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 chromosome 11, position 108353824, gene ATM variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTTCTTCCCTGTTTCTGGGACTCCAGTAACCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGCAGAAGTTTAAGGAAGATCCTGAGTCTCGTAATAACTAAA... | GGTTCTTCCCTGTTTCTGGGACTCCAGTAACCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGCAGAAGTTTAAGGAAGATCCTGAGTCTCGTAATAACTAAA... | pathogenic | 187,208 |
A mutation at chromosome position 108353854 on chromosome 11 in gene ATM: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGCAGAAGTTTAAGGAAGATCCTGAGTCTCGTAATAACTAAAAGGTGTAGGTGTCAATTGAAAATCATTAGG... | CCCTATGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGCAGAAGTTTAAGGAAGATCCTGAGTCTCGTAATAACTAAAAGGTGTAGGTGTCAATTGAAAATCATTAGG... | pathogenic | 187,219 |
Mutation found at chromosome 11 position 108353859, gene ATM: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGCAGAAGTTTAAGGAAGATCCTGAGTCTCGTAATAACTAAAAGGTGTAGGTGTCAATTGAAAATCATTAGGCATAC... | TGTTAGGCCTTTGCAATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGCAGAAGTTTAAGGAAGATCCTGAGTCTCGTAATAACTAAAAGGTGTAGGTGTCAATTGAAAATCATTAGGCATAC... | pathogenic | 187,221 |
Is the genetic change at chromosome 11, position 108353873, within gene ATM benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome'] | AATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGCAGAAGTTTAAGGAAGATCCTGAGTCTCGTAATAACTAAAAGGTGTAGGTGTCAATTGAAAATCATTAGGCATACCTGGAACCAGGAAA... | AATGTATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGCAGAAGTTTAAGGAAGATCCTGAGTCTCGTAATAACTAAAAGGTGTAGGTGTCAATTGAAAATCATTAGGCATACCTGGAACCAGGAAA... | pathogenic | 187,224 |
Gene ATM variant at chromosome 11, position 108353878—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'] | ATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGCAGAAGTTTAAGGAAGATCCTGAGTCTCGTAATAACTAAAAGGTGTAGGTGTCAATTGAAAATCATTAGGCATACCTGGAACCAGGAAAATCTC... | ATCATTTATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGCAGAAGTTTAAGGAAGATCCTGAGTCTCGTAATAACTAAAAGGTGTAGGTGTCAATTGAAAATCATTAGGCATACCTGGAACCAGGAAAATCTC... | pathogenic | 187,227 |
A genetic variant at chromosome 11, position 108353885, affecting gene ATM—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | ATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGCAGAAGTTTAAGGAAGATCCTGAGTCTCGTAATAACTAAAAGGTGTAGGTGTCAATTGAAAATCATTAGGCATACCTGGAACCAGGAAAATCTCAACTTTA... | ATACTGTTACCTGCTAGTCTATATTTTCTAACCTTTTTTTCCTTTTTTCTGACTCACTCCTTGGTGTCAGTGGACATATCCGGGGAACCTGGACTTTCAGCCCTACTCAGCTATAGCAAGCCCTTTCCCTATTGAGTGTCAGTGGAGGCCAATTGGGGAATCTAGTCTTCTGCCCTTACCTAGCAGTAACAAGGTGGTGACTCCCAAAGGCATTAAAGGCAGAAGTTTAAGGAAGATCCTGAGTCTCGTAATAACTAAAAGGTGTAGGTGTCAATTGAAAATCATTAGGCATACCTGGAACCAGGAAAATCTCAACTTTA... | benign | 187,232 |
A mutation at chromosome position 108354797 on chromosome 11 in gene ATM: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ATATACATAACAATTTGGATGAATCTCCAGAGAATTAGGCTGAGTGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAA... | ATATACATAACAATTTGGATGAATCTCCAGAGAATTAGGCTGAGTGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAA... | benign | 187,250 |
Classify the chromosome 11 variant at position 108354799 affecting gene ATM as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ATACATAACAATTTGGATGAATCTCCAGAGAATTAGGCTGAGTGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATG... | ATACATAACAATTTGGATGAATCTCCAGAGAATTAGGCTGAGTGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATG... | benign | 187,251 |
Is the genetic variant on chromosome 11, position 108354809, gene ATM, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | ATTTGGATGAATCTCCAGAGAATTAGGCTGAGTGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGC... | ATTTGGATGAATCTCCAGAGAATTAGGCTGAGTGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGC... | pathogenic | 187,254 |
Gene mutation in ATM at chromosome 11, position 108354824—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGAGAATTAGGCTGAGTGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTT... | CAGAGAATTAGGCTGAGTGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTT... | pathogenic | 187,259 |
Chromosome 11, position 108354837, gene ATM: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGAGTGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTT... | TGAGTGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTT... | pathogenic | 187,263 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108354839 in gene ATM: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AGTGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTTCT... | AGTGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTTCT... | pathogenic | 187,264 |
Gene ATM variant at chromosome 11, position 108354841—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'] | TGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTTCTTA... | TGTAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTTCTTA... | pathogenic | 187,265 |
Evaluate this variant at chromosome 11, position 108354843, gene ATM: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTTCTTACA... | TAAAAAGCTATTCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTTCTTACA... | pathogenic | 187,267 |
Determine if the mutation at chromosome 11, position 108354854 in gene ATM is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTTCTTACAACTCGAAGTGA... | TCCCAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTTCTTACAACTCGAAGTGA... | pathogenic | 187,272 |
Variant in gene ATM, located at chromosome 11 position 108354857: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTTCTTACAACTCGAAGTGAACA... | CAAAAGGTTACATACTGTATGATTATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTTCTTACAACTCGAAGTGAACA... | pathogenic | 187,274 |
