question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
A genetic variant on chromosome 11, position 108248944, affects the gene ATM (ATM serine/threonine kinase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TTTGTGGGAGCTAGCAGTGTAAACAGAGTACATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTC... | TTTGTGGGAGCTAGCAGTGTAAACAGAGTACATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTC... | pathogenic | 183,728 |
Mutation found at chromosome 11 position 108248975, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACA... | ATACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACA... | pathogenic | 183,736 |
Does the chromosome 11 mutation at position 108248976 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', 'Hereditary_cancer-predisposing_syndrome'] | TACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACAT... | TACATAAAAATTACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACAT... | pathogenic | 183,737 |
Determine whether the variant at chromosome 11, position 108248987, in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCC... | TACATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCC... | pathogenic | 183,746 |
Is the variant located on chromosome 11 at position 108248989, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast'] | CATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTT... | CATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTT... | pathogenic | 183,748 |
Assess the variant on chromosome 11, position 108248990, 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'] | ATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTT... | ATTTTAATTTTTTGGATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTT... | pathogenic | 183,749 |
Chromosome 11, position 108249005, gene ATM (ATM serine/threonine kinase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAAT... | ATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAAT... | pathogenic | 183,754 |
Clinical classification of chromosome 11, position 108249005, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | ATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAAT... | ATTACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAAT... | pathogenic | 183,755 |
Variant in gene ATM (ATM serine/threonine kinase), located at chromosome 11 position 108249007: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATAT... | TACAGGTGCTTATGAATCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATAT... | pathogenic | 183,756 |
Is chromosome 11, position 108249023, 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'] | TCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTT... | TCAACAAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTT... | pathogenic | 183,762 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108249028, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | AAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTT... | AAAATGGAGAAGTATTTTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTT... | pathogenic | 183,764 |
Regarding the variant at chromosome 11 and position 108249044, 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'] | TTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTTAAAAGTTAATGCTTTT... | TTATACAACTTATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTTAAAAGTTAATGCTTTT... | pathogenic | 183,768 |
Is the chromosome 11, position 108249054 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'] | TATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTTAAAAGTTAATGCTTTTGCAGATATTT... | TATATGATCTGCTAGTGAATGAGATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTTAAAAGTTAATGCTTTTGCAGATATTT... | pathogenic | 183,772 |
Clinical classification of chromosome 11, position 108249077, 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'] | ATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTTAAAAGTTAATGCTTTTGCAGATATTTGAAAACTAACAATGAACTTTTTC... | ATAAGTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTTAAAAGTTAATGCTTTTGCAGATATTTGAAAACTAACAATGAACTTTTTC... | pathogenic | 183,782 |
Determine if the mutation at chromosome 11, position 108249081 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', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | GTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTTAAAAGTTAATGCTTTTGCAGATATTTGAAAACTAACAATGAACTTTTTCATTC... | GTCATATAGGAAGTAGAGGAAAGTATTCTTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTTAAAAGTTAATGCTTTTGCAGATATTTGAAAACTAACAATGAACTTTTTCATTC... | pathogenic | 183,784 |
