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 |
|---|---|---|---|---|---|
Variant at chromosome position 132897613, chromosome 9, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGA... | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGA... | benign | 152,679 |
Is the genetic mutation found on chromosome 9 at position 132897613, within the gene TSC1 (TSC complex subunit 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGA... | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGA... | benign | 152,680 |
Gene mutation in TSC1 (TSC complex subunit 1) at chromosome 9, position 132897613—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGA... | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGA... | benign | 152,681 |
Does the variant impacting TSC1 (TSC complex subunit 1) on chromosome 9, position 132897613, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGA... | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGA... | benign | 152,682 |
Benign or pathogenic: chromosome 9, position 132897613, gene TSC1 (TSC complex subunit 1) variant? Disease(s) if pathogenic? | benign | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGA... | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGA... | benign | 152,683 |
Is chromosome 9, position 132897613, gene TSC1 (TSC complex subunit 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGA... | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGA... | benign | 152,684 |
Variant on chromosome 9, at position 132897615, affecting TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACT... | GCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACT... | benign | 152,686 |
Is the genetic variant on chromosome 9, position 132900821, gene TSC1 (TSC complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Tuberous_sclerosis_1'] | TCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTA... | TCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTA... | pathogenic | 152,710 |
Does the variant impacting TSC1 (TSC complex subunit 1) on chromosome 9, position 132900827, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cortical_tubers', 'Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Multiple_renal_cysts', 'Seizure', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTT... | GGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTT... | pathogenic | 152,712 |
The genetic variant at chromosome 9, position 132900829, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | ATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTG... | ATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTG... | pathogenic | 152,713 |
Mutation at chromosome 9, position 132901610, within TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Tuberous_sclerosis_1'] | GAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCT... | GAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCT... | pathogenic | 152,727 |
Regarding the variant found on chromosome 9 at position 132901705 in gene TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGA... | TTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGA... | benign | 152,745 |
Benign or pathogenic: chromosome 9, position 132903713, gene TSC1 (TSC complex subunit 1) variant? Disease(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAA... | TCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAA... | pathogenic | 152,801 |
The mutation impacting TSC1 (TSC complex subunit 1) on chromosome 9 at position 132903746: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCA... | GTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCA... | pathogenic | 152,807 |
A mutation at chromosome position 132903752 on chromosome 9 in gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | CCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTT... | CCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTT... | pathogenic | 152,810 |
Variant chromosome 9, position 132903776, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease(s)? | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTG... | TGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTG... | pathogenic | 152,814 |
Variant at chromosome position 132904428, chromosome 9, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['TSC1-related_disorder', 'Tuberous_sclerosis_syndrome'] | ACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCT... | ACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCT... | pathogenic | 152,826 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 132905618, gene TSC1 (TSC complex subunit 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGT... | GCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGT... | pathogenic | 152,846 |
For chromosome 9, position 132905669, gene TSC1 (TSC complex subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Malignant_tumor_of_urinary_bladder', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | AGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTT... | AGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTT... | pathogenic | 152,855 |
Regarding the variant at chromosome 9 and position 132905672, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'TSC1-related_disorder', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCA... | TCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCA... | pathogenic | 152,856 |
Does the chromosome 9 mutation at position 132905686 within gene TSC1 (TSC complex subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | CCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGAC... | CCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGAC... | pathogenic | 152,860 |
