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 |
|---|---|---|---|---|---|
Is the genetic mutation found on chromosome 11 at position 108256251, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAGGAAAACTCAAGAATAATAATTTGAGTACTTCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAATTTCCTTTAGCCTCAAAATCACGAGTTCTCTTCATGTA... | AAAGGAAAACTCAAGAATAATAATTTGAGTACTTCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAATTTCCTTTAGCCTCAAAATCACGAGTTCTCTTCATGTA... | pathogenic | 184,192 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108256281, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTTCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAATTTCCTTTAGCCTCAAAATCACGAGTTCTCTTCATGTATACTATTCTCTTGCCAAAACTTGCATTTTT... | ACTTCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAATTTCCTTTAGCCTCAAAATCACGAGTTCTCTTCATGTATACTATTCTCTTGCCAAAACTTGCATTTTT... | pathogenic | 184,202 |
Chromosome 11, position 108256284, gene ATM (ATM serine/threonine kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAATTTCCTTTAGCCTCAAAATCACGAGTTCTCTTCATGTATACTATTCTCTTGCCAAAACTTGCATTTTTTAA... | TCCTTTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAATTTCCTTTAGCCTCAAAATCACGAGTTCTCTTCATGTATACTATTCTCTTGCCAAAACTTGCATTTTTTAA... | pathogenic | 184,205 |
Is the chromosome 11, position 108256288 variant in ATM (ATM serine/threonine kinase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Malignant_tumor_of_breast'] | TTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAATTTCCTTTAGCCTCAAAATCACGAGTTCTCTTCATGTATACTATTCTCTTGCCAAAACTTGCATTTTTTAAAATG... | TTGTACTGGAAATTATGGTAGACATAAAATAATTCCTTGTGTAGGTTAGTGAGGAATAGTAAGAGTTTGAGCATAGGGATTATATGATGAAAAAAACCTCTAAATACAAAGGAGGGAAATGTTACAGTAATAGAAAAGAACACGATGTAAACAAATCTAATAGATTTTGGTGGCATCTGAAGAGAGATGAGTGATTAGTAAAGACAATAAATGGACTAGCAATTATTTTAGACGTCATCTAGGAATTTCCTTTAGCCTCAAAATCACGAGTTCTCTTCATGTATACTATTCTCTTGCCAAAACTTGCATTTTTTAAAATG... | pathogenic | 184,206 |
Chromosome 11, position 108257364, gene ATM (ATM serine/threonine kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | ATATTTTCTCCTAAAATGCCGTTTCCTACCCTGTAGGAACAAAAAAAATCTGAACATTTTGTGTGTAACTTAGCAGATTCTTAGTAATTCTATAAAATTGTCTAAACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCA... | ATATTTTCTCCTAAAATGCCGTTTCCTACCCTGTAGGAACAAAAAAAATCTGAACATTTTGTGTGTAACTTAGCAGATTCTTAGTAATTCTATAAAATTGTCTAAACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCA... | benign | 184,234 |
Located at chromosome 11 position 108257458, the variant affecting gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AAATTGTCTAAACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCT... | AAATTGTCTAAACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCT... | benign | 184,235 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108257458—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AAATTGTCTAAACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCT... | AAATTGTCTAAACTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCT... | benign | 184,236 |
Regarding the variant at chromosome 11 and position 108257484, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAA... | TTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAA... | pathogenic | 184,247 |
Regarding the variant found on chromosome 11 at position 108257490 in gene ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTT... | TTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTT... | pathogenic | 184,250 |
Is the genetic variant on chromosome 11, position 108257511, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TTGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTA... | TTGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTA... | pathogenic | 184,253 |
Determine if the mutation at chromosome 11, position 108257514 in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAA... | CCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAA... | pathogenic | 184,255 |
A genetic variant on chromosome 11, position 108257516, affects the gene ATM (ATM serine/threonine kinase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAG... | CAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAG... | pathogenic | 184,256 |
Variant chromosome 11, position 108257524, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAA... | AGTGCAGTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAA... | pathogenic | 184,258 |
Variant at chromosome 11, position 108257530, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAG... | GTGGCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAG... | pathogenic | 184,260 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108257533—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAGGTT... | GCCTGATCTCGGCTCATTGCAACCTTCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAGGTT... | pathogenic | 184,261 |
