question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Variant in gene ATM, located at chromosome 11 position 108332905: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTTCTCAGGAATCAAGATCACAGTCACACTCAGATCACATTTGTCTTCCTTAGATTTTTT... | ATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTTCTCAGGAATCAAGATCACAGTCACACTCAGATCACATTTGTCTTCCTTAGATTTTTT... | benign | 186,798 |
Is the genetic change at chromosome 11, position 108332905, within gene ATM benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTTCTCAGGAATCAAGATCACAGTCACACTCAGATCACATTTGTCTTCCTTAGATTTTTT... | ATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTTCTCAGGAATCAAGATCACAGTCACACTCAGATCACATTTGTCTTCCTTAGATTTTTT... | benign | 186,799 |
Variant at chromosome 11, position 108333885, gene ATM: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTGTTTATTTGCATAAATCTAATAGTTCTTTTCTTACAGCTAATCTCTAGAATTTCAATGGATCACCCCCATCACACTTTGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACG... | TTTTTGTTTATTTGCATAAATCTAATAGTTCTTTTCTTACAGCTAATCTCTAGAATTTCAATGGATCACCCCCATCACACTTTGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACG... | pathogenic | 186,812 |
Is the variant located on chromosome 11 at position 108333899, gene ATM, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATAAATCTAATAGTTCTTTTCTTACAGCTAATCTCTAGAATTTCAATGGATCACCCCCATCACACTTTGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTG... | CATAAATCTAATAGTTCTTTTCTTACAGCTAATCTCTAGAATTTCAATGGATCACCCCCATCACACTTTGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTG... | pathogenic | 186,814 |
Does the variant on chromosome 11 at location 108333921 affecting gene ATM have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTACAGCTAATCTCTAGAATTTCAATGGATCACCCCCATCACACTTTGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC... | TTACAGCTAATCTCTAGAATTTCAATGGATCACCCCCATCACACTTTGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC... | pathogenic | 186,819 |
Is the variant located on chromosome 11 at position 108333940, gene ATM, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTCAATGGATCACCCCCATCACACTTTGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTACTT... | TTTCAATGGATCACCCCCATCACACTTTGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTACTT... | pathogenic | 186,823 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108333955, gene ATM: what disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCCATCACACTTTGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTACTTGAGGTCAGAAGTTCG... | CCCATCACACTTTGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTACTTGAGGTCAGAAGTTCG... | pathogenic | 186,830 |
Is the variant located on chromosome 11 at position 108333967, gene ATM, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTACTTGAGGTCAGAAGTTCGAGACCATCCTGG... | TGTTTATTATACTGGCCTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTACTTGAGGTCAGAAGTTCGAGACCATCCTGG... | pathogenic | 186,831 |
Is the variant located on chromosome 11 at position 108333983, gene ATM, benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTACTTGAGGTCAGAAGTTCGAGACCATCCTGGCTGACCGACACAGCAA... | CTTAGCAAATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTACTTGAGGTCAGAAGTTCGAGACCATCCTGGCTGACCGACACAGCAA... | benign | 186,835 |
Gene ATM variant at chromosome position 108333990 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTACTTGAGGTCAGAAGTTCGAGACCATCCTGGCTGACCGACACAGCAAAACCCTG... | AATGCAAACAGAGATGAATTTCTGACTAAACCAGAGGTAGCCAGAAGAAGCAGAATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAGAAGTGTGATATTCAGTCTTTCCTAGAATATTTCTTTTTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTACTTGAGGTCAGAAGTTCGAGACCATCCTGGCTGACCGACACAGCAAAACCCTG... | benign | 186,837 |
Is chromosome 11, position 108334152, gene ATM variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTACTTGAGGTCAGAAGTTCGAGACCATCCTGGCTGACCGACACAGCAAAACCCTGTCTCTACTAAAAATGCAAAAAACAGCTGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCAAGGTTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAA... | TTAAAATCTTGTGTTATTAAGATGCCATCTAAAATCGGTTCAAGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTACTTGAGGTCAGAAGTTCGAGACCATCCTGGCTGACCGACACAGCAAAACCCTGTCTCTACTAAAAATGCAAAAAACAGCTGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCAAGGTTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAA... | benign | 186,838 |
Is chromosome 11, position 108334992, gene ATM 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', 'Malignant_tumor_of_breast'] | ACTCTCTGTAGAGATATATTAGTTATAGAGCCTAATAAGTAAATCTGCTTAAAATCACAAACGTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGAC... | ACTCTCTGTAGAGATATATTAGTTATAGAGCCTAATAAGTAAATCTGCTTAAAATCACAAACGTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGAC... | pathogenic | 186,855 |