Benign or pathogenic: chromosome 11, position 108354881, gene ATM variant? Disease(s) if pathogenic? | benign | ATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTTCTTACAACTCGAAGTGAACATATAATTATCTCATAAAATGTCAT... | ATTCCACTTCCATTTATATAACATACTTGAAATGACAAAATTATAAAAATGGAGAACAGATTAGTGGCTGCTAGAAAAATAGGGGGTCAGAGGGCTGGGTGATAGGCTATGGGAGGGAAATAGGTGCAGCCGTAAAGGGCAGTATGAAGGATCCTTATGATAGGAATATTATATATCTTGACTGCATCGATGTCAGTAGTAGTATAGTTTTGCAGGACATTACAGTTGGGGTGAAATGGGGAAAAGGCATAAGGGATGATCTTTTCTGTATGATTTCTTACAACTCGAAGTGAACATATAATTATCTCATAAAATGTCAT... | benign | 187,285 |
Evaluate this variant at chromosome 11, position 108365066, gene ATM: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TGTATTTTACACTCATCTACCTAATCTTCCCTCCGTAAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTT... | TGTATTTTACACTCATCTACCTAATCTTCCCTCCGTAAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTT... | benign | 187,297 |
The mutation in gene ATM at chromosome 11, position 108365075—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CACTCATCTACCTAATCTTCCCTCCGTAAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCT... | CACTCATCTACCTAATCTTCCCTCCGTAAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCT... | pathogenic | 187,300 |
Is the genetic variant on chromosome 11, position 108365086, gene ATM, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CTAATCTTCCCTCCGTAAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTAT... | CTAATCTTCCCTCCGTAAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTAT... | pathogenic | 187,304 |
Clinical significance of chromosome 11, position 108365095, gene ATM: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTCCGTAAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTC... | CCTCCGTAAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTC... | pathogenic | 187,307 |
Does the variant impacting ATM on chromosome 11, position 108365099, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome'] | CGTAAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGG... | CGTAAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGG... | pathogenic | 187,310 |
Clinically, how would you classify the variant at chromosome 11, position 108365102, gene ATM: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCT... | AAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCT... | pathogenic | 187,311 |
Is the genetic mutation found on chromosome 11 at position 108365102, 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'] | AAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCT... | AAATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCT... | pathogenic | 187,313 |
Regarding the variant found on chromosome 11 at position 108365104 in gene ATM: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Familial_colorectal_cancer_type_X', 'Hereditary_cancer-predisposing_syndrome'] | ATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTC... | ATCTGTCCGAATTTCCCCAAATCATTTGGTGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTC... | pathogenic | 187,314 |
Does the variant impacting ATM on chromosome 11, position 108365133, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCAT... | TGTGATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCAT... | pathogenic | 187,320 |
Is chromosome 11, position 108365137, gene ATM variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | ATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTC... | ATTGTTCCAATCTTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTC... | pathogenic | 187,323 |
Considering the genetic mutation at chromosome 11, position 108365149, impacting ATM: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome'] | TTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATT... | TTCAAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATT... | pathogenic | 187,325 |
A genetic alteration at chromosome 11, position 108365152, in gene ATM—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTA... | AAGAATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTA... | pathogenic | 187,327 |
Is the variant located on chromosome 11 at position 108365155, gene ATM, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGT... | AATAATTTTCCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGT... | pathogenic | 187,330 |
Variant chromosome 11, position 108365164, gene ATM: benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTA... | CCCAGTGATCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTA... | pathogenic | 187,332 |
Variant at chromosome position 108365172, 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'] | TCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATA... | TCTTACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATA... | pathogenic | 187,336 |
Variant in ATM, chromosome 11, position 108365175—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATAT... | TACCACAGTAAGACCCTTTCTGCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATAT... | pathogenic | 187,337 |
Regarding the variant at chromosome 11 and position 108365196, 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'] | GCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGAT... | GCCTTCAGCTTTAGGAGGGTGCTTCTCAATTAGCATCCTGGTTCCCAGTCCTCTGGGACATCATTTCTTTCCTCTCTTGGATTCATTTCTTTTCTTCTCTTAGATTTCATTGAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGAT... | pathogenic | 187,343 |
Does the genetic variant at chromosome 11, position 108365307, impacting gene ATM, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGT... | GAGGCACAGTCACTATTTCTGAACTGATCTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGT... | benign | 187,355 |
A mutation at chromosome position 108365335 on chromosome 11 in gene ATM: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTC... | CTCCCCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTC... | pathogenic | 187,367 |
Located at chromosome 11 position 108365339, the variant affecting gene ATM—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAA... | CCGCTTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAA... | pathogenic | 187,368 |
