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 |
|---|---|---|---|---|---|
Gene ATM variant at chromosome 11, position 108325985—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AAATGCAAAACAGTGCCATGCTCACTAAGTTTTGTTTTGTTTTGGGAAGTATACAGTTGAAATTCTTTATCTACAGGTTTCCATCTATGGATTCAACCAACCGCAGATCAAAAATATTTGAAAAAAAAATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCC... | AAATGCAAAACAGTGCCATGCTCACTAAGTTTTGTTTTGTTTTGGGAAGTATACAGTTGAAATTCTTTATCTACAGGTTTCCATCTATGGATTCAACCAACCGCAGATCAAAAATATTTGAAAAAAAAATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCC... | benign | 186,340 |
Mutation found at chromosome 11 position 108326064, gene ATM: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCATCTATGGATTCAACCAACCGCAGATCAAAAATATTTGAAAAAAAAATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAAC... | TCCATCTATGGATTCAACCAACCGCAGATCAAAAATATTTGAAAAAAAAATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAAC... | pathogenic | 186,351 |
Variant at chromosome position 108326078, chromosome 11, gene ATM: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAACCAACCGCAGATCAAAAATATTTGAAAAAAAAATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTT... | CAACCAACCGCAGATCAAAAATATTTGAAAAAAAAATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTT... | pathogenic | 186,353 |
Variant at chromosome 11, position 108326086, gene ATM: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CGCAGATCAAAAATATTTGAAAAAAAAATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAA... | CGCAGATCAAAAATATTTGAAAAAAAAATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAA... | pathogenic | 186,356 |
Is the variant located on chromosome 11 at position 108326088, gene ATM, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGATCAAAAATATTTGAAAAAAAAATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAA... | CAGATCAAAAATATTTGAAAAAAAAATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAA... | pathogenic | 186,358 |
Evaluate if the mutation on chromosome 11 at position 108326099 in ATM is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATTTGAAAAAAAAATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTAT... | TATTTGAAAAAAAAATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTAT... | pathogenic | 186,365 |
Clinical classification of chromosome 11, position 108326112, gene ATM: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome'] | AATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGA... | AATTTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGA... | pathogenic | 186,368 |
Regarding the variant at chromosome 11 and position 108326115, affecting gene ATM: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTT... | TTTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTT... | pathogenic | 186,370 |
Chromosome 11, position 108326116, gene ATM: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Cerebellar_ataxia', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Seizure'] | TTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTA... | TTAAAGAATAGGGTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTA... | pathogenic | 186,371 |
Assess the variant on chromosome 11, position 108326128, impacting ATM: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAAT... | GTATAACACTTATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAAT... | pathogenic | 186,373 |
Clinically, how would you classify the variant at chromosome 11, position 108326138, gene ATM: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATAC... | TATTTACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATAC... | pathogenic | 186,377 |
Is the genetic mutation found on chromosome 11 at position 108326143, within the gene ATM, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTT... | ACATAGCATTTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTT... | pathogenic | 186,381 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108326152, gene ATM. What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTC... | TTACATTATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTC... | pathogenic | 186,386 |
Clinical significance of chromosome 11, position 108326158, gene ATM: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | TATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTC... | TATAGTAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTC... | pathogenic | 186,387 |
For chromosome 11, position 108326163, gene ATM: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTCTTTCT... | TAGGTATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTCTTTCT... | pathogenic | 186,390 |
A genetic alteration at chromosome 11, position 108326168, in gene ATM—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['ATM-related_disorder'] | ATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTCTTTCTAATAT... | ATAATATGTAATTAGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTCTTTCTAATAT... | pathogenic | 186,392 |
Classify the chromosome 11 variant at position 108326181 affecting gene ATM as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTCTTTCTAATATGATATCATATCTA... | AGAGATTTATGTATAACCTGTGCACATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTCTTTCTAATATGATATCATATCTA... | pathogenic | 186,400 |