Clinically, how would you classify the variant at chromosome 11, position 108249109, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTTAAAAGTTAATGCTTTTGCAGATATTTGAAAACTAACAATGAACTTTTTCATTCTTAAATGATTGTCTCTAGGAAATAAGGT... | TTCAGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTTAAAAGTTAATGCTTTTGCAGATATTTGAAAACTAACAATGAACTTTTTCATTCTTAAATGATTGTCTCTAGGAAATAAGGT... | benign | 183,790 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108249112, gene ATM (ATM serine/threonine kinase): what disease(s) if pathogenic? | benign | AGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTTAAAAGTTAATGCTTTTGCAGATATTTGAAAACTAACAATGAACTTTTTCATTCTTAAATGATTGTCTCTAGGAAATAAGGTGAC... | AGGATTTCGTAATATTGCCGTCAAAGAAAATTTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTAGAAATTTCCTGTTAATTTTTTTTTTAAACTGGGCATTTTGGGCTTTTAAAACCTGTGTTCTCACAAAAAGCCTATAAAATGACTCTGTACATGCAACTATTCCTTTCAAACTATCAGAAATATTTGGAATTACCCTTTTAACTTAAAAGTTAATGCTTTTGCAGATATTTGAAAACTAACAATGAACTTTTTCATTCTTAAATGATTGTCTCTAGGAAATAAGGTGAC... | benign | 183,792 |
Mutation at chromosome 11, position 108250683, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGAT... | TCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGAT... | benign | 183,797 |
Variant at chromosome 11, position 108250683, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGAT... | TCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGAT... | benign | 183,798 |
Is the genetic change at chromosome 11, position 108250683, within gene ATM (ATM serine/threonine kinase) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGAT... | TCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGAT... | benign | 183,800 |
Variant chromosome 11, position 108250683, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | benign | TCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGAT... | TCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGAT... | benign | 183,801 |
Variant at chromosome 11, position 108250692, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGA... | TTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGA... | benign | 183,803 |
Does the variant on chromosome 11 at location 108250697 affecting gene ATM (ATM serine/threonine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCT... | GAGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCT... | pathogenic | 183,805 |
Regarding the variant at chromosome 11 and position 108250698, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTC... | AGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTC... | benign | 183,806 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108250698, gene ATM (ATM serine/threonine kinase): what disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTC... | AGGCCAAGGCGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTC... | pathogenic | 183,807 |
Variant chromosome 11, position 108250712, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACT... | AGATCACCTGAGGTTGGGAGTTCAAGACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACT... | pathogenic | 183,815 |
Considering the genetic mutation at chromosome 11, position 108250737, 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'] | GACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACA... | GACCAGTCTGACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACA... | pathogenic | 183,826 |
A mutation at chromosome position 108250747 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', 'Hereditary_cancer-predisposing_syndrome'] | ACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTG... | ACCAACATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTG... | pathogenic | 183,828 |
The chromosome 11, position 108250752 genetic variant in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Familial_colorectal_cancer_type_X', 'Hereditary_cancer-predisposing_syndrome'] | CATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAA... | CATGGAGAAACTCTGTCCCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAA... | pathogenic | 183,829 |
Considering the genetic mutation at chromosome 11, position 108250769, 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'] | CCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTA... | CCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTA... | pathogenic | 183,836 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome position 108250793 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCAC... | GGGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCAC... | pathogenic | 183,843 |
Regarding the variant found on chromosome 11 at position 108250794 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'] | GGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACC... | GGCATGGTGGTGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACC... | pathogenic | 183,847 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108250809, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGA... | GCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGA... | pathogenic | 183,854 |
Variant on chromosome 11, at position 108250819, 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'] | CCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGA... | CCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGA... | pathogenic | 183,857 |
