question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Gene PAH (phenylalanine hydroxylase) variant at chromosome position 102855227 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Phenylketonuria'] | ATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTAC... | ATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTAC... | pathogenic | 201,839 |
Does the variant impacting PAH (phenylalanine hydroxylase) on chromosome 12, position 102855228, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Inborn_genetic_diseases', 'Phenylketonuria'] | TACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACT... | TACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACT... | pathogenic | 201,840 |
Regarding the variant at chromosome 12 and position 102855231, affecting gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Phenylketonuria'] | TTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCT... | TTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCT... | pathogenic | 201,845 |
Does the variant on chromosome 12 at location 102855233 affecting gene PAH (phenylalanine hydroxylase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Phenylketonuria'] | CTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCT... | CTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCT... | pathogenic | 201,847 |
Is the variant located on chromosome 12 at position 102855234, gene PAH (phenylalanine hydroxylase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Phenylketonuria'] | TTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTT... | TTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTT... | pathogenic | 201,848 |
A genetic variant on chromosome 12, position 102855243, affects the gene PAH (phenylalanine hydroxylase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Phenylketonuria'] | TTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTG... | TTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTG... | pathogenic | 201,855 |
Classify the chromosome 12 variant at position 102855257 affecting gene PAH (phenylalanine hydroxylase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Phenylketonuria'] | AGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGG... | AGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGG... | pathogenic | 201,860 |
Located at chromosome 12 position 102855260, the variant affecting gene PAH (phenylalanine hydroxylase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Phenylketonuria'] | GCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACC... | GCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACC... | pathogenic | 201,861 |
Assess the variant on chromosome 12, position 102855282, impacting PAH (phenylalanine hydroxylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Phenylketonuria'] | GCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCC... | GCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCC... | pathogenic | 201,869 |
Regarding the variant at chromosome 12 and position 102855285, affecting gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Phenylketonuria'] | CAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATG... | CAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATG... | pathogenic | 201,871 |
Classify the chromosome 12 variant at position 102855290 affecting gene PAH (phenylalanine hydroxylase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Phenylketonuria'] | CCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATG... | CCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATG... | pathogenic | 201,873 |
The genetic variant at chromosome 12, position 102855294, affecting gene PAH (phenylalanine hydroxylase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Phenylketonuria'] | GCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACT... | GCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACT... | pathogenic | 201,875 |
Evaluate the clinical significance of the mutation at chromosome 12, position 102855296 in gene PAH (phenylalanine hydroxylase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Phenylketonuria'] | ACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTAT... | ACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTAT... | pathogenic | 201,876 |
Is the chromosome 12, position 102855349 variant in PAH (phenylalanine hydroxylase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTTACCTAATTAAGGGGTAAAATATTAGCAA... | CAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTTACCTAATTAAGGGGTAAAATATTAGCAA... | benign | 201,902 |
Variant chromosome 12, position 102866601, gene PAH (phenylalanine hydroxylase): benign or pathogenic? Disease(s)? | pathogenic; ['Phenylketonuria'] | AAGCACAAAAATGTTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGA... | AAGCACAAAAATGTTAAAAATGTGACACTAAACAGACCATGTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGA... | pathogenic | 201,913 |
The mutation in gene PAH (phenylalanine hydroxylase) at chromosome 12, position 102866641—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Phenylketonuria'] | GTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGACATGGTAAAAAGAGCACCGAAAGCTTAAATGAGATGAGAT... | GTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGACATGGTAAAAAGAGCACCGAAAGCTTAAATGAGATGAGAT... | pathogenic | 201,925 |
A genetic variant on chromosome 12, position 102866641, affects the gene PAH (phenylalanine hydroxylase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Phenylketonuria'] | GTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGACATGGTAAAAAGAGCACCGAAAGCTTAAATGAGATGAGAT... | GTAAAGGACACATGTTGACAAAATGAGGGTAGAAACAGAAAGGTAGAGTGTTGCCTTCTTTGACCTCAGTTGGAGATATACACCTCAGTAGAATCAAATTTTTTCTCCTCTCTGTGCTAGTCTGGGAATGACTGTGAAAGTGTACAGTGAGTATCGATTTTGGGGTCACAAATACACTTAAGCAAGTAGGCAAATTCGCAAAATAGAATCTGCAAAAAAAAAAAAACAAGGATGAACTATATCAGACCCTGAAGTAAGAGACTATTTTGAAGAAGAAAGACATGGTAAAAAGAGCACCGAAAGCTTAAATGAGATGAGAT... | pathogenic | 201,928 |
Clinically, how would you classify the variant at chromosome 12, position 102877501, gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Phenylketonuria'] | CTTGGATGGGTCAGAGGTGAACAGACAGCTTTTCTGAGAACCAGTATCTTTGGAGATGCTTTGCTGACAGAGTTGATGGCTAAGAGGCCCCAGACAGAGATCTGTTGAACGGGTACACAGAGCAGAATCCCACCTGGAGCAACCTTGGCGCCCCAGGGCTCCTGGGAGTAGGCTACATGGTATATAGGATGGAATGGGGGTCAAAAGTCCCCACATTTACCTTTACTTTTCGGGGAGAGAGAGTATTTAAGTAATATACACTAGGAGCTTTAAATTTAATTCCTATCCTCAGTTTAAATATAACTTAGTTTAATTTCACA... | CTTGGATGGGTCAGAGGTGAACAGACAGCTTTTCTGAGAACCAGTATCTTTGGAGATGCTTTGCTGACAGAGTTGATGGCTAAGAGGCCCCAGACAGAGATCTGTTGAACGGGTACACAGAGCAGAATCCCACCTGGAGCAACCTTGGCGCCCCAGGGCTCCTGGGAGTAGGCTACATGGTATATAGGATGGAATGGGGGTCAAAAGTCCCCACATTTACCTTTACTTTTCGGGGAGAGAGAGTATTTAAGTAATATACACTAGGAGCTTTAAATTTAATTCCTATCCTCAGTTTAAATATAACTTAGTTTAATTTCACA... | pathogenic | 201,963 |
