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 |
|---|---|---|---|---|---|
Clinically, how would you classify the variant at chromosome 14, position 28767476, gene FOXG1 (forkhead box G1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | AAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACG... | AAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACG... | benign | 220,022 |
Variant chromosome 14, position 28767485, gene FOXG1 (forkhead box G1): benign or pathogenic? Disease(s)? | benign | CTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGT... | CTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGT... | benign | 220,025 |
Clinically, how would you classify the variant at chromosome 14, position 28767497, gene FOXG1 (forkhead box G1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGT... | CGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGT... | benign | 220,028 |
For chromosome 14, position 28767497, gene FOXG1 (forkhead box G1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGT... | CGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGT... | benign | 220,030 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 28767499, gene FOXG1 (forkhead box G1). What disease(s) is it linked to if pathogenic? | pathogenic; ['FOXG1_disorder', 'Rett_syndrome,_congenital_variant'] | TTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGA... | TTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGA... | pathogenic | 220,031 |
The genetic variant at chromosome 14, position 28767507, affecting gene FOXG1 (forkhead box G1): benign or pathogenic? Disease name(s) if pathogenic? | benign | GCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCT... | GCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCT... | benign | 220,034 |
For chromosome 14, position 28767513, gene FOXG1 (forkhead box G1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Rett_syndrome,_congenital_variant'] | CGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAG... | CGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAG... | pathogenic | 220,035 |
Chromosome 14, position 28767513, gene FOXG1 (forkhead box G1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAG... | CGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAG... | benign | 220,036 |
Does the variant impacting FOXG1 (forkhead box G1) on chromosome 14, position 28767528, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Abnormality_of_the_nervous_system', 'FOXG1-related_disorder', 'FOXG1_disorder', 'Rett_syndrome,_congenital_variant'] | GCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAA... | GCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAA... | pathogenic | 220,039 |
Classify the chromosome 14 variant at position 28767528 affecting gene FOXG1 (forkhead box G1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['FOXG1_disorder', 'Rett_syndrome', 'Rett_syndrome,_congenital_variant'] | GCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAA... | GCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAA... | pathogenic | 220,040 |
A genetic variant at chromosome 14, position 28767538, affecting gene FOXG1 (forkhead box G1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['FOXG1_disorder', 'Rett_syndrome,_congenital_variant'] | TTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGAC... | TTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGAC... | pathogenic | 220,045 |
Is the variant located on chromosome 14 at position 28767557, gene FOXG1 (forkhead box G1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGT... | GTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGT... | benign | 220,049 |
Considering the variant on chromosome 14, location 28767572, involving gene FOXG1 (forkhead box G1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Rett_syndrome', 'Rett_syndrome,_congenital_variant'] | AGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTC... | AGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTC... | pathogenic | 220,050 |
Is the genetic mutation found on chromosome 14 at position 28767677, within the gene FOXG1 (forkhead box G1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Rett_syndrome,_congenital_variant'] | ACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCC... | ACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCC... | pathogenic | 220,063 |
A genetic variant on chromosome 14, position 28767732, affects the gene FOXG1 (forkhead box G1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Abnormal_cerebral_morphology', 'FOXG1-related_disorder', 'FOXG1_disorder', 'Inborn_genetic_diseases', 'Rett_syndrome,_congenital_variant'] | CGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCT... | CGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCT... | pathogenic | 220,072 |
Gene mutation in FOXG1 (forkhead box G1) at chromosome 14, position 28767732—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Rett_syndrome,_congenital_variant'] | CGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCT... | CGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCT... | pathogenic | 220,073 |
Gene FOXG1 (forkhead box G1) variant at chromosome 14, position 28767778—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Rett_syndrome,_congenital_variant'] | AGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCC... | AGCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCC... | pathogenic | 220,082 |