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132905855—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lymphangiomyomatosis', 'Tuberous_sclerosis_1'] | AGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTG... | AGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTG... | pathogenic | 152,895 |
Evaluate this variant at chromosome 9, position 132905868, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGA... | GATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGA... | pathogenic | 152,899 |
Regarding the variant at chromosome 9 and position 132905875, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | AAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCT... | AAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCT... | pathogenic | 152,901 |
Chromosome 9, position 132905875, gene TSC1 (TSC complex subunit 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | AAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCT... | AAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCT... | pathogenic | 152,902 |
Regarding the variant found on chromosome 9 at position 132905880 in gene TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACT... | GAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACT... | pathogenic | 152,906 |
Chromosome 9, position 132905996, gene TSC1 (TSC complex subunit 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | ACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGAT... | ACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGAT... | pathogenic | 152,926 |
Is the genetic change at chromosome 9, position 132906734, within gene TSC1 (TSC complex subunit 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTC... | GTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTC... | pathogenic | 152,957 |
Considering the genetic mutation at chromosome 9, position 132906756, impacting TSC1 (TSC complex subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | AGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCT... | AGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCT... | pathogenic | 152,959 |
The genetic variant at chromosome 9, position 132906801, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_1'] | TCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCT... | TCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCT... | pathogenic | 152,962 |
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132907306—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_1'] | CCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCT... | CCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCT... | pathogenic | 152,975 |
Mutation found at chromosome 9 position 132907335, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Tuberous_sclerosis_1'] | GCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTC... | GCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTC... | pathogenic | 152,980 |
Variant in gene TSC1 (TSC complex subunit 1), located at chromosome 9 position 132907361: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCA... | TCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCA... | pathogenic | 152,984 |
Regarding the variant at chromosome 9 and position 132910562, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTT... | GTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTT... | benign | 152,994 |
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132910576—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | CTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTT... | CTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTT... | pathogenic | 152,995 |
Regarding the variant found on chromosome 9 at position 132910576 in gene TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | CTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTT... | CTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTT... | pathogenic | 152,996 |
Variant in gene TSC1 (TSC complex subunit 1), located at chromosome 9 position 132910596: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Tuberous_sclerosis_1'] | GCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTT... | GCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTT... | pathogenic | 153,002 |
Assess the variant on chromosome 9, position 132910632, impacting TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Tuberous_sclerosis_1'] | GGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTT... | GGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTT... | pathogenic | 153,013 |
A genetic variant at chromosome 9, position 132910641, affecting gene TSC1 (TSC complex subunit 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Tuberous_sclerosis_1'] | ATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTT... | ATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTT... | pathogenic | 153,017 |
Mutation at chromosome 9, position 132910670, within TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Tuberous_sclerosis_1'] | TTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCC... | TTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCC... | pathogenic | 153,021 |
A genetic alteration at chromosome 9, position 132911017, in gene TSC1 (TSC complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Tuberous_sclerosis_1'] | ATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAA... | ATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAA... | pathogenic | 153,027 |
Variant chromosome 9, position 132911466, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease(s)? | pathogenic; ['Tuberous_sclerosis_1'] | GTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACAC... | GTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACAC... | pathogenic | 153,040 |
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132911476—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Tuberous_sclerosis_1'] | GTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTC... | GTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTC... | pathogenic | 153,044 |