Is the genetic change at chromosome 11, position 108365343, within gene ATM benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTA... | TTCCTAAGCCCCTCCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTA... | pathogenic | 187,370 |
Mutation found at chromosome 11 position 108365356, gene ATM: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCC... | CCTTCAGAGCACTTTAACCTGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCC... | pathogenic | 187,372 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108365375 in gene ATM: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCA... | TGGGTGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCA... | pathogenic | 187,381 |
Clinically, how would you classify the variant at chromosome 11, position 108365379, gene ATM: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCA... | TGTATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCA... | pathogenic | 187,384 |
Chromosome 11, position 108365381, gene ATM: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAA... | TATTTCCCTTTTCTTTTCAGTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAA... | pathogenic | 187,385 |
Located at chromosome 11 position 108365400, 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'] | GTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGAC... | GTGTATTTGTCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGAC... | pathogenic | 187,391 |
Is the chromosome 11, position 108365409 variant in ATM clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACC... | TCTCTCCTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACC... | pathogenic | 187,394 |
Does the variant on chromosome 11 at location 108365415 affecting gene ATM have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTC... | CTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTC... | pathogenic | 187,395 |
A genetic variant at chromosome 11, position 108365415, affecting gene ATM—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTC... | CTGGCCTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTC... | pathogenic | 187,398 |
The genetic variant at chromosome 11, position 108365420, affecting gene ATM: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTCTAGCT... | CTTCAAGATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTCTAGCT... | pathogenic | 187,400 |
A genetic alteration at chromosome 11, position 108365427, in gene ATM—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTCTAGCTTAATCAG... | ATTTTATTTTCTTCCTAATGGACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTCTAGCTTAATCAG... | pathogenic | 187,403 |
The chromosome 11, position 108365448 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'] | ACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTCTAGCTTAATCAGTCTGTATTCCTTTACTGTTTC... | ACCATTCTCTCCTCTAAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTCTAGCTTAATCAGTCTGTATTCCTTTACTGTTTC... | pathogenic | 187,410 |
Clinically, how would you classify the variant at chromosome 11, position 108365463, gene ATM: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTCTAGCTTAATCAGTCTGTATTCCTTTACTGTTTCCAACCACTTCTGTCT... | AAGATTTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTCTAGCTTAATCAGTCTGTATTCCTTTACTGTTTCCAACCACTTCTGTCT... | pathogenic | 187,415 |
The chromosome 11, position 108365468 genetic variant in gene ATM: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTCTAGCTTAATCAGTCTGTATTCCTTTACTGTTTCCAACCACTTCTGTCTTGTCA... | TTTATGTGTTATGCTAAGGAAATATATCTCTCCCTCTAACTCAGTGATGCTTAGCCAAGAGCAGTTTTGTCCCCTAGAGGACAGTTGGCAATGTCTGGAGGCATTTTTATTGTCACAATTGGGGATGGGAGATGAGGATAGTATTGGCATCTACTGGGTAGAGGCCAGGGATGCTGCTGAACACCTCAGAATGTACAAGTTAGCCCCCACAGCAAAGAAATACCCCATCCAAAATGACAATAGTGCTGAGACTGAGAAACCCTGCTCTAGCTTAATCAGTCTGTATTCCTTTACTGTTTCCAACCACTTCTGTCTTGTCA... | pathogenic | 187,416 |
Does the variant on chromosome 11 at location 110236134 affecting gene RDX (radixin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_24', 'Rare_genetic_deafness'] | CCCTTTTTCTCAAAAGTACTCCAGTTTAGATGTTCAATTATATGGAAGTCTCACCTTTGATGCACTGTAGTCAAAACATTTAATTTGAATTCCCCAGGTTCTAGATCTAACTTCTGGTTCAAAGGAAATACTGGAGTTAAAGGATAAGGTCAATGACACAAGGAAGTAACTAAACAAATATAGGAGGTGAGACATTCTGTAGGTCCCTTCAATAAATCAAAATAATAAAAAGAGAAACTGCCCTCCATTAAAAGAGACTTACAGCAAATACAGACAATGCAAAGTCCTCTGAACACTTGTCTGGCAAATTAGCTATGAGA... | CCCTTTTTCTCAAAAGTACTCCAGTTTAGATGTTCAATTATATGGAAGTCTCACCTTTGATGCACTGTAGTCAAAACATTTAATTTGAATTCCCCAGGTTCTAGATCTAACTTCTGGTTCAAAGGAAATACTGGAGTTAAAGGATAAGGTCAATGACACAAGGAAGTAACTAAACAAATATAGGAGGTGAGACATTCTGTAGGTCCCTTCAATAAATCAAAATAATAAAAAGAGAAACTGCCCTCCATTAAAAGAGACTTACAGCAAATACAGACAATGCAAAGTCCTCTGAACACTTGTCTGGCAAATTAGCTATGAGA... | pathogenic | 187,486 |
Classify the chromosome 11 variant at position 110279761 affecting gene RDX (radixin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CTGTAAAAGAACTTTATATGGCAATTATTTTCTCCCACTGTCTTGCCTTTATATGTTTTTATTGCTGTCTTTCAAGAGCAAAAGTTTTTAATTTTGATTAAGTCCAACTTTTTCTTAATGGTTCAAATTTTCTGTGTATTACATAACAAATTTTCGCCTACTCTAAGATCACAAAAATTTTTTCCTATGTTTTCTTCTAGATGTTTTACAGTTTGAGCTTTTGCATGTAGGTCTATAATCCATTGAGTTTATGTTTGTAAATTGTGAGACAACAGTCAATGTTCATGTTTTTCTGTATGGATAACCCTTTGTGCCAATAC... | CTGTAAAAGAACTTTATATGGCAATTATTTTCTCCCACTGTCTTGCCTTTATATGTTTTTATTGCTGTCTTTCAAGAGCAAAAGTTTTTAATTTTGATTAAGTCCAACTTTTTCTTAATGGTTCAAATTTTCTGTGTATTACATAACAAATTTTCGCCTACTCTAAGATCACAAAAATTTTTTCCTATGTTTTCTTCTAGATGTTTTACAGTTTGAGCTTTTGCATGTAGGTCTATAATCCATTGAGTTTATGTTTGTAAATTGTGAGACAACAGTCAATGTTCATGTTTTTCTGTATGGATAACCCTTTGTGCCAATAC... | benign | 187,500 |
Determine whether the variant at chromosome 11, position 111870381, in gene ALG9 (ALG9 alpha-1,2-mannosyltransferase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ATGATTTGTTCAATGTTCATCTTCTCCACTAAACCACAAGTTTCATTAAGTCAGGGGCTTGGTTACTGTTATAGCCACAGCACTTAATACAGTGTCTACCAAATAAAAGTTGTTTCATTAATGCTTGTTGAATGGTGAATTGGATAAATGATTCTTCTTCAAAAAAAGTTCCCTTTTAACTTCCAATTCATTTTGTCCTTTTCTCAAAACTATACCAGAGACTCACCTCTTGATCAATTGTGATTGCTTCCAGGTTGGTCTGCCCTTACCTTATTAGTTTGTAGAATTCTTGCATGAAATGCAGCTGGCCAGGCATGAAG... | ATGATTTGTTCAATGTTCATCTTCTCCACTAAACCACAAGTTTCATTAAGTCAGGGGCTTGGTTACTGTTATAGCCACAGCACTTAATACAGTGTCTACCAAATAAAAGTTGTTTCATTAATGCTTGTTGAATGGTGAATTGGATAAATGATTCTTCTTCAAAAAAAGTTCCCTTTTAACTTCCAATTCATTTTGTCCTTTTCTCAAAACTATACCAGAGACTCACCTCTTGATCAATTGTGATTGCTTCCAGGTTGGTCTGCCCTTACCTTATTAGTTTGTAGAATTCTTGCATGAAATGCAGCTGGCCAGGCATGAAG... | benign | 187,539 |