Evaluate if the mutation on chromosome 11 at position 108250830 in ATM (ATM serine/threonine kinase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTT... | GGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTT... | pathogenic | 183,862 |
Is the variant located on chromosome 11 at position 108250832, 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'] | AGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGG... | AGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGG... | pathogenic | 183,863 |
Evaluate this variant at chromosome 11, position 108250842, 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'] | AGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTA... | AGGAGAATCACTTGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTA... | pathogenic | 183,868 |
Is the genetic change at chromosome 11, position 108250854, within gene ATM (ATM serine/threonine kinase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCAT... | TGAACCTGGGAGGTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCAT... | pathogenic | 183,874 |
Does the chromosome 11 mutation at position 108250866 within gene ATM (ATM serine/threonine kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['ATM-related_cancer_predisposition', 'ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Familial_colorectal_cancer_type_X', 'Hereditary_cancer-predisposing_syndrome'] | GTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTT... | GTAGAGGTTGTGGTGATACGAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTT... | pathogenic | 183,880 |
The genetic variant at chromosome 11, position 108250885, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATT... | GAGATCGTGCTGTTCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATT... | pathogenic | 183,888 |
Evaluate if the mutation on chromosome 11 at position 108250898 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'] | TCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTT... | TCCACTCCAACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTT... | pathogenic | 183,896 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108250907—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAA... | ACCTGGGCAACAACAGCGAAACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAA... | pathogenic | 183,899 |
Variant on chromosome 11, at position 108250927, affecting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAA... | ACTCTGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAA... | pathogenic | 183,902 |
The genetic variant at chromosome 11, position 108250931, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAA... | TGGCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAA... | pathogenic | 183,905 |
Assess the variant on chromosome 11, position 108250933, 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'] | GCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGT... | GCTCAAAAAAAAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGT... | pathogenic | 183,906 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108250943 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTA... | AAAAAAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTA... | pathogenic | 183,910 |
Clinical significance of chromosome 11, position 108250947, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCC... | AAAAGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCC... | pathogenic | 183,912 |
Variant chromosome 11, position 108250950, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAA... | AGAAAAAAGTGGATTTATTTTTATTTTACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAA... | pathogenic | 183,913 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108250977, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | ACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAAACCTATTACTAGCAAAGGGATATGTGA... | ACAGGTTTTTAATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAAACCTATTACTAGCAAAGGGATATGTGA... | pathogenic | 183,920 |
A genetic variant at chromosome 11, position 108250987, 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'] | AATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAAACCTATTACTAGCAAAGGGATATGTGATTGCCATGAC... | AATGAAGATACCAGATCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAAACCTATTACTAGCAAAGGGATATGTGATTGCCATGAC... | pathogenic | 183,926 |
Evaluate if the mutation on chromosome 11 at position 108251006 in ATM (ATM serine/threonine kinase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAAACCTATTACTAGCAAAGGGATATGTGATTGCCATGACAAATGAGATCAATCATTAA... | TGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAAACCTATTACTAGCAAAGGGATATGTGATTGCCATGACAAATGAGATCAATCATTAA... | pathogenic | 183,931 |