Regarding the variant found on chromosome 12 at position 102877545 in gene PAH (phenylalanine hydroxylase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Phenylketonuria'] | TATCTTTGGAGATGCTTTGCTGACAGAGTTGATGGCTAAGAGGCCCCAGACAGAGATCTGTTGAACGGGTACACAGAGCAGAATCCCACCTGGAGCAACCTTGGCGCCCCAGGGCTCCTGGGAGTAGGCTACATGGTATATAGGATGGAATGGGGGTCAAAAGTCCCCACATTTACCTTTACTTTTCGGGGAGAGAGAGTATTTAAGTAATATACACTAGGAGCTTTAAATTTAATTCCTATCCTCAGTTTAAATATAACTTAGTTTAATTTCACAACTAATATTCAAGGCAGCCATTGGAAGTTCACGTGAAAATACAT... | TATCTTTGGAGATGCTTTGCTGACAGAGTTGATGGCTAAGAGGCCCCAGACAGAGATCTGTTGAACGGGTACACAGAGCAGAATCCCACCTGGAGCAACCTTGGCGCCCCAGGGCTCCTGGGAGTAGGCTACATGGTATATAGGATGGAATGGGGGTCAAAAGTCCCCACATTTACCTTTACTTTTCGGGGAGAGAGAGTATTTAAGTAATATACACTAGGAGCTTTAAATTTAATTCCTATCCTCAGTTTAAATATAACTTAGTTTAATTTCACAACTAATATTCAAGGCAGCCATTGGAAGTTCACGTGAAAATACAT... | pathogenic | 201,973 |
Evaluate this variant at chromosome 12, position 102894736, gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Phenylketonuria'] | AAAAGGCTACATACTGTATGATTTCAACTATGTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGC... | AAAAGGCTACATACTGTATGATTTCAACTATGTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGC... | pathogenic | 201,981 |
For chromosome 12, position 102894739, gene PAH (phenylalanine hydroxylase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Phenylketonuria'] | AGGCTACATACTGTATGATTTCAACTATGTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAG... | AGGCTACATACTGTATGATTTCAACTATGTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAG... | pathogenic | 201,982 |
Variant in gene PAH (phenylalanine hydroxylase), located at chromosome 12 position 102894739: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Phenylketonuria'] | AGGCTACATACTGTATGATTTCAACTATGTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAG... | AGGCTACATACTGTATGATTTCAACTATGTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAG... | pathogenic | 201,983 |
Variant on chromosome 12, at position 102894745, affecting PAH (phenylalanine hydroxylase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Phenylketonuria'] | CATACTGTATGATTTCAACTATGTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTA... | CATACTGTATGATTTCAACTATGTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTA... | pathogenic | 201,984 |
Mutation found at chromosome 12 position 102894757, gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Phenylketonuria'] | TTTCAACTATGTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACT... | TTTCAACTATGTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACT... | pathogenic | 201,986 |
The chromosome 12, position 102894758 genetic variant in gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Phenylketonuria'] | TTCAACTATGTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTG... | TTCAACTATGTGACATTCTTGAAAAAGCAAAACTATGGAGCTAGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTG... | pathogenic | 201,988 |
The mutation impacting PAH (phenylalanine hydroxylase) on chromosome 12 at position 102894800: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Phenylketonuria'] | AGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTG... | AGCAAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTG... | pathogenic | 201,996 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 102894803, gene PAH (phenylalanine hydroxylase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Phenylketonuria'] | AAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAG... | AAAAAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAG... | pathogenic | 201,997 |
Determine whether the variant at chromosome 12, position 102894806, in gene PAH (phenylalanine hydroxylase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Phenylketonuria'] | AAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTT... | AAGAGCAGTGGTTGCTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTT... | pathogenic | 201,999 |
Variant at chromosome 12, position 102894820, gene PAH (phenylalanine hydroxylase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Phenylketonuria'] | CTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAA... | CTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAA... | pathogenic | 202,001 |
The genetic variant at chromosome 12, position 102894820, affecting gene PAH (phenylalanine hydroxylase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Phenylketonuria'] | CTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAA... | CTGGAAGGAGTCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAA... | pathogenic | 202,002 |
Clinical classification of chromosome 12, position 102894830, gene PAH (phenylalanine hydroxylase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Phenylketonuria'] | TCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTT... | TCTGTAAAGAAGAAGGAATGAATAGCTGGAGCACAGGGCATTTTTTAGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTT... | pathogenic | 202,005 |
Chromosome 12, position 102894876, gene PAH (phenylalanine hydroxylase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Phenylketonuria'] | AGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATC... | AGGGCAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATC... | pathogenic | 202,019 |
The chromosome 12, position 102894880 genetic variant in gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Phenylketonuria'] | CAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAA... | CAATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAA... | pathogenic | 202,022 |
The chromosome 12, position 102894882 genetic variant in gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Phenylketonuria'] | ATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACA... | ATGAAACTATTCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACA... | pathogenic | 202,024 |
Chromosome 12, position 102894892, gene PAH (phenylalanine hydroxylase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Phenylketonuria'] | TCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGG... | TCTGTATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGG... | pathogenic | 202,030 |
Mutation found at chromosome 12 position 102894896, gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Phenylketonuria'] | TATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGA... | TATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGA... | pathogenic | 202,034 |
Gene mutation in PAH (phenylalanine hydroxylase) at chromosome 12, position 102894896—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Phenylketonuria'] | TATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGA... | TATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGA... | pathogenic | 202,035 |