Clinical classification of chromosome 14, position 28767779, gene FOXG1 (forkhead box G1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['FOXG1_disorder', 'Rett_syndrome,_congenital_variant'] | GCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCC... | GCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCC... | pathogenic | 220,083 |
Determine if the mutation at chromosome 14, position 28767779 in gene FOXG1 (forkhead box G1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['FOXG1_disorder', 'Inborn_genetic_diseases', 'Rett_syndrome,_congenital_variant'] | GCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCC... | GCGGCGAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCC... | pathogenic | 220,084 |
Variant at chromosome position 28767784, chromosome 14, gene FOXG1 (forkhead box G1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['FOXG1_disorder', 'Rett_syndrome,_congenital_variant'] | GAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTC... | GAGGAGAAAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTC... | pathogenic | 220,088 |
The genetic variant at chromosome 14, position 28767791, affecting gene FOXG1 (forkhead box G1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['FOXG1_disorder', 'Rett_syndrome,_congenital_variant'] | AAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCC... | AAACGACATCGAGTCACCCCGCGCGTGAGCGACGCTCTGGAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCC... | pathogenic | 220,089 |
Gene mutation in FOXG1 (forkhead box G1) at chromosome 14, position 28767830—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['FOXG1_disorder', 'Rett_syndrome,_congenital_variant'] | GAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCC... | GAGCAGGAGAGAAGGAAAAGGAAGAGACACACGTATATAGCATGTGTTACCTGATTTATTTCGAGATTGTTTGGTACTGTTTTCTCTCTGGGCACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCC... | pathogenic | 220,095 |
Determine whether the variant at chromosome 14, position 28767923, in gene FOXG1 (forkhead box G1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['FOXG1_disorder', 'Rett_syndrome,_congenital_variant'] | ACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGC... | ACCTCTCATTTCGGAAGGCCATCAGAGGCGCCCACTACTGAGCGGCCCCGGCCGCCGCAGCAGCACCCGGAGCCCCAGTCCCGGTTTCCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGC... | pathogenic | 220,119 |
Is chromosome 14, position 28768010, gene FOXG1 (forkhead box G1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome,_congenital_variant'] | CCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATT... | CCCCGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATT... | pathogenic | 220,137 |
Gene FOXG1 (forkhead box G1) variant at chromosome 14, position 28768013—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['FOXG1_disorder', 'Rett_syndrome,_congenital_variant'] | CGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCC... | CGCGGTGCCGGAGCCCGGAGCTCGCCGCCGCCCAGGCCTCAGGAATCGAGTAAGTAACCCCTGTTTGGCCCCGCGCTCCTCTGCCCACTTCCTCCTCCTCATCTCATCGCTCCCAAAGCTCTCCCACACCCTCCTCCCCCGAAGTAAAGGACACCCCCGCACACACGCCAGCGGTGGGCCTTATCTCCCCCCTTATCCAAAGCTGCGCTAGACTATTACCTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCC... | pathogenic | 220,138 |
For chromosome 14, position 28768232, gene FOXG1 (forkhead box G1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Rett_syndrome', 'Rett_syndrome,_congenital_variant'] | CTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGG... | CTACAAAGGGCACAATTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGG... | pathogenic | 220,157 |
Mutation found at chromosome 14 position 28768247, gene FOXG1 (forkhead box G1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['FOXG1_disorder', 'Rett_syndrome,_congenital_variant'] | TTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAA... | TTTTCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAA... | pathogenic | 220,158 |
For chromosome 14, position 28768250, gene FOXG1 (forkhead box G1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Rett_syndrome', 'Rett_syndrome,_congenital_variant'] | TCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGG... | TCCTGCTGGCTCAGAAATGCCAGACACTGGCCTGCAAGGCCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGG... | pathogenic | 220,159 |
Mutation at chromosome 14, position 28768289, within FOXG1 (forkhead box G1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Rett_syndrome,_congenital_variant'] | CCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCG... | CCGACTCGGAAAAGTAGTGCCTCGCCTCTACCTCCTCCATTTCCTGCCCTCTCGCATCCTCTCCCTGCACTCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCG... | pathogenic | 220,162 |
Evaluate if the mutation on chromosome 14 at position 28768359 in FOXG1 (forkhead box G1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome,_congenital_variant'] | TCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGG... | TCCCACTCTTCCCACTACCACCACCACCCCCGCTTTCAAAAATAAAATTGGATACAAACTTTAATCACTAAGGACAAATATTGACGCTTAAACGAAAATGACCCAGTACAATGAGGAGGAAGCCGGAAATGTGAGCTATTGGCCCTAGGAGGGGAATTTCGGTGGAGCGGAGCCGGCGGGGTGGAGGGGGTGGCGGGGGCGCAGGGAAGGGCTGCGGCACCGCGTGCTCCCGCCGGCGTATCCCTACGCGGCTCCGCGCGGCCTCGGGGTCCGAGGCCCGCGGAGAGGGGGAGGCGAGCGCCCGAGGGGGCGGCAGCCGG... | pathogenic | 220,167 |