Classify the chromosome 11 variant at position 111910307 affecting gene CRYAB (crystallin alpha B) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GCGTTATCCAGAGTTCATTCAGATGTGTTCCAGTCCTTTAAACTGAGAGCTAAAATCAAAGAGGGCAGAGAGAGAGTAACTAATATTCCTTGAACTCTGCCAGCGGCTTTTCCTGCTTCTTCTCCTTAATTTACTTCCTATAATTCCTCTGTACAACTCAGTAACCCATGTTATAAATGGAAAACCTGAAGACCAGAAAGGTTAAGCAACTTGCCTACATTTATACCAGTAGTAAATGGTGAAGTCAGTCATTCTGACTCTAAAATCCTTGGAGCCCTCTAAATCATAATGCAATCATAAATAGATCTGTGGTATCTGTA... | GCGTTATCCAGAGTTCATTCAGATGTGTTCCAGTCCTTTAAACTGAGAGCTAAAATCAAAGAGGGCAGAGAGAGAGTAACTAATATTCCTTGAACTCTGCCAGCGGCTTTTCCTGCTTCTTCTCCTTAATTTACTTCCTATAATTCCTCTGTACAACTCAGTAACCCATGTTATAAATGGAAAACCTGAAGACCAGAAAGGTTAAGCAACTTGCCTACATTTATACCAGTAGTAAATGGTGAAGTCAGTCATTCTGACTCTAAAATCCTTGGAGCCCTCTAAATCATAATGCAATCATAAATAGATCTGTGGTATCTGTA... | benign | 187,562 |
The chromosome 11, position 112086919 genetic variant in gene SDHD: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Paragangliomas_1', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | TCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAGACTTGATAA... | TCATCTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAGACTTGATAA... | pathogenic | 187,652 |
A mutation at chromosome position 112086923 on chromosome 11 in gene SDHD: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Paragangliomas_1', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | CTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAGACTTGATAACAGC... | CTTTCTTAACCCCAAATTTTCTTCTATGCCTTAGGCTTCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAGACTTGATAACAGC... | pathogenic | 187,655 |
Variant at chromosome position 112086960, chromosome 11, gene SDHD: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | TCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAGACTTGATAACAGCCTGATGCTGATCTGACAATGGGTTGATAGCCTTCCCC... | TCGATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAGACTTGATAACAGCCTGATGCTGATCTGACAATGGGTTGATAGCCTTCCCC... | pathogenic | 187,669 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 112086963, gene SDHD: what disease(s) if pathogenic? | benign | ATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAGACTTGATAACAGCCTGATGCTGATCTGACAATGGGTTGATAGCCTTCCCCCAC... | ATGGTTCTTCCAACCCCCTTAATATGGCTTAGGGTGGTTTTTCAAAACCTACAATCCCCCATTTGCACTACTGGCCATGGAACATTTATTTCTAGTGTTCCTGCCAATCAGAGATCTCTATATTAAATTCTAAAATGGGATTAAAAGAAGAGTTGGAGAATTCACACTTATTGAGTAACTGATGTCATACAACCTGGAATTTCTGAATTCCAAATAAATAAATTTCACTCTTTGAACATTTCATCTTTTACTTTTTAGCACCAACAGACTTGATAACAGCCTGATGCTGATCTGACAATGGGTTGATAGCCTTCCCCCAC... | benign | 187,670 |
Located at chromosome 11 position 112087801, the variant affecting gene SDHD (succinate dehydrogenase complex subunit D)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CTCATTTTATTCCAAACCTATCCCCTAGACAAGGTAATTCTTCCATTAACCTTTTGGGGGTTATGGATCCACTCCCCAGAAAAATGCACATACAGGCACAGAAATTATGTGCACTGTCATTAGAATGTTCAGGGCCCAAAGATTTCTAGCCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTC... | CTCATTTTATTCCAAACCTATCCCCTAGACAAGGTAATTCTTCCATTAACCTTTTGGGGGTTATGGATCCACTCCCCAGAAAAATGCACATACAGGCACAGAAATTATGTGCACTGTCATTAGAATGTTCAGGGCCCAAAGATTTCTAGCCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTC... | benign | 187,672 |
Assess the variant on chromosome 11, position 112087856, impacting SDHD (succinate dehydrogenase complex subunit D): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | GGGGGTTATGGATCCACTCCCCAGAAAAATGCACATACAGGCACAGAAATTATGTGCACTGTCATTAGAATGTTCAGGGCCCAAAGATTTCTAGCCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTCCAAGGTCATGTAGCCAGCAAGAAGTCAGGCCGCGTTAGAACCATGTCCGAAGGGC... | GGGGGTTATGGATCCACTCCCCAGAAAAATGCACATACAGGCACAGAAATTATGTGCACTGTCATTAGAATGTTCAGGGCCCAAAGATTTCTAGCCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTCCAAGGTCATGTAGCCAGCAAGAAGTCAGGCCGCGTTAGAACCATGTCCGAAGGGC... | pathogenic | 187,675 |
A genetic variant at chromosome 11, position 112087860, affecting gene SDHD (succinate dehydrogenase complex subunit D)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Mitochondrial_complex_2_deficiency,_nuclear_type_3', 'Paragangliomas_1', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | GTTATGGATCCACTCCCCAGAAAAATGCACATACAGGCACAGAAATTATGTGCACTGTCATTAGAATGTTCAGGGCCCAAAGATTTCTAGCCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTCCAAGGTCATGTAGCCAGCAAGAAGTCAGGCCGCGTTAGAACCATGTCCGAAGGGCTCCA... | GTTATGGATCCACTCCCCAGAAAAATGCACATACAGGCACAGAAATTATGTGCACTGTCATTAGAATGTTCAGGGCCCAAAGATTTCTAGCCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTCCAAGGTCATGTAGCCAGCAAGAAGTCAGGCCGCGTTAGAACCATGTCCGAAGGGCTCCA... | pathogenic | 187,676 |
Is the variant located on chromosome 11 at position 112087895, gene SDHD (succinate dehydrogenase complex subunit D), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_2_deficiency,_nuclear_type_3', 'Paragangliomas_1', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | GGCACAGAAATTATGTGCACTGTCATTAGAATGTTCAGGGCCCAAAGATTTCTAGCCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTCCAAGGTCATGTAGCCAGCAAGAAGTCAGGCCGCGTTAGAACCATGTCCGAAGGGCTCCAAACCCTTGTTCTACATCCATAGTCTACAGCGACTA... | GGCACAGAAATTATGTGCACTGTCATTAGAATGTTCAGGGCCCAAAGATTTCTAGCCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTCCAAGGTCATGTAGCCAGCAAGAAGTCAGGCCGCGTTAGAACCATGTCCGAAGGGCTCCAAACCCTTGTTCTACATCCATAGTCTACAGCGACTA... | pathogenic | 187,686 |
Chromosome 11, position 112087912, gene SDHD (succinate dehydrogenase complex subunit D): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | CACTGTCATTAGAATGTTCAGGGCCCAAAGATTTCTAGCCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTCCAAGGTCATGTAGCCAGCAAGAAGTCAGGCCGCGTTAGAACCATGTCCGAAGGGCTCCAAACCCTTGTTCTACATCCATAGTCTACAGCGACTACTTCAGAGTCCACCTTC... | CACTGTCATTAGAATGTTCAGGGCCCAAAGATTTCTAGCCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTCCAAGGTCATGTAGCCAGCAAGAAGTCAGGCCGCGTTAGAACCATGTCCGAAGGGCTCCAAACCCTTGTTCTACATCCATAGTCTACAGCGACTACTTCAGAGTCCACCTTC... | pathogenic | 187,690 |