Chromosome 9, position 132911483, gene TSC1 (TSC complex subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Tuberous_sclerosis_1'] | AATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGG... | AATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGG... | pathogenic | 153,049 |
Clinical classification of chromosome 9, position 132911491, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATT... | GATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATT... | pathogenic | 153,052 |
Clinical classification of chromosome 9, position 132911492, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cortical_dysplasia', 'Hereditary_cancer-predisposing_syndrome', 'Renal_cortical_cysts', 'Renal_insufficiency', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | ATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTT... | ATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTT... | pathogenic | 153,053 |
Clinically, how would you classify the variant at chromosome 9, position 132911492, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | ATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTT... | ATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTT... | pathogenic | 153,054 |
Located at chromosome 9 position 132911516, the variant affecting gene TSC1 (TSC complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGC... | ATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGC... | benign | 153,061 |
Determine if the mutation at chromosome 9, position 132912292 in gene TSC1 (TSC complex subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGG... | TGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGG... | pathogenic | 153,079 |
Evaluate if the mutation on chromosome 9 at position 132912348 in TSC1 (TSC complex subunit 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_1'] | CCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAG... | CCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAG... | pathogenic | 153,093 |
A mutation at chromosome position 132912381 on chromosome 9 in gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGA... | TAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGA... | pathogenic | 153,097 |
Gene mutation in TSC1 (TSC complex subunit 1) at chromosome 9, position 132921368—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Tuberous_sclerosis_1'] | AGCACAAAACAACTAAAGAAAATATCATAGAACTTGAAGAGCTTCCAGCTTGAACAATGAGAATAGATTCATACCAACATACATCACTGGAAATTTCAGAATATTATGACAACAAAGAGAACTCCCTACCAGCTCCCCTAGAGAAAAACACAGCAAATACAGATGATCAGAAATTCTAAGAGCAACATTGGAAGCAGGGTGGCAATGGAATAATGCCTTCAAATTACTGAATGCCTTCAAATTACCGACTCTCAACCTGTAAGTCTACACCAGCCAAAACACTGCATCCTTCCTCAAAAAGCTCCTAGAGGCTATGTCCT... | AGCACAAAACAACTAAAGAAAATATCATAGAACTTGAAGAGCTTCCAGCTTGAACAATGAGAATAGATTCATACCAACATACATCACTGGAAATTTCAGAATATTATGACAACAAAGAGAACTCCCTACCAGCTCCCCTAGAGAAAAACACAGCAAATACAGATGATCAGAAATTCTAAGAGCAACATTGGAAGCAGGGTGGCAATGGAATAATGCCTTCAAATTACTGAATGCCTTCAAATTACCGACTCTCAACCTGTAAGTCTACACCAGCCAAAACACTGCATCCTTCCTCAAAAAGCTCCTAGAGGCTATGTCCT... | pathogenic | 153,124 |
Is the genetic variant on chromosome 9, position 132921833, gene TSC1 (TSC complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAG... | GCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAG... | pathogenic | 153,141 |
Located at chromosome 9 position 132921833, the variant affecting gene TSC1 (TSC complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAG... | GCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAG... | pathogenic | 153,142 |
A genetic variant at chromosome 9, position 132921894, affecting gene TSC1 (TSC complex subunit 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Tuberous_sclerosis_1'] | GACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAA... | GACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAA... | pathogenic | 153,152 |
Considering the variant on chromosome 9, location 132921955, involving gene TSC1 (TSC complex subunit 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1'] | ACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTG... | ACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTG... | pathogenic | 153,169 |
Regarding the variant at chromosome 9 and position 132921966, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAA... | TCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAA... | pathogenic | 153,170 |
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132923472—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGT... | GCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGT... | pathogenic | 153,197 |
Clinical significance of chromosome 9, position 132925677, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | CCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTA... | CCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTA... | pathogenic | 153,221 |
Located at chromosome 9 position 132925688, the variant affecting gene TSC1 (TSC complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Tuberous_sclerosis_1'] | CTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAA... | CTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAA... | pathogenic | 153,224 |
Chromosome 9, position 132925749, gene TSC1 (TSC complex subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAA... | GTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAA... | benign | 153,237 |
Benign or pathogenic: chromosome 9, position 132927264, gene TSC1 (TSC complex subunit 1) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1'] | CTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTC... | CTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTC... | pathogenic | 153,262 |