A genetic variant at chromosome 11, position 108335000, affecting gene ATM—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAGAGATATATTAGTTATAGAGCCTAATAAGTAAATCTGCTTAAAATCACAAACGTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAAC... | TAGAGATATATTAGTTATAGAGCCTAATAAGTAAATCTGCTTAAAATCACAAACGTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAAC... | pathogenic | 186,856 |
Considering the variant on chromosome 11, location 108335006, involving gene ATM, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TATATTAGTTATAGAGCCTAATAAGTAAATCTGCTTAAAATCACAAACGTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAA... | TATATTAGTTATAGAGCCTAATAAGTAAATCTGCTTAAAATCACAAACGTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAA... | pathogenic | 186,859 |
A mutation at chromosome position 108335007 on chromosome 11 in gene ATM: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATATTAGTTATAGAGCCTAATAAGTAAATCTGCTTAAAATCACAAACGTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAA... | ATATTAGTTATAGAGCCTAATAAGTAAATCTGCTTAAAATCACAAACGTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAA... | pathogenic | 186,860 |
The chromosome 11, position 108335008 genetic variant in gene ATM: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATTAGTTATAGAGCCTAATAAGTAAATCTGCTTAAAATCACAAACGTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAG... | TATTAGTTATAGAGCCTAATAAGTAAATCTGCTTAAAATCACAAACGTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAG... | pathogenic | 186,861 |
Does the chromosome 11 mutation at position 108335033 within gene ATM classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATCTGCTTAAAATCACAAACGTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGC... | AATCTGCTTAAAATCACAAACGTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGC... | pathogenic | 186,864 |
Located at chromosome 11 position 108335054, the variant affecting gene ATM—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTA... | GTAATCCAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTA... | pathogenic | 186,871 |
Clinically, how would you classify the variant at chromosome 11, position 108335060, gene ATM: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTC... | CAAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTC... | pathogenic | 186,874 |
Does the variant impacting ATM on chromosome 11, position 108335061, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCT... | AAAAGCTTAATTTATATCTGATGGCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCT... | pathogenic | 186,875 |
Does the variant on chromosome 11 at location 108335084 affecting gene ATM have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCTTGCTGTGTCAGTTCAAATAATTA... | GCTTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCTTGCTGTGTCAGTTCAAATAATTA... | pathogenic | 186,886 |
Considering the variant on chromosome 11, location 108335086, involving gene ATM, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCTTGCTGTGTCAGTTCAAATAATTACA... | TTCAGCATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCTTGCTGTGTCAGTTCAAATAATTACA... | pathogenic | 186,888 |
Variant at chromosome position 108335091, chromosome 11, gene ATM: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCTTGCTGTGTCAGTTCAAATAATTACAAGCTG... | CATTCCCTGGTTACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCTTGCTGTGTCAGTTCAAATAATTACAAGCTG... | pathogenic | 186,892 |
Mutation at chromosome 11, position 108335103, within ATM: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCTTGCTGTGTCAGTTCAAATAATTACAAGCTGCTATATAATCTT... | ACTTTTTCACTTAATATCTCTTAATAGAACTGGTAATAGGTGACTACACTAAATTAATTATTTGATTTCTTCTGATAATCTTCTGGCATACATACTTATTACAGAGAATTGCATAATAGAGGCAAGTCTATTAAAATAATTGAATAACTGAACATTTCTAGCCTCAAAAGTTTTTTTAAACGATGTGGTTACTAAAACTGCCCTGGGACTTAAAAACAAAAAAAGGCTTTACCATTTCTTCCATAGGTGCTAAAATGCCATTATTTAATTATTATTCTTGCTGTGTCAGTTCAAATAATTACAAGCTGCTATATAATCTT... | pathogenic | 186,895 |
Located at chromosome 11 position 108335846, the variant affecting gene ATM—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGGCCAGTGGTATCTGCTGACTATTCCTGCTTGACCTTCAATGCTGTTCCTCAGTTTGTCACTAAAATCTCTTCATTTTTAAATACAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTT... | GGGCCAGTGGTATCTGCTGACTATTCCTGCTTGACCTTCAATGCTGTTCCTCAGTTTGTCACTAAAATCTCTTCATTTTTAAATACAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTT... | pathogenic | 186,913 |
Gene ATM variant at chromosome position 108335874 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GCTTGACCTTCAATGCTGTTCCTCAGTTTGTCACTAAAATCTCTTCATTTTTAAATACAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAA... | GCTTGACCTTCAATGCTGTTCCTCAGTTTGTCACTAAAATCTCTTCATTTTTAAATACAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAA... | pathogenic | 186,920 |
