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 |
|---|---|---|---|---|---|
Does the variant on chromosome 11 at location 108312420 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'] | GGGTATATAGTAAAGATTTATTTTGCCTCCTGTTCCCCATTTAAAAGATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAA... | GGGTATATAGTAAAGATTTATTTTGCCTCCTGTTCCCCATTTAAAAGATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAA... | pathogenic | 185,932 |
A genetic variant on chromosome 11, position 108312448, affects the gene ATM. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTGTTCCCCATTTAAAAGATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGG... | CCTGTTCCCCATTTAAAAGATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGG... | pathogenic | 185,941 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108312463, gene ATM: what disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AAAGATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAA... | AAAGATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAA... | pathogenic | 185,947 |
Is the variant located on chromosome 11 at position 108312463, gene ATM, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAGATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAA... | AAAGATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAA... | pathogenic | 185,949 |
A genetic variant at chromosome 11, position 108312466, affecting gene ATM—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['ATM-related_cancer_predisposition', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAAAAT... | GATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAAAAT... | pathogenic | 185,950 |
Variant at chromosome 11, position 108312467, 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'] | ATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAAAATT... | ATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAAAATT... | pathogenic | 185,951 |
Gene ATM variant at chromosome position 108312471 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAAAATTATAA... | TTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAAAATTATAA... | pathogenic | 185,953 |
A genetic variant at chromosome 11, position 108312471, 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'] | TTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAAAATTATAA... | TTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAAAATTATAA... | pathogenic | 185,954 |
Located at chromosome 11 position 108312482, 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'] | ATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAAAATTATAATCCAAAATGGC... | ATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAAAATTATAATCCAAAATGGC... | pathogenic | 185,957 |
Is chromosome 11, position 108312483, gene ATM variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAAAATTATAATCCAAAATGGCT... | TTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGATTAGATTTACCACTAATTTCTAAACTATTCAAGATTCATTTTGGATATAAAATATCCAAAATTATAATCCAAAATGGCT... | pathogenic | 185,959 |
Does the genetic variant at chromosome 11, position 108315821, impacting gene ATM, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATAAATGAATTTGTGTGTAGAAAATATTTCACAGAGCAAGCACCATATAGGCAGTTCAATTGCTTGATCAATTTTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTA... | ATAAATGAATTTGTGTGTAGAAAATATTTCACAGAGCAAGCACCATATAGGCAGTTCAATTGCTTGATCAATTTTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTA... | pathogenic | 185,980 |
Is the genetic mutation found on chromosome 11 at position 108315829, 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'] | ATTTGTGTGTAGAAAATATTTCACAGAGCAAGCACCATATAGGCAGTTCAATTGCTTGATCAATTTTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTA... | ATTTGTGTGTAGAAAATATTTCACAGAGCAAGCACCATATAGGCAGTTCAATTGCTTGATCAATTTTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTA... | pathogenic | 185,984 |
A genetic alteration at chromosome 11, position 108315830, in gene ATM—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTGTGTGTAGAAAATATTTCACAGAGCAAGCACCATATAGGCAGTTCAATTGCTTGATCAATTTTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTAT... | TTTGTGTGTAGAAAATATTTCACAGAGCAAGCACCATATAGGCAGTTCAATTGCTTGATCAATTTTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTAT... | pathogenic | 185,985 |
Does the variant impacting ATM on chromosome 11, position 108315844, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATATTTCACAGAGCAAGCACCATATAGGCAGTTCAATTGCTTGATCAATTTTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAG... | ATATTTCACAGAGCAAGCACCATATAGGCAGTTCAATTGCTTGATCAATTTTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAG... | pathogenic | 185,992 |