Benign or pathogenic: chromosome 14, position 28768689, gene FOXG1 (forkhead box G1) variant? Disease(s) if pathogenic? | pathogenic; ['Neurodevelopmental_disorder', 'Rett_syndrome,_congenital_variant'] | GGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGG... | GGGGGTGGGTGGGCCCGGCCCCTCCGATTGGTCGACGGCGAGAGAGACGCTCCCGCACGCCGCCAGCTCTGATTGGCCCAGCGGTAGGAAAGGTTAAACCAAAAATTTTTTTACAGCCCTAGTGTGCGCCTGTAGCTCGGAAAATTAATTGTGGCTATAGCCGCCTCGATCGCTGTCTCCCCAGCCTCGCCGCGGCCGCTCCGGGACGCGCCCGCCCGCCGCCCGGCTCTCCCCCCCTTTGGGCTGCTGCTGCTGCTGCTGTGACTGCTGCTGCGAGAGGAGGAGGAGGAGGAGGAAGCAGCGGGGGGGGGAGCGGGGGG... | pathogenic | 220,190 |
Classify the chromosome 14 variant at position 31066332 affecting gene AP4S1 (adaptor related protein complex 4 subunit sigma 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['APS41-related_disorder', 'Hereditary_spastic_paraplegia_52', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Neurodevelopmental_disorder', 'Spastic_paraplegia'] | TGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTATCACCTCCACCTCCCGGGCTCAAGAGATTCTCCTCCCTTAGCTGGAGTACAGTGGCACCATTTCAGCTCACTGCAACCTCCGCCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGTGTGCACCACCATGCCTAGTTAATTTTTGTATTTTTACTAGAGCCAAGGATTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGTCTGTGTTGGCCTCCCAAAATGCTGGGATTACAGGCAT... | TGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTATCACCTCCACCTCCCGGGCTCAAGAGATTCTCCTCCCTTAGCTGGAGTACAGTGGCACCATTTCAGCTCACTGCAACCTCCGCCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGTGTGCACCACCATGCCTAGTTAATTTTTGTATTTTTACTAGAGCCAAGGATTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGTCTGTGTTGGCCTCCCAAAATGCTGGGATTACAGGCAT... | pathogenic | 220,272 |
Variant chromosome 14, position 31084758, gene AP4S1 (adaptor related protein complex 4 subunit sigma 1): benign or pathogenic? Disease(s)? | benign | CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGACTAGAAGAGCTTTAACACCTGATCAGCCTTAATAGTTGATGTTGCCATGACTTTAGGTAACTGAGCTGAGTTACCTTACATCTAAAACAGGAAGAGAGTCTTACAAGACTAGATATT... | CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGACTAGAAGAGCTTTAACACCTGATCAGCCTTAATAGTTGATGTTGCCATGACTTTAGGTAACTGAGCTGAGTTACCTTACATCTAAAACAGGAAGAGAGTCTTACAAGACTAGATATT... | benign | 220,291 |
Does the variant on chromosome 14 at location 31562045 affecting gene NUBPL (NUBP iron-sulfur cluster assembly factor, mitochondrial) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AAAACCGCCATCGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCTAGACAGGGTGGCGGCTGGGCAGAGGGGCCCCTCACTTCCCAGACGGGGTGGCCGGGCAGAGGTGACTCCACCTCCCGGACGGGGTGGCGGCCGGGCGGGGTCTGCCCCCCACCTCCCTCCGGGACGGGGCGGCTGACCGGATGGGGGCTGCCCCCCACGTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGCTTTTCTCTCTTCTTTCATCTTTCTTCCTTCTACTCTCTTCTTCTTTCTTCTTCCTTCTTCTTTCTTCTCCT... | AAAACCGCCATCGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCTAGACAGGGTGGCGGCTGGGCAGAGGGGCCCCTCACTTCCCAGACGGGGTGGCCGGGCAGAGGTGACTCCACCTCCCGGACGGGGTGGCGGCCGGGCGGGGTCTGCCCCCCACCTCCCTCCGGGACGGGGCGGCTGACCGGATGGGGGCTGCCCCCCACGTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGCTTTTCTCTCTTCTTTCATCTTTCTTCCTTCTACTCTCTTCTTCTTTCTTCTTCCTTCTTCTTTCTTCTCCT... | benign | 220,308 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 31673338, gene NUBPL (NUBP iron-sulfur cluster assembly factor, mitochondrial). What disease(s) is it linked to if pathogenic? | benign | AGGTTGATTTCATATCTTGACTATTGCGAATAGTGCTGCAGTAAACATAGGAGTGCAGATATCTCTTTGACATACTGATATCACATTAAGCAAATATTAGCAGACCAAATTCAGCATTCTATAAAACAACTGCATTATAATTAAATTGGGTTTAATCCAGGAAAGCAAGTTTGTTTCCAAATTAGGAAAAATCTCTTAGTGTAACTCACCGTTTTAGCAGATCAAAGGTGAAAAAGCATGTGATAGTTCAGATTCTTTAATCTGTATTCATATGGTAATTGAAGAAAATGGCCAAAAATATTGCCAACCGTGATAGCGAA... | AGGTTGATTTCATATCTTGACTATTGCGAATAGTGCTGCAGTAAACATAGGAGTGCAGATATCTCTTTGACATACTGATATCACATTAAGCAAATATTAGCAGACCAAATTCAGCATTCTATAAAACAACTGCATTATAATTAAATTGGGTTTAATCCAGGAAAGCAAGTTTGTTTCCAAATTAGGAAAAATCTCTTAGTGTAACTCACCGTTTTAGCAGATCAAAGGTGAAAAAGCATGTGATAGTTCAGATTCTTTAATCTGTATTCATATGGTAATTGAAGAAAATGGCCAAAAATATTGCCAACCGTGATAGCGAA... | benign | 220,314 |
Clinical significance of chromosome 14, position 31673338, gene NUBPL (NUBP iron-sulfur cluster assembly factor, mitochondrial): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGGTTGATTTCATATCTTGACTATTGCGAATAGTGCTGCAGTAAACATAGGAGTGCAGATATCTCTTTGACATACTGATATCACATTAAGCAAATATTAGCAGACCAAATTCAGCATTCTATAAAACAACTGCATTATAATTAAATTGGGTTTAATCCAGGAAAGCAAGTTTGTTTCCAAATTAGGAAAAATCTCTTAGTGTAACTCACCGTTTTAGCAGATCAAAGGTGAAAAAGCATGTGATAGTTCAGATTCTTTAATCTGTATTCATATGGTAATTGAAGAAAATGGCCAAAAATATTGCCAACCGTGATAGCGAA... | AGGTTGATTTCATATCTTGACTATTGCGAATAGTGCTGCAGTAAACATAGGAGTGCAGATATCTCTTTGACATACTGATATCACATTAAGCAAATATTAGCAGACCAAATTCAGCATTCTATAAAACAACTGCATTATAATTAAATTGGGTTTAATCCAGGAAAGCAAGTTTGTTTCCAAATTAGGAAAAATCTCTTAGTGTAACTCACCGTTTTAGCAGATCAAAGGTGAAAAAGCATGTGATAGTTCAGATTCTTTAATCTGTATTCATATGGTAATTGAAGAAAATGGCCAAAAATATTGCCAACCGTGATAGCGAA... | benign | 220,315 |
Variant chromosome 14, position 34713142, gene CFL2 (cofilin 2): benign or pathogenic? Disease(s)? | benign | CTATTTTTAATGTTCACATCTGAAAAATCTTTCAAAAATATGGAAAAAATCTAATTATACTAAAATTACTTCCACACATTCAAAAAAAATTTTTAAGGGATATTTTCTTTCCTGTTTTCTGCTAAAAGCATTCCTCTGAGCTATGGGGTTAAGTTCTGAGCCACGACTGACTGCTTACTAGCATGCCTGTTTTGCATACCAGTAGAATCAAGTCCAGTTTTGCCATTTGTGGATAACTATGACAAGATACAAAAGCATGTGTTTGCCATAAATAGCCCTGGCTAACAGCAAACCGCTCACACTGAGCAGATCAAATTCTC... | CTATTTTTAATGTTCACATCTGAAAAATCTTTCAAAAATATGGAAAAAATCTAATTATACTAAAATTACTTCCACACATTCAAAAAAAATTTTTAAGGGATATTTTCTTTCCTGTTTTCTGCTAAAAGCATTCCTCTGAGCTATGGGGTTAAGTTCTGAGCCACGACTGACTGCTTACTAGCATGCCTGTTTTGCATACCAGTAGAATCAAGTCCAGTTTTGCCATTTGTGGATAACTATGACAAGATACAAAAGCATGTGTTTGCCATAAATAGCCCTGGCTAACAGCAAACCGCTCACACTGAGCAGATCAAATTCTC... | benign | 220,373 |