Variant in gene TSC1 (TSC complex subunit 1), located at chromosome 9 position 132928798: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Tuberous_sclerosis_1'] | CTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAAC... | CTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAAC... | pathogenic | 153,280 |
Determine if the mutation at chromosome 9, position 132928803 in gene TSC1 (TSC complex subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Isolated_focal_cortical_dysplasia_type_II'] | ACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGA... | ACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGA... | pathogenic | 153,282 |
Is the variant located on chromosome 9 at position 132944529, gene TSC1 (TSC complex subunit 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGTTTCATCTCACGAATGAAACCAGGCATGCACAGAAGGCATCATATTACACCACAACAGTAGCAGTATCAGTTTTTACTCTTAACCCAGTGAGGAAGAGGACAACTGAGTCACAGGACCTGAAGCACTCTAATTTTATGGAAACAAGAAGGCTGGTAGCCACCTGCTTTCTAACCAGGAATTTAGGAACGTACCAAGTGTTTATGACACCAGGAAATGCATGCAGCAGAGAAAGTTTACATCATCTGCCCTTCTAGGCACGTGATATAAGAGTGTTTTGGATAAGATATTAACTTTAGTAAGAGGATATTTTCCGTTTA... | AGTTTCATCTCACGAATGAAACCAGGCATGCACAGAAGGCATCATATTACACCACAACAGTAGCAGTATCAGTTTTTACTCTTAACCCAGTGAGGAAGAGGACAACTGAGTCACAGGACCTGAAGCACTCTAATTTTATGGAAACAAGAAGGCTGGTAGCCACCTGCTTTCTAACCAGGAATTTAGGAACGTACCAAGTGTTTATGACACCAGGAAATGCATGCAGCAGAGAAAGTTTACATCATCTGCCCTTCTAGGCACGTGATATAAGAGTGTTTTGGATAAGATATTAACTTTAGTAAGAGGATATTTTCCGTTTA... | benign | 153,302 |
Variant on chromosome 9, at position 133071270, affecting CEL (carboxyl ester lipase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_8'] | ACCGAGATTGCCCTAGCCCAGCACAGAGCCAATGCCAAGTGAGGATCTGGGCAGCGGGTGGCTCCTGGGGGCCTTCCTGGGGTGCTGCACCTTCCAGCCGAGGCCTCGCTGTGGGTGGCTCTCAGGTGTCTGGGTTGTCTGGGAAAGTGGTGCTTGAGTCCCCACCTGTGCCTGCCTGATCCACTTTGCTGAGGCCTGGCAAGACTTGAGGGCCTCTTTTTACCTCCCAGCCTACAGGGCTTTACAAACCCTATGATCCTCTGCCCTGCTCAGCCCTGCACCCCATGGTCCTTCCCACTGGAGAGTTCTTGAGCTACCTT... | ACCGAGATTGCCCTAGCCCAGCACAGAGCCAATGCCAAGTGAGGATCTGGGCAGCGGGTGGCTCCTGGGGGCCTTCCTGGGGTGCTGCACCTTCCAGCCGAGGCCTCGCTGTGGGTGGCTCTCAGGTGTCTGGGTTGTCTGGGAAAGTGGTGCTTGAGTCCCCACCTGTGCCTGCCTGATCCACTTTGCTGAGGCCTGGCAAGACTTGAGGGCCTCTTTTTACCTCCCAGCCTACAGGGCTTTACAAACCCTATGATCCTCTGCCCTGCTCAGCCCTGCACCCCATGGTCCTTCCCACTGGAGAGTTCTTGAGCTACCTT... | pathogenic | 153,370 |
Variant on chromosome 9, at position 133351945, affecting SURF1 (SURF1 cytochrome c oxidase assembly factor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | AGAGTGTTTTTCCAGCTACTCAGCTGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCT... | AGAGTGTTTTTCCAGCTACTCAGCTGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCT... | pathogenic | 153,397 |
Variant at chromosome 9, position 133351945, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Leigh_syndrome'] | AGAGTGTTTTTCCAGCTACTCAGCTGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCT... | AGAGTGTTTTTCCAGCTACTCAGCTGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCT... | pathogenic | 153,398 |
The mutation impacting SURF1 (SURF1 cytochrome c oxidase assembly factor) on chromosome 9 at position 133351969: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Abnormal_pyramidal_sign', 'Cerebellar_ataxia', 'Charcot-Marie-Tooth_disease_type_4K', 'Dysarthria', 'Inborn_genetic_diseases', 'Leigh_syndrome', 'Leigh_syndrome_due_to_mitochondrial_complex_IV_deficiency', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1', 'Muscle_weakness', 'SURF1-related_disorder'] | TGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGG... | TGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGG... | pathogenic | 153,399 |
Mutation at chromosome 9, position 133352069, within SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGC... | CCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGC... | pathogenic | 153,407 |
Evaluate the clinical significance of the mutation at chromosome 9, position 133352071 in gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTA... | CAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTA... | pathogenic | 153,408 |
Gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant at chromosome position 133352089 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCA... | TCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCA... | pathogenic | 153,412 |
Is chromosome 9, position 133352093, gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTAC... | TCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTAC... | pathogenic | 153,413 |
Regarding the variant at chromosome 9 and position 133352100, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Inborn_genetic_diseases', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAG... | GGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAG... | pathogenic | 153,414 |
Evaluate the clinical significance of the mutation at chromosome 9, position 133352119 in gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Leigh_syndrome'] | AGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCC... | AGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCC... | pathogenic | 153,415 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 133352121, gene SURF1 (SURF1 cytochrome c oxidase assembly factor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAA... | GGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAA... | pathogenic | 153,416 |
Mutation at chromosome 9, position 133352134, within SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_2', 'Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGA... | GGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGA... | pathogenic | 153,418 |
A genetic variant at chromosome 9, position 133352138, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGA... | GGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGA... | pathogenic | 153,419 |
