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 2046108, chromosome 16, gene NTHL1 (nth like DNA glycosylase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AGGAAGGAGGGCTGGAGCTGGGGCTTCCCCACCAGCTGCCAGGCCTGCCGGGTGGTTCCCATCCTGTGCCTGAGTGGAGAGGGCTATTTAAAACCCATCTGAGAAACTGCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTG... | AGGAAGGAGGGCTGGAGCTGGGGCTTCCCCACCAGCTGCCAGGCCTGCCGGGTGGTTCCCATCCTGTGCCTGAGTGGAGAGGGCTATTTAAAACCCATCTGAGAAACTGCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTG... | benign | 242,164 |
Considering the genetic mutation at chromosome 16, position 2046128, impacting NTHL1 (nth like DNA glycosylase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_3'] | GGGCTTCCCCACCAGCTGCCAGGCCTGCCGGGTGGTTCCCATCCTGTGCCTGAGTGGAGAGGGCTATTTAAAACCCATCTGAGAAACTGCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGC... | GGGCTTCCCCACCAGCTGCCAGGCCTGCCGGGTGGTTCCCATCCTGTGCCTGAGTGGAGAGGGCTATTTAAAACCCATCTGAGAAACTGCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGC... | pathogenic | 242,168 |
Does the variant impacting NTHL1 (nth like DNA glycosylase 1) on chromosome 16, position 2046131, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | CTTCCCCACCAGCTGCCAGGCCTGCCGGGTGGTTCCCATCCTGTGCCTGAGTGGAGAGGGCTATTTAAAACCCATCTGAGAAACTGCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAG... | CTTCCCCACCAGCTGCCAGGCCTGCCGGGTGGTTCCCATCCTGTGCCTGAGTGGAGAGGGCTATTTAAAACCCATCTGAGAAACTGCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAG... | pathogenic | 242,169 |
Does the genetic variant at chromosome 16, position 2046131, impacting gene NTHL1 (nth like DNA glycosylase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | CTTCCCCACCAGCTGCCAGGCCTGCCGGGTGGTTCCCATCCTGTGCCTGAGTGGAGAGGGCTATTTAAAACCCATCTGAGAAACTGCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAG... | CTTCCCCACCAGCTGCCAGGCCTGCCGGGTGGTTCCCATCCTGTGCCTGAGTGGAGAGGGCTATTTAAAACCCATCTGAGAAACTGCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAG... | pathogenic | 242,170 |
Does the chromosome 16 mutation at position 2046174 within gene NTHL1 (nth like DNA glycosylase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGCCTGAGTGGAGAGGGCTATTTAAAACCCATCTGAGAAACTGCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGC... | TGCCTGAGTGGAGAGGGCTATTTAAAACCCATCTGAGAAACTGCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGC... | pathogenic | 242,179 |
Does the variant impacting NTHL1 (nth like DNA glycosylase 1) on chromosome 16, position 2046216, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | GCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCAC... | GCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCAC... | pathogenic | 242,184 |
Variant at chromosome 16, position 2046249, gene NTHL1 (nth like DNA glycosylase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | CACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAG... | CACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAG... | pathogenic | 242,192 |
Gene NTHL1 (nth like DNA glycosylase 1) variant at chromosome 16, position 2046255—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | CCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAG... | CCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAG... | pathogenic | 242,195 |
A genetic variant on chromosome 16, position 2046270, affects the gene NTHL1 (nth like DNA glycosylase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome', 'NTHL1-deficiency_tumor_predisposition_syndrome'] | CAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCAC... | CAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCAC... | pathogenic | 242,199 |
Is chromosome 16, position 2046278, gene NTHL1 (nth like DNA glycosylase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | CCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCA... | CCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCA... | pathogenic | 242,201 |
Does the variant impacting NTHL1 (nth like DNA glycosylase 1) on chromosome 16, position 2046313, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_adenomatous_polyposis_3'] | CAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTCGCCACCCCCCTCAGCCTTCTGAGGTCTCTC... | CAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTCGCCACCCCCCTCAGCCTTCTGAGGTCTCTC... | pathogenic | 242,210 |
Assess the variant on chromosome 16, position 2046316, impacting NTHL1 (nth like DNA glycosylase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | CCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTCGCCACCCCCCTCAGCCTTCTGAGGTCTCTCTCA... | CCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTCGCCACCCCCCTCAGCCTTCTGAGGTCTCTCTCA... | pathogenic | 242,212 |
Mutation at chromosome 16, position 2046320, within NTHL1 (nth like DNA glycosylase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | CCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTCGCCACCCCCCTCAGCCTTCTGAGGTCTCTCTCAGGCC... | CCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTCGCCACCCCCCTCAGCCTTCTGAGGTCTCTCTCAGGCC... | pathogenic | 242,213 |