Mutation at chromosome 14, position 34713461, within CFL2 (cofilin 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['CFL2-related_disorder', 'Nemaline_myopathy_7'] | CTATAAGGAGCACAGTCTGGACCATAGCCAAATCCCACTACTAATGTTTAAGACTGCTATTATCAATTCCTATTCCAATTCAATTTGCAAAATATATTCAGAAATAGTAGGTGAAATGACTGTTCCGAAACATCAGAAGTATCATTAAACTTTTAAAGGACATTTTACAAATTATTTTCATTACGACCAAATAAGCAATAAGAGCTTCCTGCTTCTACTATACAACTACTTAGAAATGTAAATGTGAATAAAAAAATAACTATGCTAATTTATCCAGAGAACAAATCAGATATTGAAAAGTATTTATGCCAAAGTGCAAA... | CTATAAGGAGCACAGTCTGGACCATAGCCAAATCCCACTACTAATGTTTAAGACTGCTATTATCAATTCCTATTCCAATTCAATTTGCAAAATATATTCAGAAATAGTAGGTGAAATGACTGTTCCGAAACATCAGAAGTATCATTAAACTTTTAAAGGACATTTTACAAATTATTTTCATTACGACCAAATAAGCAATAAGAGCTTCCTGCTTCTACTATACAACTACTTAGAAATGTAAATGTGAATAAAAAAATAACTATGCTAATTTATCCAGAGAACAAATCAGATATTGAAAAGTATTTATGCCAAAGTGCAAA... | pathogenic | 220,377 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 35007368, gene SRP54 (signal recognition particle 54). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ciliary_dyskinesia,_primary,_40', 'Neutropenia,_severe_congenital,_8,_autosomal_dominant', 'Shwachman-Diamond_syndrome_1'] | GAGTAAGACCCTGTCTCAAAAAAACAAAAAAAGTGGTAAATGAATGGGCATGACTGTATTAGATTGAAATTTTTTTCAATGTAATAACTAGAAATGTAATAACTTTACAGCCTGTTGCCCAGGCCGGAGTACAGTGGCCTGATGATAGCTCATTGCAGTCTCAAACTCCTGGGCTCAAGCAATCTTACTGCCTCAGCCTCCTTGATTAGCTGGGACCACAGGTGCGTGCCACCACACCTGGCCAATTCTTTAAATTAGTAGAGACAAGATCTTGCTATGCTGCCCAAGCTGGTCTCAAACTCCTGGTCTCAATGAATCCT... | GAGTAAGACCCTGTCTCAAAAAAACAAAAAAAGTGGTAAATGAATGGGCATGACTGTATTAGATTGAAATTTTTTTCAATGTAATAACTAGAAATGTAATAACTTTACAGCCTGTTGCCCAGGCCGGAGTACAGTGGCCTGATGATAGCTCATTGCAGTCTCAAACTCCTGGGCTCAAGCAATCTTACTGCCTCAGCCTCCTTGATTAGCTGGGACCACAGGTGCGTGCCACCACACCTGGCCAATTCTTTAAATTAGTAGAGACAAGATCTTGCTATGCTGCCCAAGCTGGTCTCAAACTCCTGGTCTCAATGAATCCT... | pathogenic | 220,395 |
Chromosome 14, position 35023095, gene SRP54 (signal recognition particle 54): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCTTTTATAAGGAAGATGTGGCTTAAAAGCTGCATTTATGAAATGGATTTGGAGGTTTTGATCGTGACTTTATTTTGAGATATTGTATCTTTGTTAGTATTGCATTGATAATTAGACTTCACCTGGATTTCAGTTCACTTCTGGACAATATACTTAGAGGGTATGTATAGACAAATTAAAAGATGTAGGAAATCAGGATGATAAATGGGGTTCTAAACCATGTTAGAAGAGTCAGAGGTGGATATTTGTCATCCAGCGAAAATTCACAGGAGACATGGTAGCTCTTATGCATTTGAAAGCTGGCCAGGTGCGGTGGCTCT... | TCTTTTATAAGGAAGATGTGGCTTAAAAGCTGCATTTATGAAATGGATTTGGAGGTTTTGATCGTGACTTTATTTTGAGATATTGTATCTTTGTTAGTATTGCATTGATAATTAGACTTCACCTGGATTTCAGTTCACTTCTGGACAATATACTTAGAGGGTATGTATAGACAAATTAAAAGATGTAGGAAATCAGGATGATAAATGGGGTTCTAAACCATGTTAGAAGAGTCAGAGGTGGATATTTGTCATCCAGCGAAAATTCACAGGAGACATGGTAGCTCTTATGCATTTGAAAGCTGGCCAGGTGCGGTGGCTCT... | benign | 220,405 |
Gene NFKBIA (NFKB inhibitor alpha) variant at chromosome position 35401929 on chromosome 14: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAAGAATTGGGGCAGAATTGGCTTTAACCAGTCTGTAGTAACACTCCTTATATGTGGAAGACCACTAAATACTGGCTCCTTTTTGGTCCAAGGTGACCATATTCTTTTGACTTTGACATCGTTTGTGGATCAGGAAAGGGATAATGTAATAATTTTTTCTTAGGTATAAGTCAAAGACATGAATTGCATTTATACACTACTCTGCATTTTCTAGAATG... | GTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAAGAATTGGGGCAGAATTGGCTTTAACCAGTCTGTAGTAACACTCCTTATATGTGGAAGACCACTAAATACTGGCTCCTTTTTGGTCCAAGGTGACCATATTCTTTTGACTTTGACATCGTTTGTGGATCAGGAAAGGGATAATGTAATAATTTTTTCTTAGGTATAAGTCAAAGACATGAATTGCATTTATACACTACTCTGCATTTTCTAGAATG... | benign | 220,415 |
Is the chromosome 14, position 36516985 variant in NKX2-1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CAAGCACTCTCACTAGACCCAACCATCCTCTTGGGAATCTTCGAGTCCCTCTGGCTGTTGGAAACTGTGTCTCAGCAGTGAGGCCCAGGTTTCTGAGGGAGAAAGCCCGGCCTAGCCCACAGTCTTAAGGCACCACGCCAGAGGAGGCTCCAGGAAGTTAACAAAGAGGACTGCTGGGCCCGGAGCGAGGACTCCGGCCAGTCTGCTTTCCTCACAAGCTCTTGGTGGGGGAGCGGGAGAGAGGGATTGGGAAGAGATGCAGACGAATAACGAAATGAGAGAGGGGAAGAGAGGAAGAAAAAGAAAGTTGAAAACCTGGG... | CAAGCACTCTCACTAGACCCAACCATCCTCTTGGGAATCTTCGAGTCCCTCTGGCTGTTGGAAACTGTGTCTCAGCAGTGAGGCCCAGGTTTCTGAGGGAGAAAGCCCGGCCTAGCCCACAGTCTTAAGGCACCACGCCAGAGGAGGCTCCAGGAAGTTAACAAAGAGGACTGCTGGGCCCGGAGCGAGGACTCCGGCCAGTCTGCTTTCCTCACAAGCTCTTGGTGGGGGAGCGGGAGAGAGGGATTGGGAAGAGATGCAGACGAATAACGAAATGAGAGAGGGGAAGAGAGGAAGAAAAAGAAAGTTGAAAACCTGGG... | benign | 220,446 |
The chromosome 14, position 36517837 genetic variant in gene NKX2-1: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Benign_hereditary_chorea', 'Inborn_genetic_diseases', 'Neurodevelopmental_disorder'] | GCTGCTGGTCCCCTAGAGGGGTCCCTGTTTTAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGTGAGACCACAGTAGACAGTTCTGAGACTCCTATCAACAGAAGTCTGACTCAGAAAATGAATTATTTGGTCTCTTTCTCTTC... | GCTGCTGGTCCCCTAGAGGGGTCCCTGTTTTAGGACAGAAACAAAACCCCTGAATGACTTCCTTACTTTCGAAAACAGCCTCCCATCGAATTCTGTGAAGGAGCTCAGCCACTGATTAGAAATAAAGGTTTGATGTTCAAATCTACAGAGGTGATCCATTCACTGAAAACCATAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGTGAGACCACAGTAGACAGTTCTGAGACTCCTATCAACAGAAGTCTGACTCAGAAAATGAATTATTTGGTCTCTTTCTCTTC... | pathogenic | 220,459 |