Variant at chromosome position 102894897, chromosome 12, gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Phenylketonuria'] | ATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAG... | ATGACATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAG... | pathogenic | 202,036 |
Regarding the variant at chromosome 12 and position 102894902, affecting gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Phenylketonuria'] | ATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGG... | ATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGG... | pathogenic | 202,037 |
A genetic alteration at chromosome 12, position 102894902, in gene PAH (phenylalanine hydroxylase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Phenylketonuria'] | ATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGG... | ATTGAAATGGTAGATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGG... | pathogenic | 202,039 |
Mutation at chromosome 12, position 102894914, within PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Phenylketonuria'] | GATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGTTCACCTGA... | GATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGTTCACCTGA... | pathogenic | 202,042 |
Variant in gene PAH (phenylalanine hydroxylase), located at chromosome 12 position 102894915: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Phenylketonuria'] | ATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGTTCACCTGAG... | ATACATGACATTACGCATTTGTCAAAACCAATAAAACTGTAAAATACAAAGCATGATCCCGAATATAAACTATGGACTTCAATTAGTGATAATATATCAATATCGGCTCATCAGTTCTAAAAAAAAATACCACACAAATGCAAGATGTTAATAGAAGAAACTGAGGTAGGGATGAAAGACCTGGGAACTCTCTGTACTTTCTGTGCAGTTTTTCTGTAAACCTAATACTGCTCTTTTAAAAAGTCTATTAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGTTCACCTGAG... | pathogenic | 202,043 |
Gene PAH (phenylalanine hydroxylase) variant at chromosome 12, position 102912790—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Phenylketonuria'] | TCAGCTCATGTGTAATCACACCATTTGCCCTCTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGT... | TCAGCTCATGTGTAATCACACCATTTGCCCTCTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGT... | pathogenic | 202,054 |
Does the genetic variant at chromosome 12, position 102912793, impacting gene PAH (phenylalanine hydroxylase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Phenylketonuria'] | GCTCATGTGTAATCACACCATTTGCCCTCTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGG... | GCTCATGTGTAATCACACCATTTGCCCTCTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGG... | pathogenic | 202,056 |
Regarding the variant found on chromosome 12 at position 102912793 in gene PAH (phenylalanine hydroxylase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Phenylketonuria'] | GCTCATGTGTAATCACACCATTTGCCCTCTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGG... | GCTCATGTGTAATCACACCATTTGCCCTCTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGG... | pathogenic | 202,057 |
Assess the variant on chromosome 12, position 102912803, impacting PAH (phenylalanine hydroxylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Phenylketonuria'] | AATCACACCATTTGCCCTCTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGC... | AATCACACCATTTGCCCTCTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGC... | pathogenic | 202,062 |
Does the variant impacting PAH (phenylalanine hydroxylase) on chromosome 12, position 102912821, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Phenylketonuria'] | CTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAA... | CTCCTTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAA... | pathogenic | 202,066 |
The genetic variant at chromosome 12, position 102912825, affecting gene PAH (phenylalanine hydroxylase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Phenylketonuria'] | TTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATG... | TTACCTTCTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATG... | pathogenic | 202,069 |
Gene PAH (phenylalanine hydroxylase) variant at chromosome 12, position 102912832—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Phenylketonuria'] | CTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATGGATTTCC... | CTCAGCCATGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATGGATTTCC... | pathogenic | 202,071 |
Does the variant on chromosome 12 at location 102912840 affecting gene PAH (phenylalanine hydroxylase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Phenylketonuria'] | TGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATGGATTTCCCCATCCTT... | TGGTTCTAAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATGGATTTCCCCATCCTT... | pathogenic | 202,075 |
Chromosome 12, position 102912847, gene PAH (phenylalanine hydroxylase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Phenylketonuria'] | AAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATGGATTTCCCCATCCTTGGTAGGG... | AAGGGGTTGCTTTCAAGCACGTTGGCCCTCTGGACCCACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATGGATTTCCCCATCCTTGGTAGGG... | pathogenic | 202,077 |
Assess the variant on chromosome 12, position 102912883, impacting PAH (phenylalanine hydroxylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Phenylketonuria'] | CACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATGGATTTCCCCATCCTTGGTAGGGGCTTGGCTGTCAGCCCAGCCCTGGCTGGACAGGGAA... | CACGCAGCCTTCCCCTCCCTGGTCTTACCTCACCACCACTACTGCCCTTTGCCCAGAGTCATGACCAGGAGGCATGGGCTTTGGGGGGAAGTTTATATTCTGCTGCCACTCTCCGCCAACCCTGGGAGATCTGGCAGGGGATTTGGTGGGTGATTTGGCTTCAGGCAAGCTTCCTTTCCATTCTCATTCCAGAGGTTACAATCTCTTGGGGGATAGCTCATCACTGTGGGTTGGTGCAGCAGGTCCACGGAAATGGAAGATGGATTTCCCCATCCTTGGTAGGGGCTTGGCTGTCAGCCCAGCCCTGGCTGGACAGGGAA... | pathogenic | 202,079 |
The mutation impacting PAH (phenylalanine hydroxylase) on chromosome 12 at position 102917082: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Phenylketonuria'] | CAGTTTCTGTGGTACCGAATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAG... | CAGTTTCTGTGGTACCGAATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAG... | pathogenic | 202,086 |
Regarding the variant at chromosome 12 and position 102917082, affecting gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Phenylketonuria'] | CAGTTTCTGTGGTACCGAATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAG... | CAGTTTCTGTGGTACCGAATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAG... | pathogenic | 202,087 |