Assess the variant on chromosome 11, position 108251025, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'Tip-toe_gait'] | CACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAAACCTATTACTAGCAAAGGGATATGTGATTGCCATGACAAATGAGATCAATCATTAATGGCTCATTTGCTTGGGCC... | CACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAAACCTATTACTAGCAAAGGGATATGTGATTGCCATGACAAATGAGATCAATCATTAATGGCTCATTTGCTTGGGCC... | pathogenic | 183,938 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108251060—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAAACCTATTACTAGCAAAGGGATATGTGATTGCCATGACAAATGAGATCAATCATTAATGGCTCATTTGCTTGGGCCAAGTGCAGGGCCACCTATTTTAATCATATTGTCAT... | TCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAAACCTATTACTAGCAAAGGGATATGTGATTGCCATGACAAATGAGATCAATCATTAATGGCTCATTTGCTTGGGCCAAGTGCAGGGCCACCTATTTTAATCATATTGTCAT... | pathogenic | 183,949 |
Evaluate this variant at chromosome 11, position 108251088, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAAACCTATTACTAGCAAAGGGATATGTGATTGCCATGACAAATGAGATCAATCATTAATGGCTCATTTGCTTGGGCCAAGTGCAGGGCCACCTATTTTAATCATATTGTCATAGCAAGTTAAGAAGGAGGACTGGCTCTC... | AGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAAACCTATTACTAGCAAAGGGATATGTGATTGCCATGACAAATGAGATCAATCATTAATGGCTCATTTGCTTGGGCCAAGTGCAGGGCCACCTATTTTAATCATATTGTCATAGCAAGTTAAGAAGGAGGACTGGCTCTC... | benign | 183,963 |
For chromosome 11, position 108251851, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGGAAAAGCATATTGATTTAGATACCTATTGCTTAAGCTCATTTTTATATAGTTAAGAGTAGCTATTTAAGATTCTTAATTTGTCCTTTTAGTCAAGAGTAATTTATTGAACACCTGTTATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTC... | GGGAAAAGCATATTGATTTAGATACCTATTGCTTAAGCTCATTTTTATATAGTTAAGAGTAGCTATTTAAGATTCTTAATTTGTCCTTTTAGTCAAGAGTAATTTATTGAACACCTGTTATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTC... | pathogenic | 183,979 |
A genetic alteration at chromosome 11, position 108251880, in gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TGCTTAAGCTCATTTTTATATAGTTAAGAGTAGCTATTTAAGATTCTTAATTTGTCCTTTTAGTCAAGAGTAATTTATTGAACACCTGTTATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATAT... | TGCTTAAGCTCATTTTTATATAGTTAAGAGTAGCTATTTAAGATTCTTAATTTGTCCTTTTAGTCAAGAGTAATTTATTGAACACCTGTTATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATAT... | pathogenic | 183,986 |
Benign or pathogenic: chromosome 11, position 108251882, gene ATM (ATM serine/threonine kinase) variant? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTAAGCTCATTTTTATATAGTTAAGAGTAGCTATTTAAGATTCTTAATTTGTCCTTTTAGTCAAGAGTAATTTATTGAACACCTGTTATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATAT... | CTTAAGCTCATTTTTATATAGTTAAGAGTAGCTATTTAAGATTCTTAATTTGTCCTTTTAGTCAAGAGTAATTTATTGAACACCTGTTATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATAT... | pathogenic | 183,988 |
Benign or pathogenic: chromosome 11, position 108251885, gene ATM (ATM serine/threonine kinase) variant? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AAGCTCATTTTTATATAGTTAAGAGTAGCTATTTAAGATTCTTAATTTGTCCTTTTAGTCAAGAGTAATTTATTGAACACCTGTTATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATA... | AAGCTCATTTTTATATAGTTAAGAGTAGCTATTTAAGATTCTTAATTTGTCCTTTTAGTCAAGAGTAATTTATTGAACACCTGTTATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATA... | pathogenic | 183,990 |
Clinical classification of chromosome 11, position 108251887, 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'] | GCTCATTTTTATATAGTTAAGAGTAGCTATTTAAGATTCTTAATTTGTCCTTTTAGTCAAGAGTAATTTATTGAACACCTGTTATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATA... | GCTCATTTTTATATAGTTAAGAGTAGCTATTTAAGATTCTTAATTTGTCCTTTTAGTCAAGAGTAATTTATTGAACACCTGTTATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATA... | pathogenic | 183,991 |
A genetic variant on chromosome 11, position 108251966, affects the gene ATM (ATM serine/threonine kinase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTTATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTC... | TGTTATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTC... | pathogenic | 184,007 |
Located at chromosome 11 position 108251969, 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'] | TATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCAC... | TATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCAC... | pathogenic | 184,010 |
Clinically, how would you classify the variant at chromosome 11, position 108251970, 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'] | ATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACC... | ATGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACC... | pathogenic | 184,011 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108251971—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome'] | TGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCT... | TGGGCTAAGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCT... | pathogenic | 184,012 |