Gene NKX2-1 variant at chromosome position 36518009 on chromosome 14: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Brain-lung-thyroid_syndrome'] | TAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGTGAGACCACAGTAGACAGTTCTGAGACTCCTATCAACAGAAGTCTGACTCAGAAAATGAATTATTTGGTCTCTTTCTCTTCCTCTCTCCCTCTCCCTCTTGGTGGAAGTAGTTTGGTATTTCGGTCCTCCACTGCAGTCTCAGGACTGCTCAAGATTTGTTTCCACACAATTTCTGAGGCAGAACAAAACTCCCTCTTCCTGTGGGGCAAGGACTCTGGGCCTGGCCTCCTTACCTCCTTAACCGGTTCAGAA... | TAACTCACTCAGACTGATTTAAAATGGGTGTCCTCTCTCACTGTTTTAAAACTTTGGCTCAGCTTTGTGAGACCACAGTAGACAGTTCTGAGACTCCTATCAACAGAAGTCTGACTCAGAAAATGAATTATTTGGTCTCTTTCTCTTCCTCTCTCCCTCTCCCTCTTGGTGGAAGTAGTTTGGTATTTCGGTCCTCCACTGCAGTCTCAGGACTGCTCAAGATTTGTTTCCACACAATTTCTGAGGCAGAACAAAACTCCCTCTTCCTGTGGGGCAAGGACTCTGGGCCTGGCCTCCTTACCTCCTTAACCGGTTCAGAA... | pathogenic | 220,467 |
Gene NKX2-1 variant at chromosome 14, position 36519103—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Brain-lung-thyroid_syndrome'] | ATTTTCTTTTTTTAAAAAAAAAAACCCACAAATTTTAGGGGGGGAAAAAAAGAAAGACGTCCAGCAGTTTGGCCTTTGTGGTTTTTTTGTTCCTTGGTCTAAACGCGGCCAGGTTGTTAAGAAAAGTCGAAGCGCGTGGAGCAGCGGTGGATGGTGGTCTGTGTGGCGGGCAGGAGGGAAGCGGTGAGGCAGAGCGCTGGGCTAGGGCCGGCCCGGCGTCCTCTCACCAGGTCCGACCGTATAGCAAGGTGGAGCAGGACATGGTGCCGTAGTCCGAGCCCGAGGAGTTCAGGTGGGACAGGCTGGATACCTGGCCCTGC... | ATTTTCTTTTTTTAAAAAAAAAAACCCACAAATTTTAGGGGGGGAAAAAAAGAAAGACGTCCAGCAGTTTGGCCTTTGTGGTTTTTTTGTTCCTTGGTCTAAACGCGGCCAGGTTGTTAAGAAAAGTCGAAGCGCGTGGAGCAGCGGTGGATGGTGGTCTGTGTGGCGGGCAGGAGGGAAGCGGTGAGGCAGAGCGCTGGGCTAGGGCCGGCCCGGCGTCCTCTCACCAGGTCCGACCGTATAGCAAGGTGGAGCAGGACATGGTGCCGTAGTCCGAGCCCGAGGAGTTCAGGTGGGACAGGCTGGATACCTGGCCCTGC... | pathogenic | 220,471 |
Assess the variant on chromosome 14, position 36519180, impacting NKX2-1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Brain-lung-thyroid_syndrome'] | GTGGTTTTTTTGTTCCTTGGTCTAAACGCGGCCAGGTTGTTAAGAAAAGTCGAAGCGCGTGGAGCAGCGGTGGATGGTGGTCTGTGTGGCGGGCAGGAGGGAAGCGGTGAGGCAGAGCGCTGGGCTAGGGCCGGCCCGGCGTCCTCTCACCAGGTCCGACCGTATAGCAAGGTGGAGCAGGACATGGTGCCGTAGTCCGAGCCCGAGGAGTTCAGGTGGGACAGGCTGGATACCTGGCCCTGCAGCGCCGCGGGGCTGGCGGCGTGGTGCGCCAGGTCCGGAGACTGGCCTGCGCTGCCTGGCTGGTGGCCCGGGTGTGC... | GTGGTTTTTTTGTTCCTTGGTCTAAACGCGGCCAGGTTGTTAAGAAAAGTCGAAGCGCGTGGAGCAGCGGTGGATGGTGGTCTGTGTGGCGGGCAGGAGGGAAGCGGTGAGGCAGAGCGCTGGGCTAGGGCCGGCCCGGCGTCCTCTCACCAGGTCCGACCGTATAGCAAGGTGGAGCAGGACATGGTGCCGTAGTCCGAGCCCGAGGAGTTCAGGTGGGACAGGCTGGATACCTGGCCCTGCAGCGCCGCGGGGCTGGCGGCGTGGTGCGCCAGGTCCGGAGACTGGCCTGCGCTGCCTGGCTGGTGGCCCGGGTGTGC... | pathogenic | 220,472 |
A mutation at chromosome position 36666473 on chromosome 14 in gene PAX9 (paired box 9): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hypodontia', 'Tooth_agenesis,_selective,_3'] | GTGCCACCCCACTGTTTCTTTCCTTTCTCACCCCTGACCTTGCCTAGTCCTAAGCGTCCTTTCTGCCTTGTCAGAAGGATTCCCCGAGCCCTCCTGCCCAGTCCGGCTTCCGCAGGAGACCTGAGTTTGTTTTCTTTTACTGAGTTTTTTTTTTTTTTTTTAAGGCGTTAACTTTTTTCTTGGTAGGGAGAAAAGAAAGTCTGAATGACCTAGATGCAGAATTTAAATAATGTGTAGATAGTCCACTTTCTTAATTTCTCAGCCTAAAGTTTTAAAAGTGTAGAGGAAAAATTAAATAGGAAAGGGGGAAATAGTTTCTT... | GTGCCACCCCACTGTTTCTTTCCTTTCTCACCCCTGACCTTGCCTAGTCCTAAGCGTCCTTTCTGCCTTGTCAGAAGGATTCCCCGAGCCCTCCTGCCCAGTCCGGCTTCCGCAGGAGACCTGAGTTTGTTTTCTTTTACTGAGTTTTTTTTTTTTTTTTTAAGGCGTTAACTTTTTTCTTGGTAGGGAGAAAAGAAAGTCTGAATGACCTAGATGCAGAATTTAAATAATGTGTAGATAGTCCACTTTCTTAATTTCTCAGCCTAAAGTTTTAAAAGTGTAGAGGAAAAATTAAATAGGAAAGGGGGAAATAGTTTCTT... | pathogenic | 220,494 |
The chromosome 14, position 45140616 genetic variant in gene FANCM (FA complementation group M): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GATCAGCTTGGGCAACATAGTGAGACCCTGTGTCTACAAAAATGAAATGAAATAATAAAACACTTAAAAATTTTTTAAAATTCAAACTGTATGGAATACGTTTTGAAGATTTAGCTGGTAATTATTTTATTTTCAAAACATTTCTAGGCATTAGATTTTTTTTTAACAGCAAGGCTTTATGAATATAATGAAACATGCATTGACTTCATTAATAACCAGACAGCCCTGACAGCTTACACCGCATTGAATATTCCAGATATACATTCCAATAGGTACACCTGCTCCATGAGGCACACACCACCATTTCCTCTTCTACAAGA... | GATCAGCTTGGGCAACATAGTGAGACCCTGTGTCTACAAAAATGAAATGAAATAATAAAACACTTAAAAATTTTTTAAAATTCAAACTGTATGGAATACGTTTTGAAGATTTAGCTGGTAATTATTTTATTTTCAAAACATTTCTAGGCATTAGATTTTTTTTTAACAGCAAGGCTTTATGAATATAATGAAACATGCATTGACTTCATTAATAACCAGACAGCCCTGACAGCTTACACCGCATTGAATATTCCAGATATACATTCCAATAGGTACACCTGCTCCATGAGGCACACACCACCATTTCCTCTTCTACAAGA... | benign | 220,592 |
Determine if the mutation at chromosome 14, position 45148940 in gene FANCM (FA complementation group M) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Premature_ovarian_failure_15', 'Spermatogenic_failure_28'] | CTATCTTGTCAGTGTTCCTTATTTTGTTATTTTCTTCTTAACATTTGTGATAATTGGTCATTCTTTTGCGTATTGATTATTTTGGTCTTTCAGCGCCAGTAAAATATCAGCTACATGAATGTAGGGATTATGCCGATTTTGGTCGTTTCTCTGTCATTAACTCAATACCTGGCATGTGGGAGTTACTCATGTATTTCTTTCATGAATGAACTATTAAAAGCAATAAGCTTAATTTTATAAAATGGTCACAAATGTATTCTAGATTTTGAATACGTATAGGCCGCCAGTGATTATGGTGTGCCGTATTGGGCACTGCGCCA... | CTATCTTGTCAGTGTTCCTTATTTTGTTATTTTCTTCTTAACATTTGTGATAATTGGTCATTCTTTTGCGTATTGATTATTTTGGTCTTTCAGCGCCAGTAAAATATCAGCTACATGAATGTAGGGATTATGCCGATTTTGGTCGTTTCTCTGTCATTAACTCAATACCTGGCATGTGGGAGTTACTCATGTATTTCTTTCATGAATGAACTATTAAAAGCAATAAGCTTAATTTTATAAAATGGTCACAAATGTATTCTAGATTTTGAATACGTATAGGCCGCCAGTGATTATGGTGTGCCGTATTGGGCACTGCGCCA... | pathogenic | 220,596 |
Evaluate the clinical significance of the mutation at chromosome 14, position 45154746 in gene FANCM (FA complementation group M): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Fanconi_anemia'] | GAAACTGGATATGATAATATAGGTTGTACTACATGAGAGTAGCTTTAAGTATTATACCACGAAACCGGATATGATAATATAGGTTGTGACTACATGAGAGTAACTTTAACTATTATACCACGAAATGTGGTCTTTATCATATAGTATCTGGGGAAGCACTAAAGGAGTCTTTTCTGCAAAATTATAGTATATTATTATTTAAAACTTTAAAAAGATGTTTTGATTTCTGCTAGGAAATAGTAAATCTAAACCTGTTGAACTAGATCTTAACTGGAACTGGTGAGAGGTAATTAGGGTACCATTTTAGGGCATTTGTTAGT... | GAAACTGGATATGATAATATAGGTTGTACTACATGAGAGTAGCTTTAAGTATTATACCACGAAACCGGATATGATAATATAGGTTGTGACTACATGAGAGTAACTTTAACTATTATACCACGAAATGTGGTCTTTATCATATAGTATCTGGGGAAGCACTAAAGGAGTCTTTTCTGCAAAATTATAGTATATTATTATTTAAAACTTTAAAAAGATGTTTTGATTTCTGCTAGGAAATAGTAAATCTAAACCTGTTGAACTAGATCTTAACTGGAACTGGTGAGAGGTAATTAGGGTACCATTTTAGGGCATTTGTTAGT... | pathogenic | 220,615 |