Determine if the mutation at chromosome 12, position 102917082 in gene PAH (phenylalanine hydroxylase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Phenylketonuria'] | CAGTTTCTGTGGTACCGAATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAG... | CAGTTTCTGTGGTACCGAATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAG... | pathogenic | 202,088 |
Evaluate if the mutation on chromosome 12 at position 102917083 in PAH (phenylalanine hydroxylase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Phenylketonuria'] | AGTTTCTGTGGTACCGAATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGA... | AGTTTCTGTGGTACCGAATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGA... | pathogenic | 202,089 |
Gene PAH (phenylalanine hydroxylase) variant at chromosome position 102917087 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Phenylketonuria'] | TCTGTGGTACCGAATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGG... | TCTGTGGTACCGAATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGG... | pathogenic | 202,090 |
Does the genetic variant at chromosome 12, position 102917094, impacting gene PAH (phenylalanine hydroxylase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Phenylketonuria'] | TACCGAATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACT... | TACCGAATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACT... | pathogenic | 202,091 |
For chromosome 12, position 102917100, gene PAH (phenylalanine hydroxylase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Phenylketonuria'] | ATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACTTAGAGC... | ATCTCTGGAGGCCCACCTACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACTTAGAGC... | pathogenic | 202,093 |
Does the variant impacting PAH (phenylalanine hydroxylase) on chromosome 12, position 102917117, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Phenylketonuria'] | TACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACTTAGAGCCAAAGGGAGAAAATAAC... | TACAGGAACCTCCTTTCCAGCCAAGCTGCTTTCTTTCTTGCCTTTTTAGCTCCTCATTAGAGTATTCACCAAATTTCCCTTTCCAAGATCTCACCTTCCTTAAAGGCTCTTTTGGGTCTCAATTCTCTTAGGAAATGTTTGTTCCCCTCAGCCCAGGTGCACAATCACTTCTTTATCTATGCTTTCCACTTGGCATTTGATGCCCACATGGTATTTCATAATAATTGACTCACAGAAATTGATTTGTCCTTAGTGCTCATCTAGTTAAACTCCCTTACATTACAGATGGGGAAAACTTAGAGCCAAAGGGAGAAAATAAC... | pathogenic | 202,094 |
Regarding the variant at chromosome 12 and position 102917584, affecting gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ACCAGACAGTTAGTCAATAGCACTCCTAACAGCCTATATTTCACCATGCTGATCCCCCTTCACTTGCTCCATTTCTCTCCATGCACTTTGTAAATCAGTGTTTCTCAATGAGTGTTCCTTGGATCTTGACTCCAAAATTACAGGTGATTCCTTCTTATAATGCAGTTCCCTGGGCTTTACCTAAACCTGTTGAATCAAGTTGTCTTAGAATCTGCCATTTCAAAACCATCCCAGGTGATTCTTAACCATAGAAAATTTTGGAACCATTGATATATATACAGCCTATTTTTTTAATTATAACTTTTCCCTAAATGTGTCTG... | ACCAGACAGTTAGTCAATAGCACTCCTAACAGCCTATATTTCACCATGCTGATCCCCCTTCACTTGCTCCATTTCTCTCCATGCACTTTGTAAATCAGTGTTTCTCAATGAGTGTTCCTTGGATCTTGACTCCAAAATTACAGGTGATTCCTTCTTATAATGCAGTTCCCTGGGCTTTACCTAAACCTGTTGAATCAAGTTGTCTTAGAATCTGCCATTTCAAAACCATCCCAGGTGATTCTTAACCATAGAAAATTTTGGAACCATTGATATATATACAGCCTATTTTTTTAATTATAACTTTTCCCTAAATGTGTCTG... | benign | 202,106 |
Benign or pathogenic: chromosome 12, position 102917606, gene PAH (phenylalanine hydroxylase) variant? Disease(s) if pathogenic? | benign | CTCCTAACAGCCTATATTTCACCATGCTGATCCCCCTTCACTTGCTCCATTTCTCTCCATGCACTTTGTAAATCAGTGTTTCTCAATGAGTGTTCCTTGGATCTTGACTCCAAAATTACAGGTGATTCCTTCTTATAATGCAGTTCCCTGGGCTTTACCTAAACCTGTTGAATCAAGTTGTCTTAGAATCTGCCATTTCAAAACCATCCCAGGTGATTCTTAACCATAGAAAATTTTGGAACCATTGATATATATACAGCCTATTTTTTTAATTATAACTTTTCCCTAAATGTGTCTGCAAATTCACATTTACTATATAA... | CTCCTAACAGCCTATATTTCACCATGCTGATCCCCCTTCACTTGCTCCATTTCTCTCCATGCACTTTGTAAATCAGTGTTTCTCAATGAGTGTTCCTTGGATCTTGACTCCAAAATTACAGGTGATTCCTTCTTATAATGCAGTTCCCTGGGCTTTACCTAAACCTGTTGAATCAAGTTGTCTTAGAATCTGCCATTTCAAAACCATCCCAGGTGATTCTTAACCATAGAAAATTTTGGAACCATTGATATATATACAGCCTATTTTTTTAATTATAACTTTTCCCTAAATGTGTCTGCAAATTCACATTTACTATATAA... | benign | 202,107 |
Mutation at chromosome 12, position 102958393, within PAH: benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GACGGGGTTCTGGCCAGAGAGCGCCAGGGCCGAAGGCCCAGGAAGGACGCCTGGGCAGGCGCTGTCCAAGCGGTCGAGCGACGGCTGCAAGCGCCTCCCCCTCCCTCTCGGCGCCAGCACGCGGCCCCGCCGGGCTCCGCTCCCAGTCGCCTGCCACCGGGCCGCCGGGCACACGCCTGGGGCGGGATGGTGGCTGCGCCAAGGCCGCCGAGGTGCCCGCGGCGGCGCCGAAGAACCAGGAATCCCCACCAGTGCCCTAAGCGCCATCACTCAACCCCCGCCCCGCATCTTTCTTCTCCGAGGGTCTGGGAGTATCCCAG... | GACGGGGTTCTGGCCAGAGAGCGCCAGGGCCGAAGGCCCAGGAAGGACGCCTGGGCAGGCGCTGTCCAAGCGGTCGAGCGACGGCTGCAAGCGCCTCCCCCTCCCTCTCGGCGCCAGCACGCGGCCCCGCCGGGCTCCGCTCCCAGTCGCCTGCCACCGGGCCGCCGGGCACACGCCTGGGGCGGGATGGTGGCTGCGCCAAGGCCGCCGAGGTGCCCGCGGCGGCGCCGAAGAACCAGGAATCCCCACCAGTGCCCTAAGCGCCATCACTCAACCCCCGCCCCGCATCTTTCTTCTCCGAGGGTCTGGGAGTATCCCAG... | benign | 202,113 |
Mutation at chromosome 12, position 102958393, within PAH: benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GACGGGGTTCTGGCCAGAGAGCGCCAGGGCCGAAGGCCCAGGAAGGACGCCTGGGCAGGCGCTGTCCAAGCGGTCGAGCGACGGCTGCAAGCGCCTCCCCCTCCCTCTCGGCGCCAGCACGCGGCCCCGCCGGGCTCCGCTCCCAGTCGCCTGCCACCGGGCCGCCGGGCACACGCCTGGGGCGGGATGGTGGCTGCGCCAAGGCCGCCGAGGTGCCCGCGGCGGCGCCGAAGAACCAGGAATCCCCACCAGTGCCCTAAGCGCCATCACTCAACCCCCGCCCCGCATCTTTCTTCTCCGAGGGTCTGGGAGTATCCCAG... | GACGGGGTTCTGGCCAGAGAGCGCCAGGGCCGAAGGCCCAGGAAGGACGCCTGGGCAGGCGCTGTCCAAGCGGTCGAGCGACGGCTGCAAGCGCCTCCCCCTCCCTCTCGGCGCCAGCACGCGGCCCCGCCGGGCTCCGCTCCCAGTCGCCTGCCACCGGGCCGCCGGGCACACGCCTGGGGCGGGATGGTGGCTGCGCCAAGGCCGCCGAGGTGCCCGCGGCGGCGCCGAAGAACCAGGAATCCCCACCAGTGCCCTAAGCGCCATCACTCAACCCCCGCCCCGCATCTTTCTTCTCCGAGGGTCTGGGAGTATCCCAG... | benign | 202,114 |
Classify the chromosome 12 variant at position 102958393 affecting gene PAH as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GACGGGGTTCTGGCCAGAGAGCGCCAGGGCCGAAGGCCCAGGAAGGACGCCTGGGCAGGCGCTGTCCAAGCGGTCGAGCGACGGCTGCAAGCGCCTCCCCCTCCCTCTCGGCGCCAGCACGCGGCCCCGCCGGGCTCCGCTCCCAGTCGCCTGCCACCGGGCCGCCGGGCACACGCCTGGGGCGGGATGGTGGCTGCGCCAAGGCCGCCGAGGTGCCCGCGGCGGCGCCGAAGAACCAGGAATCCCCACCAGTGCCCTAAGCGCCATCACTCAACCCCCGCCCCGCATCTTTCTTCTCCGAGGGTCTGGGAGTATCCCAG... | GACGGGGTTCTGGCCAGAGAGCGCCAGGGCCGAAGGCCCAGGAAGGACGCCTGGGCAGGCGCTGTCCAAGCGGTCGAGCGACGGCTGCAAGCGCCTCCCCCTCCCTCTCGGCGCCAGCACGCGGCCCCGCCGGGCTCCGCTCCCAGTCGCCTGCCACCGGGCCGCCGGGCACACGCCTGGGGCGGGATGGTGGCTGCGCCAAGGCCGCCGAGGTGCCCGCGGCGGCGCCGAAGAACCAGGAATCCCCACCAGTGCCCTAAGCGCCATCACTCAACCCCCGCCCCGCATCTTTCTTCTCCGAGGGTCTGGGAGTATCCCAG... | benign | 202,115 |