Evaluate this variant at chromosome 16, position 2046343, gene NTHL1 (nth like DNA glycosylase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | GGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTCGCCACCCCCCTCAGCCTTCTGAGGTCTCTCTCAGGCCACTGCCACCCGGCCCCCGTTGCC... | GGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTCGCCACCCCCCTCAGCCTTCTGAGGTCTCTCTCAGGCCACTGCCACCCGGCCCCCGTTGCC... | pathogenic | 242,218 |
The mutation impacting NTHL1 (nth like DNA glycosylase 1) on chromosome 16 at position 2046370: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTCGCCACCCCCCTCAGCCTTCTGAGGTCTCTCTCAGGCCACTGCCACCCGGCCCCCGTTGCCACAGGCAGGGCTCACCCTCCAGAAACC... | CGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTCGCCACCCCCCTCAGCCTTCTGAGGTCTCTCTCAGGCCACTGCCACCCGGCCCCCGTTGCCACAGGCAGGGCTCACCCTCCAGAAACC... | benign | 242,228 |
Variant on chromosome 16, at position 2047739, affecting NTHL1 (nth like DNA glycosylase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | CCTCCCGAAGTGCTGGGATTACAGGCCTGAACCACCATGCCTGGCCCATACTACCCATTTTACAGACAAGCAAACTGAGGCTCAGAGAGGCCTGTATCCAAGCCACCTGGTAGCAGAATAGGGATTAGAACTCAGCTTGGTCTAAGGGTTTCAGGCCCTGGGACCGTGAAGCAAAAGGAACTCTTCCTTCCTGATATCACACAAAGCCCAGGTCACGCCTGCACTGGGCAGAAGTTCGAGCACGAGGCCCTAAACCACTGGTGTCCTGACCTGCTGAGTGGCTACAGTGATGCAGGCGATGCTCTGGGGCACCGGGTGTC... | CCTCCCGAAGTGCTGGGATTACAGGCCTGAACCACCATGCCTGGCCCATACTACCCATTTTACAGACAAGCAAACTGAGGCTCAGAGAGGCCTGTATCCAAGCCACCTGGTAGCAGAATAGGGATTAGAACTCAGCTTGGTCTAAGGGTTTCAGGCCCTGGGACCGTGAAGCAAAAGGAACTCTTCCTTCCTGATATCACACAAAGCCCAGGTCACGCCTGCACTGGGCAGAAGTTCGAGCACGAGGCCCTAAACCACTGGTGTCCTGACCTGCTGAGTGGCTACAGTGATGCAGGCGATGCTCTGGGGCACCGGGTGTC... | pathogenic | 242,243 |
Determine whether the variant at chromosome 16, position 2047744, in gene NTHL1 (nth like DNA glycosylase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | CGAAGTGCTGGGATTACAGGCCTGAACCACCATGCCTGGCCCATACTACCCATTTTACAGACAAGCAAACTGAGGCTCAGAGAGGCCTGTATCCAAGCCACCTGGTAGCAGAATAGGGATTAGAACTCAGCTTGGTCTAAGGGTTTCAGGCCCTGGGACCGTGAAGCAAAAGGAACTCTTCCTTCCTGATATCACACAAAGCCCAGGTCACGCCTGCACTGGGCAGAAGTTCGAGCACGAGGCCCTAAACCACTGGTGTCCTGACCTGCTGAGTGGCTACAGTGATGCAGGCGATGCTCTGGGGCACCGGGTGTCCATCC... | CGAAGTGCTGGGATTACAGGCCTGAACCACCATGCCTGGCCCATACTACCCATTTTACAGACAAGCAAACTGAGGCTCAGAGAGGCCTGTATCCAAGCCACCTGGTAGCAGAATAGGGATTAGAACTCAGCTTGGTCTAAGGGTTTCAGGCCCTGGGACCGTGAAGCAAAAGGAACTCTTCCTTCCTGATATCACACAAAGCCCAGGTCACGCCTGCACTGGGCAGAAGTTCGAGCACGAGGCCCTAAACCACTGGTGTCCTGACCTGCTGAGTGGCTACAGTGATGCAGGCGATGCTCTGGGGCACCGGGTGTCCATCC... | pathogenic | 242,245 |
Regarding the variant found on chromosome 16 at position 2047763 in gene NTHL1 (nth like DNA glycosylase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_3'] | GCCTGAACCACCATGCCTGGCCCATACTACCCATTTTACAGACAAGCAAACTGAGGCTCAGAGAGGCCTGTATCCAAGCCACCTGGTAGCAGAATAGGGATTAGAACTCAGCTTGGTCTAAGGGTTTCAGGCCCTGGGACCGTGAAGCAAAAGGAACTCTTCCTTCCTGATATCACACAAAGCCCAGGTCACGCCTGCACTGGGCAGAAGTTCGAGCACGAGGCCCTAAACCACTGGTGTCCTGACCTGCTGAGTGGCTACAGTGATGCAGGCGATGCTCTGGGGCACCGGGTGTCCATCCTCCCAAGGTGCTGTCTGCA... | GCCTGAACCACCATGCCTGGCCCATACTACCCATTTTACAGACAAGCAAACTGAGGCTCAGAGAGGCCTGTATCCAAGCCACCTGGTAGCAGAATAGGGATTAGAACTCAGCTTGGTCTAAGGGTTTCAGGCCCTGGGACCGTGAAGCAAAAGGAACTCTTCCTTCCTGATATCACACAAAGCCCAGGTCACGCCTGCACTGGGCAGAAGTTCGAGCACGAGGCCCTAAACCACTGGTGTCCTGACCTGCTGAGTGGCTACAGTGATGCAGGCGATGCTCTGGGGCACCGGGTGTCCATCCTCCCAAGGTGCTGTCTGCA... | pathogenic | 242,255 |
Is the chromosome 16, position 2047770 variant in NTHL1 (nth like DNA glycosylase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | CCACCATGCCTGGCCCATACTACCCATTTTACAGACAAGCAAACTGAGGCTCAGAGAGGCCTGTATCCAAGCCACCTGGTAGCAGAATAGGGATTAGAACTCAGCTTGGTCTAAGGGTTTCAGGCCCTGGGACCGTGAAGCAAAAGGAACTCTTCCTTCCTGATATCACACAAAGCCCAGGTCACGCCTGCACTGGGCAGAAGTTCGAGCACGAGGCCCTAAACCACTGGTGTCCTGACCTGCTGAGTGGCTACAGTGATGCAGGCGATGCTCTGGGGCACCGGGTGTCCATCCTCCCAAGGTGCTGTCTGCAGGGGAGG... | CCACCATGCCTGGCCCATACTACCCATTTTACAGACAAGCAAACTGAGGCTCAGAGAGGCCTGTATCCAAGCCACCTGGTAGCAGAATAGGGATTAGAACTCAGCTTGGTCTAAGGGTTTCAGGCCCTGGGACCGTGAAGCAAAAGGAACTCTTCCTTCCTGATATCACACAAAGCCCAGGTCACGCCTGCACTGGGCAGAAGTTCGAGCACGAGGCCCTAAACCACTGGTGTCCTGACCTGCTGAGTGGCTACAGTGATGCAGGCGATGCTCTGGGGCACCGGGTGTCCATCCTCCCAAGGTGCTGTCTGCAGGGGAGG... | pathogenic | 242,257 |
Chromosome 16, position 2048067, gene TSC2: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CAAGGTGCTGTCTGCAGGGGAGGGTGCCAGCCAAAAGCCACCGGGTAGAAAGAAAACAAGGACCTTGCTAAGATGGGGGGTCATCTGGGCAGATGGGGCCCCTGCCTACCTTTGGGGGGGCACTGGAGTCATAGCAGTGCTCAGTCCCCAGATGGTCCACAGGTGCATCCTTTTTGTTCCTCATGGCACGGATGTTGACCAGCTGTTGCTGCCAGTCCTGGGGCTCCCAGACTGGCACCTTGAGGGGCTCAGCCCCCTCACCTTTCTCACTGTCCGAGCCCTCATAGGCCACACGCAGTCTCTGTGCTTTCCGCGGACGC... | CAAGGTGCTGTCTGCAGGGGAGGGTGCCAGCCAAAAGCCACCGGGTAGAAAGAAAACAAGGACCTTGCTAAGATGGGGGGTCATCTGGGCAGATGGGGCCCCTGCCTACCTTTGGGGGGGCACTGGAGTCATAGCAGTGCTCAGTCCCCAGATGGTCCACAGGTGCATCCTTTTTGTTCCTCATGGCACGGATGTTGACCAGCTGTTGCTGCCAGTCCTGGGGCTCCCAGACTGGCACCTTGAGGGGCTCAGCCCCCTCACCTTTCTCACTGTCCGAGCCCTCATAGGCCACACGCAGTCTCTGTGCTTTCCGCGGACGC... | benign | 242,285 |