For chromosome 14, position 45155426, gene FANCM (FA complementation group M): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Fanconi_anemia'] | TGGGGCTCAGTGTCAGATATTTTCACAGGACGTATACTTGGTATTAAAGGTTGGCATTAAAACAGTCTGATTAAATATTTGTACTTTTGCCAGTAACATTCATGAGGATAGGCCATATCTAACTTATTTCCCATTTCCATTGTATCTAGCTCAGTGCTTGACAGGTAGTAGATGCTTACTATATAGTTTTGAAAGAACAAATATATCTATATACTGCCAATTAATTTACCTGTAAAGAAAAACAATATAATTTTTTTTTCCTTTACTTATTATTTTTAAAATGTAAGTTTCCTGTTTAATTAAAGAAAAAGAAATAAAGG... | TGGGGCTCAGTGTCAGATATTTTCACAGGACGTATACTTGGTATTAAAGGTTGGCATTAAAACAGTCTGATTAAATATTTGTACTTTTGCCAGTAACATTCATGAGGATAGGCCATATCTAACTTATTTCCCATTTCCATTGTATCTAGCTCAGTGCTTGACAGGTAGTAGATGCTTACTATATAGTTTTGAAAGAACAAATATATCTATATACTGCCAATTAATTTACCTGTAAAGAAAAACAATATAATTTTTTTTTCCTTTACTTATTATTTTTAAAATGTAAGTTTCCTGTTTAATTAAAGAAAAAGAAATAAAGG... | pathogenic | 220,619 |
Determine if the mutation at chromosome 14, position 45159080 in gene FANCM (FA complementation group M) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AAGTATGTGAGGTAATATGTATGTTAATTAGCTTGATTTAGCCATTTCACAATGTATATAGACATCTCAAAACATATTGTACAACATAAATATATACAACTTTTATTTGTCAATTAAAAAAAAGAATAACAAAAGAAAGAGCAAACATGTTAAGATGTTTTTGAGACACCTAAGTGTCAAGTAGGCATTAGATAACCAAATCTGGATCTCAGAAGAATGATTGCTGCTGTTTTTACATATTTACATATATGTGAATACATTTTGGAGTTATCAGCATAAAGGTAATATTTAAAGTTTCAGGAATAGATGTGATTATCAGG... | AAGTATGTGAGGTAATATGTATGTTAATTAGCTTGATTTAGCCATTTCACAATGTATATAGACATCTCAAAACATATTGTACAACATAAATATATACAACTTTTATTTGTCAATTAAAAAAAAGAATAACAAAAGAAAGAGCAAACATGTTAAGATGTTTTTGAGACACCTAAGTGTCAAGTAGGCATTAGATAACCAAATCTGGATCTCAGAAGAATGATTGCTGCTGTTTTTACATATTTACATATATGTGAATACATTTTGGAGTTATCAGCATAAAGGTAATATTTAAAGTTTCAGGAATAGATGTGATTATCAGG... | benign | 220,624 |
A mutation at chromosome position 45159094 on chromosome 14 in gene FANCM (FA complementation group M): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Fanconi_anemia'] | ATATGTATGTTAATTAGCTTGATTTAGCCATTTCACAATGTATATAGACATCTCAAAACATATTGTACAACATAAATATATACAACTTTTATTTGTCAATTAAAAAAAAGAATAACAAAAGAAAGAGCAAACATGTTAAGATGTTTTTGAGACACCTAAGTGTCAAGTAGGCATTAGATAACCAAATCTGGATCTCAGAAGAATGATTGCTGCTGTTTTTACATATTTACATATATGTGAATACATTTTGGAGTTATCAGCATAAAGGTAATATTTAAAGTTTCAGGAATAGATGTGATTATCAGGACAACAGTTTAGAG... | ATATGTATGTTAATTAGCTTGATTTAGCCATTTCACAATGTATATAGACATCTCAAAACATATTGTACAACATAAATATATACAACTTTTATTTGTCAATTAAAAAAAAGAATAACAAAAGAAAGAGCAAACATGTTAAGATGTTTTTGAGACACCTAAGTGTCAAGTAGGCATTAGATAACCAAATCTGGATCTCAGAAGAATGATTGCTGCTGTTTTTACATATTTACATATATGTGAATACATTTTGGAGTTATCAGCATAAAGGTAATATTTAAAGTTTCAGGAATAGATGTGATTATCAGGACAACAGTTTAGAG... | pathogenic | 220,627 |
Is the chromosome 14, position 45159189 variant in FANCM (FA complementation group M) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Fanconi_anemia', 'Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation', 'Spermatogenic_failure_28'] | TCAATTAAAAAAAAGAATAACAAAAGAAAGAGCAAACATGTTAAGATGTTTTTGAGACACCTAAGTGTCAAGTAGGCATTAGATAACCAAATCTGGATCTCAGAAGAATGATTGCTGCTGTTTTTACATATTTACATATATGTGAATACATTTTGGAGTTATCAGCATAAAGGTAATATTTAAAGTTTCAGGAATAGATGTGATTATCAGGACAACAGTTTAGAGATATACAGAGGAGGGTCCAGAATGGAGTCCTGAAGAATATCAACAGTTAAGAGTTTGGAGGAAAAAAAGCTTGGGGAGGAAACTGGACAAGTAAA... | TCAATTAAAAAAAAGAATAACAAAAGAAAGAGCAAACATGTTAAGATGTTTTTGAGACACCTAAGTGTCAAGTAGGCATTAGATAACCAAATCTGGATCTCAGAAGAATGATTGCTGCTGTTTTTACATATTTACATATATGTGAATACATTTTGGAGTTATCAGCATAAAGGTAATATTTAAAGTTTCAGGAATAGATGTGATTATCAGGACAACAGTTTAGAGATATACAGAGGAGGGTCCAGAATGGAGTCCTGAAGAATATCAACAGTTAAGAGTTTGGAGGAAAAAAAGCTTGGGGAGGAAACTGGACAAGTAAA... | pathogenic | 220,630 |
Assess the variant on chromosome 14, position 45175336, impacting FANCM (FA complementation group M): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['FANCM-related_disorder', 'Fanconi_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Premature_ovarian_failure_15', 'Spermatogenic_failure_28'] | AAGTAATAAGAAATACTTTGTTTTTCTGTATAGTTCCTTGTGATCTCAGTAAAGAATGAGTTTTCTGCCTTAAGAGAAGAAATAGATTTAATTAATTAGAAGAAGAATATCATCTGTAAATATTGATAGACCAGAGTAGAATTTTAATATACTTAAATGATTTATGTAAACTGTTTGTAAACCTTATTTAGGATTCTTTTGGATTCGGATTTATTGAAATACTCTCTGTCATCTAGGTTATTTGATATCTTTCTTGTATCCTGGTCCTAGTTTAGAGAATTATAGATTCCTTGAGCAGTTCCTTGATTATTCTTCCTAGA... | AAGTAATAAGAAATACTTTGTTTTTCTGTATAGTTCCTTGTGATCTCAGTAAAGAATGAGTTTTCTGCCTTAAGAGAAGAAATAGATTTAATTAATTAGAAGAAGAATATCATCTGTAAATATTGATAGACCAGAGTAGAATTTTAATATACTTAAATGATTTATGTAAACTGTTTGTAAACCTTATTTAGGATTCTTTTGGATTCGGATTTATTGAAATACTCTCTGTCATCTAGGTTATTTGATATCTTTCTTGTATCCTGGTCCTAGTTTAGAGAATTATAGATTCCTTGAGCAGTTCCTTGATTATTCTTCCTAGA... | pathogenic | 220,682 |
Does the variant impacting FANCM (FA complementation group M) on chromosome 14, position 45175586, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fanconi_anemia'] | TTCTTGTATCCTGGTCCTAGTTTAGAGAATTATAGATTCCTTGAGCAGTTCCTTGATTATTCTTCCTAGAGTCAGCATAGTGAACCAATTATGAGTGTGAAATCCATAGTGCCTGGGTTAGAATCCTAACTCTGCCTCCTACTGATTGTGTGTTTGTAAGTTATTTAACCTCTCAGTGCTTCAGTTTTATCTGTAAAATAGTCATAGTGATAATACTTATTTCATAAGGTTGTTGTGAGGATTAAATGACCTAATATATGTAAAGCACGTAGTAGCTGGCATATGATAAGTACACAGTAAATTGTAGCTCCTATTTTTAT... | TTCTTGTATCCTGGTCCTAGTTTAGAGAATTATAGATTCCTTGAGCAGTTCCTTGATTATTCTTCCTAGAGTCAGCATAGTGAACCAATTATGAGTGTGAAATCCATAGTGCCTGGGTTAGAATCCTAACTCTGCCTCCTACTGATTGTGTGTTTGTAAGTTATTTAACCTCTCAGTGCTTCAGTTTTATCTGTAAAATAGTCATAGTGATAATACTTATTTCATAAGGTTGTTGTGAGGATTAAATGACCTAATATATGTAAAGCACGTAGTAGCTGGCATATGATAAGTACACAGTAAATTGTAGCTCCTATTTTTAT... | pathogenic | 220,701 |