For chromosome 11, position 108335893, gene ATM: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCTCAGTTTGTCACTAAAATCTCTTCATTTTTAAATACAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTT... | TCCTCAGTTTGTCACTAAAATCTCTTCATTTTTAAATACAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTT... | pathogenic | 186,927 |
Gene mutation in ATM at chromosome 11, position 108335894—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CCTCAGTTTGTCACTAAAATCTCTTCATTTTTAAATACAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTT... | CCTCAGTTTGTCACTAAAATCTCTTCATTTTTAAATACAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTT... | pathogenic | 186,928 |
Does the variant on chromosome 11 at location 108335898 affecting gene ATM have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTTTGTCACTAAAATCTCTTCATTTTTAAATACAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCAT... | AGTTTGTCACTAAAATCTCTTCATTTTTAAATACAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCAT... | pathogenic | 186,930 |
Gene ATM variant at chromosome position 108335915 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTTCATTTTTAAATACAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACAC... | TCTTCATTTTTAAATACAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACAC... | pathogenic | 186,939 |
Is the genetic variant on chromosome 11, position 108335931, gene ATM, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTAT... | CAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTAT... | pathogenic | 186,943 |
Variant on chromosome 11, at position 108335940, affecting ATM: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTA... | TAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTA... | pathogenic | 186,945 |
Evaluate this variant at chromosome 11, position 108335941, gene ATM: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTAT... | AAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTAT... | pathogenic | 186,947 |
Variant on chromosome 11, at position 108335942, affecting ATM: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTATA... | AATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTATA... | pathogenic | 186,948 |
Is chromosome 11, position 108335945, gene ATM 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'] | ATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTATAGAC... | ATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTATAGAC... | pathogenic | 186,949 |
Variant at chromosome 11, position 108335956, gene ATM: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTATAGACTGTTACTTTCA... | CCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTATAGACTGTTACTTTCA... | pathogenic | 186,950 |
Variant chromosome 11, position 108335956, gene ATM: benign or pathogenic? Disease(s)? | pathogenic; ['ATM-related_cancer_predisposition', 'ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTATAGACTGTTACTTTCA... | CCAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTATAGACTGTTACTTTCA... | pathogenic | 186,951 |
Gene ATM variant at chromosome position 108335957 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTATAGACTGTTACTTTCAT... | CAGCCAATTACTAAACTTAAGAATTTAGAAGATGTTGTTGTCCCTACTATGGAAATTAAGGTAATTTGCAATTAACTCTTGATTTTTTTTAAACTAAATTTTTTTTATTAGATTGAACCATTTGAAATAGTATTTTTATGTAGGTCAAAATTGGTTAAATATTGGCAAATTTCATATGTTTCAACCTATAATTTCTCAGTATTATATTTCCTTTGCCCAAGCCCTAAAATACTCAAAAGCTTCTCCTGCTTTCTTTTCCATTGCCTTCTGTTCTACACCTCCCATCTTTCTTATGAAGGTCTATAGACTGTTACTTTCAT... | pathogenic | 186,952 |
Clinically, how would you classify the variant at chromosome 11, position 108343220, gene ATM: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGTCTTTTGCAATTGCTTAGACACACCAATTTGTTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTG... | TGGTCTTTTGCAATTGCTTAGACACACCAATTTGTTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTG... | pathogenic | 186,976 |
The chromosome 11, position 108343230 genetic variant in gene ATM: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAATTGCTTAGACACACCAATTTGTTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCT... | CAATTGCTTAGACACACCAATTTGTTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCT... | pathogenic | 186,981 |
Gene mutation in ATM at chromosome 11, position 108343230—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CAATTGCTTAGACACACCAATTTGTTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCT... | CAATTGCTTAGACACACCAATTTGTTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCT... | pathogenic | 186,982 |