Clinically, how would you classify the variant at chromosome 16, position 2048633, gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | ACAGCCTGTACCAAGGTGCCCCCAATACATCTTCTATACTGCACCAGAGACAGTCTGCTAACACCCACATCAGGTTGTGTCACTCCCTTTTAAAAAATCCTGGCCGGCCGGGCGCGGTGGATCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCAGGGGCCTATAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGGGGCG... | ACAGCCTGTACCAAGGTGCCCCCAATACATCTTCTATACTGCACCAGAGACAGTCTGCTAACACCCACATCAGGTTGTGTCACTCCCTTTTAAAAAATCCTGGCCGGCCGGGCGCGGTGGATCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCAGGGGCCTATAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGGGGCG... | pathogenic | 242,289 |
Is the genetic mutation found on chromosome 16 at position 2048646, within the gene TSC2 (TSC complex subunit 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AGGTGCCCCCAATACATCTTCTATACTGCACCAGAGACAGTCTGCTAACACCCACATCAGGTTGTGTCACTCCCTTTTAAAAAATCCTGGCCGGCCGGGCGCGGTGGATCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCAGGGGCCTATAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGGGGCGGAGGTTGCAGTGA... | AGGTGCCCCCAATACATCTTCTATACTGCACCAGAGACAGTCTGCTAACACCCACATCAGGTTGTGTCACTCCCTTTTAAAAAATCCTGGCCGGCCGGGCGCGGTGGATCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCAGGGGCCTATAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGGGGCGGAGGTTGCAGTGA... | benign | 242,295 |
Benign or pathogenic: chromosome 16, position 2048657, gene TSC2 (TSC complex subunit 2) variant? Disease(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_2'] | ATACATCTTCTATACTGCACCAGAGACAGTCTGCTAACACCCACATCAGGTTGTGTCACTCCCTTTTAAAAAATCCTGGCCGGCCGGGCGCGGTGGATCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCAGGGGCCTATAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGGGGCGGAGGTTGCAGTGAGCTGAGATCAC... | ATACATCTTCTATACTGCACCAGAGACAGTCTGCTAACACCCACATCAGGTTGTGTCACTCCCTTTTAAAAAATCCTGGCCGGCCGGGCGCGGTGGATCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCAGGGGCCTATAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGGGGCGGAGGTTGCAGTGAGCTGAGATCAC... | pathogenic | 242,298 |
Assess the variant on chromosome 16, position 2048746, impacting TSC2 (TSC complex subunit 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | GCGGTGGATCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCAGGGGCCTATAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGGGGCGGAGGTTGCAGTGAGCTGAGATCACAACACTCCACTACAGCCTGGGTGACAGAGCAAGACCCGATCTCAAAACAAACAACAAAACCTCCTAATTGACTTCCGTTTACTGTCATA... | GCGGTGGATCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCAGGGGCCTATAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGGGGCGGAGGTTGCAGTGAGCTGAGATCACAACACTCCACTACAGCCTGGGTGACAGAGCAAGACCCGATCTCAAAACAAACAACAAAACCTCCTAATTGACTTCCGTTTACTGTCATA... | pathogenic | 242,314 |
Is the genetic mutation found on chromosome 16 at position 2048749, within the gene TSC2 (TSC complex subunit 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | GTGGATCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCAGGGGCCTATAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGGGGCGGAGGTTGCAGTGAGCTGAGATCACAACACTCCACTACAGCCTGGGTGACAGAGCAAGACCCGATCTCAAAACAAACAACAAAACCTCCTAATTGACTTCCGTTTACTGTCATAATA... | GTGGATCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCAGGGGCCTATAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGGGGCGGAGGTTGCAGTGAGCTGAGATCACAACACTCCACTACAGCCTGGGTGACAGAGCAAGACCCGATCTCAAAACAAACAACAAAACCTCCTAATTGACTTCCGTTTACTGTCATAATA... | pathogenic | 242,316 |
A genetic variant on chromosome 16, position 2054306, affects the gene TSC2 (TSC complex subunit 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | GTCTGAATTGGTTGGGATGTTGGTCAGATGACATCTAAAAGAACACGGCCATTTTGTTATTATTTGGTTAGAGACAAGGTCTCACTCTGTCACCCAGGCCGGGGTGCAGTGTCACAATCATGGCTCACTACAGCCTCAACCTGCCAGGCTCACGTGATCCTCCTACTTTAGCCTCTCAAGTAGCTGGGACTACAGGCATGCAGCACCACGCCTGGCTAAGTTTTGTATTTTTTGTCGTGACAGGGTCTCACTGTGTTGCCCAGGCTAGTCTGAAACTCCTGGGCTGACGTGACCCTCTCCCCTCTGCCACCCGAAGTGCT... | GTCTGAATTGGTTGGGATGTTGGTCAGATGACATCTAAAAGAACACGGCCATTTTGTTATTATTTGGTTAGAGACAAGGTCTCACTCTGTCACCCAGGCCGGGGTGCAGTGTCACAATCATGGCTCACTACAGCCTCAACCTGCCAGGCTCACGTGATCCTCCTACTTTAGCCTCTCAAGTAGCTGGGACTACAGGCATGCAGCACCACGCCTGGCTAAGTTTTGTATTTTTTGTCGTGACAGGGTCTCACTGTGTTGCCCAGGCTAGTCTGAAACTCCTGGGCTGACGTGACCCTCTCCCCTCTGCCACCCGAAGTGCT... | pathogenic | 242,389 |
Considering the genetic mutation at chromosome 16, position 2055406, impacting TSC2 (TSC complex subunit 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | TCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGGGATGGGTGACGTCAGGCTGCCCACTGACTGTCCTGTCCCTGCTGGGCCGTGTTTGGACTCCTGCCTCGGTGAGTTGCTGGGCACAGGGTCTAGGGGCTGATGGGCTCTGGAGCTGGATGGCCTGTGGGGTCTCCTGGTGTCATGAGGTCTGTGTGACCGTAGGCACTGCCTCCTCGCCTGTAAACAGATGGTCACTGCACCTT... | TCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGGGATGGGTGACGTCAGGCTGCCCACTGACTGTCCTGTCCCTGCTGGGCCGTGTTTGGACTCCTGCCTCGGTGAGTTGCTGGGCACAGGGTCTAGGGGCTGATGGGCTCTGGAGCTGGATGGCCTGTGGGGTCTCCTGGTGTCATGAGGTCTGTGTGACCGTAGGCACTGCCTCCTCGCCTGTAAACAGATGGTCACTGCACCTT... | pathogenic | 242,437 |