Variant chromosome 11, position 108315863, gene ATM: benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCATATAGGCAGTTCAATTGCTTGATCAATTTTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCC... | CCATATAGGCAGTTCAATTGCTTGATCAATTTTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCC... | pathogenic | 185,996 |
For chromosome 11, position 108315864, 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'] | CATATAGGCAGTTCAATTGCTTGATCAATTTTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCA... | CATATAGGCAGTTCAATTGCTTGATCAATTTTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCA... | pathogenic | 185,998 |
Clinically, how would you classify the variant at chromosome 11, position 108315894, gene ATM: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGG... | TTCTATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGG... | pathogenic | 186,003 |
A genetic alteration at chromosome 11, position 108315897, in gene ATM—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGT... | TATGCAGTATAGTTCCTAGTTTTTTCTATTTTATTTTTTTTATGTTTTCATTTTTATTTAACTGAGATTGTTTTAAACAGAATATATCTTTTCTGTGTAAATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGT... | pathogenic | 186,004 |
Gene mutation in ATM at chromosome 11, position 108315997—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Breast_and/or_ovarian_cancer', 'Carcinoma_of_pancreas', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCA... | ATTTTACAACAAAGATTTCAGTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCA... | pathogenic | 186,022 |
Located at chromosome 11 position 108316017, 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'] | GTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTG... | GTAACCAAACTACTTTATCCATATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTG... | pathogenic | 186,031 |
Evaluate if the mutation on chromosome 11 at position 108316039 in ATM is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTT... | ATCAAATTTTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTT... | pathogenic | 186,038 |
A mutation at chromosome position 108316047 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'] | TTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGC... | TTACCAATTCCAATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGC... | pathogenic | 186,041 |
A genetic variant on chromosome 11, position 108316058, affects the gene ATM. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAAT... | AATACAGTTTTGTGCTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAAT... | pathogenic | 186,045 |
The mutation impacting ATM on chromosome 11 at position 108316072: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAATTCCTGAGCTCAAGC... | CTATTTTTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAATTCCTGAGCTCAAGC... | pathogenic | 186,051 |
Regarding the variant at chromosome 11 and position 108316078, affecting gene ATM: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAATTCCTGAGCTCAAGCAGTCTG... | TTCAAAGAAAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAATTCCTGAGCTCAAGCAGTCTG... | pathogenic | 186,052 |
The mutation in gene ATM at chromosome 11, position 108316086—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAATTCCTGAGCTCAAGCAGTCTGCCTGCCTT... | AAAATCCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAATTCCTGAGCTCAAGCAGTCTGCCTGCCTT... | pathogenic | 186,056 |
Located at chromosome 11 position 108316091, the variant affecting gene ATM—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAATTCCTGAGCTCAAGCAGTCTGCCTGCCTTGGCTA... | CCACGACCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAATTCCTGAGCTCAAGCAGTCTGCCTGCCTTGGCTA... | pathogenic | 186,058 |
Mutation found at chromosome 11 position 108316097, gene ATM: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAATTCCTGAGCTCAAGCAGTCTGCCTGCCTTGGCTACCCAAA... | CCTTTATTCTTACCAAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAATTCCTGAGCTCAAGCAGTCTGCCTGCCTTGGCTACCCAAA... | pathogenic | 186,061 |
Variant chromosome 11, position 108316111, gene ATM: benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAATTCCTGAGCTCAAGCAGTCTGCCTGCCTTGGCTACCCAAAGTACTGGGATTAAA... | AAATTGAGTTTTCAAGAGTCAGACTTTGTAGGACTGTATTTTCTAATGTACAGTTTTTTTGTTTTTTTTTCCAGACAGGATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAACACACTGCAAGCTCTGCCTCCCAGGCTCAAGCCATCCTCCAACCTCAGCCTCACAAGTAGCTGGGACTACAGGCATGCCCCACCATCTCCAGCTAATTTTTGTAGAGATGGGTTTAGCCATGTTGCCCAGGCCGATCTTGAATTCCTGAGCTCAAGCAGTCTGCCTGCCTTGGCTACCCAAAGTACTGGGATTAAA... | pathogenic | 186,065 |
Is chromosome 11, position 108317348, gene ATM variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TAATACTGCATCTTTACATTTGTTTATATTTGTCTTAACCACAAATAATGCTGTGTACAGTGTGTGTGTGTAAGTTTTGATAAATTTTAACTCTTTGTAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCA... | TAATACTGCATCTTTACATTTGTTTATATTTGTCTTAACCACAAATAATGCTGTGTACAGTGTGTGTGTGTAAGTTTTGATAAATTTTAACTCTTTGTAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCA... | benign | 186,073 |