Is the chromosome 11, position 108343240 variant in ATM clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | GACACACCAATTTGTTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACA... | GACACACCAATTTGTTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACA... | pathogenic | 186,985 |
A mutation at chromosome position 108343243 on chromosome 11 in gene ATM: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast'] | ACACCAATTTGTTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGT... | ACACCAATTTGTTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGT... | pathogenic | 186,986 |
Is the genetic mutation found on chromosome 11 at position 108343243, within the gene ATM, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACACCAATTTGTTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGT... | ACACCAATTTGTTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGT... | pathogenic | 186,987 |
The mutation impacting ATM on chromosome 11 at position 108343254: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCC... | TTTCTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCC... | pathogenic | 186,992 |
A mutation at chromosome position 108343257 on chromosome 11 in gene ATM: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAAC... | CTGCCTCAGGGCTTTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAAC... | pathogenic | 186,994 |
Determine whether the variant at chromosome 11, position 108343270, in gene ATM is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAA... | TTTCTGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAA... | pathogenic | 186,997 |
Does the variant on chromosome 11 at location 108343274 affecting gene ATM have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAA... | TGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAA... | pathogenic | 186,999 |
Considering the variant on chromosome 11, location 108343274, involving gene ATM, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAA... | TGCTTCTGCCTGCAATGCTTTTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAA... | pathogenic | 187,000 |
Evaluate if the mutation on chromosome 11 at position 108343294 in ATM is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAA... | TTCCCTCAGATCTTCACACCAGTCACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAA... | pathogenic | 187,002 |
Mutation at chromosome 11, position 108343317, within ATM: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATG... | CACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATG... | pathogenic | 187,006 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108343317, gene ATM: what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATG... | CACTCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATG... | pathogenic | 187,007 |
Variant in ATM, chromosome 11, position 108343320—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGA... | TCCCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGA... | pathogenic | 187,009 |
Evaluate if the mutation on chromosome 11 at position 108343322 in ATM is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGA... | CCTTACTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGA... | pathogenic | 187,010 |
Variant chromosome 11, position 108343327, gene ATM: benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTT... | CTTCATTCAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTT... | pathogenic | 187,014 |
Evaluate if the mutation on chromosome 11 at position 108343334 in ATM is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTT... | CAGGCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTT... | pathogenic | 187,015 |
Clinically, how would you classify the variant at chromosome 11, position 108343337, gene ATM: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAA... | GCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAA... | pathogenic | 187,017 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108343337, gene ATM. What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAA... | GCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAA... | pathogenic | 187,018 |
Is the genetic variant on chromosome 11, position 108343337, gene ATM, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['ATM-related_cancer_predisposition', 'ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Breast_carcinoma', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | GCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAA... | GCTTCTGCTGCAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAA... | pathogenic | 187,019 |