Is chromosome 11, position 108257574, gene ATM (ATM serine/threonine kinase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAGGTTCCTATTCTTCAGAAGCTTAAAATGTCATTTTAATGTCTCTT... | AGCAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAGGTTCCTATTCTTCAGAAGCTTAAAATGTCATTTTAATGTCTCTT... | pathogenic | 184,269 |
Does the variant impacting ATM (ATM serine/threonine kinase) on chromosome 11, position 108257600, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAGGTTCCTATTCTTCAGAAGCTTAAAATGTCATTTTAATGTCTCTTTATATGACTGTAATTTCTACTTGTGT... | AGTAGCTGAGATTATAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAGGTTCCTATTCTTCAGAAGCTTAAAATGTCATTTTAATGTCTCTTTATATGACTGTAATTTCTACTTGTGT... | pathogenic | 184,276 |
A mutation at chromosome position 108257614 on chromosome 11 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAGGTTCCTATTCTTCAGAAGCTTAAAATGTCATTTTAATGTCTCTTTATATGACTGTAATTTCTACTTGTGTTCTAAGACTTACAG... | TAGGTGCCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAGGTTCCTATTCTTCAGAAGCTTAAAATGTCATTTTAATGTCTCTTTATATGACTGTAATTTCTACTTGTGTTCTAAGACTTACAG... | benign | 184,281 |
Clinically, how would you classify the variant at chromosome 11, position 108257620, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAGGTTCCTATTCTTCAGAAGCTTAAAATGTCATTTTAATGTCTCTTTATATGACTGTAATTTCTACTTGTGTTCTAAGACTTACAGTCATTT... | CCTGCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAGGTTCCTATTCTTCAGAAGCTTAAAATGTCATTTTAATGTCTCTTTATATGACTGTAATTTCTACTTGTGTTCTAAGACTTACAGTCATTT... | benign | 184,282 |
Does the variant on chromosome 11 at location 108257623 affecting gene ATM (ATM serine/threonine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAGGTTCCTATTCTTCAGAAGCTTAAAATGTCATTTTAATGTCTCTTTATATGACTGTAATTTCTACTTGTGTTCTAAGACTTACAGTCATTTATT... | GCCATCACGCCCTGCTAATATTTGTATTTTTAGTAGAGACAAGGTTTCACCACGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGGTTGTAGGCGTGAGCCACCATGCCCGGCCAGCTGTCAAAACTTGTATCTACTAGAAAAAATGTTTTATGCTATTCTGTGGAGTCTAAAAAGCTGAATAAGTCAAGGTTCCTATTCTTCAGAAGCTTAAAATGTCATTTTAATGTCTCTTTATATGACTGTAATTTCTACTTGTGTTCTAAGACTTACAGTCATTTATT... | benign | 184,283 |
Is the chromosome 11, position 108258965 variant in ATM (ATM serine/threonine kinase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TTGATGGGCATTTGGGTTGCTTCCAAGTTTTTGCTGTTGTGAACAGTGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGTAAAATGATTTATAATCCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTG... | TTGATGGGCATTTGGGTTGCTTCCAAGTTTTTGCTGTTGTGAACAGTGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGTAAAATGATTTATAATCCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTG... | benign | 184,287 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108258965, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | benign | TTGATGGGCATTTGGGTTGCTTCCAAGTTTTTGCTGTTGTGAACAGTGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGTAAAATGATTTATAATCCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTG... | TTGATGGGCATTTGGGTTGCTTCCAAGTTTTTGCTGTTGTGAACAGTGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGTAAAATGATTTATAATCCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTG... | benign | 184,288 |
Evaluate this variant at chromosome 11, position 108258969, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TGGGCATTTGGGTTGCTTCCAAGTTTTTGCTGTTGTGAACAGTGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGTAAAATGATTTATAATCCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAG... | TGGGCATTTGGGTTGCTTCCAAGTTTTTGCTGTTGTGAACAGTGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGTAAAATGATTTATAATCCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAG... | benign | 184,291 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108258985, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCCAAGTTTTTGCTGTTGTGAACAGTGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGTAAAATGATTTATAATCCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTA... | TTCCAAGTTTTTGCTGTTGTGAACAGTGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGTAAAATGATTTATAATCCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTA... | pathogenic | 184,294 |
Is chromosome 11, position 108259015, gene ATM (ATM serine/threonine kinase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCAATAAACATACGTGTGCATGTGTCTTTATAGTAAAATGATTTATAATCCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGC... | GCAATAAACATACGTGTGCATGTGTCTTTATAGTAAAATGATTTATAATCCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGC... | pathogenic | 184,304 |
Clinical classification of chromosome 11, position 108259035, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTGTCTTTATAGTAAAATGATTTATAATCCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGCCATTTTAAAAAATTGTTAAT... | TGTGTCTTTATAGTAAAATGATTTATAATCCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGCCATTTTAAAAAATTGTTAAT... | pathogenic | 184,313 |