The genetic variant at chromosome 12, position 102958393, affecting gene PAH: benign or pathogenic? Disease name(s) if pathogenic? | benign | GACGGGGTTCTGGCCAGAGAGCGCCAGGGCCGAAGGCCCAGGAAGGACGCCTGGGCAGGCGCTGTCCAAGCGGTCGAGCGACGGCTGCAAGCGCCTCCCCCTCCCTCTCGGCGCCAGCACGCGGCCCCGCCGGGCTCCGCTCCCAGTCGCCTGCCACCGGGCCGCCGGGCACACGCCTGGGGCGGGATGGTGGCTGCGCCAAGGCCGCCGAGGTGCCCGCGGCGGCGCCGAAGAACCAGGAATCCCCACCAGTGCCCTAAGCGCCATCACTCAACCCCCGCCCCGCATCTTTCTTCTCCGAGGGTCTGGGAGTATCCCAG... | GACGGGGTTCTGGCCAGAGAGCGCCAGGGCCGAAGGCCCAGGAAGGACGCCTGGGCAGGCGCTGTCCAAGCGGTCGAGCGACGGCTGCAAGCGCCTCCCCCTCCCTCTCGGCGCCAGCACGCGGCCCCGCCGGGCTCCGCTCCCAGTCGCCTGCCACCGGGCCGCCGGGCACACGCCTGGGGCGGGATGGTGGCTGCGCCAAGGCCGCCGAGGTGCCCGCGGCGGCGCCGAAGAACCAGGAATCCCCACCAGTGCCCTAAGCGCCATCACTCAACCCCCGCCCCGCATCTTTCTTCTCCGAGGGTCTGGGAGTATCCCAG... | benign | 202,116 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 106358132, gene POLR3B (RNA polymerase III subunit B): what disease(s) if pathogenic? | benign | CAAGCTCTCCAGGTGATTCTGATACACCCTAAAGTCGGAGAATCACCTTGATAATGGAAAGCAAAGAAGACTTTGGCACAGACAACCAACACACTTGAGCCAACCTTGAGATCCTCTGCCATCTATAAATCACTTTCACAGTCCCTTCTAGGCTAGATGCTAAATTGGTTGCAATCTGGTAATGCACAATGATGAGACACAAGTTGTATCTTGTCTCTGTAATAAGTAAATTGTAAGAACTTCAAAGGCAGGGTTGATTCTACTTTTGGTGTTTTTTCCATTCTTCTCGTATTTCAGATATCAGTGCAATACTTAGAAAA... | CAAGCTCTCCAGGTGATTCTGATACACCCTAAAGTCGGAGAATCACCTTGATAATGGAAAGCAAAGAAGACTTTGGCACAGACAACCAACACACTTGAGCCAACCTTGAGATCCTCTGCCATCTATAAATCACTTTCACAGTCCCTTCTAGGCTAGATGCTAAATTGGTTGCAATCTGGTAATGCACAATGATGAGACACAAGTTGTATCTTGTCTCTGTAATAAGTAAATTGTAAGAACTTCAAAGGCAGGGTTGATTCTACTTTTGGTGTTTTTTCCATTCTTCTCGTATTTCAGATATCAGTGCAATACTTAGAAAA... | benign | 202,176 |
Evaluate the clinical significance of the mutation at chromosome 12, position 106427179 in gene POLR3B (RNA polymerase III subunit B): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CACCTCCAATACAATGTTGAATAGGAGTGTTGAGCATGGGCAATCTTTTCTTTTTCCCACATTTTCTAAAGGAAAGCTTTCAGTTTCCTGCCCCTCCCTGTGGTATCTGGCCCCTGCTGTGTATCAGTGCAGGATCTTTGCCCAACCAGGTTTCCTGCTCCTCCCCTAGGGAAAGATGCTTCTCCCTCCTCTTCTCTCTGGCATTGCACCTTTTCCTGGAATCAGAGGATTTGCTGGACCTCTTCCGGGGGTAGACTGTTGTTGCTAGTTACTGTAGGTGCAGAGTTTGTTGGGAGAGCCTGGGGGATTAGGGACAGACA... | CACCTCCAATACAATGTTGAATAGGAGTGTTGAGCATGGGCAATCTTTTCTTTTTCCCACATTTTCTAAAGGAAAGCTTTCAGTTTCCTGCCCCTCCCTGTGGTATCTGGCCCCTGCTGTGTATCAGTGCAGGATCTTTGCCCAACCAGGTTTCCTGCTCCTCCCCTAGGGAAAGATGCTTCTCCCTCCTCTTCTCTCTGGCATTGCACCTTTTCCTGGAATCAGAGGATTTGCTGGACCTCTTCCGGGGGTAGACTGTTGTTGCTAGTTACTGTAGGTGCAGAGTTTGTTGGGAGAGCCTGGGGGATTAGGGACAGACA... | benign | 202,187 |
Regarding the variant found on chromosome 12 at position 106427179 in gene POLR3B (RNA polymerase III subunit B): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CACCTCCAATACAATGTTGAATAGGAGTGTTGAGCATGGGCAATCTTTTCTTTTTCCCACATTTTCTAAAGGAAAGCTTTCAGTTTCCTGCCCCTCCCTGTGGTATCTGGCCCCTGCTGTGTATCAGTGCAGGATCTTTGCCCAACCAGGTTTCCTGCTCCTCCCCTAGGGAAAGATGCTTCTCCCTCCTCTTCTCTCTGGCATTGCACCTTTTCCTGGAATCAGAGGATTTGCTGGACCTCTTCCGGGGGTAGACTGTTGTTGCTAGTTACTGTAGGTGCAGAGTTTGTTGGGAGAGCCTGGGGGATTAGGGACAGACA... | CACCTCCAATACAATGTTGAATAGGAGTGTTGAGCATGGGCAATCTTTTCTTTTTCCCACATTTTCTAAAGGAAAGCTTTCAGTTTCCTGCCCCTCCCTGTGGTATCTGGCCCCTGCTGTGTATCAGTGCAGGATCTTTGCCCAACCAGGTTTCCTGCTCCTCCCCTAGGGAAAGATGCTTCTCCCTCCTCTTCTCTCTGGCATTGCACCTTTTCCTGGAATCAGAGGATTTGCTGGACCTCTTCCGGGGGTAGACTGTTGTTGCTAGTTACTGTAGGTGCAGAGTTTGTTGGGAGAGCCTGGGGGATTAGGGACAGACA... | benign | 202,188 |
Regarding the variant at chromosome 12 and position 106457216, affecting gene POLR3B (RNA polymerase III subunit B): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic | AAAGTTAAAAATACACGGCCACAAACTCTGGCGTGGAGTTTTTCTGCTTTTCTTTCTGTTTTTGACAATACTTTCACAAGTCACCACCTCGTGGTTTGTTAGACATCACCTGATCTGAAGTCTGACTTCTCTATTCATAATCTCGATTTCTCTTTTTCCTTCCTGGCGTACCCACTATGCCTTCCCCTTCCCTCTTTGTAGTTGCTAGGCAGCCATAATAGTACTCCTAGACATGTGTCTTTGGCATTAATGTTGGCCACACTTAATTTATGCCTCTTTTTTTCCTCCAAATGACAACAGCCATGCTTTAAAACTAGATG... | AAAGTTAAAAATACACGGCCACAAACTCTGGCGTGGAGTTTTTCTGCTTTTCTTTCTGTTTTTGACAATACTTTCACAAGTCACCACCTCGTGGTTTGTTAGACATCACCTGATCTGAAGTCTGACTTCTCTATTCATAATCTCGATTTCTCTTTTTCCTTCCTGGCGTACCCACTATGCCTTCCCCTTCCCTCTTTGTAGTTGCTAGGCAGCCATAATAGTACTCCTAGACATGTGTCTTTGGCATTAATGTTGGCCACACTTAATTTATGCCTCTTTTTTTCCTCCAAATGACAACAGCCATGCTTTAAAACTAGATG... | pathogenic | 202,216 |
The mutation impacting ISCU (iron-sulfur cluster assembly enzyme) on chromosome 12 at position 108562641: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCCTCCAGTAAAATGGGGATAGATAACAGGGCTTCCTTCACAGGGTCGTGGCGAGGATTCAATGAGATAACGTTTGCAAGGCAATGGGCAGGCAGTAAGCACTCAAATCCGACAGGAGCTACTGTCACGAAAAGCGGGTTTGCAGCCTTGGCGGCTTTATCGCCGCCGAGGACTAGGGAGGCGGGCCAGGACATGGGGACCCGAGGACCTGAAAGACTGGAAGATGCCCGCTGCCCACCCCCGGGCCCACCTGCTCCTCCAGTCTCTCAATCTCCAGCTGGTTTTTCTCCTCCTCTTCGTCATATTCCCACTCGTACTCC... | TCCTCCAGTAAAATGGGGATAGATAACAGGGCTTCCTTCACAGGGTCGTGGCGAGGATTCAATGAGATAACGTTTGCAAGGCAATGGGCAGGCAGTAAGCACTCAAATCCGACAGGAGCTACTGTCACGAAAAGCGGGTTTGCAGCCTTGGCGGCTTTATCGCCGCCGAGGACTAGGGAGGCGGGCCAGGACATGGGGACCCGAGGACCTGAAAGACTGGAAGATGCCCGCTGCCCACCCCCGGGCCCACCTGCTCCTCCAGTCTCTCAATCTCCAGCTGGTTTTTCTCCTCCTCTTCGTCATATTCCCACTCGTACTCC... | benign | 202,261 |
Variant at chromosome position 108562750, chromosome 12, gene ISCU: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CGACAGGAGCTACTGTCACGAAAAGCGGGTTTGCAGCCTTGGCGGCTTTATCGCCGCCGAGGACTAGGGAGGCGGGCCAGGACATGGGGACCCGAGGACCTGAAAGACTGGAAGATGCCCGCTGCCCACCCCCGGGCCCACCTGCTCCTCCAGTCTCTCAATCTCCAGCTGGTTTTTCTCCTCCTCTTCGTCATATTCCCACTCGTACTCCCCGGGGGAGCTCTCCGCGGAGGAAGCCATGGCGTACTCATCCCCATCGCTCTCGCTCACGCCTTCCTCCTGCTGATCCCACGCTGGCCCCATGGTCTTGTATGTCGCAG... | CGACAGGAGCTACTGTCACGAAAAGCGGGTTTGCAGCCTTGGCGGCTTTATCGCCGCCGAGGACTAGGGAGGCGGGCCAGGACATGGGGACCCGAGGACCTGAAAGACTGGAAGATGCCCGCTGCCCACCCCCGGGCCCACCTGCTCCTCCAGTCTCTCAATCTCCAGCTGGTTTTTCTCCTCCTCTTCGTCATATTCCCACTCGTACTCCCCGGGGGAGCTCTCCGCGGAGGAAGCCATGGCGTACTCATCCCCATCGCTCTCGCTCACGCCTTCCTCCTGCTGATCCCACGCTGGCCCCATGGTCTTGTATGTCGCAG... | benign | 202,269 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 108565435, gene ISCU (iron-sulfur cluster assembly enzyme). What disease(s) is it linked to if pathogenic? | benign | GACGTGAGACTCCCACTCGAGAAACAACTAAAGAATGCCATAAATCAACGTGGCACAAAAGGCCCCTACATTAGATACTATCCTGAGGTCCCTTTTACTTGGAGTCAAAATCCTTAGTCAGATGGGGGGAAAAGGGGACTGGAAGATCGGCGTGCTTACTACTAACCAGTAACCAAACCTCAAGGTTATTAAGGCCTTCTGTGTGCCAGTTCGAATGGATGTTTATTGTGATCTGGCTTCTGCCCTTTCTCCAAGGGCTTCTTCACTCCTCCCCCTCCCGGGGGTGTGTTTTGTTGAGGGTACACCCTGAAGAAACTTGG... | GACGTGAGACTCCCACTCGAGAAACAACTAAAGAATGCCATAAATCAACGTGGCACAAAAGGCCCCTACATTAGATACTATCCTGAGGTCCCTTTTACTTGGAGTCAAAATCCTTAGTCAGATGGGGGGAAAAGGGGACTGGAAGATCGGCGTGCTTACTACTAACCAGTAACCAAACCTCAAGGTTATTAAGGCCTTCTGTGTGCCAGTTCGAATGGATGTTTATTGTGATCTGGCTTCTGCCCTTTCTCCAAGGGCTTCTTCACTCCTCCCCCTCCCGGGGGTGTGTTTTGTTGAGGGTACACCCTGAAGAAACTTGG... | benign | 202,279 |
Determine if the mutation at chromosome 12, position 109102808 in gene UNG (uracil DNA glycosylase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GTGTGAACACCAAGGGGAGGGACAAGAGGTCCCCAAAAGCCTCCTGGTCATGGAACATCTGGAGCTGGATTCTGAAAGATAGAGTATGTCAGCTGTGGAGGAAGATTCTAAGAACGCAATGGCAGAAGCTTGAGAATGAAGACTAGGTGGGTGGGCCCTGGATGGGAAGGACGAGGCGGCCTATGTTTCAACACCTCCCGTGACAGGAACTTCATTTCATTTCATTGTCTCTTGCCACCTACTCCCATGGCCCTTTTGATCTGACCTCATTCTCTTCTGGCTCCACCTGTTAGAGGATATAGGGGAGCAGACACCCTCAT... | GTGTGAACACCAAGGGGAGGGACAAGAGGTCCCCAAAAGCCTCCTGGTCATGGAACATCTGGAGCTGGATTCTGAAAGATAGAGTATGTCAGCTGTGGAGGAAGATTCTAAGAACGCAATGGCAGAAGCTTGAGAATGAAGACTAGGTGGGTGGGCCCTGGATGGGAAGGACGAGGCGGCCTATGTTTCAACACCTCCCGTGACAGGAACTTCATTTCATTTCATTGTCTCTTGCCACCTACTCCCATGGCCCTTTTGATCTGACCTCATTCTCTTCTGGCTCCACCTGTTAGAGGATATAGGGGAGCAGACACCCTCAT... | benign | 202,328 |