Mutation found at chromosome 11 position 112087938, gene SDHD (succinate dehydrogenase complex subunit D): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | AAAGATTTCTAGCCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTCCAAGGTCATGTAGCCAGCAAGAAGTCAGGCCGCGTTAGAACCATGTCCGAAGGGCTCCAAACCCTTGTTCTACATCCATAGTCTACAGCGACTACTTCAGAGTCCACCTTCCTCCGATAATGTTCTAGTCGTTTTCA... | AAAGATTTCTAGCCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTCCAAGGTCATGTAGCCAGCAAGAAGTCAGGCCGCGTTAGAACCATGTCCGAAGGGCTCCAAACCCTTGTTCTACATCCATAGTCTACAGCGACTACTTCAGAGTCCACCTTCCTCCGATAATGTTCTAGTCGTTTTCA... | pathogenic | 187,696 |
The mutation in gene SDHD (succinate dehydrogenase complex subunit D) at chromosome 11, position 112087950—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Paraganglioma', 'Paragangliomas_1', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | CCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTCCAAGGTCATGTAGCCAGCAAGAAGTCAGGCCGCGTTAGAACCATGTCCGAAGGGCTCCAAACCCTTGTTCTACATCCATAGTCTACAGCGACTACTTCAGAGTCCACCTTCCTCCGATAATGTTCTAGTCGTTTTCAAATACATTGTCG... | CCAGGGTTCTTGCTGGTCATCCGAGCACCCTCTTCCTCCCACCCAAAAGGAAAAAACCATTTTACCAAGAGCTTACTATTTGTGAGGCTGGGTACTAAGAAATCAGTTCTCTCTAAGGTCCTCAAGGATAGCTGTCATCACCTCCCATTTAAGAGGCGTGATTATGTAGTCCAAGGTCATGTAGCCAGCAAGAAGTCAGGCCGCGTTAGAACCATGTCCGAAGGGCTCCAAACCCTTGTTCTACATCCATAGTCTACAGCGACTACTTCAGAGTCCACCTTCCTCCGATAATGTTCTAGTCGTTTTCAAATACATTGTCG... | pathogenic | 187,700 |
Is the genetic mutation found on chromosome 11 at position 112088868, within the gene SDHD (succinate dehydrogenase complex subunit D), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_1', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | CTTCCCTGTTTTCTTTCGTCGTCGTGGGTGGGAATTGTCGCCTAAGTGGTTCCGGGTTGGTGGATGACCTTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTG... | CTTCCCTGTTTTCTTTCGTCGTCGTGGGTGGGAATTGTCGCCTAAGTGGTTCCGGGTTGGTGGATGACCTTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTG... | pathogenic | 187,709 |
The mutation in gene SDHD (succinate dehydrogenase complex subunit D) at chromosome 11, position 112088883—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_1', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | TCGTCGTCGTGGGTGGGAATTGTCGCCTAAGTGGTTCCGGGTTGGTGGATGACCTTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTG... | TCGTCGTCGTGGGTGGGAATTGTCGCCTAAGTGGTTCCGGGTTGGTGGATGACCTTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTG... | pathogenic | 187,714 |
Clinical classification of chromosome 11, position 112088937, gene SDHD (succinate dehydrogenase complex subunit D): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_1', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | TTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTA... | TTGAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTA... | pathogenic | 187,722 |
Classify the chromosome 11 variant at position 112088977 affecting gene SDHD (succinate dehydrogenase complex subunit D) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | AGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCC... | AGTGCCGTTTGCGGTGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCC... | pathogenic | 187,730 |
Does the genetic variant at chromosome 11, position 112088991, impacting gene SDHD (succinate dehydrogenase complex subunit D), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | TGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGAATGCTCCCCA... | TGCCCTAGGAGGCCGAGGTGAGGGGTCTTCCCACCCTGAGGTGCTTAGCGTAGCCTCCAGCCAGGGAAGGGGATGGAAGTGAGGACTCATCTGCCGGGTGGGAGATCTCTTGAGGAGAAGAAAATACCGAAATCACAGCAATGACCACTGTAGTCTAGGGGTCCAGATGTTTACCCGAAGGTATATTTCACTTGCTGTGAGCTGACGAGTTGAGGGAATAATCAGAAAGAGAGCTCCCTCTGGAAGTCGCAGTCCTGATGAGGCTAATCCACATAGCAGTTCTGTTTTCTCCCCGTTCACTGTCCCTAGAATGCTCCCCA... | pathogenic | 187,736 |
Variant at chromosome 11, position 112094815, gene SDHD (succinate dehydrogenase complex subunit D): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | TGTATACCCAAGAGAACTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAG... | TGTATACCCAAGAGAACTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAG... | pathogenic | 187,763 |
Benign or pathogenic: chromosome 11, position 112094823, gene SDHD (succinate dehydrogenase complex subunit D) variant? Disease(s) if pathogenic? | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_2_deficiency,_nuclear_type_3', 'Paragangliomas_1', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | CAAGAGAACTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGG... | CAAGAGAACTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGG... | pathogenic | 187,765 |
Considering the variant on chromosome 11, location 112094825, involving gene SDHD (succinate dehydrogenase complex subunit D), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Paragangliomas_1', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | AGAGAACTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTG... | AGAGAACTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTG... | pathogenic | 187,766 |
Gene mutation in SDHD (succinate dehydrogenase complex subunit D) at chromosome 11, position 112094829—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | AACTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGAT... | AACTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGAT... | pathogenic | 187,767 |
Assess the variant on chromosome 11, position 112094838, impacting SDHD (succinate dehydrogenase complex subunit D): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | CGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCG... | CGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCG... | pathogenic | 187,772 |