Chromosome 11, position 108317348, gene ATM: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TAATACTGCATCTTTACATTTGTTTATATTTGTCTTAACCACAAATAATGCTGTGTACAGTGTGTGTGTGTAAGTTTTGATAAATTTTAACTCTTTGTAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCA... | TAATACTGCATCTTTACATTTGTTTATATTTGTCTTAACCACAAATAATGCTGTGTACAGTGTGTGTGTGTAAGTTTTGATAAATTTTAACTCTTTGTAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCA... | benign | 186,074 |
Regarding the variant at chromosome 11 and position 108317354, affecting gene ATM: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TGCATCTTTACATTTGTTTATATTTGTCTTAACCACAAATAATGCTGTGTACAGTGTGTGTGTGTAAGTTTTGATAAATTTTAACTCTTTGTAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATA... | TGCATCTTTACATTTGTTTATATTTGTCTTAACCACAAATAATGCTGTGTACAGTGTGTGTGTGTAAGTTTTGATAAATTTTAACTCTTTGTAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATA... | benign | 186,075 |
Evaluate this variant at chromosome 11, position 108317386, gene ATM: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast'] | CCACAAATAATGCTGTGTACAGTGTGTGTGTGTAAGTTTTGATAAATTTTAACTCTTTGTAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTT... | CCACAAATAATGCTGTGTACAGTGTGTGTGTGTAAGTTTTGATAAATTTTAACTCTTTGTAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTT... | pathogenic | 186,087 |
For chromosome 11, position 108317400, gene ATM: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Breast_cancer,_susceptibility_to', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTGTACAGTGTGTGTGTGTAAGTTTTGATAAATTTTAACTCTTTGTAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCA... | GTGTACAGTGTGTGTGTGTAAGTTTTGATAAATTTTAACTCTTTGTAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCA... | pathogenic | 186,091 |
Is chromosome 11, position 108317411, gene ATM variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGTGTGTAAGTTTTGATAAATTTTAACTCTTTGTAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTT... | GTGTGTGTAAGTTTTGATAAATTTTAACTCTTTGTAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTT... | pathogenic | 186,093 |
Variant chromosome 11, position 108317445, gene ATM: benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACA... | TAATAGATTTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACA... | pathogenic | 186,101 |
For chromosome 11, position 108317453, 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'] | TTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACATTTAGAGT... | TTGTGTATATTTTATGGTAGTAAATGATGAAATGTATCATATCAAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACATTTAGAGT... | pathogenic | 186,106 |
Evaluate this variant at chromosome 11, position 108317496, gene ATM: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACATTTAGAGTTGGGAGTTACATATTGGTAATGATACAATTTAAAATTTGCTAA... | AAATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACATTTAGAGTTGGGAGTTACATATTGGTAATGATACAATTTAAAATTTGCTAA... | pathogenic | 186,117 |
Is the chromosome 11, position 108317498 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'] | ATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACATTTAGAGTTGGGAGTTACATATTGGTAATGATACAATTTAAAATTTGCTAAAT... | ATGTATACAAATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACATTTAGAGTTGGGAGTTACATATTGGTAATGATACAATTTAAAATTTGCTAAAT... | pathogenic | 186,120 |
A genetic alteration at chromosome 11, position 108317508, in gene ATM—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACATTTAGAGTTGGGAGTTACATATTGGTAATGATACAATTTAAAATTTGCTAAATTTATAGACCG... | ATGATGGAATGTGTAGACTAGTTGTACATTTATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACATTTAGAGTTGGGAGTTACATATTGGTAATGATACAATTTAAAATTTGCTAAATTTATAGACCG... | pathogenic | 186,125 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108317539, gene ATM. What disease(s) is it linked to if pathogenic? | benign | ATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACATTTAGAGTTGGGAGTTACATATTGGTAATGATACAATTTAAAATTTGCTAAATTTATAGACCGATTTTTTTTCCTTCTTCAATTTTTGTTGTTT... | ATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACATTTAGAGTTGGGAGTTACATATTGGTAATGATACAATTTAAAATTTGCTAAATTTATAGACCGATTTTTTTTCCTTCTTCAATTTTTGTTGTTT... | benign | 186,130 |
Clinical classification of chromosome 11, position 108317539, gene ATM: benign or pathogenic? Disease(s) if pathogenic? | benign | ATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACATTTAGAGTTGGGAGTTACATATTGGTAATGATACAATTTAAAATTTGCTAAATTTATAGACCGATTTTTTTTCCTTCTTCAATTTTTGTTGTTT... | ATTTTATGCATTCATGACATAACTTTTAAAAAATTTTTCAGTAGTTCTAAACTGTGTGGTTTGTGAATTTTTTCAAATTGTGGCAAACCTCCAAAAAGTTTTCAATATATTTATTGAAAAAAAAATCCACATATAAGTTGTCCTGCACAGTTCAAACTCGTGTTGTTTGAACTGTATTTCAGAACTGTATTTCAGAATCATTACATTTTATTTCTATAACATAACATTTAGAGTTGGGAGTTACATATTGGTAATGATACAATTTAAAATTTGCTAAATTTATAGACCGATTTTTTTTCCTTCTTCAATTTTTGTTGTTT... | benign | 186,131 |