Chromosome 9, position 133352445, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACA... | GTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACA... | pathogenic | 153,423 |
A mutation at chromosome position 133352554 on chromosome 9 in gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAG... | TGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAG... | pathogenic | 153,429 |
Variant in SURF1 (SURF1 cytochrome c oxidase assembly factor), chromosome 9, position 133352564—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Leigh_syndrome'] | AACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTT... | AACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTT... | pathogenic | 153,430 |
Clinically, how would you classify the variant at chromosome 9, position 133352586, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATG... | CTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATG... | pathogenic | 153,431 |
Mutation at chromosome 9, position 133352707, within SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | AAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTT... | AAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTT... | pathogenic | 153,433 |
Does the chromosome 9 mutation at position 133352725 within gene SURF1 (SURF1 cytochrome c oxidase assembly factor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Leigh_syndrome'] | TCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCT... | TCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCT... | pathogenic | 153,437 |
Variant at chromosome 9, position 133352729, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTA... | GTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTA... | pathogenic | 153,438 |
The mutation in gene SURF1 (SURF1 cytochrome c oxidase assembly factor) at chromosome 9, position 133352746—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome'] | CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCT... | CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCT... | pathogenic | 153,440 |
Regarding the variant at chromosome 9 and position 133352746, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCT... | CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCT... | pathogenic | 153,441 |
Is the variant located on chromosome 9 at position 133352746, gene SURF1 (SURF1 cytochrome c oxidase assembly factor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCT... | CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCT... | pathogenic | 153,442 |
Benign or pathogenic: chromosome 9, position 133352748, gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant? Disease(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTT... | CCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTT... | pathogenic | 153,443 |
Variant chromosome 9, position 133353747, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? Disease(s)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGC... | TAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGC... | pathogenic | 153,448 |
Mutation found at chromosome 9 position 133353895, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTC... | GATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTC... | pathogenic | 153,450 |
Regarding the variant at chromosome 9 and position 133354660, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; [] | TAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCT... | TAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCT... | pathogenic | 153,452 |
Mutation found at chromosome 9 position 133354661, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1', 'SURF1-related_disorder'] | AAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTC... | AAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTC... | pathogenic | 153,453 |
Gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant at chromosome 9, position 133354670—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGC... | TGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGC... | pathogenic | 153,454 |
Variant at chromosome 9, position 133354700, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Leigh_syndrome', 'SURF1-related_disorder'] | CCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCC... | CCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCC... | pathogenic | 153,455 |
Determine whether the variant at chromosome 9, position 133354864, in gene SURF1 (SURF1 cytochrome c oxidase assembly factor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | ACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTA... | ACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTA... | pathogenic | 153,463 |
Clinically, how would you classify the variant at chromosome 9, position 133354877, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Leigh_syndrome'] | GTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCG... | GTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCG... | pathogenic | 153,464 |
Variant on chromosome 9, at position 133354911, affecting SURF1 (SURF1 cytochrome c oxidase assembly factor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAG... | CAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAG... | pathogenic | 153,466 |
Considering the variant on chromosome 9, location 133354954, involving gene SURF1 (SURF1 cytochrome c oxidase assembly factor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCAT... | CAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCAT... | pathogenic | 153,467 |
Located at chromosome 9 position 133356309, the variant affecting gene SURF1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | ACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGG... | ACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGG... | pathogenic | 153,472 |
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