Evaluate if the mutation on chromosome 11 at position 108259064 in ATM (ATM serine/threonine kinase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | CCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGCCATTTTAAAAAATTGTTAATGAGTTTTGCTTATACTGTATGACTACGTG... | CCTTTGTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGCCATTTTAAAAAATTGTTAATGAGTTTTGCTTATACTGTATGACTACGTG... | pathogenic | 184,320 |
Clinically, how would you classify the variant at chromosome 11, position 108259069, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGCCATTTTAAAAAATTGTTAATGAGTTTTGCTTATACTGTATGACTACGTGGAACT... | GTGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGCCATTTTAAAAAATTGTTAATGAGTTTTGCTTATACTGTATGACTACGTGGAACT... | pathogenic | 184,321 |
The genetic variant at chromosome 11, position 108259070, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGCCATTTTAAAAAATTGTTAATGAGTTTTGCTTATACTGTATGACTACGTGGAACTT... | TGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGCCATTTTAAAAAATTGTTAATGAGTTTTGCTTATACTGTATGACTACGTGGAACTT... | pathogenic | 184,322 |
Variant chromosome 11, position 108259075, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGCCATTTTAAAAAATTGTTAATGAGTTTTGCTTATACTGTATGACTACGTGGAACTTCTAAA... | ATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGCCATTTTAAAAAATTGTTAATGAGTTTTGCTTATACTGTATGACTACGTGGAACTTCTAAA... | pathogenic | 184,325 |
Is the genetic change at chromosome 11, position 108259082, within gene ATM (ATM serine/threonine kinase) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGCCATTTTAAAAAATTGTTAATGAGTTTTGCTTATACTGTATGACTACGTGGAACTTCTAAAAACATTT... | GTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGATTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTGTTTCTCCACATCCTGTCCAGCATCTGTTGTTTCCTGACTTTTTAATGATAGGCTGTAAGCATGAAACTCTTTCTTATCTCTTGGTAGTACTCTGTCACTGGTATGATTTGCAAGAACAGAGTATAAGATTTGCCATTTTAAAAAATTGTTAATGAGTTTTGCTTATACTGTATGACTACGTGGAACTTCTAAAAACATTT... | benign | 184,330 |
Regarding the variant found on chromosome 11 at position 108267182 in gene ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATCGGCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCC... | TTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATCGGCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCC... | pathogenic | 184,349 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108267196 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAACCAAAAAAGAGCCCGCATCGGCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTG... | GAACCAAAAAAGAGCCCGCATCGGCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTG... | pathogenic | 184,352 |
Determine if the mutation at chromosome 11, position 108267204 in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Familial_pancreatic_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | AAAGAGCCCGCATCGGCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAA... | AAAGAGCCCGCATCGGCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAA... | pathogenic | 184,356 |
The genetic variant at chromosome 11, position 108267206, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGAGCCCGCATCGGCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAAT... | AGAGCCCGCATCGGCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAAT... | pathogenic | 184,358 |
The mutation impacting ATM (ATM serine/threonine kinase) on chromosome 11 at position 108267210: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['ATM-related_cancer_predisposition', 'Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCCGCATCGGCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAAT... | CCCGCATCGGCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAAT... | pathogenic | 184,360 |
Does the genetic variant at chromosome 11, position 108267224, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAA... | TCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAA... | pathogenic | 184,367 |
Is the variant located on chromosome 11 at position 108267227, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGA... | ATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGA... | pathogenic | 184,369 |
The chromosome 11, position 108267235 genetic variant in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACA... | CCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACA... | pathogenic | 184,372 |
Located at chromosome 11 position 108267267, the variant affecting gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAA... | CTGACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAA... | pathogenic | 184,383 |