Is chromosome 11, position 112094868, gene SDHD (succinate dehydrogenase complex subunit D) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | GATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCAGCACGATCTCAGCT... | GATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCAGCACGATCTCAGCT... | pathogenic | 187,779 |
Variant in SDHD (succinate dehydrogenase complex subunit D), chromosome 11, position 112094872—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | ATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCAGCACGATCTCAGCTTACT... | ATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCAGCACGATCTCAGCTTACT... | pathogenic | 187,780 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 112094876, gene SDHD (succinate dehydrogenase complex subunit D): what disease(s) if pathogenic? | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | CAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCAGCACGATCTCAGCTTACTGCAA... | CAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCAGCACGATCTCAGCTTACTGCAA... | pathogenic | 187,781 |
For chromosome 11, position 112094881, gene SDHD (succinate dehydrogenase complex subunit D): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Carney-Stratakis_syndrome', 'Cowden_syndrome_3', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_1', 'Paragangliomas_with_sensorineural_hearing_loss', 'Pheochromocytoma'] | TTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCAGCACGATCTCAGCTTACTGCAACCTCC... | TTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCAGCACGATCTCAGCTTACTGCAACCTCC... | pathogenic | 187,782 |
Evaluate this variant at chromosome 11, position 112094934, gene SDHD (succinate dehydrogenase complex subunit D): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCAGCACGATCTCAGCTTACTGCAACCTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATT... | ATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCAGCACGATCTCAGCTTACTGCAACCTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATT... | pathogenic | 187,790 |
Chromosome 11, position 112226417, gene PTS: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency'] | TCAAATTCTTGCTCTTTAAAAATTTTTTTTTAAAGAAACGGTATTAATCCTAAGCAAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCGAACTATACTACAAGCCTACAGTAACAAAAACAGCATGGTATGGGTACCAAAACAGATATATACACCAATGGAACACAACAGAGGCCTCAGAAATAACACCACACATCTACAACCATCTGATCTTAGACAAACCTGATAAAAACAAGAAATGGGGAAAGGATTCCCTATTAAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATC... | TCAAATTCTTGCTCTTTAAAAATTTTTTTTTAAAGAAACGGTATTAATCCTAAGCAAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCGAACTATACTACAAGCCTACAGTAACAAAAACAGCATGGTATGGGTACCAAAACAGATATATACACCAATGGAACACAACAGAGGCCTCAGAAATAACACCACACATCTACAACCATCTGATCTTAGACAAACCTGATAAAAACAAGAAATGGGGAAAGGATTCCCTATTAAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATC... | pathogenic | 187,800 |
The chromosome 11, position 112228625 genetic variant in gene PTS (6-pyruvoyltetrahydropterin synthase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency'] | AACGTCACCGGGGCGGGGCCGGCGGGCGTGCTGACGTCGGGCCCGGGAGGGGCGCGGGGGCTGCTGGGGCGACGCGCGCTGGTCGGCTTCGTGGGGCTTCGGACGGCCTCCAGCATCCTGATGGGGGCTGGAGTGTCCCCAGCCCTGGAGGGGTGGGGGAGCTTGATGGTTAACGGAGCCGACTGCGGAGGGCGATGGCCCACGTCTGGGTGCGGGGCCCACACCCGGTTCTGCGACTCGAAGAAACGTCTCTGCCCCTAGGAGTCCCTTGGTGTAGACCACAGGGTTGCTGTGAAACTCAGCAGTGTTAAACTCGCCTA... | AACGTCACCGGGGCGGGGCCGGCGGGCGTGCTGACGTCGGGCCCGGGAGGGGCGCGGGGGCTGCTGGGGCGACGCGCGCTGGTCGGCTTCGTGGGGCTTCGGACGGCCTCCAGCATCCTGATGGGGGCTGGAGTGTCCCCAGCCCTGGAGGGGTGGGGGAGCTTGATGGTTAACGGAGCCGACTGCGGAGGGCGATGGCCCACGTCTGGGTGCGGGGCCCACACCCGGTTCTGCGACTCGAAGAAACGTCTCTGCCCCTAGGAGTCCCTTGGTGTAGACCACAGGGTTGCTGTGAAACTCAGCAGTGTTAAACTCGCCTA... | pathogenic | 187,812 |
Does the variant impacting PTS (6-pyruvoyltetrahydropterin synthase) on chromosome 11, position 112230209, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency'] | TTCTGGATGAGTAGTTTAGCTTCTGAGAGAAATGAGATAGTAAGCCACTTTGCGGATCACCATCTATGTTTATCATTATATGCTGTTATTTCATTCAGCACTTGCCTGTTACATTGTAGGCACTCAGTAATGTTGAATTGAAAAGTGGAAGGCCCATGAGCAGATCAGTTGCTGTGGAACAAGGGGGTTGAAGTTAAGGTTTGTTTGTGCTAATTTGTATGGTACAATCTTCTAATTAGGGAATATGCCATGGTTTGTGACGTATACGTAAGTAATAAAATCAACATGATTTCTGACTCTCCCTTTGGTGAGCTAAAGTA... | TTCTGGATGAGTAGTTTAGCTTCTGAGAGAAATGAGATAGTAAGCCACTTTGCGGATCACCATCTATGTTTATCATTATATGCTGTTATTTCATTCAGCACTTGCCTGTTACATTGTAGGCACTCAGTAATGTTGAATTGAAAAGTGGAAGGCCCATGAGCAGATCAGTTGCTGTGGAACAAGGGGGTTGAAGTTAAGGTTTGTTTGTGCTAATTTGTATGGTACAATCTTCTAATTAGGGAATATGCCATGGTTTGTGACGTATACGTAAGTAATAAAATCAACATGATTTCTGACTCTCCCTTTGGTGAGCTAAAGTA... | pathogenic | 187,818 |
Assess the variant on chromosome 11, position 112230217, impacting PTS (6-pyruvoyltetrahydropterin synthase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency'] | GAGTAGTTTAGCTTCTGAGAGAAATGAGATAGTAAGCCACTTTGCGGATCACCATCTATGTTTATCATTATATGCTGTTATTTCATTCAGCACTTGCCTGTTACATTGTAGGCACTCAGTAATGTTGAATTGAAAAGTGGAAGGCCCATGAGCAGATCAGTTGCTGTGGAACAAGGGGGTTGAAGTTAAGGTTTGTTTGTGCTAATTTGTATGGTACAATCTTCTAATTAGGGAATATGCCATGGTTTGTGACGTATACGTAAGTAATAAAATCAACATGATTTCTGACTCTCCCTTTGGTGAGCTAAAGTAATAAATTG... | GAGTAGTTTAGCTTCTGAGAGAAATGAGATAGTAAGCCACTTTGCGGATCACCATCTATGTTTATCATTATATGCTGTTATTTCATTCAGCACTTGCCTGTTACATTGTAGGCACTCAGTAATGTTGAATTGAAAAGTGGAAGGCCCATGAGCAGATCAGTTGCTGTGGAACAAGGGGGTTGAAGTTAAGGTTTGTTTGTGCTAATTTGTATGGTACAATCTTCTAATTAGGGAATATGCCATGGTTTGTGACGTATACGTAAGTAATAAAATCAACATGATTTCTGACTCTCCCTTTGGTGAGCTAAAGTAATAAATTG... | pathogenic | 187,820 |