Chromosome 14, position 45176732, gene FANCM (FA complementation group M): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia'] | AATGTATATGGTTTTTATTAATATATGTTTTTAAAATATCTATTTTTAAGAAATTAGAATAATTCAGTTAAATGTTAGAAATGTAAAACTCACTATATTCTTATGTATTCATTCAATTTGTTCTTCCTACAAATAGTTACCAAGGGTCTTTTGGGTATTAAGTACTGGGGATACAAAAAAGTTAACTGATTAATGATAACTTGATAGTTTCACAGTAGTGTACTTTATAATTTTGATTTATCGGAATAACTTTTAAGGTATAAAAGAATATCACTGGAACAATGTAATAATATAAATATTTTAATATAGAGTGAAACTCC... | AATGTATATGGTTTTTATTAATATATGTTTTTAAAATATCTATTTTTAAGAAATTAGAATAATTCAGTTAAATGTTAGAAATGTAAAACTCACTATATTCTTATGTATTCATTCAATTTGTTCTTCCTACAAATAGTTACCAAGGGTCTTTTGGGTATTAAGTACTGGGGATACAAAAAAGTTAACTGATTAATGATAACTTGATAGTTTCACAGTAGTGTACTTTATAATTTTGATTTATCGGAATAACTTTTAAGGTATAAAAGAATATCACTGGAACAATGTAATAATATAAATATTTTAATATAGAGTGAAACTCC... | pathogenic | 220,754 |
Considering the genetic mutation at chromosome 14, position 45176751, impacting FANCM (FA complementation group M): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia'] | AATATATGTTTTTAAAATATCTATTTTTAAGAAATTAGAATAATTCAGTTAAATGTTAGAAATGTAAAACTCACTATATTCTTATGTATTCATTCAATTTGTTCTTCCTACAAATAGTTACCAAGGGTCTTTTGGGTATTAAGTACTGGGGATACAAAAAAGTTAACTGATTAATGATAACTTGATAGTTTCACAGTAGTGTACTTTATAATTTTGATTTATCGGAATAACTTTTAAGGTATAAAAGAATATCACTGGAACAATGTAATAATATAAATATTTTAATATAGAGTGAAACTCCTCTCTTAGATTTGGCTTTC... | AATATATGTTTTTAAAATATCTATTTTTAAGAAATTAGAATAATTCAGTTAAATGTTAGAAATGTAAAACTCACTATATTCTTATGTATTCATTCAATTTGTTCTTCCTACAAATAGTTACCAAGGGTCTTTTGGGTATTAAGTACTGGGGATACAAAAAAGTTAACTGATTAATGATAACTTGATAGTTTCACAGTAGTGTACTTTATAATTTTGATTTATCGGAATAACTTTTAAGGTATAAAAGAATATCACTGGAACAATGTAATAATATAAATATTTTAATATAGAGTGAAACTCCTCTCTTAGATTTGGCTTTC... | pathogenic | 220,755 |
Is the chromosome 14, position 45176751 variant in FANCM (FA complementation group M) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Fanconi_anemia'] | AATATATGTTTTTAAAATATCTATTTTTAAGAAATTAGAATAATTCAGTTAAATGTTAGAAATGTAAAACTCACTATATTCTTATGTATTCATTCAATTTGTTCTTCCTACAAATAGTTACCAAGGGTCTTTTGGGTATTAAGTACTGGGGATACAAAAAAGTTAACTGATTAATGATAACTTGATAGTTTCACAGTAGTGTACTTTATAATTTTGATTTATCGGAATAACTTTTAAGGTATAAAAGAATATCACTGGAACAATGTAATAATATAAATATTTTAATATAGAGTGAAACTCCTCTCTTAGATTTGGCTTTC... | AATATATGTTTTTAAAATATCTATTTTTAAGAAATTAGAATAATTCAGTTAAATGTTAGAAATGTAAAACTCACTATATTCTTATGTATTCATTCAATTTGTTCTTCCTACAAATAGTTACCAAGGGTCTTTTGGGTATTAAGTACTGGGGATACAAAAAAGTTAACTGATTAATGATAACTTGATAGTTTCACAGTAGTGTACTTTATAATTTTGATTTATCGGAATAACTTTTAAGGTATAAAAGAATATCACTGGAACAATGTAATAATATAAATATTTTAATATAGAGTGAAACTCCTCTCTTAGATTTGGCTTTC... | pathogenic | 220,756 |
Considering the genetic mutation at chromosome 14, position 45176850, impacting FANCM (FA complementation group M): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia'] | TGTTCTTCCTACAAATAGTTACCAAGGGTCTTTTGGGTATTAAGTACTGGGGATACAAAAAAGTTAACTGATTAATGATAACTTGATAGTTTCACAGTAGTGTACTTTATAATTTTGATTTATCGGAATAACTTTTAAGGTATAAAAGAATATCACTGGAACAATGTAATAATATAAATATTTTAATATAGAGTGAAACTCCTCTCTTAGATTTGGCTTTCTGTTTTGTTTTGTTTTCCTGTGGCTTTTTAAATTTTCCTTATTTATAGGGAGAATGCAGCTATGAATTGGAAGTTGAATCTTATTTACAAATGGAAGAT... | TGTTCTTCCTACAAATAGTTACCAAGGGTCTTTTGGGTATTAAGTACTGGGGATACAAAAAAGTTAACTGATTAATGATAACTTGATAGTTTCACAGTAGTGTACTTTATAATTTTGATTTATCGGAATAACTTTTAAGGTATAAAAGAATATCACTGGAACAATGTAATAATATAAATATTTTAATATAGAGTGAAACTCCTCTCTTAGATTTGGCTTTCTGTTTTGTTTTGTTTTCCTGTGGCTTTTTAAATTTTCCTTATTTATAGGGAGAATGCAGCTATGAATTGGAAGTTGAATCTTATTTACAAATGGAAGAT... | pathogenic | 220,759 |
Gene FANCM (FA complementation group M) variant at chromosome position 45176993 on chromosome 14: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAAAGAATATCACTGGAACAATGTAATAATATAAATATTTTAATATAGAGTGAAACTCCTCTCTTAGATTTGGCTTTCTGTTTTGTTTTGTTTTCCTGTGGCTTTTTAAATTTTCCTTATTTATAGGGAGAATGCAGCTATGAATTGGAAGTTGAATCTTATTTACAAATGGAAGATGTTACCTCAACATTTATTGCTCCCAGGAATGAATCTAATAATCTTGCCAGTGACACCTTTATCACTCACAAGAAATCGTCATTTATAAAGAACATAAATCAAGGCAGTTCATCCTCAGTGATAGAATCTGATGAAGAATGTGC... | AAAAGAATATCACTGGAACAATGTAATAATATAAATATTTTAATATAGAGTGAAACTCCTCTCTTAGATTTGGCTTTCTGTTTTGTTTTGTTTTCCTGTGGCTTTTTAAATTTTCCTTATTTATAGGGAGAATGCAGCTATGAATTGGAAGTTGAATCTTATTTACAAATGGAAGATGTTACCTCAACATTTATTGCTCCCAGGAATGAATCTAATAATCTTGCCAGTGACACCTTTATCACTCACAAGAAATCGTCATTTATAAAGAACATAAATCAAGGCAGTTCATCCTCAGTGATAGAATCTGATGAAGAATGTGC... | benign | 220,765 |
Chromosome 14, position 45183862, gene FANCM (FA complementation group M): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia', 'Premature_ovarian_failure_15'] | AGTTGATATTCTATTGTATGTGATTGGAATTTCTAGCTTCTGTTAGTTTTCAAAGATGTATTCACTGTAAACTTTCCTAAGCACAATAAATAAAAATATTAAGTAATTTTAGACTCTTTAAAAACCATCCTATTTTTGTCAGTACACTTGAGCAATTCGGCAAGCATTCATTAAATACCTCCTATGTGTCTACTGTGTAAGATGCTGGAGATACTCTCAAGAATATATCCTAAAACTGTCATAAGTTACTCAATAGGAGAGACAGAGAAGTAAACAGATAATTTCAGTATAATTTTTAAAGTTGAGTGATAAGAAAAGTT... | AGTTGATATTCTATTGTATGTGATTGGAATTTCTAGCTTCTGTTAGTTTTCAAAGATGTATTCACTGTAAACTTTCCTAAGCACAATAAATAAAAATATTAAGTAATTTTAGACTCTTTAAAAACCATCCTATTTTTGTCAGTACACTTGAGCAATTCGGCAAGCATTCATTAAATACCTCCTATGTGTCTACTGTGTAAGATGCTGGAGATACTCTCAAGAATATATCCTAAAACTGTCATAAGTTACTCAATAGGAGAGACAGAGAAGTAAACAGATAATTTCAGTATAATTTTTAAAGTTGAGTGATAAGAAAAGTT... | pathogenic | 220,783 |
