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 |
|---|---|---|---|---|---|
Assess the variant on chromosome 11, position 108272582, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATAAGGCAAGTTTTTTACCAGAAAAGTTAAGGCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACC... | CATAAGGCAAGTTTTTTACCAGAAAAGTTAAGGCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACC... | pathogenic | 184,670 |
Variant on chromosome 11, at position 108272597, affecting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTACCAGAAAAGTTAAGGCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTG... | TTACCAGAAAAGTTAAGGCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTG... | pathogenic | 184,676 |
Does the genetic variant at chromosome 11, position 108272612, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AGGCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGA... | AGGCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGA... | benign | 184,680 |
Benign or pathogenic: chromosome 11, position 108272614, gene ATM (ATM serine/threonine kinase) variant? Disease(s) if pathogenic? | benign | GCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATG... | GCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATG... | benign | 184,682 |
Chromosome 11, position 108272620, gene ATM (ATM serine/threonine kinase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTT... | GTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTT... | benign | 184,684 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108272620 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTT... | GTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTT... | benign | 184,685 |
Mutation found at chromosome 11 position 108272703, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTG... | GTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTG... | benign | 184,692 |
Located at chromosome 11 position 108272721, the variant affecting gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGC... | GTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGC... | pathogenic | 184,703 |
Chromosome 11, position 108272735, gene ATM (ATM serine/threonine kinase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATAC... | TTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATAC... | pathogenic | 184,708 |
The mutation impacting ATM (ATM serine/threonine kinase) on chromosome 11 at position 108272735: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATAC... | TTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATAC... | pathogenic | 184,710 |
Does the chromosome 11 mutation at position 108272755 within gene ATM (ATM serine/threonine kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTG... | TTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTG... | pathogenic | 184,716 |
Does the variant impacting ATM (ATM serine/threonine kinase) on chromosome 11, position 108272772, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTT... | CTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTT... | pathogenic | 184,720 |
The mutation impacting ATM (ATM serine/threonine kinase) on chromosome 11 at position 108272785: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACC... | CCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACC... | pathogenic | 184,725 |
Determine if the mutation at chromosome 11, position 108272796 in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATC... | TGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATC... | pathogenic | 184,730 |
Clinical classification of chromosome 11, position 108272807, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTA... | GATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTA... | pathogenic | 184,734 |
The mutation in gene ATM (ATM serine/threonine kinase) at chromosome 11, position 108272812—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Cerebellar_ataxia', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGA... | CGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGA... | pathogenic | 184,736 |
Is the genetic mutation found on chromosome 11 at position 108272813, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Breast_cancer,_susceptibility_to', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAG... | GGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAG... | pathogenic | 184,737 |
Evaluate this variant at chromosome 11, position 108272817, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAGCTTC... | CACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAGCTTC... | pathogenic | 184,739 |
A genetic variant at chromosome 11, position 108272828, affecting gene ATM (ATM serine/threonine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAGCTTCCTGGAGAAGAG... | TCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAGCTTCCTGGAGAAGAG... | pathogenic | 184,742 |
Variant chromosome 11, position 108272837, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAGCTTCCTGGAGAAGAGTACCCCTTG... | AGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAGCTTCCTGGAGAAGAGTACCCCTTG... | pathogenic | 184,745 |
Classify the chromosome 11 variant at position 108272841 affecting gene ATM (ATM serine/threonine kinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAGCTTCCTGGAGAAGAGTACCCCTTGCCAA... | TCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAGCTTCCTGGAGAAGAGTACCCCTTGCCAA... | pathogenic | 184,748 |
Mutation at chromosome 11, position 108272847, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAGCTTCCTGGAGAAGAGTACCCCTTGCCAATGGAAG... | GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAGCTTCCTGGAGAAGAGTACCCCTTGCCAATGGAAG... | pathogenic | 184,751 |