A genetic variant at chromosome 11, position 108318963, affecting gene ATM—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACTCCATCTCAAAAATAAATAAATAAATAAATTTTAGAGATAAGGTGTCACCCTGTTACTGATGCTGGAGTGCATTAGCGTGATCATAGTTCACTGCAGCCTTGACCTCCCTGGCTCAAGGGCACCTCTCGCTTCAGCCACCCAAGTAGCTGGGGCTACAGGTACACACTACCATACCCAGCTATTTTAAAAAAAAAAAAAAATTGTAGAGACAGGTCTTGGTTTGTTGTCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACACCC... | GACTCCATCTCAAAAATAAATAAATAAATAAATTTTAGAGATAAGGTGTCACCCTGTTACTGATGCTGGAGTGCATTAGCGTGATCATAGTTCACTGCAGCCTTGACCTCCCTGGCTCAAGGGCACCTCTCGCTTCAGCCACCCAAGTAGCTGGGGCTACAGGTACACACTACCATACCCAGCTATTTTAAAAAAAAAAAAAAATTGTAGAGACAGGTCTTGGTTTGTTGTCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACACCC... | pathogenic | 186,136 |
Gene mutation in ATM at chromosome 11, position 108319928—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | ATGAAAAGGGTTTTCGAAATGAGTATCATCTCGCATAGTTTGTTGGACTGAGGCATGCCAAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACT... | ATGAAAAGGGTTTTCGAAATGAGTATCATCTCGCATAGTTTGTTGGACTGAGGCATGCCAAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACT... | benign | 186,138 |
Variant chromosome 11, position 108319937, gene ATM: benign or pathogenic? Disease(s)? | benign | GTTTTCGAAATGAGTATCATCTCGCATAGTTTGTTGGACTGAGGCATGCCAAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAA... | GTTTTCGAAATGAGTATCATCTCGCATAGTTTGTTGGACTGAGGCATGCCAAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAA... | benign | 186,141 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108319957 in gene ATM: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCGCATAGTTTGTTGGACTGAGGCATGCCAAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCA... | CTCGCATAGTTTGTTGGACTGAGGCATGCCAAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCA... | pathogenic | 186,147 |
Does the variant impacting ATM on chromosome 11, position 108319969, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTGGACTGAGGCATGCCAAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGT... | GTTGGACTGAGGCATGCCAAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGT... | pathogenic | 186,151 |
Determine whether the variant at chromosome 11, position 108319974, in gene ATM is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Hereditary_cancer-predisposing_syndrome'] | ACTGAGGCATGCCAAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCC... | ACTGAGGCATGCCAAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCC... | pathogenic | 186,153 |
Is chromosome 11, position 108319977, 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'] | GAGGCATGCCAAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAG... | GAGGCATGCCAAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAG... | pathogenic | 186,154 |
Is the chromosome 11, position 108319987 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'] | AAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGA... | AAGAAAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGA... | pathogenic | 186,159 |
Does the variant impacting ATM on chromosome 11, position 108319991, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast'] | AAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCT... | AAAGTATAGGCATTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCT... | pathogenic | 186,162 |
Clinical significance of chromosome 11, position 108320003, gene ATM: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAA... | TTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAA... | pathogenic | 186,169 |
Classify the chromosome 11 variant at position 108320003 affecting gene ATM as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAA... | TTCCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAA... | pathogenic | 186,171 |
Variant at chromosome position 108320005, chromosome 11, gene ATM: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATT... | CCTCTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATT... | pathogenic | 186,173 |
For chromosome 11, position 108320008, gene ATM: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCT... | CTTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCT... | pathogenic | 186,174 |
The chromosome 11, position 108320009 genetic variant in gene ATM: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome'] | TTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCTA... | TTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCTA... | pathogenic | 186,175 |
Classify the chromosome 11 variant at position 108320009 affecting gene ATM as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCTA... | TTTCTACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCTA... | pathogenic | 186,176 |
