGTAAATATAAGAAAAAATTTTTAAGAAAAGTCACATCTTGGTAAAAAAAAA... | pathogenic | 28,290 |
Mutation found at chromosome 2 position 15539234, gene NBAS (NBAS subunit of NRZ tethering complex): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins'] | GAGAATCAACAGACGCAGGAAAAATTCTTTGCCCTCCCCTTAACTGCCTAAAAACAAGGCAAAAATTTATCTTTGTGACAGTGCTCCTCAGTACCAGGAGGAGGAGATGGACTCATCCCTGGAAACCAGAAGTCATACCAAGATGAGTCTGTGTAAACAGACCTTATTAAAATCCCTTTCTTCCATTAATTTGTCCCATGCATTTCTTAGTCACTTTCCCACAATTTACCACCTCAAAAAGCCAAAATTCCCTTTCCTTTGTCTAGTCACATCTCAACAATTTATATCCCTCTATTAAAATGGTATATAAGGCTGGATGG... | GAGAATCAACAGACGCAGGAAAAATTCTTTGCCCTCCCCTTAACTGCCTAAAAACAAGGCAAAAATTTATCTTTGTGACAGTGCTCCTCAGTACCAGGAGGAGGAGATGGACTCATCCCTGGAAACCAGAAGTCATACCAAGATGAGTCTGTGTAAACAGACCTTATTAAAATCCCTTTCTTCCATTAATTTGTCCCATGCATTTCTTAGTCACTTTCCCACAATTTACCACCTCAAAAAGCCAAAATTCCCTTTCCTTTGTCTAGTCACATCTCAACAATTTATATCCCTCTATTAAAATGGTATATAAGGCTGGATGG... | pathogenic | 28,295 |
Gene NBAS (NBAS subunit of NRZ tethering complex) variant at chromosome 2, position 15554040—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TAGGTCACCATATTTAAATCAACAACCTATTTTAAATCTGTGATCCTGAAATATATACCAAGTAGAATAATTATTATAAAATATGTTTAAAAATGAAAACTGGTAAACCTTCTAGAAAATAATTTAATAACAATTATCCAAAACCTTCATGTCTGTAGCATTTGACCTAACAATTCTATTTCTATAAAGTTATCCCCAGGAAATAATTACAGATACATACAGATATCAAAAAAACTGGTATGGTCTCATTTATAAAGGAGAAAAATAATACCCAGTATAAAGAGATTAAACTTTGCTATGTGCACCCAATGAAATATTAT... | TAGGTCACCATATTTAAATCAACAACCTATTTTAAATCTGTGATCCTGAAATATATACCAAGTAGAATAATTATTATAAAATATGTTTAAAAATGAAAACTGGTAAACCTTCTAGAAAATAATTTAATAACAATTATCCAAAACCTTCATGTCTGTAGCATTTGACCTAACAATTCTATTTCTATAAAGTTATCCCCAGGAAATAATTACAGATACATACAGATATCAAAAAAACTGGTATGGTCTCATTTATAAAGGAGAAAAATAATACCCAGTATAAAGAGATTAAACTTTGCTATGTGCACCCAATGAAATATTAT... | benign | 28,304 |
Evaluate if the mutation on chromosome 2 at position 15558621 in NBAS (NBAS subunit of NRZ tethering complex) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | ATAGTAACTAAGGGAACAAAAACTACCCTAAGTCTACTGAGATATCTTGTCAGATTCTACCTAAATGTTTGAAATGTCTCATACTGAGTTTGCCTGAATGTCAGCAACTTTATCATGATCTAGAATTCAATTATGAAAACAAATCATATATAGAACAATATTGTTTATATTTGATGTTCATACTGTTTCTCTGAAGAACCGAAGACTCACCTGTACCAGATGTATTGGCGTAAAAATAATAAACGATCTGTAATCAAAAGAAATGGCAAAGCCAAATATAAATCAGCTGTTAAGAATCATTTTCAAATTAGATTTATAGA... | ATAGTAACTAAGGGAACAAAAACTACCCTAAGTCTACTGAGATATCTTGTCAGATTCTACCTAAATGTTTGAAATGTCTCATACTGAGTTTGCCTGAATGTCAGCAACTTTATCATGATCTAGAATTCAATTATGAAAACAAATCATATATAGAACAATATTGTTTATATTTGATGTTCATACTGTTTCTCTGAAGAACCGAAGACTCACCTGTACCAGATGTATTGGCGTAAAAATAATAAACGATCTGTAATCAAAAGAAATGGCAAAGCCAAATATAAATCAGCTGTTAAGAATCATTTTCAAATTAGATTTATAGA... | pathogenic | 28,309 |