Mutation at chromosome 12, position 109521240, within UBE3B (ubiquitin protein ligase E3B): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Oculocerebrofacial_syndrome,_Kaufman_type'] | AGTCAAGGTCACTTGGATATCAGTGATAGAGCTGGGCCTGGAAGCCAGGCATCCCTTTTCTAGCTCAGTATTCCCTGTGTGTGCATGTTGAGATGCAGTGAAGAAGAGGAACGCTGACTCACATTCACCTCCCAAGAGGCATGGATATAATCCTCGCATATCCACGCCAGTTCCCAGAAGGCAGGAAATGTATCACAAGAGGCAGTCCCCTCTAAACGTTTAAACAAAGAGGCTGGTGTGGAGCTGATCAAGCAAGACTGAGATTTGAATCCAGTAAACGCTCCTTGAGCTAGGCCATGTGCCACTTGCTTTCACATGTA... | AGTCAAGGTCACTTGGATATCAGTGATAGAGCTGGGCCTGGAAGCCAGGCATCCCTTTTCTAGCTCAGTATTCCCTGTGTGTGCATGTTGAGATGCAGTGAAGAAGAGGAACGCTGACTCACATTCACCTCCCAAGAGGCATGGATATAATCCTCGCATATCCACGCCAGTTCCCAGAAGGCAGGAAATGTATCACAAGAGGCAGTCCCCTCTAAACGTTTAAACAAAGAGGCTGGTGTGGAGCTGATCAAGCAAGACTGAGATTTGAATCCAGTAAACGCTCCTTGAGCTAGGCCATGTGCCACTTGCTTTCACATGTA... | pathogenic | 202,384 |
Does the variant on chromosome 12 at location 109557119 affecting gene MMAB (metabolism of cobalamin associated B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Methylmalonic_aciduria,_cblB_type'] | GTTGTATTTACTCAAAAAGCTTTCCTTATCCTTTGGAGGCTGTGCTTTCCCATGGCTAGGCATGCAGGGCTGCTGTGTTATTTTATATATATATATATATTCCAGGAAGATTTTGAGATTTTGAGGTGTAGACAGAATTGAGTGATTCGCTGCAAGCTCTTTGAACATACTCCCTGACCGAGCCTTAGTGATTGCGTTTTCAGGGTTTTTTTTTTTTTTTTTTTTTTTTTGTGACGGAGTCTCACTCTATCAGCCAGGCTGGAGTGTCGTGTCACGATCTTGGCTCACTGCAGCCTCTGCCTCGTAGGTTCAAGTGATTC... | GTTGTATTTACTCAAAAAGCTTTCCTTATCCTTTGGAGGCTGTGCTTTCCCATGGCTAGGCATGCAGGGCTGCTGTGTTATTTTATATATATATATATATTCCAGGAAGATTTTGAGATTTTGAGGTGTAGACAGAATTGAGTGATTCGCTGCAAGCTCTTTGAACATACTCCCTGACCGAGCCTTAGTGATTGCGTTTTCAGGGTTTTTTTTTTTTTTTTTTTTTTTTTGTGACGGAGTCTCACTCTATCAGCCAGGCTGGAGTGTCGTGTCACGATCTTGGCTCACTGCAGCCTCTGCCTCGTAGGTTCAAGTGATTC... | pathogenic | 202,424 |
Located at chromosome 12 position 109561006, the variant affecting gene MMAB (metabolism of cobalamin associated B)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTTCATAAACACTAAGGGAATGAAGGAGGGGGTGCGGGAATGCTGCCCCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTC... | GTTCATAAACACTAAGGGAATGAAGGAGGGGGTGCGGGAATGCTGCCCCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTC... | benign | 202,432 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 109561046, gene MMAB (metabolism of cobalamin associated B). What disease(s) is it linked to if pathogenic? | pathogenic; ['Methylmalonic_acidemia', 'Methylmalonic_aciduria,_cblB_type'] | TGCTGCCCCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTT... | TGCTGCCCCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTT... | pathogenic | 202,435 |
Classify the chromosome 12 variant at position 109561046 affecting gene MMAB (metabolism of cobalamin associated B) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Methylmalonic_aciduria,_cblB_type'] | TGCTGCCCCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTT... | TGCTGCCCCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTT... | pathogenic | 202,436 |
Chromosome 12, position 109561051, gene MMAB (metabolism of cobalamin associated B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Methylmalonic_acidemia', 'Methylmalonic_aciduria,_cblB_type'] | CCCCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACA... | CCCCACACTGCTTCCCGGACCGCTGCACCGCTGCTACTTCCCACAGATGAGCCTCGGCTTTCAGAGAGGAACCCCCAGGTTCCACGCGAGTACCTGTTTAAGAACTTGGCCACGTTCGCATCGGTCTCTCCCATCTGGACAAGAGGCACCACACTAGAAAGGGAGGAGACACTGAGTCACGTGACATTATGGGGCTCAACAGGCTCTGACCTGGGCCTAAACCTTGAGCAGCATTTCACATCCTGCCACCGCTCAACCTGAACCTGCACAGGCTCGGCCGGCAGTGGAGATGACAAATCCATCACAGGTGGGTTTAAACA... | pathogenic | 202,438 |
The mutation in gene MMAB (metabolism of cobalamin associated B) at chromosome 12, position 109561833—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Methylmalonic_acidemia', 'Methylmalonic_aciduria,_cblB_type'] | CCAGCCTCAGGGTTCTCATCCCCACCCAAAGCCATGCACCCGGCTAGCGGCCCAGGAGGGTGTGCACCCAGGCCTGTCACAGAGCTCCAGGCTGTCTCTAGTGGGCACCGCATGCTCAGCGAGGAGCTTCCTCACCCGAGGTGCCCCAGGTGTGTGTCCCCACCTCAGGACAATCTGCACCTTGCCACTGCCATGGCTGCGTAACTCTCTGCTGCATGGAGGACCTATCAGCTGCTCCGCCATGCCTGTTTTCGGGGCCTTTGGGTTGTTTCCAGTTTCTTGCTATTATGAGCACTGCTGATGGATGGCTTTGTACAAAT... | CCAGCCTCAGGGTTCTCATCCCCACCCAAAGCCATGCACCCGGCTAGCGGCCCAGGAGGGTGTGCACCCAGGCCTGTCACAGAGCTCCAGGCTGTCTCTAGTGGGCACCGCATGCTCAGCGAGGAGCTTCCTCACCCGAGGTGCCCCAGGTGTGTGTCCCCACCTCAGGACAATCTGCACCTTGCCACTGCCATGGCTGCGTAACTCTCTGCTGCATGGAGGACCTATCAGCTGCTCCGCCATGCCTGTTTTCGGGGCCTTTGGGTTGTTTCCAGTTTCTTGCTATTATGAGCACTGCTGATGGATGGCTTTGTACAAAT... | pathogenic | 202,459 |
The genetic variant at chromosome 12, position 109573424, affecting gene MMAB: benign or pathogenic? Disease name(s) if pathogenic? | benign | GTAGCTGCTGGGGTTACAGGCATGGACCACCATACTCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTCAAATTCCTGGCCTCAGATGATTAGCCCAACAGGGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCGCGCCTGGTATATTATACTTTAAAGTGGCTGCAAAGAATTTGGAAGAACTTTAAAATGGTGTATGCCATGAGTATTTCTTTGCATTTTTCACCTGTCCCCACCCTACCTTTGTCTCCCGTTTTGGTGTAAATCTTGGGGATCCTGGGTGTCTTC... | GTAGCTGCTGGGGTTACAGGCATGGACCACCATACTCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTCAAATTCCTGGCCTCAGATGATTAGCCCAACAGGGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCGCGCCTGGTATATTATACTTTAAAGTGGCTGCAAAGAATTTGGAAGAACTTTAAAATGGTGTATGCCATGAGTATTTCTTTGCATTTTTCACCTGTCCCCACCCTACCTTTGTCTCCCGTTTTGGTGTAAATCTTGGGGATCCTGGGTGTCTTC... | benign | 202,477 |
Variant in gene MVK (mevalonate kinase), located at chromosome 12 position 109574906: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGACTTCATTGGGACTTAGGCAAAGACTA... | TAAACAACTCAAGGACATAGCTCAAAATTAAAATGTGACATTACAAGCCCATTCGAAGGTTAATTTCCTGGATCTGTGAACTAAATTAATCCATTATTAATCCACGGTACTCTAGAGGTTCTGAGGTCTGGGTTGAGGTGCAAGTTTCAAGGAATATGAGGAAAGCCATCTTTAGAAGGTGCTGGTGTATCTGGGACCTGGGGAATAAACTGCTTTGGAGATTGGTCACAATCTGAGTCGAGAGCCCTCCTGGCCCACATGGGATATGCCCTGCCCTGCCCGATGATAGCGGGACTTCATTGGGACTTAGGCAAAGACTA... | benign | 202,493 |