Is the chromosome 11, position 108272847 variant in ATM (ATM serine/threonine kinase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAGCTTCCTGGAGAAGAGTACCCCTTGCCAATGGAAG... | GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACCACCCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTCACCATATTGGCCAGGCTGTTCTCAAACTCCTGACCTTGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTATGTTTATATACTTTTTAAAGTAAATGATTTGTGGATAAACCTGATTTTTTTCCCTCCTACCATCTTAGTATCTAATGCTTTTAAAGGAGCTTCCTGGAGAAGAGTACCCCTTGCCAATGGAAG... | pathogenic | 184,752 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108279459—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TATGAAAAAACACTCTTGCAGCTAGCTCAGTGTCTGCCCAAATGGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCA... | TATGAAAAAACACTCTTGCAGCTAGCTCAGTGTCTGCCCAAATGGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCA... | benign | 184,760 |
Chromosome 11, position 108279459, gene ATM (ATM serine/threonine kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TATGAAAAAACACTCTTGCAGCTAGCTCAGTGTCTGCCCAAATGGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCA... | TATGAAAAAACACTCTTGCAGCTAGCTCAGTGTCTGCCCAAATGGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCA... | benign | 184,761 |
Determine whether the variant at chromosome 11, position 108279476, in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GCAGCTAGCTCAGTGTCTGCCCAAATGGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTA... | GCAGCTAGCTCAGTGTCTGCCCAAATGGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTA... | benign | 184,767 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome position 108279476 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GCAGCTAGCTCAGTGTCTGCCCAAATGGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTA... | GCAGCTAGCTCAGTGTCTGCCCAAATGGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTA... | benign | 184,768 |
Classify the chromosome 11 variant at position 108279480 affecting gene ATM (ATM serine/threonine kinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CTAGCTCAGTGTCTGCCCAAATGGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTC... | CTAGCTCAGTGTCTGCCCAAATGGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTC... | benign | 184,769 |
Considering the genetic mutation at chromosome 11, position 108279496, impacting ATM (ATM serine/threonine kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCAAATGGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAA... | CCAAATGGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAA... | pathogenic | 184,772 |
A genetic variant at chromosome 11, position 108279502, affecting gene ATM (ATM serine/threonine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACC... | GGCCGCCCAGCTTTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACC... | pathogenic | 184,774 |
Considering the genetic mutation at chromosome 11, position 108279514, impacting ATM (ATM serine/threonine kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTT... | TTGTGCTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTT... | pathogenic | 184,778 |
Considering the genetic mutation at chromosome 11, position 108279519, impacting ATM (ATM serine/threonine kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCT... | CTTTAAACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCT... | pathogenic | 184,779 |
Regarding the variant at chromosome 11 and position 108279524, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTG... | AACCCAGGGCCCTGGTGGTGTAGGCACCCAAGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTG... | pathogenic | 184,783 |
Is the variant located on chromosome 11 at position 108279554, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTGGGAGCTGCAGACCAGAACTGTTCCTATGTT... | AGGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTGGGAGCTGCAGACCAGAACTGTTCCTATGTT... | pathogenic | 184,794 |
Clinically, how would you classify the variant at chromosome 11, position 108279555, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTGGGAGCTGCAGACCAGAACTGTTCCTATGTTG... | GGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTGGGAGCTGCAGACCAGAACTGTTCCTATGTTG... | pathogenic | 184,796 |
Variant chromosome 11, position 108279555, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTGGGAGCTGCAGACCAGAACTGTTCCTATGTTG... | GGGAATCTCTTGGTCTGCGGGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTGGGAGCTGCAGACCAGAACTGTTCCTATGTTG... | pathogenic | 184,797 |
Variant on chromosome 11, at position 108279574, affecting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTGGGAGCTGCAGACCAGAACTGTTCCTATGTTGCCATCTTGCTGTTCCCTTG... | GGTTGCAAAGACTGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTGGGAGCTGCAGACCAGAACTGTTCCTATGTTGCCATCTTGCTGTTCCCTTG... | pathogenic | 184,802 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome position 108279586 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTGGGAGCTGCAGACCAGAACTGTTCCTATGTTGCCATCTTGCTGTTCCCTTGTTTTATTTTTCT... | TGCGGGAAAAGCGTAGTATCTGGGCAGGAATCCACCATTCCTCACAGCATAGCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTGGGAGCTGCAGACCAGAACTGTTCCTATGTTGCCATCTTGCTGTTCCCTTGTTTTATTTTTCT... | pathogenic | 184,807 |