The mutation in gene ATM at chromosome 11, position 108320013—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCTAGAAC... | TACTTCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCTAGAAC... | pathogenic | 186,178 |
Does the variant impacting ATM on chromosome 11, position 108320017, 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', 'likely other unspecified diseases'] | TCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCTAGAACACGG... | TCCTGCTACAAACATTTTAGTCAGTAAGATAGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCTAGAACACGG... | pathogenic | 186,180 |
For chromosome 11, position 108320047, 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'] | AGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCTAGAACACGGGAGACGGAGGTTGCAGTGAGCTGAGATAGC... | AGCACTTATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCTAGAACACGGGAGACGGAGGTTGCAGTGAGCTGAGATAGC... | pathogenic | 186,184 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108320054 in gene ATM: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCTAGAACACGGGAGACGGAGGTTGCAGTGAGCTGAGATAGCACCACTG... | ATATTGGCTGGAGGATCCACAAAGGACTGCTTATCTTTATTTATGAAATATTTTCTTTTATTAAAAAATAATACGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGAAACACGGTGAAACCCTTTCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGCAGCATGCGCCTGTAGTCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATTGCTAGAACACGGGAGACGGAGGTTGCAGTGAGCTGAGATAGCACCACTG... | pathogenic | 186,185 |
Variant chromosome 11, position 108321286, gene ATM: benign or pathogenic? Disease(s)? | benign | TAGAGATATATCCTCATATTTTAAAAACCTTTTCCTGTGCGAGTTGATTCTTGCTTGCCTCTGTAAATCAATATATACTATTCTTCTCCTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTC... | TAGAGATATATCCTCATATTTTAAAAACCTTTTCCTGTGCGAGTTGATTCTTGCTTGCCTCTGTAAATCAATATATACTATTCTTCTCCTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTC... | benign | 186,196 |
Determine whether the variant at chromosome 11, position 108321298, in gene ATM is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_colorectal_cancer_type_X'] | CTCATATTTTAAAAACCTTTTCCTGTGCGAGTTGATTCTTGCTTGCCTCTGTAAATCAATATATACTATTCTTCTCCTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCC... | CTCATATTTTAAAAACCTTTTCCTGTGCGAGTTGATTCTTGCTTGCCTCTGTAAATCAATATATACTATTCTTCTCCTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCC... | pathogenic | 186,198 |
Gene mutation in ATM at chromosome 11, position 108321327—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AGTTGATTCTTGCTTGCCTCTGTAAATCAATATATACTATTCTTCTCCTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTC... | AGTTGATTCTTGCTTGCCTCTGTAAATCAATATATACTATTCTTCTCCTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTC... | pathogenic | 186,204 |
Is the variant located on chromosome 11 at position 108321342, gene ATM, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GCCTCTGTAAATCAATATATACTATTCTTCTCCTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCA... | GCCTCTGTAAATCAATATATACTATTCTTCTCCTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCA... | pathogenic | 186,208 |
Is the genetic variant on chromosome 11, position 108321361, gene ATM, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TACTATTCTTCTCCTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCAGCACATAAATTCCATGAGA... | TACTATTCTTCTCCTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCAGCACATAAATTCCATGAGA... | pathogenic | 186,214 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108321368, gene ATM. What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTCTCCTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCAGCACATAAATTCCATGAGAGTAAAGA... | CTTCTCCTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCAGCACATAAATTCCATGAGAGTAAAGA... | pathogenic | 186,218 |
Located at chromosome 11 position 108321374, 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', 'Malignant_tumor_of_breast'] | CTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCAGCACATAAATTCCATGAGAGTAAAGACCTGAT... | CTTCCTCTTGTATTTCAGCTACACAGACCTCTCTGTGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCAGCACATAAATTCCATGAGAGTAAAGACCTGAT... | pathogenic | 186,223 |
Is the variant located on chromosome 11 at position 108321409, gene ATM, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCAGCACATAAATTCCATGAGAGTAAAGACCTGATCTGACTTGTCCACTTGTGAATTCCCCTTGTGCCTA... | TGTTTTCTTGTCAGGCCAAGCTGTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCAGCACATAAATTCCATGAGAGTAAAGACCTGATCTGACTTGTCCACTTGTGAATTCCCCTTGTGCCTA... | pathogenic | 186,234 |