Determine if the mutation at chromosome 11, position 108326206 in gene ATM is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['ATM-related_cancer_predisposition'] | ATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTCTTTCTAATATGATATCATATCTAATATCAGTAGATATGGTCCAACGAT... | ATTCTCCTATTACACGTAATCTAGAGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTCTTTCTAATATGATATCATATCTAATATCAGTAGATATGGTCCAACGAT... | pathogenic | 186,404 |
Is the chromosome 11, position 108326230 variant in ATM clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTCTTTCTAATATGATATCATATCTAATATCAGTAGATATGGTCCAACGATCGAAAGTTCTTTGGGGTCTTCAAT... | AGGTTATGTGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTCTTTCTAATATGATATCATATCTAATATCAGTAGATATGGTCCAACGATCGAAAGTTCTTTGGGGTCTTCAAT... | benign | 186,411 |
Clinical classification of chromosome 11, position 108326238, gene ATM: benign or pathogenic? Disease(s) if pathogenic? | benign | TGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTCTTTCTAATATGATATCATATCTAATATCAGTAGATATGGTCCAACGATCGAAAGTTCTTTGGGGTCTTCAATAATTTGTT... | TGTAATACTTTTTGGAAATGTTTAATAAAAGCACAATCTAGAGGTTACGTGTAATAGGAAAATGCCCTGCCATTTTAAATAAGGGACTTTGAACATCAGCATTATCAAGGTGTCTTGGAACCAATTTTCTGCAGATACAGAGAAACTACTGTAGTTATTTTTCCTAAAAATTGTTATTTATGATATATAGTAGATTTATTATTTTTGAATAAATTAATACATTTTAGATTTTTCTCAGTCTTTCTAATATGATATCATATCTAATATCAGTAGATATGGTCCAACGATCGAAAGTTCTTTGGGGTCTTCAATAATTTGTT... | benign | 186,414 |
Is the variant located on chromosome 11 at position 108327633, gene ATM, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCCTTTTATTATTTAAAAAACAGAAAGCCTGAGGGAAAAAGAAATGTCATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGG... | TTCCTTTTATTATTTAAAAAACAGAAAGCCTGAGGGAAAAAGAAATGTCATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGG... | pathogenic | 186,420 |
Variant chromosome 11, position 108327664, gene ATM: benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAGGGAAAAAGAAATGTCATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGA... | GAGGGAAAAAGAAATGTCATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGA... | pathogenic | 186,431 |
The genetic variant at chromosome 11, position 108327665, affecting gene ATM: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGGAAAAAGAAATGTCATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGAT... | AGGGAAAAAGAAATGTCATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGAT... | pathogenic | 186,432 |
Is the genetic mutation found on chromosome 11 at position 108327677, within the gene ATM, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGTCATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAA... | ATGTCATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAA... | pathogenic | 186,436 |
Clinical significance of chromosome 11, position 108327678, gene ATM: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTCATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAG... | TGTCATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAG... | pathogenic | 186,437 |
Considering the genetic mutation at chromosome 11, position 108327680, impacting ATM: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTA... | TCATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTA... | pathogenic | 186,439 |
The chromosome 11, position 108327681 genetic variant in gene ATM: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTAG... | CATTAAGAGATAGAGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTAG... | pathogenic | 186,441 |
Determine whether the variant at chromosome 11, position 108327694, in gene ATM is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTAGTTAAGTCCTCAAT... | AGATCTCTATTAATATATAGTAAAAATAATTGTTTAAGAGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTAGTTAAGTCCTCAAT... | pathogenic | 186,444 |
For chromosome 11, position 108327732, gene ATM: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTAGTTAAGTCCTCAATGAATGGTAGTTGCTGCTTTCATTATTATTATTATTCAT... | AGTTCCCATTTTGGAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTAGTTAAGTCCTCAATGAATGGTAGTTGCTGCTTTCATTATTATTATTATTCAT... | pathogenic | 186,455 |
Clinically, how would you classify the variant at chromosome 11, position 108327745, gene ATM: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTAGTTAAGTCCTCAATGAATGGTAGTTGCTGCTTTCATTATTATTATTATTCATGGTAGTAGTATCA... | GAATTAGATCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTAGTTAAGTCCTCAATGAATGGTAGTTGCTGCTTTCATTATTATTATTATTCATGGTAGTAGTATCA... | pathogenic | 186,459 |
Clinically, how would you classify the variant at chromosome 11, position 108327753, gene ATM: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTAGTTAAGTCCTCAATGAATGGTAGTTGCTGCTTTCATTATTATTATTATTCATGGTAGTAGTATCAGTAGTAAA... | TCTGACTTTTAAGCCTTGGGCAAGGGTACTTAATCTTTTCTCAACCTCAATTTCCTGGTTATAAAATGAGAAGATACGTAACTTACTATATTGATAACAATTCAGTGATTTTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTAGTTAAGTCCTCAATGAATGGTAGTTGCTGCTTTCATTATTATTATTATTCATGGTAGTAGTATCAGTAGTAAA... | pathogenic | 186,462 |