A genetic alteration at chromosome 16, position 2055488, in gene TSC2 (TSC complex subunit 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGGGATGGGTGACGTCAGGCTGCCCACTGACTGTCCTGTCCCTGCTGGGCCGTGTTTGGACTCCTGCCTCGGTGAGTTGCTGGGCACAGGGTCTAGGGGCTGATGGGCTCTGGAGCTGGATGGCCTGTGGGGTCTCCTGGTGTCATGAGGTCTGTGTGACCGTAGGCACTGCCTCCTCGCCTGTAAACAGATGGTCACTGCACCTTCCTCTTATGGGATGTTCTGGGGATCATATGAGGCAGTTCTCGCAGAGTGCTGAGATCGTACCTGGCAGCTGGTGTGGGGCTA... | CGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGGGATGGGTGACGTCAGGCTGCCCACTGACTGTCCTGTCCCTGCTGGGCCGTGTTTGGACTCCTGCCTCGGTGAGTTGCTGGGCACAGGGTCTAGGGGCTGATGGGCTCTGGAGCTGGATGGCCTGTGGGGTCTCCTGGTGTCATGAGGTCTGTGTGACCGTAGGCACTGCCTCCTCGCCTGTAAACAGATGGTCACTGCACCTTCCTCTTATGGGATGTTCTGGGGATCATATGAGGCAGTTCTCGCAGAGTGCTGAGATCGTACCTGGCAGCTGGTGTGGGGCTA... | pathogenic | 242,450 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 2056213, gene TSC2 (TSC complex subunit 2): what disease(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_2'] | TGCAGGGCGCCTCTGTGGGAAGGAGAGGGGTCCAGGGCTGGAGTCCGGGTGCCCCTGCACTTCAGGGACTTCTTGGCAGCCGTGTGGGCGACGCTGGCAGGCTCTGCTGATCCTGTGGCTTTTGTCTTTAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGGTGGGTGCCACCTTGGGTTGGAGGTTTCTCTGGCCTTGACGATC... | TGCAGGGCGCCTCTGTGGGAAGGAGAGGGGTCCAGGGCTGGAGTCCGGGTGCCCCTGCACTTCAGGGACTTCTTGGCAGCCGTGTGGGCGACGCTGGCAGGCTCTGCTGATCCTGTGGCTTTTGTCTTTAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGGTGGGTGCCACCTTGGGTTGGAGGTTTCTCTGGCCTTGACGATC... | pathogenic | 242,468 |
Regarding the variant at chromosome 16 and position 2057090, affecting gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CTCCTCCGAGCCACTCTCTGCTGGGGGTGGGGAACGCCCAGGAGTCTGGTGATGTCGGCGTCTCCCAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTA... | CTCCTCCGAGCCACTCTCTGCTGGGGGTGGGGAACGCCCAGGAGTCTGGTGATGTCGGCGTCTCCCAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTA... | benign | 242,532 |
Does the variant on chromosome 16 at location 2057155 affecting gene TSC2 (TSC complex subunit 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTAGATTCGGCGTCCTCGCAAACTGCCGCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGA... | CAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTAGATTCGGCGTCCTCGCAAACTGCCGCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGA... | pathogenic | 242,549 |
Determine whether the variant at chromosome 16, position 2060820, in gene TSC2 (TSC complex subunit 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CTGAGAGGAGCCGTGTTTTTTGTGGGCATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCAGGTAAGGCGGTTTCTGTGTGCAGTGAGCTGGCAGGAACGGGAGAGCTCCCCTCACGCCTGCCCACCCATCCCACTGGGGGTCCTGCTGCGGGGGCTGCGGTGGCATTTCTAGGCCTTTCCAGGCAGTTGCTTTGCAGCTGGGGGTGAGGTTTGGGGCCCTTTGTAGGCTTTAGTCTTTTTTTTTTTTTTGAGAAGGAGTTCTGCTCTTTCTGCTTGGCT... | CTGAGAGGAGCCGTGTTTTTTGTGGGCATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCAGGTAAGGCGGTTTCTGTGTGCAGTGAGCTGGCAGGAACGGGAGAGCTCCCCTCACGCCTGCCCACCCATCCCACTGGGGGTCCTGCTGCGGGGGCTGCGGTGGCATTTCTAGGCCTTTCCAGGCAGTTGCTTTGCAGCTGGGGGTGAGGTTTGGGGCCCTTTGTAGGCTTTAGTCTTTTTTTTTTTTTTGAGAAGGAGTTCTGCTCTTTCTGCTTGGCT... | benign | 242,645 |
The mutation impacting TSC2 (TSC complex subunit 2) on chromosome 16 at position 2061963: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Tuberous_sclerosis_2'] | TCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACTGCGCGCAGCCCAAAGGCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGT... | TCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACTGCGCGCAGCCCAAAGGCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGT... | pathogenic | 242,675 |
Evaluate this variant at chromosome 16, position 2061972, gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_syndrome'] | GTGCTGAGATTATAGGCATGAGCCACTGCGCGCAGCCCAAAGGCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGTCGTCCTGGT... | GTGCTGAGATTATAGGCATGAGCCACTGCGCGCAGCCCAAAGGCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGTCGTCCTGGT... | pathogenic | 242,677 |
Evaluate if the mutation on chromosome 16 at position 2062014 in TSC2 (TSC complex subunit 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGTCGTCCTGGTTTTATAGTGATGAGCTGCGGTGTGGGTCACAGGGCTCTCCTG... | GCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGTCGTCCTGGTTTTATAGTGATGAGCTGCGGTGTGGGTCACAGGGCTCTCCTG... | benign | 242,684 |
Classify the chromosome 16 variant at position 2062482 affecting gene TSC2 (TSC complex subunit 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GAGTCAGGGACTTTGCAGGCAGGCATGGGGGTGGGGCCCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTC... | GAGTCAGGGACTTTGCAGGCAGGCATGGGGGTGGGGCCCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTC... | benign | 242,692 |