Considering the variant on chromosome 11, location 108321431, involving gene ATM, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCAGCACATAAATTCCATGAGAGTAAAGACCTGATCTGACTTGTCCACTTGTGAATTCCCCTTGTGCCTAGTGCCTGGCACATAATAGGTAT... | GTTTCTATCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCAGCACATAAATTCCATGAGAGTAAAGACCTGATCTGACTTGTCCACTTGTGAATTCCCCTTGTGCCTAGTGCCTGGCACATAATAGGTAT... | benign | 186,238 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108321438, gene ATM. What disease(s) is it linked to if pathogenic? | benign | TCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCAGCACATAAATTCCATGAGAGTAAAGACCTGATCTGACTTGTCCACTTGTGAATTCCCCTTGTGCCTAGTGCCTGGCACATAATAGGTATTTATTGA... | TCCAAGGGCCTTAGATGTATCTTCTCCTTTTCCCCCAGTTACCATGCGGGTGGCTTCTTTTCATTCGGACCCTAGTTAAATAATAATGTATCTTCAGAGAGGCCTTTCTTGATTACCCATTCTATAATAGCCATCTAGCCATTTTGTTTTGTTACCCTGTTTTAATTCTCTGCATGTCCCTTGTTACTTTCCAATACTTATTTATTGTCTGTTCCTCCAAACCAGCACATAAATTCCATGAGAGTAAAGACCTGATCTGACTTGTCCACTTGTGAATTCCCCTTGTGCCTAGTGCCTGGCACATAATAGGTATTTATTGA... | benign | 186,243 |
Is the chromosome 11, position 108325249 variant in ATM clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AGACATACATATTAATGTGGCTTAGGAGGAAAATAAAGGAACAAAAGTCTTTTCTGCTTTCATTCATAAGTACATTGGCAGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTA... | AGACATACATATTAATGTGGCTTAGGAGGAAAATAAAGGAACAAAAGTCTTTTCTGCTTTCATTCATAAGTACATTGGCAGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTA... | benign | 186,246 |
Mutation at chromosome 11, position 108325268, within ATM: benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GCTTAGGAGGAAAATAAAGGAACAAAAGTCTTTTCTGCTTTCATTCATAAGTACATTGGCAGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGC... | GCTTAGGAGGAAAATAAAGGAACAAAAGTCTTTTCTGCTTTCATTCATAAGTACATTGGCAGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGC... | benign | 186,247 |
Regarding the variant found on chromosome 11 at position 108325291 in gene ATM: is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | AAAAGTCTTTTCTGCTTTCATTCATAAGTACATTGGCAGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTT... | AAAAGTCTTTTCTGCTTTCATTCATAAGTACATTGGCAGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTT... | benign | 186,249 |
Determine if the mutation at chromosome 11, position 108325292 in gene ATM is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AAAGTCTTTTCTGCTTTCATTCATAAGTACATTGGCAGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTT... | AAAGTCTTTTCTGCTTTCATTCATAAGTACATTGGCAGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTT... | benign | 186,250 |
The genetic variant at chromosome 11, position 108325292, affecting gene ATM: benign or pathogenic? Disease name(s) if pathogenic? | benign | AAAGTCTTTTCTGCTTTCATTCATAAGTACATTGGCAGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTT... | AAAGTCTTTTCTGCTTTCATTCATAAGTACATTGGCAGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTT... | benign | 186,251 |
A genetic variant on chromosome 11, position 108325320, affects the gene ATM. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACATTGGCAGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATC... | ACATTGGCAGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATC... | pathogenic | 186,265 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108325328, gene ATM. What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | AGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATAT... | AGTACTTACTGCCAGAAATCAAGAAATTTTTCCTCTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATAT... | pathogenic | 186,271 |
Gene mutation in ATM at chromosome 11, position 108325362—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTA... | CTGAATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTA... | pathogenic | 186,276 |
The mutation impacting ATM on chromosome 11 at position 108325365: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Abnormal_central_motor_function', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGC... | AATGAAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGC... | pathogenic | 186,279 |
Assess the variant on chromosome 11, position 108325369, impacting ATM: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGT... | AAAGATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGT... | pathogenic | 186,281 |
Is the genetic change at chromosome 11, position 108325373, within gene ATM benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCA... | ATTATCCTGCTGAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCA... | pathogenic | 186,284 |
Is the variant located on chromosome 11 at position 108325384, gene ATM, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACAC... | GAAAAGAGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACAC... | pathogenic | 186,285 |
Variant in gene ATM, located at chromosome 11 position 108325390: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCT... | AGTACAGAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCT... | pathogenic | 186,286 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108325396, gene ATM: what disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAA... | GAATTCTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAA... | pathogenic | 186,288 |