Does the variant on chromosome 11 at location 108251978 affecting gene ATM (ATM serine/threonine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast'] | AGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGT... | AGCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGT... | pathogenic | 184,016 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108251979, gene ATM (ATM serine/threonine kinase): what disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTT... | GCGTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTT... | pathogenic | 184,018 |
Evaluate if the mutation on chromosome 11 at position 108251981 in ATM (ATM serine/threonine kinase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome'] | GTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCA... | GTTAGATATACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCA... | pathogenic | 184,020 |
Classify the chromosome 11 variant at position 108251990 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'] | ACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAAGCAGTTAT... | ACAGAGATGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAAGCAGTTAT... | pathogenic | 184,023 |
Considering the genetic mutation at chromosome 11, position 108251997, 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'] | TGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAAGCAGTTATCCTGCCT... | TGAATAACATAAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAAGCAGTTATCCTGCCT... | pathogenic | 184,025 |
The genetic variant at chromosome 11, position 108252007, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAAGCAGTTATCCTGCCTCAGCGTCCTG... | AAGACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAAGCAGTTATCCTGCCTCAGCGTCCTG... | pathogenic | 184,027 |
Located at chromosome 11 position 108252009, the variant affecting gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['ATM-related_cancer_predisposition'] | GACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAAGCAGTTATCCTGCCTCAGCGTCCTGAG... | GACTCCTATTCTTAAGTATCACACATTCTAGAGAATACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAAGCAGTTATCCTGCCTCAGCGTCCTGAG... | pathogenic | 184,030 |
A mutation at chromosome position 108252045 on chromosome 11 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAAGCAGTTATCCTGCCTCAGCGTCCTGAGTAGCTGGGATTCCAGGCATGTGCCACCATGCCCGGC... | ACACAGCAAATGTTTATTGGATTAACTGAATTAATGTAAAGGAAAAACAGTTTTTTGGGTTTCTTTGTTTTCCTGTTTTAGAGGAATCGTTTGGTGACTAAAGAGCAAGGATGTACAAGATAACTCAGAAATAAAATATTGCTAAATATATATATATATATATATATATTTTCTGAGACGGAGGCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAAGCAGTTATCCTGCCTCAGCGTCCTGAGTAGCTGGGATTCCAGGCATGTGCCACCATGCCCGGC... | benign | 184,037 |
For chromosome 11, position 108252797, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TAACTGTGAGCTGTCTCCATTACTGATGATACTATCTCAGCTTCTACCCCAACAGCGACATGGGGAACGTACACCATATGTGTTACGATGCCTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCACAAAAGTCAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAATTCTGGAAGTTATTTACTGGGTCAGCCTGCAGACCTT... | TAACTGTGAGCTGTCTCCATTACTGATGATACTATCTCAGCTTCTACCCCAACAGCGACATGGGGAACGTACACCATATGTGTTACGATGCCTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCACAAAAGTCAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAATTCTGGAAGTTATTTACTGGGTCAGCCTGCAGACCTT... | benign | 184,043 |
A mutation at chromosome position 108252849 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', 'Hereditary_cancer-predisposing_syndrome'] | CAGCGACATGGGGAACGTACACCATATGTGTTACGATGCCTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCACAAAAGTCAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAATTCTGGAAGTTATTTACTGGGTCAGCCTGCAGACCTTCATGGTAAGTTCAGCATGCATTATGTCTGACTTACAGATAAACACACACAGA... | CAGCGACATGGGGAACGTACACCATATGTGTTACGATGCCTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCACAAAAGTCAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAATTCTGGAAGTTATTTACTGGGTCAGCCTGCAGACCTTCATGGTAAGTTCAGCATGCATTATGTCTGACTTACAGATAAACACACACAGA... | pathogenic | 184,057 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108252851—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCGACATGGGGAACGTACACCATATGTGTTACGATGCCTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCACAAAAGTCAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAATTCTGGAAGTTATTTACTGGGTCAGCCTGCAGACCTTCATGGTAAGTTCAGCATGCATTATGTCTGACTTACAGATAAACACACACAGACA... | GCGACATGGGGAACGTACACCATATGTGTTACGATGCCTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCACAAAAGTCAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAATTCTGGAAGTTATTTACTGGGTCAGCCTGCAGACCTTCATGGTAAGTTCAGCATGCATTATGTCTGACTTACAGATAAACACACACAGACA... | pathogenic | 184,059 |