Is the genetic variant on chromosome 11, position 108343347, gene ATM, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Breast_cancer,_susceptibility_to', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAAAATGTATAGA... | CAGTGTTACCCTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAAAATGTATAGA... | pathogenic | 187,022 |
Determine if the mutation at chromosome 11, position 108343357 in gene ATM is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAAAATGTATAGAACTAAAGACA... | CTCAGAAAGGCCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAAAATGTATAGAACTAAAGACA... | pathogenic | 187,027 |
The chromosome 11, position 108343367 genetic variant in gene ATM: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAAAATGTATAGAACTAAAGACACCATAAGGAC... | CCTCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAAAATGTATAGAACTAAAGACACCATAAGGAC... | pathogenic | 187,029 |
Variant in gene ATM, located at chromosome 11 position 108343369: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAAAATGTATAGAACTAAAGACACCATAAGGACGA... | TCCGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAAAATGTATAGAACTAAAGACACCATAAGGACGA... | pathogenic | 187,030 |
Variant in gene ATM, located at chromosome 11 position 108343371: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Breast_and/or_ovarian_cancer', 'Breast_cancer,_susceptibility_to', 'Carcinoma_of_colon', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAAAATGTATAGAACTAAAGACACCATAAGGACGAGT... | CGACCATGTTGCCATTACCCACTTTCTCTCTTTTTTAAACTTAAGTTTTGTTCTCTTATACTTATTATCTAATATTATGAAATGTTTATTAGGATATATGTTCCTCACCAGAATGAAACTTTATGAGGGCATAGTCTTCATCTGCCTTTTTCCCACTCTGTTCTCAGTGCCCTAGCCCTGTGTGTAACATGTAATACGCCCCCAACAAATAAATGTTAATAAATTAATCAAATGCTTCCTTAAGACACAAAACAGTTCAACATATGTGAGAAACTTAAAATTTAAAAATGTATAGAACTAAAGACACCATAAGGACGAGT... | pathogenic | 187,032 |
Gene ATM variant at chromosome 11, position 108345720—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CACGATGGCATGCACCTGTAATCCCAGCTACTTGAGAGGCTGAGTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACT... | CACGATGGCATGCACCTGTAATCCCAGCTACTTGAGAGGCTGAGTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACT... | benign | 187,045 |
Regarding the variant at chromosome 11 and position 108345749, affecting gene ATM: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTTGAGAGGCTGAGTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAA... | ACTTGAGAGGCTGAGTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAA... | pathogenic | 187,059 |
Chromosome 11, position 108345749, gene ATM: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | ACTTGAGAGGCTGAGTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAA... | ACTTGAGAGGCTGAGTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAA... | pathogenic | 187,061 |
Variant at chromosome position 108345749, chromosome 11, gene ATM: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTTGAGAGGCTGAGTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAA... | ACTTGAGAGGCTGAGTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAA... | pathogenic | 187,062 |
Regarding the variant found on chromosome 11 at position 108345757 in gene ATM: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGCTGAGTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAA... | GGCTGAGTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAA... | pathogenic | 187,066 |
Gene ATM variant at chromosome position 108345759 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGAGTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGT... | CTGAGTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGT... | pathogenic | 187,067 |
Is the genetic change at chromosome 11, position 108345763, within gene ATM benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAG... | GTCTGGGGGATCCCTTGAACCCAGGATTTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAG... | pathogenic | 187,068 |
The genetic variant at chromosome 11, position 108345790, affecting gene ATM: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAA... | TTTGAGGCCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAA... | pathogenic | 187,077 |
Variant at chromosome position 108345797, chromosome 11, gene ATM: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAG... | CCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAG... | pathogenic | 187,081 |
Does the chromosome 11 mutation at position 108345797 within gene ATM classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAG... | CCAGCCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAG... | pathogenic | 187,082 |
Is the genetic mutation found on chromosome 11 at position 108345801, within the gene ATM, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCA... | CCTGGGCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCA... | pathogenic | 187,085 |