Regarding the variant found on chromosome 11 at position 108325401 in gene ATM: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGT... | CTTTAAGAAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGT... | pathogenic | 186,290 |
The genetic variant at chromosome 11, position 108325408, affecting gene ATM: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTA... | AAACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTA... | pathogenic | 186,293 |
Variant at chromosome position 108325409, 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'] | AACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTAT... | AACAGTGAATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTAT... | pathogenic | 186,294 |
Located at chromosome 11 position 108325417, the variant affecting gene ATM—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATC... | ATAGAATGGTAGTAACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATC... | pathogenic | 186,298 |
Does the variant impacting ATM on chromosome 11, position 108325431, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAA... | ACCAGAGGCAGGGAAGGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAA... | pathogenic | 186,302 |
Clinical classification of chromosome 11, position 108325446, gene ATM: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAG... | GGGTGTTGTGGAGGGAGAGGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAG... | pathogenic | 186,304 |
Evaluate if the mutation on chromosome 11 at position 108325464 in ATM is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAAT... | GGATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAAT... | pathogenic | 186,307 |
Does the genetic variant at chromosome 11, position 108325466, impacting gene ATM, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCT... | ATGAAGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCT... | pathogenic | 186,310 |
Regarding the variant at chromosome 11 and position 108325470, affecting gene ATM: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCT... | AGAGGGGCTGGTTAATGAGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCT... | pathogenic | 186,312 |
Regarding the variant found on chromosome 11 at position 108325487 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'] | AGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCTGTTTCTTTGGTAGAGAA... | AGTGAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCTGTTTCTTTGGTAGAGAA... | pathogenic | 186,316 |
Regarding the variant found on chromosome 11 at position 108325490 in gene ATM: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome'] | GAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCTGTTTCTTTGGTAGAGAAATA... | GAAAAAACACAGGTAAATAGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCTGTTTCTTTGGTAGAGAAATA... | pathogenic | 186,318 |
Considering the variant on chromosome 11, location 108325508, 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'] | AGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCTGTTTCTTTGGTAGAGAAATAGGAAGAAGAGAAGCAGAG... | AGAAGAAATAAGATCTAGTGTTTGATAGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCTGTTTCTTTGGTAGAGAAATAGGAAGAAGAGAAGCAGAG... | pathogenic | 186,324 |
Clinical classification of chromosome 11, position 108325534, gene ATM: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCTGTTTCTTTGGTAGAGAAATAGGAAGAAGAGAAGCAGAGGGAAGGTTGGATGAACTGGTGCACAA... | AGCACAATAGGGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCTGTTTCTTTGGTAGAGAAATAGGAAGAAGAGAAGCAGAGGGAAGGTTGGATGAACTGGTGCACAA... | pathogenic | 186,328 |
Mutation at chromosome 11, position 108325544, within ATM: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCTGTTTCTTTGGTAGAGAAATAGGAAGAAGAGAAGCAGAGGGAAGGTTGGATGAACTGGTGCACAAATGCTTATGC... | GGCAACTGTAGTTAACAGTAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCTGTTTCTTTGGTAGAGAAATAGGAAGAAGAGAAGCAGAGGGAAGGTTGGATGAACTGGTGCACAAATGCTTATGC... | pathogenic | 186,332 |
Evaluate this variant at chromosome 11, position 108325562, gene ATM: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCTGTTTCTTTGGTAGAGAAATAGGAAGAAGAGAAGCAGAGGGAAGGTTGGATGAACTGGTGCACAAATGCTTATGCTCTCAGATTACATTCCAT... | TAATTTACTGTATATTTTTAAATAGCTACAAAAGAAGATTTGGAATGTTTCCAACACAAATGATAAATGTTTGAGATCATGGATATCTCAATTACCCAAATTTGATCATTACACATTGTATGCTTGTATCAAAATATCACACGTACCTCATAAATATGTACAACTATTATGTATCCATAAAAATTAAAAATAAATTTTAAAAAGAAACACCTAAAGAATAATCTGGCTGTTTCTTTGGTAGAGAAATAGGAAGAAGAGAAGCAGAGGGAAGGTTGGATGAACTGGTGCACAAATGCTTATGCTCTCAGATTACATTCCAT... | benign | 186,337 |
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