A genetic alteration at chromosome 2, position 15942191, in gene MYCN—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Feingold_syndrome_type_1'] | CATCGGTCTCCCCTCCCCAACACACACCCCCGGAGCCCTCCGTAATTTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCC... | CATCGGTCTCCCCTCCCCAACACACACCCCCGGAGCCCTCCGTAATTTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCC... | pathogenic | 28,320 |
Is the genetic change at chromosome 2, position 15942191, within gene MYCN benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Feingold_syndrome_type_1'] | CATCGGTCTCCCCTCCCCAACACACACCCCCGGAGCCCTCCGTAATTTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCC... | CATCGGTCTCCCCTCCCCAACACACACCCCCGGAGCCCTCCGTAATTTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCC... | pathogenic | 28,321 |
Chromosome 2, position 15942503, gene MYCN (MYCN proto-oncogene, bHLH transcription factor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases'] | CCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGTCAGATTTTTCAGTTAATAATATCCCCCGAGCTTCAAAGCGCAGGCTGTGACAGTCATCTGTCTGGACGCGCTGGGTGGATGCGGGGGGCTCCTGGGAACTGTGTTGGAGCCGAGCAAGCGCTAGCCAGGCGCAAGCGCGCACAGACTGTAGCCATCCGAGGACACCCCCGCCCCCCCGGCCCACCCGGAGACACCCGCGCAGAATCGCCTCCGGATCCCCTGCAGTCGGCGGGAGGTAAGGAGCAGGGCTTGCAAACCGCCCGGCG... | CCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGTCAGATTTTTCAGTTAATAATATCCCCCGAGCTTCAAAGCGCAGGCTGTGACAGTCATCTGTCTGGACGCGCTGGGTGGATGCGGGGGGCTCCTGGGAACTGTGTTGGAGCCGAGCAAGCGCTAGCCAGGCGCAAGCGCGCACAGACTGTAGCCATCCGAGGACACCCCCGCCCCCCCGGCCCACCCGGAGACACCCGCGCAGAATCGCCTCCGGATCCCCTGCAGTCGGCGGGAGGTAAGGAGCAGGGCTTGCAAACCGCCCGGCG... | pathogenic | 28,325 |
Chromosome 2, position 15942684, gene MYCN (MYCN proto-oncogene, bHLH transcription factor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Feingold_syndrome_type_1'] | GGCGCAAGCGCGCACAGACTGTAGCCATCCGAGGACACCCCCGCCCCCCCGGCCCACCCGGAGACACCCGCGCAGAATCGCCTCCGGATCCCCTGCAGTCGGCGGGAGGTAAGGAGCAGGGCTTGCAAACCGCCCGGCGCCCAGGGAAGCGACGAGCGCCGGGGCAAGGCAAGCCCTGGACGGGATTGCGACGTGCGCACCGGGCGCCCTAATATGCCCGGGGGACTGTTTCTGCTTCCGAAACAAAACCATCTCTGGGTTTTCCCAGAAAAGCCAGTTCCAGCCCCGAAGGCATCCTGGCTAGAGGAGACCCGCCCTAA... | GGCGCAAGCGCGCACAGACTGTAGCCATCCGAGGACACCCCCGCCCCCCCGGCCCACCCGGAGACACCCGCGCAGAATCGCCTCCGGATCCCCTGCAGTCGGCGGGAGGTAAGGAGCAGGGCTTGCAAACCGCCCGGCGCCCAGGGAAGCGACGAGCGCCGGGGCAAGGCAAGCCCTGGACGGGATTGCGACGTGCGCACCGGGCGCCCTAATATGCCCGGGGGACTGTTTCTGCTTCCGAAACAAAACCATCTCTGGGTTTTCCCAGAAAAGCCAGTTCCAGCCCCGAAGGCATCCTGGCTAGAGGAGACCCGCCCTAA... | pathogenic | 28,329 |
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