Is the genetic mutation found on chromosome 11 at position 108345806, within the gene ATM, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGAT... | GCAACAGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGAT... | pathogenic | 187,089 |
Determine if the mutation at chromosome 11, position 108345811 in gene ATM is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['ATM-related_cancer_predisposition'] | AGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAG... | AGAGCAAGACCCCATCTCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAG... | pathogenic | 187,090 |
Considering the genetic mutation at chromosome 11, position 108345827, impacting ATM: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAA... | TCTAAAAAACAAACACAGTAAACAACAACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAA... | pathogenic | 187,096 |
Is the variant located on chromosome 11 at position 108345854, gene ATM, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAAAATCCATTTATTGTTCATTTTATTGTG... | ACAACAACAAGATTATGAAGTAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAAAATCCATTTATTGTTCATTTTATTGTG... | pathogenic | 187,100 |
Is the genetic variant on chromosome 11, position 108345874, gene ATM, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAAAATCCATTTATTGTTCATTTTATTGTGCTTTCTGTGACATGTTTTTT... | TAATTTTTTATGAAACTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAAAATCCATTTATTGTTCATTTTATTGTGCTTTCTGTGACATGTTTTTT... | pathogenic | 187,110 |
Chromosome 11, position 108345889, gene ATM: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | CTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAAAATCCATTTATTGTTCATTTTATTGTGCTTTCTGTGACATGTTTTTTAAAATGTGTGATAAG... | CTGATATAGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAAAATCCATTTATTGTTCATTTTATTGTGCTTTCTGTGACATGTTTTTTAAAATGTGTGATAAG... | pathogenic | 187,117 |
Does the variant impacting ATM on chromosome 11, position 108345896, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAAAATCCATTTATTGTTCATTTTATTGTGCTTTCTGTGACATGTTTTTTAAAATGTGTGATAAGTGCTATA... | AGAAAACCTTCTGAGACATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAAAATCCATTTATTGTTCATTTTATTGTGCTTTCTGTGACATGTTTTTTAAAATGTGTGATAAGTGCTATA... | pathogenic | 187,120 |
Does the genetic variant at chromosome 11, position 108345912, impacting gene ATM, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAAAATCCATTTATTGTTCATTTTATTGTGCTTTCTGTGACATGTTTTTTAAAATGTGTGATAAGTGCTATAGGTGTTGTGATGGAAG... | CATTTACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAAAATCCATTTATTGTTCATTTTATTGTGCTTTCTGTGACATGTTTTTTAAAATGTGTGATAAGTGCTATAGGTGTTGTGATGGAAG... | benign | 187,126 |
Mutation found at chromosome 11 position 108345916, gene ATM: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAAAATCCATTTATTGTTCATTTTATTGTGCTTTCTGTGACATGTTTTTTAAAATGTGTGATAAGTGCTATAGGTGTTGTGATGGAAGTCTG... | TACAATGTCACATTGGCCATCTAGTCTGATATTCATTCGCTGAATCAGCAACATTTATTGTATGTTTTCTGTCTACCAGGTACTGTGCTGACTTAAGACTTCACAAATATCAAATATTACGACTAATCATCATAATCCTTATCCTCATTTTAAAATGAGAAGTTCAGAGAACTTGCCCAAGGCCAGTGAGCTAATAAACAGAGCAAGGATTTGAGCCTTGTCTAAATCCAAAATCCATTTATTGTTCATTTTATTGTGCTTTCTGTGACATGTTTTTTAAAATGTGTGATAAGTGCTATAGGTGTTGTGATGGAAGTCTG... | benign | 187,129 |
Gene mutation in ATM at chromosome 11, position 108347255—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AAGCTTAATAAAGATATCTGGGCCAAACAGATTTAGAAATCATCAGCACATAGATGGAAGGGAGTTGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTA... | AAGCTTAATAAAGATATCTGGGCCAAACAGATTTAGAAATCATCAGCACATAGATGGAAGGGAGTTGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTA... | benign | 187,133 |
Chromosome 11, position 108347263, gene ATM: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast'] | TAAAGATATCTGGGCCAAACAGATTTAGAAATCATCAGCACATAGATGGAAGGGAGTTGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCT... | TAAAGATATCTGGGCCAAACAGATTTAGAAATCATCAGCACATAGATGGAAGGGAGTTGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCT... | pathogenic | 187,137 |
Considering the variant on chromosome 11, location 108347278, involving gene ATM, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ataxia-telangiectasia_syndrome'] | CAAACAGATTTAGAAATCATCAGCACATAGATGGAAGGGAGTTGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAAT... | CAAACAGATTTAGAAATCATCAGCACATAGATGGAAGGGAGTTGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAAT... | pathogenic | 187,146 |
Is the variant located on chromosome 11 at position 108347308, gene ATM, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGGAAGGGAGTTGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACT... | ATGGAAGGGAGTTGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACT... | pathogenic | 187,153 |