A genetic alteration at chromosome 11, position 108329071, in gene ATM—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCACCATGTTGGCAAGACTGGTCTCGAACTCCTGAGCTCAGGCAATCTACCCGCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGA... | TCACCATGTTGGCAAGACTGGTCTCGAACTCCTGAGCTCAGGCAATCTACCCGCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGA... | pathogenic | 186,489 |
Is the genetic variant on chromosome 11, position 108329083, gene ATM, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAAGACTGGTCTCGAACTCCTGAGCTCAGGCAATCTACCCGCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAA... | CAAGACTGGTCTCGAACTCCTGAGCTCAGGCAATCTACCCGCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAA... | pathogenic | 186,491 |
Chromosome 11, position 108329090, gene ATM: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GGTCTCGAACTCCTGAGCTCAGGCAATCTACCCGCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATG... | GGTCTCGAACTCCTGAGCTCAGGCAATCTACCCGCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATG... | pathogenic | 186,494 |
Variant at chromosome position 108329091, chromosome 11, gene ATM: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GTCTCGAACTCCTGAGCTCAGGCAATCTACCCGCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGA... | GTCTCGAACTCCTGAGCTCAGGCAATCTACCCGCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGA... | pathogenic | 186,495 |
Variant in ATM, chromosome 11, position 108329116—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TCTACCCGCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAA... | TCTACCCGCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAA... | pathogenic | 186,507 |
Considering the variant on chromosome 11, location 108329123, involving gene ATM, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCT... | GCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCT... | pathogenic | 186,510 |
Does the variant impacting ATM on chromosome 11, position 108329130, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATAT... | CCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATAT... | pathogenic | 186,513 |
Regarding the variant at chromosome 11 and position 108329132, affecting gene ATM: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATAT... | TCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATAT... | pathogenic | 186,515 |
Gene mutation in ATM at chromosome 11, position 108329166—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | ACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATG... | ACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATG... | pathogenic | 186,523 |
For chromosome 11, position 108329174, gene ATM: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAAT... | CCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAAT... | pathogenic | 186,528 |
Assess the variant on chromosome 11, position 108329198, impacting ATM: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATT... | GGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATT... | pathogenic | 186,534 |
Is the chromosome 11, position 108329221 variant in ATM clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTTCCTACATGGGATTATTAAAATA... | TGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTTCCTACATGGGATTATTAAAATA... | pathogenic | 186,541 |
Is the chromosome 11, position 108329227 variant in ATM clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTTCCTACATGGGATTATTAAAATAGTTGTA... | TAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTTCCTACATGGGATTATTAAAATAGTTGTA... | pathogenic | 186,542 |
Considering the genetic mutation at chromosome 11, position 108329227, impacting ATM: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Familial_colorectal_cancer_type_X'] | TAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTTCCTACATGGGATTATTAAAATAGTTGTA... | TAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTTCCTACATGGGATTATTAAAATAGTTGTA... | pathogenic | 186,543 |
Chromosome 11, position 108329229, gene ATM: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTTCCTACATGGGATTATTAAAATAGTTGTATG... | GAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTTCCTACATGGGATTATTAAAATAGTTGTATG... | pathogenic | 186,544 |
A genetic alteration at chromosome 11, position 108330202, in gene ATM—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TTTCTCCCTCTTATTCCTTTAGATTCACTAATTTTGGAAATAGTTACCTCACTAAATAAGTGTAACATGAAACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCT... | TTTCTCCCTCTTATTCCTTTAGATTCACTAATTTTGGAAATAGTTACCTCACTAAATAAGTGTAACATGAAACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCT... | benign | 186,556 |
Classify the chromosome 11 variant at position 108330215 affecting gene ATM as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCCTTTAGATTCACTAATTTTGGAAATAGTTACCTCACTAAATAAGTGTAACATGAAACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGAT... | TTCCTTTAGATTCACTAATTTTGGAAATAGTTACCTCACTAAATAAGTGTAACATGAAACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGAT... | pathogenic | 186,563 |