Chromosome 12, position 109576045, gene MVK (mevalonate kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hyperimmunoglobulin_D_with_periodic_fever', 'Mevalonic_aciduria', 'Porokeratosis_3,_disseminated_superficial_actinic_type'] | GCGACCTCAATCTGACAGTCGTGATTTTGAGCTTGACAAGCAAGGGGATTCCCCGCTCTGAGCCTCAGTTTTTCTAAGAAATGGGGATCACGATAGTACTTAGCTCATAGTACACCTGAATCTTAGCGTAAGGTAATCTACGTAAAGCCTTAAGCGGAGGATAATTTTGCGTTATGTATAAAAGTGTAAATTGCACACACCTATAGACCCTGCAAGCTCCTTTCTAGGACTCTGTCCTGCAGAAATACTCATTTAAGTGTGCAAAACGAGGCGTACTGGGTGTTTTCTGCAGCCTTGTTTATAATTGTGACACATTGGAA... | GCGACCTCAATCTGACAGTCGTGATTTTGAGCTTGACAAGCAAGGGGATTCCCCGCTCTGAGCCTCAGTTTTTCTAAGAAATGGGGATCACGATAGTACTTAGCTCATAGTACACCTGAATCTTAGCGTAAGGTAATCTACGTAAAGCCTTAAGCGGAGGATAATTTTGCGTTATGTATAAAAGTGTAAATTGCACACACCTATAGACCCTGCAAGCTCCTTTCTAGGACTCTGTCCTGCAGAAATACTCATTTAAGTGTGCAAAACGAGGCGTACTGGGTGTTTTCTGCAGCCTTGTTTATAATTGTGACACATTGGAA... | pathogenic | 202,498 |
Does the chromosome 12 mutation at position 109579850 within gene MVK (mevalonate kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hyperimmunoglobulin_D_with_periodic_fever', 'Mevalonic_aciduria', 'Porokeratosis_3,_disseminated_superficial_actinic_type'] | TCTGGGGACACCTCAGTTAAAAGCCACTCCTTTGGAGCGTGCATCTGAAAACAACCAGCCAGAGCACATGGAACTTGCTTTCCAAGGTGCACAGGGCCACCCAGCCAGACCAGAAATGTCTCCTGAGAACCAGCTGCAACTTGTGTATGTCAGTAGCTTGGGGTGGAAGCAGCCAGGTATGGGGGAACATGTCTCAGACCACTCCAACTCCCTCAGTGAACCTGGGGCAGGTCACTTCATCCTCTGGGCCTCGGAGCAGAGACATGTTTCCTGACTGAGGGCTGCCATGAGGATCCGACGACACTGGAGGCAGGCATTAG... | TCTGGGGACACCTCAGTTAAAAGCCACTCCTTTGGAGCGTGCATCTGAAAACAACCAGCCAGAGCACATGGAACTTGCTTTCCAAGGTGCACAGGGCCACCCAGCCAGACCAGAAATGTCTCCTGAGAACCAGCTGCAACTTGTGTATGTCAGTAGCTTGGGGTGGAAGCAGCCAGGTATGGGGGAACATGTCTCAGACCACTCCAACTCCCTCAGTGAACCTGGGGCAGGTCACTTCATCCTCTGGGCCTCGGAGCAGAGACATGTTTCCTGACTGAGGGCTGCCATGAGGATCCGACGACACTGGAGGCAGGCATTAG... | pathogenic | 202,503 |
Assess the variant on chromosome 12, position 109579923, impacting MVK (mevalonate kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hyperimmunoglobulin_D_with_periodic_fever'] | CTTGCTTTCCAAGGTGCACAGGGCCACCCAGCCAGACCAGAAATGTCTCCTGAGAACCAGCTGCAACTTGTGTATGTCAGTAGCTTGGGGTGGAAGCAGCCAGGTATGGGGGAACATGTCTCAGACCACTCCAACTCCCTCAGTGAACCTGGGGCAGGTCACTTCATCCTCTGGGCCTCGGAGCAGAGACATGTTTCCTGACTGAGGGCTGCCATGAGGATCCGACGACACTGGAGGCAGGCATTAGGGGTGCGACACAGAGTGCATTATGTAGGGAAGGGCTTGTTAGTTTTGGAGCTCTGGGAGACATACTATCTTCT... | CTTGCTTTCCAAGGTGCACAGGGCCACCCAGCCAGACCAGAAATGTCTCCTGAGAACCAGCTGCAACTTGTGTATGTCAGTAGCTTGGGGTGGAAGCAGCCAGGTATGGGGGAACATGTCTCAGACCACTCCAACTCCCTCAGTGAACCTGGGGCAGGTCACTTCATCCTCTGGGCCTCGGAGCAGAGACATGTTTCCTGACTGAGGGCTGCCATGAGGATCCGACGACACTGGAGGCAGGCATTAGGGGTGCGACACAGAGTGCATTATGTAGGGAAGGGCTTGTTAGTTTTGGAGCTCTGGGAGACATACTATCTTCT... | pathogenic | 202,506 |
Does the variant impacting MVK (mevalonate kinase) on chromosome 12, position 109581434, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hyperimmunoglobulin_D_with_periodic_fever', 'Mevalonic_aciduria', 'Porokeratosis_3,_disseminated_superficial_actinic_type'] | CACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCCATGTTCC... | CACCTTGGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCCATGTTCC... | pathogenic | 202,514 |
Chromosome 12, position 109581440, gene MVK (mevalonate kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hyperimmunoglobulin_D_with_periodic_fever', 'Mevalonic_aciduria'] | GGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCCATGTTCCAATTCC... | GGCCTCCCAAAGTACTGGGGTTACAGGCATAAGCGCCTGCACCCAACCTTAAAACTACTGTTAATTAGCACTTACTACATGCCAGGTGCTGTGCTAAAAAGTTTACACCCCTTATTTAACTTTACGTTCCTGACAACCGTAAGAAGAGGCACTGTTGTTATCCCTGTTTTACCAAGGTGGGAAACAGGTTCAGGGAGGTTAAGTCACACGGCCAGTAAATGGCACAGTTGGGACTCAAACCCAAGTCTGCCTAAAGCCAATGAACAGACTTGGGTGTGGGGTTCAGACCATAAATTCGTGTCCATCCATGTTCCAATTCC... | pathogenic | 202,515 |
Clinical classification of chromosome 12, position 109586053, gene MVK (mevalonate kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hyperimmunoglobulin_D_with_periodic_fever', 'MVK-related_disorder', 'Mevalonic_aciduria', 'Porokeratosis_3,_disseminated_superficial_actinic_type'] | GCTCCAAGTCAGCAGATGTGGTCCTGACCCAGCAGTGAGTAGCACTGTGATCTCCAGGATGCTGTTTGACCCATCCAAGCCTCAGTTTCCGTTTCTGTAAGAAACAGGATAATTATTATACCTTCCCTGTAGGGCACAATTGGGAGGATTATGAACCATTTCTCAATGGTCCATTTGAGAAAGCATTTAGCACAATGTTTGGCACATGCTAATCAATAGTATGTTAACTGATGTTAACTCATTATTAATCATAGTCTCACAGCTACCATGTGAGTTGCCAAGTCCGTAAAAATCCTTATTTGGCAGATGAAGAAAGAGAC... | GCTCCAAGTCAGCAGATGTGGTCCTGACCCAGCAGTGAGTAGCACTGTGATCTCCAGGATGCTGTTTGACCCATCCAAGCCTCAGTTTCCGTTTCTGTAAGAAACAGGATAATTATTATACCTTCCCTGTAGGGCACAATTGGGAGGATTATGAACCATTTCTCAATGGTCCATTTGAGAAAGCATTTAGCACAATGTTTGGCACATGCTAATCAATAGTATGTTAACTGATGTTAACTCATTATTAATCATAGTCTCACAGCTACCATGTGAGTTGCCAAGTCCGTAAAAATCCTTATTTGGCAGATGAAGAAAGAGAC... | pathogenic | 202,524 |
Evaluate the clinical significance of the mutation at chromosome 12, position 109586806 in gene MVK (mevalonate kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACAGCACTCCAGCCTGGGGGACAAGAGCGAAACTCCATCTCAAAAAAACAAAACTAGGCTGACTGCTTACTCCATAACTCTGCCACTGAGCCACATCATTCTCAGAGGTCAGAAAACCACCTTTAGCTTCTGCTGTTTCATGAGGAAGGGAATCTGCAGAAAGGAAACAAAAGCTGAGAGAAAAGAGTGGGGAAGTGGGGTTGATCATTTTGTCTTGTTCCATACTCATGTGT... | GCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACAGCACTCCAGCCTGGGGGACAAGAGCGAAACTCCATCTCAAAAAAACAAAACTAGGCTGACTGCTTACTCCATAACTCTGCCACTGAGCCACATCATTCTCAGAGGTCAGAAAACCACCTTTAGCTTCTGCTGTTTCATGAGGAAGGGAATCTGCAGAAAGGAAACAAAAGCTGAGAGAAAAGAGTGGGGAAGTGGGGTTGATCATTTTGTCTTGTTCCATACTCATGTGT... | benign | 202,536 |
A genetic alteration at chromosome 12, position 109595080, in gene MVK (mevalonate kinase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hyperimmunoglobulin_D_with_periodic_fever', 'Mevalonic_aciduria', 'Porokeratosis_3,_disseminated_superficial_actinic_type'] | GCTCCTGGACAGCTTTGCACTCAAACCAGCGAACTGTTCTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGG... | GCTCCTGGACAGCTTTGCACTCAAACCAGCGAACTGTTCTCCTGTGTCACAACCTGTCATCTGATCCTTGACAGATTTTGGATCAGAATGTGACAGGTGTCTGGAACCTGCCTCGGCAACGTGACACCTGGTGCTCAGGCGCAGAGAGCGGCCCCCAGAAGTCTTCTCTCACATCCAGCCCATCAGGCTGGTGAGAGGCACCCGGGGCTGCCACCAGGCCATCATGCCTGTCTGCTCATTTGTCAAAAATGGTGAGCTTGGCGCAGAGCGAGGTATGAGGCAGGCTGTTGGGGAGGGCCACTCCAACCCTGCCTGACCGG... | pathogenic | 202,559 |
Gene MVK (mevalonate kinase) variant at chromosome position 109596630 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AATGTGTCGGGAATCTGTCCATCTGCCACGTAATATCTGATCATGTGGCAAGATAGGTCATCTTGGCGACTTGTGTCTGAAGTTAATTATTTTAGCAGCTCTAGTGGGAAGGGGCAGAGGAAACCCTGGGAGGGCTGTGATTGGCCCAGCTTGGACCACATGCCCATCCCTGATCAGTCACCAGTGCCAGAGGCTTCTGTGACCAGCCCTAGGATATGTGCTCACTGCTGTGGTGAAGGTATGCTCAGCTCTACCCAAGCTCCGTGAGAAATGCTGCAGGGCAGAAGGATTCTTTTACAAGTGGAGAGGGCCAGGGTGCC... | AATGTGTCGGGAATCTGTCCATCTGCCACGTAATATCTGATCATGTGGCAAGATAGGTCATCTTGGCGACTTGTGTCTGAAGTTAATTATTTTAGCAGCTCTAGTGGGAAGGGGCAGAGGAAACCCTGGGAGGGCTGTGATTGGCCCAGCTTGGACCACATGCCCATCCCTGATCAGTCACCAGTGCCAGAGGCTTCTGTGACCAGCCCTAGGATATGTGCTCACTGCTGTGGTGAAGGTATGCTCAGCTCTACCCAAGCTCCGTGAGAAATGCTGCAGGGCAGAAGGATTCTTTTACAAGTGGAGAGGGCCAGGGTGCC... | benign | 202,574 |