A genetic variant on chromosome 11, position 108347316, affects the gene ATM. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAGTTGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTA... | GAGTTGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTA... | pathogenic | 187,156 |
Assess the variant on chromosome 11, position 108347316, impacting ATM: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAGTTGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTA... | GAGTTGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTA... | pathogenic | 187,157 |
The genetic variant at chromosome 11, position 108347320, affecting gene ATM: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTAATTG... | TGAAGTCGGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTAATTG... | pathogenic | 187,158 |
Clinical classification of chromosome 11, position 108347327, gene ATM: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['ATM-related_disorder', 'Hereditary_cancer-predisposing_syndrome'] | GGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTAATTGCTTCCCT... | GGTAAGCTTTGCTTCAGGTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTAATTGCTTCCCT... | pathogenic | 187,162 |
Is the genetic mutation found on chromosome 11 at position 108347344, within the gene ATM, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTAATTGCTTCCCTGTCCAGACTGTTAGCTT... | GTAGTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTAATTGCTTCCCTGTCCAGACTGTTAGCTT... | pathogenic | 187,166 |
Is the genetic variant on chromosome 11, position 108347347, gene ATM, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | GTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTAATTGCTTCCCTGTCCAGACTGTTAGCTTCTT... | GTATTTTATGGCAAGAAGATGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTAATTGCTTCCCTGTCCAGACTGTTAGCTTCTT... | pathogenic | 187,167 |
Variant at chromosome position 108347366, chromosome 11, gene ATM: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTAATTGCTTCCCTGTCCAGACTGTTAGCTTCTTGTAGGTAATGTATCCTGTT... | TGTTGGAGGATAGAGATCTGAGTCATATCAGCTGCCATCTATGAGGGATTCTTCTGTTCTTTCTCTTTTCCTGTTTTCTATTGCAACCCAATGCTGTGATGCCACCTGAGGTTATCTGGAACTACTTAGGCATTTCTGTGTTTATTTCTGCTTAAGAGTACAGGATTATTCAAATTAGAATTTAATCAAAACAAGTAACAGTCACTGTAGGTGTGCTTCCTCCCCCAACAATTAATATGGAAATCCTAAAGGGATTATCACTTGTAATTAATTGCTTCCCTGTCCAGACTGTTAGCTTCTTGTAGGTAATGTATCCTGTT... | pathogenic | 187,175 |
Evaluate if the mutation on chromosome 11 at position 108353764 in ATM is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCACAGTATCACTTCCATCACATTATGTCATCACATAGTCATGTCATAGGGTCCATCCTGGTTCTTCCCTGTTTCTGGGACTCCAGTAACCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTG... | TGCACAGTATCACTTCCATCACATTATGTCATCACATAGTCATGTCATAGGGTCCATCCTGGTTCTTCCCTGTTTCTGGGACTCCAGTAACCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTG... | pathogenic | 187,188 |
Variant in gene ATM, located at chromosome 11 position 108353768: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGTATCACTTCCATCACATTATGTCATCACATAGTCATGTCATAGGGTCCATCCTGGTTCTTCCCTGTTTCTGGGACTCCAGTAACCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTC... | CAGTATCACTTCCATCACATTATGTCATCACATAGTCATGTCATAGGGTCCATCCTGGTTCTTCCCTGTTTCTGGGACTCCAGTAACCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTC... | pathogenic | 187,191 |
Variant at chromosome 11, position 108353772, gene ATM: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATCACTTCCATCACATTATGTCATCACATAGTCATGTCATAGGGTCCATCCTGGTTCTTCCCTGTTTCTGGGACTCCAGTAACCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAA... | ATCACTTCCATCACATTATGTCATCACATAGTCATGTCATAGGGTCCATCCTGGTTCTTCCCTGTTTCTGGGACTCCAGTAACCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAA... | pathogenic | 187,193 |
Mutation at chromosome 11, position 108353785, within ATM: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATTATGTCATCACATAGTCATGTCATAGGGTCCATCCTGGTTCTTCCCTGTTTCTGGGACTCCAGTAACCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGC... | CATTATGTCATCACATAGTCATGTCATAGGGTCCATCCTGGTTCTTCCCTGTTTCTGGGACTCCAGTAACCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGC... | pathogenic | 187,197 |
Is the chromosome 11, position 108353785 variant in ATM clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic | CATTATGTCATCACATAGTCATGTCATAGGGTCCATCCTGGTTCTTCCCTGTTTCTGGGACTCCAGTAACCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGC... | CATTATGTCATCACATAGTCATGTCATAGGGTCCATCCTGGTTCTTCCCTGTTTCTGGGACTCCAGTAACCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGC... | pathogenic | 187,198 |
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