Variant at chromosome 11, position 108279637, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTGGGAGCTGCAGACCAGAACTGTTCCTATGTTGCCATCTTGCTGTTCCCTTGTTTTATTTTTCTCTAGTATTTATGATAACGTGAAACATATTTTAATATATTTACTTCTCCGTA... | GCCCCTCACAGCATAGTCCCTCACGGCTTCCCTTGGCTAGGGGAGGGAGTTCCCCGACCCCTTGTGCTTCCCGGGTGAGGCTACACCCCACCCTGCTTTGACTCTCCCTCCGTGGGCTGCACCCACTGTCTAACCAGTCCCAATGAGATGAGCCATCTACCTCAGTTGGAAATGCAGAAATCACCACCTTCTGCGTTGATCTCACTGGGAGCTGCAGACCAGAACTGTTCCTATGTTGCCATCTTGCTGTTCCCTTGTTTTATTTTTCTCTAGTATTTATGATAACGTGAAACATATTTTAATATATTTACTTCTCCGTA... | benign | 184,824 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108280970, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | benign | AAACTAGAAGAATCAGAGGAACATAAACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTT... | AAACTAGAAGAATCAGAGGAACATAAACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTT... | benign | 184,828 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108280970—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AAACTAGAAGAATCAGAGGAACATAAACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTT... | AAACTAGAAGAATCAGAGGAACATAAACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTT... | benign | 184,829 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome 11, position 108280979—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GAATCAGAGGAACATAAACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATAT... | GAATCAGAGGAACATAAACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATAT... | benign | 184,830 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108280980, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | benign | AATCAGAGGAACATAAACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATT... | AATCAGAGGAACATAAACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATT... | benign | 184,832 |
The mutation impacting ATM (ATM serine/threonine kinase) on chromosome 11 at position 108280980: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AATCAGAGGAACATAAACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATT... | AATCAGAGGAACATAAACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATT... | benign | 184,833 |
Is the genetic mutation found on chromosome 11 at position 108280980, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AATCAGAGGAACATAAACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATT... | AATCAGAGGAACATAAACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATT... | benign | 184,834 |
Mutation found at chromosome 11 position 108280995, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCA... | AACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCA... | pathogenic | 184,838 |
Variant at chromosome 11, position 108280996, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAG... | ACAATTATAAAAGCTTCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAG... | pathogenic | 184,839 |
Classify the chromosome 11 variant at position 108281011 affecting gene ATM (ATM serine/threonine kinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATA... | TCGATTACTAAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATA... | pathogenic | 184,845 |
Is the genetic change at chromosome 11, position 108281020, within gene ATM (ATM serine/threonine kinase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTA... | AAAAAAGGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTA... | pathogenic | 184,847 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108281026—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAG... | GGATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAG... | pathogenic | 184,849 |
Clinically, how would you classify the variant at chromosome 11, position 108281027, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['ATM-related_cancer_predisposition', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGA... | GATAAAAGACAAAGTTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGA... | pathogenic | 184,851 |
Assess the variant on chromosome 11, position 108281041, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGC... | TTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGC... | pathogenic | 184,856 |
Variant on chromosome 11, at position 108281041, affecting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGC... | TTGATTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGC... | pathogenic | 184,857 |
The chromosome 11, position 108281045 genetic variant in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCT... | TTAAAGAGTTATCCTTAAATATGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCT... | pathogenic | 184,861 |
Is the variant located on chromosome 11 at position 108281066, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAA... | TGTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAA... | pathogenic | 184,869 |
Clinical classification of chromosome 11, position 108281067, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAA... | GTGGGTGTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAA... | pathogenic | 184,870 |
Considering the genetic mutation at chromosome 11, position 108281073, impacting ATM (ATM serine/threonine kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGG... | GTTACGCAAAAGGTGTACTGATCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGG... | pathogenic | 184,871 |
Mutation at chromosome 11, position 108281094, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAG... | TCAACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAG... | pathogenic | 184,877 |
Regarding the variant found on chromosome 11 at position 108281097 in gene ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGC... | ACTTTTTTCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGC... | pathogenic | 184,879 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108281104—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATG... | TCCATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATG... | pathogenic | 184,882 |
Assess the variant on chromosome 11, position 108281107, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTA... | ATCACATAAAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTA... | pathogenic | 184,884 |