Considering the genetic mutation at chromosome 11, position 108252871, 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'] | CATATGTGTTACGATGCCTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCACAAAAGTCAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAATTCTGGAAGTTATTTACTGGGTCAGCCTGCAGACCTTCATGGTAAGTTCAGCATGCATTATGTCTGACTTACAGATAAACACACACAGACACACACACACTCACATATCCC... | CATATGTGTTACGATGCCTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCACAAAAGTCAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAATTCTGGAAGTTATTTACTGGGTCAGCCTGCAGACCTTCATGGTAAGTTCAGCATGCATTATGTCTGACTTACAGATAAACACACACAGACACACACACACTCACATATCCC... | pathogenic | 184,062 |
The mutation impacting ATM (ATM serine/threonine kinase) on chromosome 11 at position 108252871: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATATGTGTTACGATGCCTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCACAAAAGTCAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAATTCTGGAAGTTATTTACTGGGTCAGCCTGCAGACCTTCATGGTAAGTTCAGCATGCATTATGTCTGACTTACAGATAAACACACACAGACACACACACACTCACATATCCC... | CATATGTGTTACGATGCCTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCACAAAAGTCAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAATTCTGGAAGTTATTTACTGGGTCAGCCTGCAGACCTTCATGGTAAGTTCAGCATGCATTATGTCTGACTTACAGATAAACACACACAGACACACACACACTCACATATCCC... | pathogenic | 184,063 |
Does the chromosome 11 mutation at position 108252888 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', 'Hereditary_cancer-predisposing_syndrome'] | CTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCACAAAAGTCAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAATTCTGGAAGTTATTTACTGGGTCAGCCTGCAGACCTTCATGGTAAGTTCAGCATGCATTATGTCTGACTTACAGATAAACACACACAGACACACACACACTCACATATCCCTGATCATTTTCATAGTT... | CTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCACAAAAGTCAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAATTCTGGAAGTTATTTACTGGGTCAGCCTGCAGACCTTCATGGTAAGTTCAGCATGCATTATGTCTGACTTACAGATAAACACACACAGACACACACACACTCACATATCCCTGATCATTTTCATAGTT... | pathogenic | 184,066 |
For chromosome 11, position 108253816, 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'] | GTCCTGATAGATAAAGTCTTTGCCCCTCCAATAGCTTGCTTTTCACAATTGTCCTTTGTTTTGTTATAGTCCTGCAGTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTC... | GTCCTGATAGATAAAGTCTTTGCCCCTCCAATAGCTTGCTTTTCACAATTGTCCTTTGTTTTGTTATAGTCCTGCAGTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTC... | pathogenic | 184,087 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108253819 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGATAGATAAAGTCTTTGCCCCTCCAATAGCTTGCTTTTCACAATTGTCCTTTGTTTTGTTATAGTCCTGCAGTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCC... | CTGATAGATAAAGTCTTTGCCCCTCCAATAGCTTGCTTTTCACAATTGTCCTTTGTTTTGTTATAGTCCTGCAGTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCC... | pathogenic | 184,088 |
Considering the genetic mutation at chromosome 11, position 108253824, impacting ATM (ATM serine/threonine kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome'] | AGATAAAGTCTTTGCCCCTCCAATAGCTTGCTTTTCACAATTGTCCTTTGTTTTGTTATAGTCCTGCAGTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTA... | AGATAAAGTCTTTGCCCCTCCAATAGCTTGCTTTTCACAATTGTCCTTTGTTTTGTTATAGTCCTGCAGTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTA... | pathogenic | 184,090 |
Does the chromosome 11 mutation at position 108253828 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', 'Hereditary_cancer-predisposing_syndrome'] | AAAGTCTTTGCCCCTCCAATAGCTTGCTTTTCACAATTGTCCTTTGTTTTGTTATAGTCCTGCAGTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTG... | AAAGTCTTTGCCCCTCCAATAGCTTGCTTTTCACAATTGTCCTTTGTTTTGTTATAGTCCTGCAGTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTG... | pathogenic | 184,093 |
Chromosome 11, position 108253830, 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'] | AGTCTTTGCCCCTCCAATAGCTTGCTTTTCACAATTGTCCTTTGTTTTGTTATAGTCCTGCAGTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGAT... | AGTCTTTGCCCCTCCAATAGCTTGCTTTTCACAATTGTCCTTTGTTTTGTTATAGTCCTGCAGTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGAT... | pathogenic | 184,094 |
Assess the variant on chromosome 11, position 108253832, 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'] | TCTTTGCCCCTCCAATAGCTTGCTTTTCACAATTGTCCTTTGTTTTGTTATAGTCCTGCAGTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGC... | TCTTTGCCCCTCCAATAGCTTGCTTTTCACAATTGTCCTTTGTTTTGTTATAGTCCTGCAGTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGC... | pathogenic | 184,095 |
A genetic variant on chromosome 11, position 108253892, affects the gene ATM (ATM serine/threonine kinase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAA... | GTATGCTGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAA... | pathogenic | 184,117 |
The genetic variant at chromosome 11, position 108253898, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTA... | TGTTTGACTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTA... | pathogenic | 184,119 |