A genetic alteration at chromosome 11, position 108267269, in gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAA... | GACTTCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAA... | pathogenic | 184,384 |
Determine whether the variant at chromosome 11, position 108267273, in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTA... | TCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTA... | pathogenic | 184,385 |
Determine if the mutation at chromosome 11, position 108267273 in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTA... | TCAAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTA... | pathogenic | 184,386 |
Regarding the variant found on chromosome 11 at position 108267275 in gene ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | AAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGG... | AAACTATACTACAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGG... | pathogenic | 184,387 |
Regarding the variant at chromosome 11 and position 108267286, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTC... | CAAGGCTGCAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTC... | pathogenic | 184,392 |
Does the chromosome 11 mutation at position 108267309 within gene ATM (ATM serine/threonine kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCATGGGCAAGGAC... | CATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCATGGGCAAGGAC... | pathogenic | 184,396 |
Variant in gene ATM (ATM serine/threonine kinase), located at chromosome 11 position 108267315: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCATGGGCAAGGACTTCATG... | ACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCATGGGCAAGGACTTCATG... | pathogenic | 184,398 |
For chromosome 11, position 108267341, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAAC... | CAATGGAACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGCTCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTGATAGAAAAATCAATTCAAGATGGATTAAAGACTTAAACATTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAAC... | pathogenic | 184,407 |
Determine whether the variant at chromosome 11, position 108268024, in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAATCCTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGTGATTCCTCAGGGATCTAGAACTGGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCCGCTATAAAGACACATGCACACGTATGTTTATTGTGGCATTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAACTGTGGCACATATACACCATGGAATACT... | AGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAATCCTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGTGATTCCTCAGGGATCTAGAACTGGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCCGCTATAAAGACACATGCACACGTATGTTTATTGTGGCATTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAACTGTGGCACATATACACCATGGAATACT... | benign | 184,421 |
Clinically, how would you classify the variant at chromosome 11, position 108268379, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GTTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTGTCGCAAGAAGAAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAAT... | GTTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTGTCGCAAGAAGAAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAAT... | benign | 184,424 |
A mutation at chromosome position 108268388 on chromosome 11 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGGATGAAATTGGAAATCATCATTCTCAGTAAACTGTCGCAAGAAGAAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGT... | ATGGATGAAATTGGAAATCATCATTCTCAGTAAACTGTCGCAAGAAGAAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGT... | pathogenic | 184,425 |
Mutation found at chromosome 11 position 108268401, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GAAATCATCATTCTCAGTAAACTGTCGCAAGAAGAAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTT... | GAAATCATCATTCTCAGTAAACTGTCGCAAGAAGAAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTT... | benign | 184,431 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108268425 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TCGCAAGAAGAAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTT... | TCGCAAGAAGAAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTT... | pathogenic | 184,438 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome position 108268435 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCAT... | AAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCAT... | pathogenic | 184,441 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108268470—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACT... | GGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACT... | pathogenic | 184,454 |
Variant at chromosome 11, position 108268487, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTAC... | ATCACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTAC... | pathogenic | 184,460 |