Is the genetic mutation found on chromosome 11 at position 108281115, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCT... | AAACAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCT... | pathogenic | 184,887 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108281118—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome'] | CAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCTCAC... | CAAAATTTAAATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCTCAC... | pathogenic | 184,889 |
Classify the chromosome 11 variant at position 108281128 affecting gene ATM (ATM serine/threonine kinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCTCACAGAGTGATTT... | ATGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCTCACAGAGTGATTT... | pathogenic | 184,894 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome position 108281129 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCTCACAGAGTGATTTA... | TGGTACATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCTCACAGAGTGATTTA... | pathogenic | 184,896 |
Does the variant impacting ATM (ATM serine/threonine kinase) on chromosome 11, position 108281134, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCTCACAGAGTGATTTATTTTT... | CATAAAAACATTAACTTACCCGCTTTCAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCTCACAGAGTGATTTATTTTT... | pathogenic | 184,898 |
The chromosome 11, position 108281160 genetic variant in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCTCACAGAGTGATTTATTTTTGTTCTGGAATATGCTTTGGAAAGTAG... | CAGAGTGATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCTCACAGAGTGATTTATTTTTGTTCTGGAATATGCTTTGGAAAGTAG... | pathogenic | 184,902 |
For chromosome 11, position 108281166, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCTCACAGAGTGATTTATTTTTGTTCTGGAATATGCTTTGGAAAGTAGGGTTTG... | GATTAAATGTTAGAGCAGGTTGACATTGGAATCTGTGGACTCAACTAATTGGTGTTCGGCCAGAGAACAGTTTATCTTTTCTGGCTAGTTTGAGTTCAGTGCTGTTCAAATTTGAGCAATAGTTAAAATATATTTTGAGACCCTCTTCAGTTCTAGGAGAAAATAGATTTTGTATTCAAGACCTTAATACTAAGCTGCTGGTCTGAACCTCTTTAAATAAACTCAGGTTTTGTTAGTCTTTAAGAAAGAGCTAGTATGTTATTATGTCTCACAGAGTGATTTATTTTTGTTCTGGAATATGCTTTGGAAAGTAGGGTTTG... | pathogenic | 184,904 |
Variant chromosome 11, position 108282693, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | benign | TAAATGTTTCTGTATTTTTTAGAGGATAACTATAATGTTTGGTTTGGTTCTGAGTAAAGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTAC... | TAAATGTTTCTGTATTTTTTAGAGGATAACTATAATGTTTGGTTTGGTTCTGAGTAAAGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTAC... | benign | 184,913 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome 11, position 108282693—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TAAATGTTTCTGTATTTTTTAGAGGATAACTATAATGTTTGGTTTGGTTCTGAGTAAAGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTAC... | TAAATGTTTCTGTATTTTTTAGAGGATAACTATAATGTTTGGTTTGGTTCTGAGTAAAGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTAC... | benign | 184,914 |
Is the variant located on chromosome 11 at position 108282699, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTCTGTATTTTTTAGAGGATAACTATAATGTTTGGTTTGGTTCTGAGTAAAGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACA... | TTTCTGTATTTTTTAGAGGATAACTATAATGTTTGGTTTGGTTCTGAGTAAAGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACA... | pathogenic | 184,919 |
Is the genetic change at chromosome 11, position 108282732, within gene ATM (ATM serine/threonine kinase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGTTTGGTTCTGAGTAAAGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGT... | TGGTTTGGTTCTGAGTAAAGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGT... | pathogenic | 184,931 |
Considering the variant on chromosome 11, location 108282732, involving gene ATM (ATM serine/threonine kinase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGTTTGGTTCTGAGTAAAGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGT... | TGGTTTGGTTCTGAGTAAAGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGT... | pathogenic | 184,932 |
Located at chromosome 11 position 108282741, the variant affecting gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTGAGTAAAGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAAC... | TCTGAGTAAAGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAAC... | pathogenic | 184,935 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108282750—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACT... | AGTAAAAGATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACT... | pathogenic | 184,940 |
Does the variant on chromosome 11 at location 108282757 affecting gene ATM (ATM serine/threonine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATG... | GATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATG... | pathogenic | 184,943 |
Is chromosome 11, position 108282757, gene ATM (ATM serine/threonine kinase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_carcinoma'] | GATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATG... | GATTTTTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATG... | pathogenic | 184,944 |
Variant chromosome 11, position 108282762, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Malignant_tumor_of_breast'] | TTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATT... | TTAGCCAGAATGTTATAGATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATT... | pathogenic | 184,946 |
Variant in gene ATM (ATM serine/threonine kinase), located at chromosome 11 position 108282780: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTT... | ATCTGTGTCTTATAAAAAATGGATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTT... | pathogenic | 184,950 |