Is the genetic mutation found on chromosome 11 at position 108253905, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGT... | CTTTGGCACTGACCACCAGTATAGTTCCAGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGT... | pathogenic | 184,121 |
A genetic variant at chromosome 11, position 108253933, affecting gene ATM (ATM serine/threonine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCT... | AGGAACGGTAAAAATGGGAATAGAGCAAAATATGTGTGAAGTAAATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCT... | pathogenic | 184,126 |
Clinically, how would you classify the variant at chromosome 11, position 108253977, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGG... | ATAGAAGCTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGG... | pathogenic | 184,138 |
Variant at chromosome position 108254005, chromosome 11, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Malignant_tumor_of_breast'] | AATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAAT... | AATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAAT... | pathogenic | 184,148 |
Evaluate this variant at chromosome 11, position 108254026, 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'] | TCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTC... | TCAGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTC... | pathogenic | 184,153 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108254028, gene ATM (ATM serine/threonine kinase): what disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTCCT... | AGTTAGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTCCT... | pathogenic | 184,154 |
Variant in gene ATM (ATM serine/threonine kinase), located at chromosome 11 position 108254032: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTCCTTTCT... | AGAGGGTGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTCCTTTCT... | pathogenic | 184,158 |
Classify the chromosome 11 variant at position 108254038 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'] | TGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTCCTTTCTGATTTT... | TGACTTAGAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTCCTTTCTGATTTT... | pathogenic | 184,160 |
Variant chromosome 11, position 108254045, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | benign | GAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTCCTTTCTGATTTTTTAAATA... | GAAAATAGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTCCTTTCTGATTTTTTAAATA... | benign | 184,163 |
A genetic variant at chromosome 11, position 108254051, affecting gene ATM (ATM serine/threonine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTCCTTTCTGATTTTTTAAATAAGTAAG... | AGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTCCTTTCTGATTTTTTAAATAAGTAAG... | benign | 184,164 |
Is the genetic variant on chromosome 11, position 108254051, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTCCTTTCTGATTTTTTAAATAAGTAAG... | AGCACAGAAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATAATAATAATGCAGAATTTCCCAGATCTAACCTTAATTATTAAATATTATGTTTGTTTTTACAGTTATCTGTGTCTTTATGCCTGATTGCTTCTGAAATAAAGGGTTGTCTCACTGTGAGAATATGGGGGATGTGCATGAAAAATGCACATATAATTCTTTGAGCATTTATGTGTTCCTTTCTGATTTTTTAAATAAGTAAG... | benign | 184,165 |
Does the genetic variant at chromosome 11, position 108256208, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AAGTGGCAGTAAAGGGCTCTAAATTGGACAACTTAGCATAATTAAAGGAAAACTCAAGAATAATAATTTGAGTACTTCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCT... | AAGTGGCAGTAAAGGGCTCTAAATTGGACAACTTAGCATAATTAAAGGAAAACTCAAGAATAATAATTTGAGTACTTCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCT... | benign | 184,178 |
Clinically, how would you classify the variant at chromosome 11, position 108256214, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome'] | CAGTAAAGGGCTCTAAATTGGACAACTTAGCATAATTAAAGGAAAACTCAAGAATAATAATTTGAGTACTTCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAAT... | CAGTAAAGGGCTCTAAATTGGACAACTTAGCATAATTAAAGGAAAACTCAAGAATAATAATTTGAGTACTTCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAAT... | pathogenic | 184,182 |
Mutation at chromosome 11, position 108256227, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | TAAATTGGACAACTTAGCATAATTAAAGGAAAACTCAAGAATAATAATTTGAGTACTTCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAATTTCCTTTAGCCTC... | TAAATTGGACAACTTAGCATAATTAAAGGAAAACTCAAGAATAATAATTTGAGTACTTCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAATTTCCTTTAGCCTC... | pathogenic | 184,186 |
Does the variant on chromosome 11 at location 108256239 affecting gene ATM (ATM serine/threonine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTAGCATAATTAAAGGAAAACTCAAGAATAATAATTTGAGTACTTCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAATTTCCTTTAGCCTCAAAATCACGAGT... | CTTAGCATAATTAAAGGAAAACTCAAGAATAATAATTTGAGTACTTCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAATTTCCTTTAGCCTCAAAATCACGAGT... | pathogenic | 184,189 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.