Gene ATM variant at chromosome 11, position 108330215—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'] | TTCCTTTAGATTCACTAATTTTGGAAATAGTTACCTCACTAAATAAGTGTAACATGAAACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGAT... | TTCCTTTAGATTCACTAATTTTGGAAATAGTTACCTCACTAAATAAGTGTAACATGAAACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGAT... | pathogenic | 186,564 |
Is the genetic change at chromosome 11, position 108330264, within gene ATM benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAACATGAAACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACC... | TAACATGAAACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACC... | pathogenic | 186,579 |
Determine whether the variant at chromosome 11, position 108330271, in gene ATM is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCA... | AAACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCA... | pathogenic | 186,583 |
Regarding the variant at chromosome 11 and position 108330273, affecting gene ATM: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGC... | ACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGC... | pathogenic | 186,584 |
Determine if the mutation at chromosome 11, position 108330293 in gene ATM is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTA... | TCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTA... | pathogenic | 186,588 |
Is the genetic change at chromosome 11, position 108330308, within gene ATM benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTT... | TCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTT... | pathogenic | 186,592 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108330322, gene ATM: what disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTT... | TCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTT... | pathogenic | 186,596 |
Variant chromosome 11, position 108330341, gene ATM: benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTTACAAGTATTAGCTGTCTGG... | CTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTTACAAGTATTAGCTGTCTGG... | pathogenic | 186,602 |
Gene mutation in ATM at chromosome 11, position 108330353—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTTACAAGTATTAGCTGTCTGGGTTATTTCTACA... | GGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTTACAAGTATTAGCTGTCTGGGTTATTTCTACA... | pathogenic | 186,606 |
Classify the chromosome 11 variant at position 108330370 affecting gene ATM as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTTACAAGTATTAGCTGTCTGGGTTATTTCTACACTGTCAAAGTTGTTTTG... | CTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTTACAAGTATTAGCTGTCTGGGTTATTTCTACACTGTCAAAGTTGTTTTG... | pathogenic | 186,611 |
Variant at chromosome 11, position 108330412, gene ATM: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTTACAAGTATTAGCTGTCTGGGTTATTTCTACACTGTCAAAGTTGTTTTGAAAAGTCAAGAAAATACCATAGTTCAGGGCTGTCCAATCTTT... | AGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTTACAAGTATTAGCTGTCTGGGTTATTTCTACACTGTCAAAGTTGTTTTGAAAAGTCAAGAAAATACCATAGTTCAGGGCTGTCCAATCTTT... | pathogenic | 186,617 |
Does the variant impacting ATM on chromosome 11, position 108330420, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTTACAAGTATTAGCTGTCTGGGTTATTTCTACACTGTCAAAGTTGTTTTGAAAAGTCAAGAAAATACCATAGTTCAGGGCTGTCCAATCTTTTGGCTTCC... | AAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTTACAAGTATTAGCTGTCTGGGTTATTTCTACACTGTCAAAGTTGTTTTGAAAAGTCAAGAAAATACCATAGTTCAGGGCTGTCCAATCTTTTGGCTTCC... | pathogenic | 186,618 |
Variant in gene ATM, located at chromosome 11 position 108331427: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGGTCTTTTGGGTTCTTTTCGGTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCA... | TGGTCTTTTGGGTTCTTTTCGGTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCA... | benign | 186,627 |
Gene ATM variant at chromosome 11, position 108331427—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGGTCTTTTGGGTTCTTTTCGGTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCA... | TGGTCTTTTGGGTTCTTTTCGGTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCA... | benign | 186,628 |
The chromosome 11, position 108331435 genetic variant in gene ATM: benign or pathogenic? If pathogenic, indicate disease(s). | benign | TGGGTTCTTTTCGGTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCC... | TGGGTTCTTTTCGGTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCC... | benign | 186,631 |
Classify the chromosome 11 variant at position 108331441 affecting gene ATM as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | CTTTTCGGTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTG... | CTTTTCGGTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTG... | pathogenic | 186,633 |
Considering the variant on chromosome 11, location 108331441, involving gene ATM, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Familial_colorectal_cancer_type_X', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTTTTCGGTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTG... | CTTTTCGGTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTG... | pathogenic | 186,634 |