Mutation at chromosome 11, position 108282802, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGG... | ATGAAGGAATTGACTTAGTGGAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGG... | pathogenic | 184,957 |
Determine whether the variant at chromosome 11, position 108282822, in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATC... | GAAAGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATC... | pathogenic | 184,967 |
Is the chromosome 11, position 108282825 variant in ATM (ATM serine/threonine kinase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATCTGC... | AGCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATCTGC... | pathogenic | 184,969 |
Does the variant on chromosome 11 at location 108282826 affecting gene ATM (ATM serine/threonine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome'] | GCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATCTGCG... | GCTCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATCTGCG... | pathogenic | 184,970 |
The mutation in gene ATM (ATM serine/threonine kinase) at chromosome 11, position 108282828—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATCTGCGAA... | TCACATTTGTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATCTGCGAA... | pathogenic | 184,971 |
Evaluate this variant at chromosome 11, position 108282836, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATCTGCGAAAAACAGGC... | GTTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATCTGCGAAAAACAGGC... | pathogenic | 184,973 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108282837—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATCTGCGAAAAACAGGCT... | TTTTTAAACATGTCAGTGCTTGTGATTTAGCAAAGGTATTGGTCCTTACTCTTTCTTGTACCAAAAGACAGAACTAGGATTAGTGAGTAGGAGGTTTCTGAAATGTGTATAGCTTGTCAAAAAATCTGGAGTTCAGTTGGGATTTTATAATTGATTGTTAAACATTTACATTTTACATTACATTTTTTTTTTAATTTCTTTTTAAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATCTGCGAAAAACAGGCT... | pathogenic | 184,974 |
The mutation in gene ATM (ATM serine/threonine kinase) at chromosome 11, position 108284219—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTAT... | AGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTAT... | benign | 184,997 |
Benign or pathogenic: chromosome 11, position 108284233, gene ATM (ATM serine/threonine kinase) variant? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTT... | TGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTT... | pathogenic | 185,005 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome position 108284234 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | GGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTA... | GGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTA... | pathogenic | 185,006 |
Evaluate if the mutation on chromosome 11 at position 108284237 in ATM (ATM serine/threonine kinase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACA... | ATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACA... | pathogenic | 185,009 |
Regarding the variant at chromosome 11 and position 108284238, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACAT... | TGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACAT... | pathogenic | 185,010 |
Benign or pathogenic: chromosome 11, position 108284240, gene ATM (ATM serine/threonine kinase) variant? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTT... | ATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTT... | pathogenic | 185,012 |
A mutation at chromosome position 108284250 on chromosome 11 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | ACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTT... | ACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTT... | pathogenic | 185,015 |
Variant chromosome 11, position 108284259, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTG... | TCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTG... | pathogenic | 185,019 |
Evaluate this variant at chromosome 11, position 108284280, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['ATM-related_cancer_predisposition', 'ATM-related_cancer_predisposition_syndrome', 'ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Breast_and/or_ovarian_cancer', 'Breast_carcinoma', 'Familial_cancer_of_breast', 'Familial_pancreatic_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAG... | ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAG... | pathogenic | 185,022 |
Variant at chromosome position 108284317, chromosome 11, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGA... | AGGCGCCCGTCGTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGA... | pathogenic | 185,032 |
Mutation at chromosome 11, position 108284328, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGA... | GTCACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGA... | pathogenic | 185,036 |
Considering the variant on chromosome 11, location 108284331, involving gene ATM (ATM serine/threonine kinase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAA... | ACATCCACACACCTGGCTAATTTATTATACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAA... | pathogenic | 185,038 |
Clinically, how would you classify the variant at chromosome 11, position 108284359, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTA... | ACAGACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTA... | pathogenic | 185,041 |
Considering the genetic mutation at chromosome 11, position 108284362, impacting ATM (ATM serine/threonine kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTC... | GACGGGCTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTC... | pathogenic | 185,043 |
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