The mutation impacting TSC2 (TSC complex subunit 2) on chromosome 16 at position 2062519: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['TSC2-related_disorder', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCG... | CCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCG... | pathogenic | 242,701 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 2062586, gene TSC2 (TSC complex subunit 2): what disease(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGGCAGGAGCTCCGGGGAGCACCGGGAACCCAGAC... | CGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGGCAGGAGCTCCGGGGAGCACCGGGAACCCAGAC... | pathogenic | 242,724 |
Variant chromosome 16, position 2062597, gene TSC2 (TSC complex subunit 2): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2'] | AAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGGCAGGAGCTCCGGGGAGCACCGGGAACCCAGACAGGCAGGCTCG... | AAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGGCAGGAGCTCCGGGGAGCACCGGGAACCCAGACAGGCAGGCTCG... | pathogenic | 242,726 |
A genetic alteration at chromosome 16, position 2062603, in gene TSC2 (TSC complex subunit 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGGCAGGAGCTCCGGGGAGCACCGGGAACCCAGACAGGCAGGCTCGGCCCAC... | GTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGGCAGGAGCTCCGGGGAGCACCGGGAACCCAGACAGGCAGGCTCGGCCCAC... | benign | 242,730 |
Evaluate if the mutation on chromosome 16 at position 2070443 in TSC2 (TSC complex subunit 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | ATGGGGCTGGGAGTGCCAGCCCCTGTGCAGGTGAAAATCCCCATCTAACTTTTAACTCCCCAGAAACTTTACCAACAGCCCTCTGTTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAA... | ATGGGGCTGGGAGTGCCAGCCCCTGTGCAGGTGAAAATCCCCATCTAACTTTTAACTCCCCAGAAACTTTACCAACAGCCCTCTGTTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAA... | benign | 242,865 |
Variant in TSC2 (TSC complex subunit 2), chromosome 16, position 2070443—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATGGGGCTGGGAGTGCCAGCCCCTGTGCAGGTGAAAATCCCCATCTAACTTTTAACTCCCCAGAAACTTTACCAACAGCCCTCTGTTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAA... | ATGGGGCTGGGAGTGCCAGCCCCTGTGCAGGTGAAAATCCCCATCTAACTTTTAACTCCCCAGAAACTTTACCAACAGCCCTCTGTTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAA... | pathogenic | 242,866 |
Variant at chromosome position 2070489, chromosome 16, gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2'] | AACTTTTAACTCCCCAGAAACTTTACCAACAGCCCTCTGTTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGC... | AACTTTTAACTCCCCAGAAACTTTACCAACAGCCCTCTGTTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGC... | pathogenic | 242,882 |
Mutation at chromosome 16, position 2070497, within TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_syndrome'] | ACTCCCCAGAAACTTTACCAACAGCCCTCTGTTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGG... | ACTCCCCAGAAACTTTACCAACAGCCCTCTGTTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGG... | pathogenic | 242,886 |
The mutation in gene TSC2 (TSC complex subunit 2) at chromosome 16, position 2070500—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2'] | CCCCAGAAACTTTACCAACAGCCCTCTGTTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGG... | CCCCAGAAACTTTACCAACAGCCCTCTGTTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGG... | pathogenic | 242,888 |
Located at chromosome 16 position 2070555, the variant affecting gene TSC2 (TSC complex subunit 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Tuberous_sclerosis_2'] | CAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGAT... | CAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGAT... | pathogenic | 242,910 |
Chromosome 16, position 2071611, gene TSC2 (TSC complex subunit 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2'] | TCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGG... | TCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGG... | pathogenic | 242,967 |
Variant chromosome 16, position 2071789, gene TSC2 (TSC complex subunit 2): benign or pathogenic? Disease(s)? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | AAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGG... | AAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGG... | pathogenic | 242,980 |
Variant at chromosome position 2071803, chromosome 16, gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAA... | CAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAA... | benign | 242,984 |
Evaluate if the mutation on chromosome 16 at position 2071823 in TSC2 (TSC complex subunit 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_2'] | CGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTG... | CGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTG... | pathogenic | 242,991 |