A genetic alteration at chromosome 11, position 112230645, in gene PTS (6-pyruvoyltetrahydropterin synthase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency'] | ATTTCTAAGTGATGAAGAAAACTTGAAACTGTTTGGGAAATGCAACAATCCAAATGGCCATGGGCACAATTATAAAGGTGAGAGAAAAACTGATGACATTTCAGCCCTTCAATAAGGATGAAAGAGTATTCAGCAAATGTAGACATAAAGAATGGGAAAACTTACGGACACAGTGTGAATGCTTTGAGCCTTGAATGAGAAATTAAATGGGAGTTCAGAATGAAAGGATCTGTTGTCTTGGTTGGGTGTGTGTTAAGTTTTACCTTGCAATGTCAACTCTTACAAACAGTCCAAAACAATGAATGGTTTAAAGCATTTTT... | ATTTCTAAGTGATGAAGAAAACTTGAAACTGTTTGGGAAATGCAACAATCCAAATGGCCATGGGCACAATTATAAAGGTGAGAGAAAAACTGATGACATTTCAGCCCTTCAATAAGGATGAAAGAGTATTCAGCAAATGTAGACATAAAGAATGGGAAAACTTACGGACACAGTGTGAATGCTTTGAGCCTTGAATGAGAAATTAAATGGGAGTTCAGAATGAAAGGATCTGTTGTCTTGGTTGGGTGTGTGTTAAGTTTTACCTTGCAATGTCAACTCTTACAAACAGTCCAAAACAATGAATGGTTTAAAGCATTTTT... | pathogenic | 187,827 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 112230681, gene PTS (6-pyruvoyltetrahydropterin synthase): what disease(s) if pathogenic? | pathogenic; ['6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency'] | GAAATGCAACAATCCAAATGGCCATGGGCACAATTATAAAGGTGAGAGAAAAACTGATGACATTTCAGCCCTTCAATAAGGATGAAAGAGTATTCAGCAAATGTAGACATAAAGAATGGGAAAACTTACGGACACAGTGTGAATGCTTTGAGCCTTGAATGAGAAATTAAATGGGAGTTCAGAATGAAAGGATCTGTTGTCTTGGTTGGGTGTGTGTTAAGTTTTACCTTGCAATGTCAACTCTTACAAACAGTCCAAAACAATGAATGGTTTAAAGCATTTTTCTTTGTCCTAGAGTACACAACAAGTTTCTTTCTGAT... | GAAATGCAACAATCCAAATGGCCATGGGCACAATTATAAAGGTGAGAGAAAAACTGATGACATTTCAGCCCTTCAATAAGGATGAAAGAGTATTCAGCAAATGTAGACATAAAGAATGGGAAAACTTACGGACACAGTGTGAATGCTTTGAGCCTTGAATGAGAAATTAAATGGGAGTTCAGAATGAAAGGATCTGTTGTCTTGGTTGGGTGTGTGTTAAGTTTTACCTTGCAATGTCAACTCTTACAAACAGTCCAAAACAATGAATGGTTTAAAGCATTTTTCTTTGTCCTAGAGTACACAACAAGTTTCTTTCTGAT... | pathogenic | 187,830 |
Evaluate this variant at chromosome 11, position 112233506, gene PTS (6-pyruvoyltetrahydropterin synthase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency'] | TGGCTAGTCATTTGCAAAGCTGGGAGTAGATTTCTTTCCTTCCAGCTGTTTTATTATGCTGTCATTTCACTTGCAGCTTAGGTTTGTTCTGAGATTTGACATTTGCTTGATTAAAATGATGTTATTAGTAATGATTACTTCTTTCACATTACTTATTCATATATTCAACAAATTTCTCTACTTCGCATCAGTTTTTGAGCTAAGTGTACAAAGATGAATGAGATGTAGCCCACAGAGTGTATACATTACTTTTTCTAGGAGGTGAAGAATATTATTAAATAACTGTTGATTTAATAAATGAGTAGAAGAATGAGTGAATG... | TGGCTAGTCATTTGCAAAGCTGGGAGTAGATTTCTTTCCTTCCAGCTGTTTTATTATGCTGTCATTTCACTTGCAGCTTAGGTTTGTTCTGAGATTTGACATTTGCTTGATTAAAATGATGTTATTAGTAATGATTACTTCTTTCACATTACTTATTCATATATTCAACAAATTTCTCTACTTCGCATCAGTTTTTGAGCTAAGTGTACAAAGATGAATGAGATGTAGCCCACAGAGTGTATACATTACTTTTTCTAGGAGGTGAAGAATATTATTAAATAACTGTTGATTTAATAAATGAGTAGAAGAATGAGTGAATG... | pathogenic | 187,849 |
Evaluate if the mutation on chromosome 11 at position 113475529 in DRD2 (dopamine receptor D2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AATCAGAACCTCTCCACTTTCTGGGCACCTCAGGCTGTGCAGGGAAGGTAGAAGGAACTCAATGATCTTTAAGAGCTGGGACTACCCTGGCCCTCATTTGGTTCTAGGTCTAACCCTCCCAAACCACTTCCTTGTCAGATGTCTGCATTCAGAGATGGCATCAAAACCCCCTGCAACAAATAATCCAGGAATTTTGAACACTAAGGAGGGAAGTCCAAGGCAGGGACTGAAACCCAGGAAAGCAGCTTGCTGATTTTCTTGAAACTGGTCATGCTGACCACAGTCTCTCTATCTGGCCACCCTCATCAAACAGCTGCATG... | AATCAGAACCTCTCCACTTTCTGGGCACCTCAGGCTGTGCAGGGAAGGTAGAAGGAACTCAATGATCTTTAAGAGCTGGGACTACCCTGGCCCTCATTTGGTTCTAGGTCTAACCCTCCCAAACCACTTCCTTGTCAGATGTCTGCATTCAGAGATGGCATCAAAACCCCCTGCAACAAATAATCCAGGAATTTTGAACACTAAGGAGGGAAGTCCAAGGCAGGGACTGAAACCCAGGAAAGCAGCTTGCTGATTTTCTTGAAACTGGTCATGCTGACCACAGTCTCTCTATCTGGCCACCCTCATCAAACAGCTGCATG... | benign | 187,923 |
For chromosome 11, position 113696918, gene TMPRSS5 (transmembrane serine protease 5): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TAATGGAGCCCTAGTACCTAACAGAATGCCTGTCCTGTAGTAAAGGTCGAAGTGTTGGTGTGTGGAAGGATGTGTGAATGGACAGATGAAGAGACGGGTAGATGAACGGGAAGACCAATGAAAGGAACTCCACAGATTGCTTCCCGTTTGGTACCTGATTCACCACCTGCCCTTAGTTTCCTGAAGCTGCTAACAGGTCACTCAATAGCCAATAATAATTTCACCTCTGGGGCTTTCCAGAAGAAAGATGGAGTTGGTGTCAGAGGCCAAGGAAGAGAGTGGCAGGTAGTGAAGGAAGGAGATCATCAGCCCAGATCTGT... | TAATGGAGCCCTAGTACCTAACAGAATGCCTGTCCTGTAGTAAAGGTCGAAGTGTTGGTGTGTGGAAGGATGTGTGAATGGACAGATGAAGAGACGGGTAGATGAACGGGAAGACCAATGAAAGGAACTCCACAGATTGCTTCCCGTTTGGTACCTGATTCACCACCTGCCCTTAGTTTCCTGAAGCTGCTAACAGGTCACTCAATAGCCAATAATAATTTCACCTCTGGGGCTTTCCAGAAGAAAGATGGAGTTGGTGTCAGAGGCCAAGGAAGAGAGTGGCAGGTAGTGAAGGAAGGAGATCATCAGCCCAGATCTGT... | benign | 187,951 |
Regarding the variant at chromosome 11 and position 115209591, affecting gene CADM1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TGATTGTGAGGGGGAGGAGTTCAGCGAGTGCTAAGAAAGGTCTTAAAAAAAAAAAGCATAAGCTAGTGAGAAGGCCAGCCGCAAATGAAAAGTGTTGTTCCATATAAAAGAGAAATGTGGTTGTTTATATACCACGTGAATAAGGTCTCGACTGCCTTAAAATGTAAACCTGGATAGCTACCTAACTGGCACCTTCTAGAATGAGTGGTAATAAATGCTGGCTCATACCTGGGCAAGTTCTGCGAAGATAAAATAGACTGGTGATATATTTTCTTAAAGGGTTAATATATGTAGGGCAATGGAGAATTACGCAGTATATT... | TGATTGTGAGGGGGAGGAGTTCAGCGAGTGCTAAGAAAGGTCTTAAAAAAAAAAAGCATAAGCTAGTGAGAAGGCCAGCCGCAAATGAAAAGTGTTGTTCCATATAAAAGAGAAATGTGGTTGTTTATATACCACGTGAATAAGGTCTCGACTGCCTTAAAATGTAAACCTGGATAGCTACCTAACTGGCACCTTCTAGAATGAGTGGTAATAAATGCTGGCTCATACCTGGGCAAGTTCTGCGAAGATAAAATAGACTGGTGATATATTTTCTTAAAGGGTTAATATATGTAGGGCAATGGAGAATTACGCAGTATATT... | benign | 187,983 |
Variant in APOA5 (apolipoprotein A5), chromosome 11, position 116790235—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiovascular_phenotype', 'Familial_type_5_hyperlipoproteinemia', 'Hypertriglyceridemia_1'] | CTCAACTCAGCCGTCACTTCCCCTAAGACGTCCTCTTAGAACCAGGGCACTTTTTTGCTCCTTCACAATAGCTCCACCGCACGGGGTTCTATTGGTCCCTACGTCGGTCTACAAGAGCCTTGACGACAAGGGGCTGGACTTGTCCCTGAGGAATCCCTGAGAAGGTGCGCCCGGAGCCGGGCTGCTTGGTTCCAGTGTTGGGCCACATACTGCTTGCGTGCTAGGTCGCCCCTCCGGGTGGCTCAGCCTCTTCCCCTCTCTCACAATCCCTGAATCCCTCTGTCCCTTTCTGTTCTTCCCACTCCCTATTCTGTCCTCAT... | CTCAACTCAGCCGTCACTTCCCCTAAGACGTCCTCTTAGAACCAGGGCACTTTTTTGCTCCTTCACAATAGCTCCACCGCACGGGGTTCTATTGGTCCCTACGTCGGTCTACAAGAGCCTTGACGACAAGGGGCTGGACTTGTCCCTGAGGAATCCCTGAGAAGGTGCGCCCGGAGCCGGGCTGCTTGGTTCCAGTGTTGGGCCACATACTGCTTGCGTGCTAGGTCGCCCCTCCGGGTGGCTCAGCCTCTTCCCCTCTCTCACAATCCCTGAATCCCTCTGTCCCTTTCTGTTCTTCCCACTCCCTATTCTGTCCTCAT... | pathogenic | 187,993 |
Considering the genetic mutation at chromosome 11, position 116790433, impacting APOA5 (apolipoprotein A5): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype'] | TGGGCCACATACTGCTTGCGTGCTAGGTCGCCCCTCCGGGTGGCTCAGCCTCTTCCCCTCTCTCACAATCCCTGAATCCCTCTGTCCCTTTCTGTTCTTCCCACTCCCTATTCTGTCCTCATCACTACCTTCCCCAATCCCAGCCTCAAGTACACAGCCCTCATTTTCACTCCTACCTCCTCATCCCCATCATAGCCCTTGACCTATGCTTTTCCAGTTTCCTAACAACAACAAAAACACCTTTTATTATTTCTACCTTTCTAGCACTTCCTCTCTCCAGGTGCTGGGTCCACAACCCAGTTCTGTTGCCAACATTGTCA... | TGGGCCACATACTGCTTGCGTGCTAGGTCGCCCCTCCGGGTGGCTCAGCCTCTTCCCCTCTCTCACAATCCCTGAATCCCTCTGTCCCTTTCTGTTCTTCCCACTCCCTATTCTGTCCTCATCACTACCTTCCCCAATCCCAGCCTCAAGTACACAGCCCTCATTTTCACTCCTACCTCCTCATCCCCATCATAGCCCTTGACCTATGCTTTTCCAGTTTCCTAACAACAACAAAAACACCTTTTATTATTTCTACCTTTCTAGCACTTCCTCTCTCCAGGTGCTGGGTCCACAACCCAGTTCTGTTGCCAACATTGTCA... | pathogenic | 188,001 |