Clinically, how would you classify the variant at chromosome 11, position 108331453, gene ATM: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTAC... | TGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTAC... | pathogenic | 186,641 |
A genetic variant at chromosome 11, position 108331459, affecting gene ATM—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGT... | TTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGT... | pathogenic | 186,642 |
A genetic alteration at chromosome 11, position 108331466, in gene ATM—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['ATM-related_cancer_predisposition', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCAC... | TTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCAC... | pathogenic | 186,645 |
Variant at chromosome 11, position 108331473, gene ATM: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia-telangiectasia_syndrome'] | GAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAG... | GAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAG... | pathogenic | 186,651 |
Located at chromosome 11 position 108331477, the variant affecting gene ATM—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATG... | CAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATG... | pathogenic | 186,652 |
The mutation impacting ATM on chromosome 11 at position 108331483: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATGTAAGAT... | CTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATGTAAGAT... | pathogenic | 186,653 |
Is the genetic variant on chromosome 11, position 108331490, gene ATM, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATGTAAGATATTGACG... | TGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATGTAAGATATTGACG... | pathogenic | 186,654 |
A genetic variant on chromosome 11, position 108331535, affects the gene ATM. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATGTAAGATATTGACGTGTTCTTTTGTGAATAATTCATGCTCTGCTTCTAAGTTCATTGTG... | TCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATGTAAGATATTGACGTGTTCTTTTGTGAATAATTCATGCTCTGCTTCTAAGTTCATTGTG... | pathogenic | 186,666 |
Evaluate this variant at chromosome 11, position 108331553, gene ATM: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATGTAAGATATTGACGTGTTCTTTTGTGAATAATTCATGCTCTGCTTCTAAGTTCATTGTGGAGAATATAGATATTAGC... | CCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATGTAAGATATTGACGTGTTCTTTTGTGAATAATTCATGCTCTGCTTCTAAGTTCATTGTGGAGAATATAGATATTAGC... | pathogenic | 186,671 |
Chromosome 11, position 108331557, gene ATM: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATGTAAGATATTGACGTGTTCTTTTGTGAATAATTCATGCTCTGCTTCTAAGTTCATTGTGGAGAATATAGATATTAGCTTTC... | GACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATGTAAGATATTGACGTGTTCTTTTGTGAATAATTCATGCTCTGCTTCTAAGTTCATTGTGGAGAATATAGATATTAGCTTTC... | pathogenic | 186,673 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108331861, gene ATM: what disease(s) if pathogenic? | benign | ATAGATATTAGCTTTCTGTTTTGCTTTTTTGGTTTGTTTGTTGGTATCATAGTGGAAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATT... | ATAGATATTAGCTTTCTGTTTTGCTTTTTTGGTTTGTTTGTTGGTATCATAGTGGAAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATT... | benign | 186,682 |
Is the genetic variant on chromosome 11, position 108331879, gene ATM, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TTTTGCTTTTTTGGTTTGTTTGTTGGTATCATAGTGGAAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGT... | TTTTGCTTTTTTGGTTTGTTTGTTGGTATCATAGTGGAAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGT... | pathogenic | 186,693 |
Is the genetic mutation found on chromosome 11 at position 108331884, within the gene ATM, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Breast_and/or_ovarian_cancer', 'Breast_neoplasm', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'T-cell_prolymphocytic_leukemia'] | CTTTTTTGGTTTGTTTGTTGGTATCATAGTGGAAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGAT... | CTTTTTTGGTTTGTTTGTTGGTATCATAGTGGAAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGAT... | pathogenic | 186,694 |
Variant in ATM, chromosome 11, position 108331914—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGAAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTT... | GGAAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTT... | pathogenic | 186,698 |
Evaluate this variant at chromosome 11, position 108331916, gene ATM: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGT... | AAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGT... | pathogenic | 186,700 |
Is chromosome 11, position 108331916, gene ATM variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Familial_colorectal_cancer_type_X', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | AAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGT... | AAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGT... | pathogenic | 186,701 |
A genetic alteration at chromosome 11, position 108331940, in gene ATM—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCA... | ATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCA... | pathogenic | 186,708 |