Is chromosome 16, position 2071906, gene TSC2 (TSC complex subunit 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['TSC2-related_disorder', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCC... | CCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCC... | pathogenic | 243,023 |
Clinical significance of chromosome 16, position 2071925, gene TSC2 (TSC complex subunit 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | TGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCC... | TGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCC... | pathogenic | 243,032 |
Chromosome 16, position 2072244, gene TSC2 (TSC complex subunit 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_2'] | CACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGC... | CACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGC... | pathogenic | 243,048 |
Is the genetic change at chromosome 16, position 2072319, within gene TSC2 (TSC complex subunit 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Tuberous_sclerosis_2'] | GAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTG... | GAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTG... | pathogenic | 243,069 |
Is the genetic mutation found on chromosome 16 at position 2072379, within the gene TSC2 (TSC complex subunit 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTT... | GGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTT... | benign | 243,087 |
Evaluate this variant at chromosome 16, position 2072892, gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | GCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAG... | GCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAG... | pathogenic | 243,106 |
Variant at chromosome 16, position 2072944, gene TSC2 (TSC complex subunit 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_2'] | AGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTG... | AGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTG... | pathogenic | 243,123 |
Mutation at chromosome 16, position 2072981, within TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCA... | CTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCA... | pathogenic | 243,139 |
Considering the variant on chromosome 16, location 2074294, involving gene TSC2 (TSC complex subunit 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Intellectual_disability', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | TGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGT... | TGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGT... | pathogenic | 243,169 |
Is chromosome 16, position 2074381, gene TSC2 (TSC complex subunit 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | GGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCT... | GGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCT... | pathogenic | 243,195 |
Variant at chromosome position 2075888, chromosome 16, gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2'] | TGCTGTCCTCATGGAAGACACTGCCCAGGGTTGGTGTGGGATCTGGTGGCTTGGCCACTTCAGGCAGCACTGCCCCTTGCAACAGAGCCAGCCTGTGAAGGGCCCAGAACCAGGGGATGAGAGCCCAGCATGTCTGGGTTCTGTTGGCCTGTGGGATCGTGTCGGAATGCAACTGACCGGAGCAGTCTGCTGTGCAGAGTCTGCTCGGGTAGCTCAGCACTGCTGGCTCTGCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTG... | TGCTGTCCTCATGGAAGACACTGCCCAGGGTTGGTGTGGGATCTGGTGGCTTGGCCACTTCAGGCAGCACTGCCCCTTGCAACAGAGCCAGCCTGTGAAGGGCCCAGAACCAGGGGATGAGAGCCCAGCATGTCTGGGTTCTGTTGGCCTGTGGGATCGTGTCGGAATGCAACTGACCGGAGCAGTCTGCTGTGCAGAGTCTGCTCGGGTAGCTCAGCACTGCTGGCTCTGCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTG... | pathogenic | 243,251 |
Benign or pathogenic: chromosome 16, position 2076083, gene TSC2 (TSC complex subunit 2) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_syndrome'] | AGAGTCTGCTCGGGTAGCTCAGCACTGCTGGCTCTGCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGC... | AGAGTCTGCTCGGGTAGCTCAGCACTGCTGGCTCTGCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGC... | pathogenic | 243,265 |
Variant in TSC2 (TSC complex subunit 2), chromosome 16, position 2076511—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bone_osteosarcoma', 'Tuberous_sclerosis_2'] | CCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGG... | CCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGG... | pathogenic | 243,311 |
Does the chromosome 16 mutation at position 2076516 within gene TSC2 (TSC complex subunit 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Tuberous_sclerosis_2'] | CTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGC... | CTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGC... | pathogenic | 243,313 |
A genetic alteration at chromosome 16, position 2076595, in gene TSC2 (TSC complex subunit 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTT... | TGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTT... | benign | 243,336 |
Considering the genetic mutation at chromosome 16, position 2079162, impacting TSC2 (TSC complex subunit 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGC... | CCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGC... | pathogenic | 243,408 |