The chromosome 11, position 108268490 genetic variant in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | ACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACA... | ACATGGACACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACA... | pathogenic | 184,461 |
Evaluate this variant at chromosome 11, position 108268497, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCT... | CACAGGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCT... | pathogenic | 184,463 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108268501 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['ATM-related_cancer_predisposition', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAA... | GGAAGGGGAATATCACACTCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAA... | pathogenic | 184,464 |
The mutation in gene ATM (ATM serine/threonine kinase) at chromosome 11, position 108268519—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAAT... | TCTGTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAAT... | pathogenic | 184,471 |
Mutation at chromosome 11, position 108268522, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | GTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTT... | GTGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTT... | pathogenic | 184,474 |
Does the genetic variant at chromosome 11, position 108268544, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTTTTTTTTTTTTTTTTTTTTGAGA... | GAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTTTTTTTTTTTTTTTTTTTTGAGA... | pathogenic | 184,482 |
Does the genetic variant at chromosome 11, position 108268548, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTTTTTTTTTTTTTTTTTTTTGAGACAGA... | GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTTTTTTTTTTTTTTTTTTTTGAGACAGA... | pathogenic | 184,483 |
Is the genetic mutation found on chromosome 11 at position 108268575, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTTCGTCAAACCCAGGCTGGA... | CTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTTCGTCAAACCCAGGCTGGA... | pathogenic | 184,490 |
Clinically, how would you classify the variant at chromosome 11, position 108268586, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTTCGTCAAACCCAGGCTGGAGTGCAGTGGCA... | TGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTTCGTCAAACCCAGGCTGGAGTGCAGTGGCA... | pathogenic | 184,494 |
Regarding the variant at chromosome 11 and position 108268600, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast'] | GTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTTCGTCAAACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCAC... | GTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTTCGTCAAACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCAC... | pathogenic | 184,502 |
A mutation at chromosome position 108268616 on chromosome 11 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTTCGTCAAACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAATCTCTGCCTCC... | TGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTGTAATAAAAAAAATAATAATTTTTAAAGTTTGCATATTATTTTGTTATGTAGACATATTACAGGTTATATATCCATTTTACTATTGTTGGACATTTAGTAGAAAAAGTACTGTAGTTTTCATACTTACACATGAACCTTGAATTGTTTGATTAGGTAAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTTCGTCAAACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAATCTCTGCCTCC... | benign | 184,508 |
Assess the variant on chromosome 11, position 108270482, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['ATM-related_cancer_predisposition', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATATCTGTCAAAGCAAGATCTACTTTTCTTAGACATGCTCAAGTTCTTGTGTTTGTGTGTAACTACTGCTCAGACCAATACTGTGTCCTTTAGGGCAGCTGATATTCGGAGGAAATTGTTAATGTTAATTGATTCTAGCACGCTAGAACCTACCAAATCCCTCCACCTGCATATGGTGAGTTACGTTAAATGAAGAAGCTCTTGGATTTTATCTGATGTTGCTGACTAAATGTAATGAGTTGACATGTAAGAATCACATGGTGTCTTTGAAGAATTGAAATTGCTTTCTTGAGAAATGAACCTGAGACTAGTTGGAAAA... | AATATCTGTCAAAGCAAGATCTACTTTTCTTAGACATGCTCAAGTTCTTGTGTTTGTGTGTAACTACTGCTCAGACCAATACTGTGTCCTTTAGGGCAGCTGATATTCGGAGGAAATTGTTAATGTTAATTGATTCTAGCACGCTAGAACCTACCAAATCCCTCCACCTGCATATGGTGAGTTACGTTAAATGAAGAAGCTCTTGGATTTTATCTGATGTTGCTGACTAAATGTAATGAGTTGACATGTAAGAATCACATGGTGTCTTTGAAGAATTGAAATTGCTTTCTTGAGAAATGAACCTGAGACTAGTTGGAAAA... | pathogenic | 184,514 |
Is the genetic variant on chromosome 11, position 108271039, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GTGAAGTTACAAGAATACTACAGTTAACGTTTTACCATATTTGCTTAATCATTCCCTCTCTCCACACACACACTCATACGCAGATACACACATCATTTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGT... | GTGAAGTTACAAGAATACTACAGTTAACGTTTTACCATATTTGCTTAATCATTCCCTCTCTCCACACACACACTCATACGCAGATACACACATCATTTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGT... | benign | 184,516 |