Does the variant impacting APOA1 (apolipoprotein A1) on chromosome 11, position 116836078, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_visceral_amyloidosis,_Ostertag_type', 'Hypoalphalipoproteinemia,_primary,_2', 'Hypoalphalipoproteinemia,_primary,_2,_intermediate'] | AGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCAGGGGCCTGCATGAGGGGGCAAAAGGCCCTGCAGAGAGAGGGTAGGGAAGGCACTG... | AGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCAGGGGCCTGCATGAGGGGGCAAAAGGCCCTGCAGAGAGAGGGTAGGGAAGGCACTG... | pathogenic | 188,084 |
Is chromosome 11, position 117351969, gene CEP164 (centrosomal protein 164) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Nephronophthisis_15', 'Retinal_dystrophy'] | CACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCGCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCAATTTTTGTATTTTTTAGTAGAGATGGGATTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGACGTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCACCCAGCCTTTTTTTTTTTTGAAACAGGGTCTTGCCCTGT... | CACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCGCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCAATTTTTGTATTTTTTAGTAGAGATGGGATTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGACGTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCACCCAGCCTTTTTTTTTTTTGAAACAGGGTCTTGCCCTGT... | pathogenic | 188,141 |
Mutation found at chromosome 11 position 117363484, gene CEP164 (centrosomal protein 164): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Nephronophthisis_15'] | TTCACCATATTGGCCAGGCTGGTCTCAGACTCCTGACCTCGTGATTCACCCGGCTCTGCCTCCCAAAGTGGTAGGATTACAGGACTGAGCCACCGAGCCCGGCCTCCTATATGGCTTCTGAAAGGAGAGCAGAACCCCACGCAGCATCTGCCAGATGTAAAAGAACTGTTTACTGTGAGACAGCATGAGACTTATGAGAATCAGGAAACCAGCCTGTGATTTCTCACACAGTTGGCACAATGGTAATTTCTGGATGTTGTGTTTCATTAGCAGCCTCTGAGCGGAGGTGGTTTAAATTTGAGCGTGCAGGATTTAGATGT... | TTCACCATATTGGCCAGGCTGGTCTCAGACTCCTGACCTCGTGATTCACCCGGCTCTGCCTCCCAAAGTGGTAGGATTACAGGACTGAGCCACCGAGCCCGGCCTCCTATATGGCTTCTGAAAGGAGAGCAGAACCCCACGCAGCATCTGCCAGATGTAAAAGAACTGTTTACTGTGAGACAGCATGAGACTTATGAGAATCAGGAAACCAGCCTGTGATTTCTCACACAGTTGGCACAATGGTAATTTCTGGATGTTGTGTTTCATTAGCAGCCTCTGAGCGGAGGTGGTTTAAATTTGAGCGTGCAGGATTTAGATGT... | pathogenic | 188,155 |
Is the genetic mutation found on chromosome 11 at position 117373777, within the gene CEP164 (centrosomal protein 164), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Nephronophthisis_15'] | CTCCTGGAATGTTCATTTTCTTTTCTCCTGCTTACATCCTCTCCTGCTTCCTACCTCCCTCTTGTACTTTTTTTTTTTTTTTCTGTTGTTTTGAGACAGGGTCTTGCTCTGTAGCCCAGGTTGGAGTGCAGTGGCGTGACCTTGGCTCACTGCAGCCTTGACCTCCAGGGCTCAAGCAGTCCTCCTACCTCATCATAGTTCAGGGTGCTTTTTGGCAGAGCATTACCTCAGCCTCTTGAGTAGTTGAGACCACAGGCATATGTCACCATGCCCAACTAATTTTGGTATTTTTTGTAGAGATAGGGTTTCACCGTGTTGCC... | CTCCTGGAATGTTCATTTTCTTTTCTCCTGCTTACATCCTCTCCTGCTTCCTACCTCCCTCTTGTACTTTTTTTTTTTTTTTCTGTTGTTTTGAGACAGGGTCTTGCTCTGTAGCCCAGGTTGGAGTGCAGTGGCGTGACCTTGGCTCACTGCAGCCTTGACCTCCAGGGCTCAAGCAGTCCTCCTACCTCATCATAGTTCAGGGTGCTTTTTGGCAGAGCATTACCTCAGCCTCTTGAGTAGTTGAGACCACAGGCATATGTCACCATGCCCAACTAATTTTGGTATTTTTTGTAGAGATAGGGTTTCACCGTGTTGCC... | pathogenic | 188,163 |
Regarding the variant found on chromosome 11 at position 117373846 in gene CEP164 (centrosomal protein 164): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTTTTTTTTTTTTCTGTTGTTTTGAGACAGGGTCTTGCTCTGTAGCCCAGGTTGGAGTGCAGTGGCGTGACCTTGGCTCACTGCAGCCTTGACCTCCAGGGCTCAAGCAGTCCTCCTACCTCATCATAGTTCAGGGTGCTTTTTGGCAGAGCATTACCTCAGCCTCTTGAGTAGTTGAGACCACAGGCATATGTCACCATGCCCAACTAATTTTGGTATTTTTTGTAGAGATAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCTAACTCCTGAGCTCAAGTGATCTGCCCACCTCATCATAGTTCAGGGTATTTTTTTTT... | TTTTTTTTTTTTTCTGTTGTTTTGAGACAGGGTCTTGCTCTGTAGCCCAGGTTGGAGTGCAGTGGCGTGACCTTGGCTCACTGCAGCCTTGACCTCCAGGGCTCAAGCAGTCCTCCTACCTCATCATAGTTCAGGGTGCTTTTTGGCAGAGCATTACCTCAGCCTCTTGAGTAGTTGAGACCACAGGCATATGTCACCATGCCCAACTAATTTTGGTATTTTTTGTAGAGATAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCTAACTCCTGAGCTCAAGTGATCTGCCCACCTCATCATAGTTCAGGGTATTTTTTTTT... | benign | 188,166 |
Variant in CEP164 (centrosomal protein 164), chromosome 11, position 117375771—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Nephronophthisis_15'] | GGATTTCTCTGTGGGTCTGTCTCTCCAGGAACTGGAAATTAGTGAACACATGAAGGAACCACAGCTCTCAGACTCCATAGCTTCTGACCCCAAGTCCTTCCATGGCCTGGTGAGTTTGAGATGAGGGCAGTAGAGTGGTGGTGAAGAGCATAGATTTGTGAGCCTCCAGGGTTAAGTAATTTGCCTAGCATCACGCAGCTTATAAGTGGGAGAATTTCGAACTCATGCTTGAGTCTTGTCTAGCTCCAGTTTCTCAACCCATTAACTAAGGGTAATACTTCCTATTTTATAGGTTTGTTGTGAGAAGAAAGTGAGGCAGA... | GGATTTCTCTGTGGGTCTGTCTCTCCAGGAACTGGAAATTAGTGAACACATGAAGGAACCACAGCTCTCAGACTCCATAGCTTCTGACCCCAAGTCCTTCCATGGCCTGGTGAGTTTGAGATGAGGGCAGTAGAGTGGTGGTGAAGAGCATAGATTTGTGAGCCTCCAGGGTTAAGTAATTTGCCTAGCATCACGCAGCTTATAAGTGGGAGAATTTCGAACTCATGCTTGAGTCTTGTCTAGCTCCAGTTTCTCAACCCATTAACTAAGGGTAATACTTCCTATTTTATAGGTTTGTTGTGAGAAGAAAGTGAGGCAGA... | pathogenic | 188,167 |
Regarding the variant found on chromosome 11 at position 117381770 in gene CEP164 (centrosomal protein 164): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Nephronophthisis_15'] | AGAACAAAGGGTTGACCCCAGGCCGACTACACTACTGTACCTCTGTGGAAAATATTTGAAATGATCATGAATATTTCTCCCCTCCAGGCTGGGTGACAAAGTGAGACCTTGCCTCAAAGAATAGTTCTTCCTTTTTTTTTTTTTTTTTTTTTTTAAACCAACTTGCTAAATGTCACTAGTCACCCAAGCTTTAAAATGAGATTTTTGTTCTGTTTTGTTTTGTTTTTGATGGATGATGTAATTGCTGACTGGGAAGGGGGCATCATTGTCTGCTGATGGGGCCAGGGTGCTTGCGGGGACCCTGAATGTAGCGAAGGAGC... | AGAACAAAGGGTTGACCCCAGGCCGACTACACTACTGTACCTCTGTGGAAAATATTTGAAATGATCATGAATATTTCTCCCCTCCAGGCTGGGTGACAAAGTGAGACCTTGCCTCAAAGAATAGTTCTTCCTTTTTTTTTTTTTTTTTTTTTTTAAACCAACTTGCTAAATGTCACTAGTCACCCAAGCTTTAAAATGAGATTTTTGTTCTGTTTTGTTTTGTTTTTGATGGATGATGTAATTGCTGACTGGGAAGGGGGCATCATTGTCTGCTGATGGGGCCAGGGTGCTTGCGGGGACCCTGAATGTAGCGAAGGAGC... | pathogenic | 188,177 |
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