Does the genetic variant at chromosome 16, position 2079163, impacting gene TSC2 (TSC complex subunit 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Lymphangiomyomatosis', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCT... | CCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCT... | pathogenic | 243,409 |
A mutation at chromosome position 2079347 on chromosome 16 in gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCC... | CCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCC... | pathogenic | 243,443 |
Variant in TSC2 (TSC complex subunit 2), chromosome 16, position 2079362—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | ACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAA... | ACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAA... | pathogenic | 243,448 |
Variant at chromosome position 2079398, chromosome 16, gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | GTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTC... | GTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTC... | pathogenic | 243,461 |
Variant at chromosome 16, position 2079645, gene TSC2 (TSC complex subunit 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_2'] | GTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTG... | GTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTG... | pathogenic | 243,501 |
Is the genetic variant on chromosome 16, position 2080146, gene TSC2 (TSC complex subunit 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCT... | GGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCT... | benign | 243,511 |
Chromosome 16, position 2080154, gene TSC2 (TSC complex subunit 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTG... | TTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTG... | benign | 243,512 |
Is the variant located on chromosome 16 at position 2080163, gene TSC2 (TSC complex subunit 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | AGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGC... | AGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGC... | pathogenic | 243,514 |
Variant chromosome 16, position 2080270, gene TSC2 (TSC complex subunit 2): benign or pathogenic? Disease(s)? | pathogenic; ['Tuberous_sclerosis_2'] | CCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAA... | CCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAA... | pathogenic | 243,545 |
Is the genetic change at chromosome 16, position 2080357, within gene TSC2 (TSC complex subunit 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Tuberous_sclerosis_2'] | GCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACAT... | GCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACAT... | pathogenic | 243,571 |
Does the genetic variant at chromosome 16, position 2080418, impacting gene TSC2 (TSC complex subunit 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGC... | GTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGC... | benign | 243,583 |
A genetic variant at chromosome 16, position 2081631, affecting gene TSC2 (TSC complex subunit 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Tuberous_sclerosis_2'] | AGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGG... | AGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGG... | pathogenic | 243,603 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 2081662, gene TSC2 (TSC complex subunit 2): what disease(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_2'] | CCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTC... | CCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTC... | pathogenic | 243,612 |
Variant in gene TSC2 (TSC complex subunit 2), located at chromosome 16 position 2081667: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGC... | CTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGC... | pathogenic | 243,615 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 2081674, gene TSC2 (TSC complex subunit 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | GCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCG... | GCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCG... | pathogenic | 243,620 |
Assess the variant on chromosome 16, position 2081679, impacting TSC2 (TSC complex subunit 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Lymphangiomyomatosis', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | TGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCG... | TGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCG... | pathogenic | 243,622 |
Determine whether the variant at chromosome 16, position 2081717, in gene TSC2 (TSC complex subunit 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Tuberous_sclerosis_2'] | GGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGT... | GGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGT... | pathogenic | 243,632 |