Does the variant impacting ATM (ATM serine/threonine kinase) on chromosome 11, position 108271039, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTGAAGTTACAAGAATACTACAGTTAACGTTTTACCATATTTGCTTAATCATTCCCTCTCTCCACACACACACTCATACGCAGATACACACATCATTTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGT... | GTGAAGTTACAAGAATACTACAGTTAACGTTTTACCATATTTGCTTAATCATTCCCTCTCTCCACACACACACTCATACGCAGATACACACATCATTTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGT... | benign | 184,517 |
Assess the variant on chromosome 11, position 108271061, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['ATM-related_cancer_predisposition', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTAACGTTTTACCATATTTGCTTAATCATTCCCTCTCTCCACACACACACTCATACGCAGATACACACATCATTTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTT... | GTTAACGTTTTACCATATTTGCTTAATCATTCCCTCTCTCCACACACACACTCATACGCAGATACACACATCATTTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTT... | pathogenic | 184,524 |
Assess the variant on chromosome 11, position 108271090, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCCCTCTCTCCACACACACACTCATACGCAGATACACACATCATTTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTAT... | TTCCCTCTCTCCACACACACACTCATACGCAGATACACACATCATTTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTAT... | pathogenic | 184,535 |
Mutation found at chromosome 11 position 108271101, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CACACACACACTCATACGCAGATACACACATCATTTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAG... | CACACACACACTCATACGCAGATACACACATCATTTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAG... | pathogenic | 184,538 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108271113—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CATACGCAGATACACACATCATTTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAA... | CATACGCAGATACACACATCATTTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAA... | pathogenic | 184,544 |
Evaluate if the mutation on chromosome 11 at position 108271135 in ATM (ATM serine/threonine kinase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCAC... | TTTCTCTGAACCATTTTGAGATGAAATCGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCAC... | pathogenic | 184,548 |
Clinical significance of chromosome 11, position 108271162, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAG... | CGCACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAG... | benign | 184,562 |
Is the chromosome 11, position 108271164 variant in ATM (ATM serine/threonine kinase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGAT... | CACACGTGATGCTCCTTATACTTCAGTGTATATTTCCTAAAAACAAGGATACACTTCTGTTTAGCCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGAT... | benign | 184,564 |
Mutation at chromosome 11, position 108271228, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCT... | CCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCT... | benign | 184,566 |
Is chromosome 11, position 108271228, gene ATM (ATM serine/threonine kinase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCT... | CCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCT... | benign | 184,567 |
Assess the variant on chromosome 11, position 108271228, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCT... | CCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCT... | benign | 184,568 |
A mutation at chromosome position 108271228 on chromosome 11 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCT... | CCACAGTATAATCATCAAAATCAGGAAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCT... | benign | 184,569 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108271253, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | AAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCC... | AAGTTAACATTTTGTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCC... | pathogenic | 184,576 |
The mutation in gene ATM (ATM serine/threonine kinase) at chromosome 11, position 108271266—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTA... | GTCATTGCATTTAGGTGTGTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTA... | pathogenic | 184,581 |
The mutation in gene ATM (ATM serine/threonine kinase) at chromosome 11, position 108271284—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGC... | GTAGTCTGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGC... | pathogenic | 184,588 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108271290—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTAC... | TGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTAC... | pathogenic | 184,590 |