A genetic variant on chromosome 11, position 108331945, affects the gene ATM. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATA... | AAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATA... | pathogenic | 186,710 |
A genetic variant at chromosome 11, position 108331948, affecting gene ATM—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ataxia-telangiectasia_syndrome'] | AGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATACAC... | AGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATACAC... | pathogenic | 186,711 |
Does the variant impacting ATM on chromosome 11, position 108331950, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | TTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATACACAG... | TTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATACACAG... | pathogenic | 186,713 |
Variant at chromosome position 108331953, chromosome 11, gene ATM: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATACACAGTAA... | CCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATACACAGTAA... | pathogenic | 186,714 |
The mutation impacting ATM on chromosome 11 at position 108332012: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATACACAGTAAAGGTTCAGCGAGAGCTGGAGTTGGATGAATTAGCCCTGCGTGCACTGAAAGAGGATCGT... | TGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATACACAGTAAAGGTTCAGCGAGAGCTGGAGTTGGATGAATTAGCCCTGCGTGCACTGAAAGAGGATCGT... | pathogenic | 186,727 |
Located at chromosome 11 position 108332013, the variant affecting gene ATM—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATACACAGTAAAGGTTCAGCGAGAGCTGGAGTTGGATGAATTAGCCCTGCGTGCACTGAAAGAGGATCGTA... | GTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATACACAGTAAAGGTTCAGCGAGAGCTGGAGTTGGATGAATTAGCCCTGCGTGCACTGAAAGAGGATCGTA... | pathogenic | 186,729 |
Variant in gene ATM, located at chromosome 11 position 108332740: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGGTCCTATGTCTTTGCAGTTACCATAGGAGAGGGTCTAGAATGGGGCATTAGATTGGAGGATTTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAA... | TGGTCCTATGTCTTTGCAGTTACCATAGGAGAGGGTCTAGAATGGGGCATTAGATTGGAGGATTTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAA... | benign | 186,747 |
Determine if the mutation at chromosome 11, position 108332747 in gene ATM is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ATGTCTTTGCAGTTACCATAGGAGAGGGTCTAGAATGGGGCATTAGATTGGAGGATTTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAA... | ATGTCTTTGCAGTTACCATAGGAGAGGGTCTAGAATGGGGCATTAGATTGGAGGATTTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAA... | benign | 186,752 |
Is the genetic change at chromosome 11, position 108332764, within gene ATM benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATAGGAGAGGGTCTAGAATGGGGCATTAGATTGGAGGATTTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACA... | ATAGGAGAGGGTCTAGAATGGGGCATTAGATTGGAGGATTTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACA... | pathogenic | 186,760 |
Clinical significance of chromosome 11, position 108332766, gene ATM: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGAGAGGGTCTAGAATGGGGCATTAGATTGGAGGATTTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGT... | AGGAGAGGGTCTAGAATGGGGCATTAGATTGGAGGATTTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGT... | pathogenic | 186,762 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108332800, gene ATM. What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATTTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTT... | GATTTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTT... | pathogenic | 186,768 |
Variant at chromosome position 108332803, chromosome 11, gene ATM: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTG... | TTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTG... | pathogenic | 186,769 |
Variant in ATM, chromosome 11, position 108332806—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCC... | GAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCC... | pathogenic | 186,771 |
Classify the chromosome 11 variant at position 108332808 affecting gene ATM as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTA... | AAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTA... | pathogenic | 186,773 |
Variant at chromosome position 108332830, chromosome 11, gene ATM: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCAT... | CACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCAT... | pathogenic | 186,777 |
Variant at chromosome position 108332848, chromosome 11, gene ATM: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTT... | CTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTT... | pathogenic | 186,781 |
Clinically, how would you classify the variant at chromosome 11, position 108332850, gene ATM: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTTCT... | GCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTTCT... | pathogenic | 186,782 |
Is the chromosome 11, position 108332852 variant in ATM clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTTCTCA... | TGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTTCTCA... | pathogenic | 186,783 |
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