Classify the chromosome 16 variant at position 2081729 affecting gene TSC2 (TSC complex subunit 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['TSC2-related_disorder', 'Tuberous_sclerosis_2'] | CCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTC... | CCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTC... | pathogenic | 243,636 |
Regarding the variant at chromosome 16 and position 2081742, affecting gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2'] | CACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCA... | CACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCA... | pathogenic | 243,642 |
Variant at chromosome 16, position 2081760, gene TSC2 (TSC complex subunit 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2'] | CCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCC... | CCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCC... | pathogenic | 243,649 |
Benign or pathogenic: chromosome 16, position 2081767, gene TSC2 (TSC complex subunit 2) variant? Disease(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_2'] | TTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGC... | TTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGC... | pathogenic | 243,652 |
For chromosome 16, position 2081770, gene TSC2 (TSC complex subunit 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGA... | CTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGA... | pathogenic | 243,655 |
Determine whether the variant at chromosome 16, position 2081777, in gene TSC2 (TSC complex subunit 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_2'] | TCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCA... | TCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCA... | pathogenic | 243,660 |
Does the chromosome 16 mutation at position 2081780 within gene TSC2 (TSC complex subunit 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2'] | CAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCG... | CAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCG... | pathogenic | 243,661 |
A genetic variant on chromosome 16, position 2082465, affects the gene TSC2 (TSC complex subunit 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTG... | GTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTG... | benign | 243,684 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 2082516, gene TSC2 (TSC complex subunit 2). What disease(s) is it linked to if pathogenic? | benign | TGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTT... | TGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTT... | benign | 243,697 |
The mutation impacting TSC2 (TSC complex subunit 2) on chromosome 16 at position 2084210: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCT... | CTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCT... | benign | 243,748 |
Gene mutation in TSC2 (TSC complex subunit 2) at chromosome 16, position 2084334—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | GCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCC... | GCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCC... | pathogenic | 243,787 |
Considering the variant on chromosome 16, location 2084364, involving gene TSC2 (TSC complex subunit 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTC... | CCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTC... | pathogenic | 243,797 |
Variant in TSC2 (TSC complex subunit 2), chromosome 16, position 2084399—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | GCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTG... | GCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTG... | pathogenic | 243,809 |
The mutation impacting TSC2 (TSC complex subunit 2) on chromosome 16 at position 2084474: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Tuberous_sclerosis_2'] | TCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCA... | TCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCA... | pathogenic | 243,828 |
Variant at chromosome position 2084476, chromosome 16, gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGC... | CCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGC... | pathogenic | 243,829 |
The genetic variant at chromosome 16, position 2084534, affecting gene TSC2 (TSC complex subunit 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | AGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCA... | AGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCA... | pathogenic | 243,841 |
Determine if the mutation at chromosome 16, position 2084567 in gene TSC2 (TSC complex subunit 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | AGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAG... | AGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAG... | pathogenic | 243,853 |
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