Is the genetic mutation found on chromosome 12 at position 109793911, within the gene TRPV4 (transient receptor potential cation channel subfamily V member 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TAAAGGCACTTAGCTTACAGGCTTGTTGGGAGGCAAGGATGGAAACGTACTTAGTCTGGTGCCTGGCACACAAATAAGAACTCAGTGGCCAGGCGCGTTGGCTCACACCTGTAATCCCACCATTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCATGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAATTAAAAAATAGTGGGGCGTGGTGGCAGGAGCCCGTAATCCCAACTACGTGGGAGGCTGAGGCAGAATTACTTGAACCTGGGAGGTGGAGGTTA... | TAAAGGCACTTAGCTTACAGGCTTGTTGGGAGGCAAGGATGGAAACGTACTTAGTCTGGTGCCTGGCACACAAATAAGAACTCAGTGGCCAGGCGCGTTGGCTCACACCTGTAATCCCACCATTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCATGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAATTAAAAAATAGTGGGGCGTGGTGGCAGGAGCCCGTAATCCCAACTACGTGGGAGGCTGAGGCAGAATTACTTGAACCTGGGAGGTGGAGGTTA... | benign | 202,644 |
Variant in TRPV4 (transient receptor potential cation channel subfamily V member 4), chromosome 12, position 109793912—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AAAGGCACTTAGCTTACAGGCTTGTTGGGAGGCAAGGATGGAAACGTACTTAGTCTGGTGCCTGGCACACAAATAAGAACTCAGTGGCCAGGCGCGTTGGCTCACACCTGTAATCCCACCATTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCATGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAATTAAAAAATAGTGGGGCGTGGTGGCAGGAGCCCGTAATCCCAACTACGTGGGAGGCTGAGGCAGAATTACTTGAACCTGGGAGGTGGAGGTTAC... | AAAGGCACTTAGCTTACAGGCTTGTTGGGAGGCAAGGATGGAAACGTACTTAGTCTGGTGCCTGGCACACAAATAAGAACTCAGTGGCCAGGCGCGTTGGCTCACACCTGTAATCCCACCATTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCATGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAATTAAAAAATAGTGGGGCGTGGTGGCAGGAGCCCGTAATCCCAACTACGTGGGAGGCTGAGGCAGAATTACTTGAACCTGGGAGGTGGAGGTTAC... | benign | 202,645 |
Is the genetic mutation found on chromosome 12 at position 109794405, within the gene TRPV4 (transient receptor potential cation channel subfamily V member 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2C', 'Metatropic_dysplasia', 'Skeletal_dysplasia', 'Skeletal_dysplasia_and_progressive_central_nervous_system_degeneration,_lethal'] | GCTCACCTGAAGCGTAGCCGATCATGAAGAGCAAGTAGACGAGCAGGAATCGGAAAAGGTCCTTGAAGAGAATCTAAAGACCCCAGCGGGATTATGGAGGCAAAGAGGAGACACATGGTTTCTCACTTTCCCCATTCCTCCATCTCCACCCTGGTCCCACCCCAGTGTCCAGACCATGCCTCCTGCCCCCACGGTACCCAGCATCCTCAGGTCTGCAGGTGCATAAGTGTGCATGTGGTGTGTGTGTGACTCCCTCCAGGAACACACGAGTCCAGAGGGTCCTCCCAGCCCGTACCTTCTGGATCATGATGCTATAGGTC... | GCTCACCTGAAGCGTAGCCGATCATGAAGAGCAAGTAGACGAGCAGGAATCGGAAAAGGTCCTTGAAGAGAATCTAAAGACCCCAGCGGGATTATGGAGGCAAAGAGGAGACACATGGTTTCTCACTTTCCCCATTCCTCCATCTCCACCCTGGTCCCACCCCAGTGTCCAGACCATGCCTCCTGCCCCCACGGTACCCAGCATCCTCAGGTCTGCAGGTGCATAAGTGTGCATGTGGTGTGTGTGTGACTCCCTCCAGGAACACACGAGTCCAGAGGGTCCTCCCAGCCCGTACCTTCTGGATCATGATGCTATAGGTC... | pathogenic | 202,669 |
Mutation found at chromosome 12 position 109798594, gene TRPV4 (transient receptor potential cation channel subfamily V member 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CAGGATCTCCAGCACGGAGGCCTCTTCCCCACACGTGTCCAGGGAGGAGAGGTCATAAAGCGAGGAATACACTGGCCCATAGGCCCAGTCCTTGAACTTGCGGGACAGGTGCCGTGTGTCCTCATCCGTCACCTCCCGCCGGATGATGTGCTGAAAGATCTGCACAGGGGGCCAGGAGGGTCAGGGGGCTCACACTGGAAAGACCCCCAGGGCTGGGCCCAGCTCAGCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTA... | CAGGATCTCCAGCACGGAGGCCTCTTCCCCACACGTGTCCAGGGAGGAGAGGTCATAAAGCGAGGAATACACTGGCCCATAGGCCCAGTCCTTGAACTTGCGGGACAGGTGCCGTGTGTCCTCATCCGTCACCTCCCGCCGGATGATGTGCTGAAAGATCTGCACAGGGGGCCAGGAGGGTCAGGGGGCTCACACTGGAAAGACCCCCAGGGCTGGGCCCAGCTCAGCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTA... | benign | 202,682 |
A genetic alteration at chromosome 12, position 110346190, in gene ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CAGATCCTTCCATATCCGGACATGCGTAGTGCCTCATCCTTGCAGCCAGCGGCCTTCATGCTCCACTGTAATTCGTGGGTTAGTGGGTATATGCACTTGTTGTTTTTGATGCTACCACATGGGGATATTTGCCTCGTCTGAACTCTGTGTATTCTCTGCTGCACCTTGTTGCTTCTTTGCAATAAACTTCCTGAACTCAAAGCTAATACTGGGGGGAATCCCAGAAGCTGCTGAGGGCAGGGCCATGCTGCTCAGTGTTCCACCCTAGCTCCTGACAGCATTTCCCTAGAAAACTGCTGCTGGGCCTCTAATGGAGCAAA... | CAGATCCTTCCATATCCGGACATGCGTAGTGCCTCATCCTTGCAGCCAGCGGCCTTCATGCTCCACTGTAATTCGTGGGTTAGTGGGTATATGCACTTGTTGTTTTTGATGCTACCACATGGGGATATTTGCCTCGTCTGAACTCTGTGTATTCTCTGCTGCACCTTGTTGCTTCTTTGCAATAAACTTCCTGAACTCAAAGCTAATACTGGGGGGAATCCCAGAAGCTGCTGAGGGCAGGGCCATGCTGCTCAGTGTTCCACCCTAGCTCCTGACAGCATTTCCCTAGAAAACTGCTGCTGGGCCTCTAATGGAGCAAA... | benign | 202,811 |
Does the chromosome 12 mutation at position 110626429 within gene TCTN1 (tectonic family member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_13', 'Meckel-Gruber_syndrome'] | TTTTTTCTTTGTTTTTTGTAGAGATAGGGGTCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCATGGTGCTTGGCCTGTATCTGTATCTATAGCAAATTGATTGGGATTTGTCAAATCTGGGATTGGTTGAAGACTTAACTCATAACTTCTTTTTTTTTTTTTTTTGGGAGAGAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCCAGGTTCAAGCAATACTCCTGCCTCAGTCTC... | TTTTTTCTTTGTTTTTTGTAGAGATAGGGGTCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCATGGTGCTTGGCCTGTATCTGTATCTATAGCAAATTGATTGGGATTTGTCAAATCTGGGATTGGTTGAAGACTTAACTCATAACTTCTTTTTTTTTTTTTTTTGGGAGAGAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCCAGGTTCAAGCAATACTCCTGCCTCAGTCTC... | pathogenic | 202,830 |
Variant on chromosome 12, at position 110628749, affecting TCTN1 (tectonic family member 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TACTGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGATAATTTTTGTGTGTGCGTGGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAACGGCTCAATCTCGGCTCATCACAAATCCTCTGCCTCTTGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGGGCCACCATGCCTGGCCAGTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCTGC... | TACTGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGATAATTTTTGTGTGTGCGTGGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAACGGCTCAATCTCGGCTCATCACAAATCCTCTGCCTCTTGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGGGCCACCATGCCTGGCCAGTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCTGC... | benign | 202,832 |
Considering the genetic mutation at chromosome 12, position 110628757, impacting TCTN1 (tectonic family member 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGCTGGGATTACAGGTGCCTGCCACCATGCCTGGATAATTTTTGTGTGTGCGTGGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAACGGCTCAATCTCGGCTCATCACAAATCCTCTGCCTCTTGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGGGCCACCATGCCTGGCCAGTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCTGCCTTGGCCT... | AGCTGGGATTACAGGTGCCTGCCACCATGCCTGGATAATTTTTGTGTGTGCGTGGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAACGGCTCAATCTCGGCTCATCACAAATCCTCTGCCTCTTGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGGGCCACCATGCCTGGCCAGTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCTGCCTTGGCCT... | benign | 202,834 |
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