Mutation at chromosome 11, position 108271290, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTAC... | TGTTTAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTAC... | pathogenic | 184,591 |
Is the genetic mutation found on chromosome 11 at position 108271294, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTAT... | TAGTCTCCTTCAATCTGGAACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTAT... | pathogenic | 184,592 |
Is the genetic change at chromosome 11, position 108271312, within gene ATM (ATM serine/threonine kinase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATA... | AACAGTTCTTTTTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATA... | pathogenic | 184,596 |
Is the genetic mutation found on chromosome 11 at position 108271323, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATC... | TTTTTATTTATCATGACCTTCATATATTTGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATC... | pathogenic | 184,601 |
Considering the variant on chromosome 11, location 108271351, involving gene ATM (ATM serine/threonine kinase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCT... | TGAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCT... | pathogenic | 184,609 |
Does the genetic variant at chromosome 11, position 108271352, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome'] | GAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTA... | GAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTA... | pathogenic | 184,610 |
Variant in gene ATM (ATM serine/threonine kinase), located at chromosome 11 position 108271352: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTA... | GAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTA... | pathogenic | 184,611 |
Considering the genetic mutation at chromosome 11, position 108271352, impacting ATM (ATM serine/threonine kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTA... | GAATAGTACAGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTA... | pathogenic | 184,612 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome 11, position 108271361—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTAGCCCCAGTG... | AGGTCCCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTAGCCCCAGTG... | pathogenic | 184,617 |
Variant at chromosome 11, position 108271366, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTAGCCCCAGTGTATGT... | CCTTGCTCTGAGTTTGTCTGATGTTTCCTTATGATTAAATTTATACTTTGACGAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTAGCCCCAGTGTATGT... | pathogenic | 184,619 |
Is the variant located on chromosome 11 at position 108271418, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTAGCCCCAGTGTATGTGGAGGTAGAGCCTCTGGCCTAGCGAGTAGCAAGTTGGGTCCTAGGTCATGTC... | GAGAATGTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTAGCCCCAGTGTATGTGGAGGTAGAGCCTCTGGCCTAGCGAGTAGCAAGTTGGGTCCTAGGTCATGTC... | benign | 184,638 |
Is the genetic mutation found on chromosome 11 at position 108271424, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTAGCCCCAGTGTATGTGGAGGTAGAGCCTCTGGCCTAGCGAGTAGCAAGTTGGGTCCTAGGTCATGTCCCCAGT... | GTTGCAAAAGTAATTCCTCTTCTGCCTTCACCCTGTCCATTTATCTGTCTGTTGATAGATATCTTCAAATCCAAGCCAACATCACACAGTTTATCTTTTTTTCTGTCCAAATTTATAAATTGCTTTACTAGCAGTTAAAAAAAACACCCCAAAACCTGACTATCCACTCAACCTGAATGCATTTACTTATTTGCTCAACAACCTTATATATAACTAATCTAACCATGTGGGCCATTTTCTTAGCCCTAGCCCCAGTGTATGTGGAGGTAGAGCCTCTGGCCTAGCGAGTAGCAAGTTGGGTCCTAGGTCATGTCCCCAGT... | benign | 184,641 |
Does the chromosome 11 mutation at position 108272537 within gene ATM (ATM serine/threonine kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATATATCTTCACTCTACTGATGAGGGTACGAAGGCCCTAGATGACATAAGGCAAGTTTTTTACCAGAAAAGTTAAGGCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTG... | GATATATCTTCACTCTACTGATGAGGGTACGAAGGCCCTAGATGACATAAGGCAAGTTTTTTACCAGAAAAGTTAAGGCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTG... | pathogenic | 184,652 |
Variant chromosome 11, position 108272564, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TACGAAGGCCCTAGATGACATAAGGCAAGTTTTTTACCAGAAAAGTTAAGGCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTA... | TACGAAGGCCCTAGATGACATAAGGCAAGTTTTTTACCAGAAAAGTTAAGGCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTA... | pathogenic | 184,663 |
Regarding the variant found on chromosome 11 at position 108272566 in gene ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast'] | CGAAGGCCCTAGATGACATAAGGCAAGTTTTTTACCAGAAAAGTTAAGGCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATA... | CGAAGGCCCTAGATGACATAAGGCAAGTTTTTTACCAGAAAAGTTAAGGCTGTGGTACTGGGATTTGAATTTTCTGTTTGACTTCAAAGCCTTTTGTTTTTACTATACACCTCTTAAATATTTACAGCTGTGTGTGTGTGTGTATGTGTGTGCATGTATGAATTTATGTTTATATACTTAAAAAAAATTTTTTTTTGAGACGGAATCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATA... | pathogenic | 184,665 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.