Considering the genetic mutation at chromosome 14, position 45183908, impacting FANCM (FA complementation group M): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTTTCAAAGATGTATTCACTGTAAACTTTCCTAAGCACAATAAATAAAAATATTAAGTAATTTTAGACTCTTTAAAAACCATCCTATTTTTGTCAGTACACTTGAGCAATTCGGCAAGCATTCATTAAATACCTCCTATGTGTCTACTGTGTAAGATGCTGGAGATACTCTCAAGAATATATCCTAAAACTGTCATAAGTTACTCAATAGGAGAGACAGAGAAGTAAACAGATAATTTCAGTATAATTTTTAAAGTTGAGTGATAAGAAAAGTTAAGCCCTTAACCTCGATCTCGGGAGTTCTGGCAAGCTTCTTGAAGG... | TTTTCAAAGATGTATTCACTGTAAACTTTCCTAAGCACAATAAATAAAAATATTAAGTAATTTTAGACTCTTTAAAAACCATCCTATTTTTGTCAGTACACTTGAGCAATTCGGCAAGCATTCATTAAATACCTCCTATGTGTCTACTGTGTAAGATGCTGGAGATACTCTCAAGAATATATCCTAAAACTGTCATAAGTTACTCAATAGGAGAGACAGAGAAGTAAACAGATAATTTCAGTATAATTTTTAAAGTTGAGTGATAAGAAAAGTTAAGCCCTTAACCTCGATCTCGGGAGTTCTGGCAAGCTTCTTGAAGG... | benign | 220,785 |
Variant in FANCM (FA complementation group M), chromosome 14, position 45185207—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACTAGAACATCTGATTGACTTATCAGAAATGATTTAAAATATTGATAATGCTGATGATCAATTTGTTTTAAACTAAATTTATTCCTGTTAATTGAAATGATTTTGATAAACTTTTGATTCTTTTGACTGGTTTTGTGTTATCCTATAAGAGATATGGTGATAGGCCTCATAGTCAAAACTTGTTATTGTTTTATTTGTTTCTTAGTTTCAAATGATTCCTATATTTGGACTGATTTTGATGGCCAAATTTATAGGCTTGTTCTTTGTGAAGCCCTTGAAGATCTTCTGAAGGAAATACTGTTAAACTAAAAGTATCAGTT... | ACTAGAACATCTGATTGACTTATCAGAAATGATTTAAAATATTGATAATGCTGATGATCAATTTGTTTTAAACTAAATTTATTCCTGTTAATTGAAATGATTTTGATAAACTTTTGATTCTTTTGACTGGTTTTGTGTTATCCTATAAGAGATATGGTGATAGGCCTCATAGTCAAAACTTGTTATTGTTTTATTTGTTTCTTAGTTTCAAATGATTCCTATATTTGGACTGATTTTGATGGCCAAATTTATAGGCTTGTTCTTTGTGAAGCCCTTGAAGATCTTCTGAAGGAAATACTGTTAAACTAAAAGTATCAGTT... | benign | 220,786 |
Gene mutation in FANCM (FA complementation group M) at chromosome 14, position 45185335—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Fanconi_anemia'] | GGTTTTGTGTTATCCTATAAGAGATATGGTGATAGGCCTCATAGTCAAAACTTGTTATTGTTTTATTTGTTTCTTAGTTTCAAATGATTCCTATATTTGGACTGATTTTGATGGCCAAATTTATAGGCTTGTTCTTTGTGAAGCCCTTGAAGATCTTCTGAAGGAAATACTGTTAAACTAAAAGTATCAGTTTTCTAAGTCACCATAGTGTTTGCAGAAAAAATAAAAATAAAAACTAAAAGTATGTTTTCATCAAACATATTCGATGTAATACTATATTGGATGAATACCTATACTAGTATTACTTATAACCTAATTTA... | GGTTTTGTGTTATCCTATAAGAGATATGGTGATAGGCCTCATAGTCAAAACTTGTTATTGTTTTATTTGTTTCTTAGTTTCAAATGATTCCTATATTTGGACTGATTTTGATGGCCAAATTTATAGGCTTGTTCTTTGTGAAGCCCTTGAAGATCTTCTGAAGGAAATACTGTTAAACTAAAAGTATCAGTTTTCTAAGTCACCATAGTGTTTGCAGAAAAAATAAAAATAAAAACTAAAAGTATGTTTTCATCAAACATATTCGATGTAATACTATATTGGATGAATACCTATACTAGTATTACTTATAACCTAATTTA... | pathogenic | 220,797 |
Evaluate this variant at chromosome 14, position 45189068, gene FANCM (FA complementation group M): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Fanconi_anemia'] | ACATAAAGCTGACAGGATTTTCCAATGGATTAGAAAAAAAGGAGGAGTCAGTAGGCTTGAGCAACAAGAAGGACATATTTGCTGTTATGTTATTGGGAAGGCTGCAGATGAAGCAATTTAGATGGTGATTATAGAGGTTTGAAATTCCATTTTAGACACAGTATGTTTGAACTATGTACAATTTCAAAGCTTTTTTTTTTTTTAAAGTACCTCGAAATTCACATTATCTTTTGTTTTTATGTATCATGTCTCAAGTACCTTTCATTATATTATAACTTTTAAAAATGCTAGCCATAAAAAAAAACCAATGTGTTTCCCAG... | ACATAAAGCTGACAGGATTTTCCAATGGATTAGAAAAAAAGGAGGAGTCAGTAGGCTTGAGCAACAAGAAGGACATATTTGCTGTTATGTTATTGGGAAGGCTGCAGATGAAGCAATTTAGATGGTGATTATAGAGGTTTGAAATTCCATTTTAGACACAGTATGTTTGAACTATGTACAATTTCAAAGCTTTTTTTTTTTTTAAAGTACCTCGAAATTCACATTATCTTTTGTTTTTATGTATCATGTCTCAAGTACCTTTCATTATATTATAACTTTTAAAAATGCTAGCCATAAAAAAAAACCAATGTGTTTCCCAG... | pathogenic | 220,816 |
Clinical impact (benign or pathogenic) of the variant at chromosome 14, location 45189222, gene FANCM (FA complementation group M): what disease(s) if pathogenic? | pathogenic; ['Fanconi_anemia'] | GACACAGTATGTTTGAACTATGTACAATTTCAAAGCTTTTTTTTTTTTTAAAGTACCTCGAAATTCACATTATCTTTTGTTTTTATGTATCATGTCTCAAGTACCTTTCATTATATTATAACTTTTAAAAATGCTAGCCATAAAAAAAAACCAATGTGTTTCCCAGGTTTTGCTTAACTGAAAATTATGAAATATACTTTTTATTGGCTGTGGGTTTTAATGTTTTTAGTGCATATTTGCTTTTCTGGCTAGATTTCTTATTTTTTTTGAAACTTCTATAAATCTGGTACAGTTTTAAGGTCTTTGTATACCTTTGTTTT... | GACACAGTATGTTTGAACTATGTACAATTTCAAAGCTTTTTTTTTTTTTAAAGTACCTCGAAATTCACATTATCTTTTGTTTTTATGTATCATGTCTCAAGTACCTTTCATTATATTATAACTTTTAAAAATGCTAGCCATAAAAAAAAACCAATGTGTTTCCCAGGTTTTGCTTAACTGAAAATTATGAAATATACTTTTTATTGGCTGTGGGTTTTAATGTTTTTAGTGCATATTTGCTTTTCTGGCTAGATTTCTTATTTTTTTTGAAACTTCTATAAATCTGGTACAGTTTTAAGGTCTTTGTATACCTTTGTTTT... | pathogenic | 220,824 |
A genetic variant at chromosome 14, position 45189242, affecting gene FANCM (FA complementation group M)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['FANCM-related_disorder', 'Fanconi_anemia'] | TGTACAATTTCAAAGCTTTTTTTTTTTTTAAAGTACCTCGAAATTCACATTATCTTTTGTTTTTATGTATCATGTCTCAAGTACCTTTCATTATATTATAACTTTTAAAAATGCTAGCCATAAAAAAAAACCAATGTGTTTCCCAGGTTTTGCTTAACTGAAAATTATGAAATATACTTTTTATTGGCTGTGGGTTTTAATGTTTTTAGTGCATATTTGCTTTTCTGGCTAGATTTCTTATTTTTTTTGAAACTTCTATAAATCTGGTACAGTTTTAAGGTCTTTGTATACCTTTGTTTTGAAAGAAAAGTCACCATTTT... | TGTACAATTTCAAAGCTTTTTTTTTTTTTAAAGTACCTCGAAATTCACATTATCTTTTGTTTTTATGTATCATGTCTCAAGTACCTTTCATTATATTATAACTTTTAAAAATGCTAGCCATAAAAAAAAACCAATGTGTTTCCCAGGTTTTGCTTAACTGAAAATTATGAAATATACTTTTTATTGGCTGTGGGTTTTAATGTTTTTAGTGCATATTTGCTTTTCTGGCTAGATTTCTTATTTTTTTTGAAACTTCTATAAATCTGGTACAGTTTTAAGGTCTTTGTATACCTTTGTTTTGAAAGAAAAGTCACCATTTT... | pathogenic | 220,827 |
Mutation at chromosome 14, position 45189335, within FANCM (FA complementation group M): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['FANCM-related_disorder', 'Fanconi_anemia'] | TATTATAACTTTTAAAAATGCTAGCCATAAAAAAAAACCAATGTGTTTCCCAGGTTTTGCTTAACTGAAAATTATGAAATATACTTTTTATTGGCTGTGGGTTTTAATGTTTTTAGTGCATATTTGCTTTTCTGGCTAGATTTCTTATTTTTTTTGAAACTTCTATAAATCTGGTACAGTTTTAAGGTCTTTGTATACCTTTGTTTTGAAAGAAAAGTCACCATTTTAATCCTCATTTTCAGAGAGATAGATAAAGCAGGGAACTTAAGTTGTCCATGATCACTCAACTAGAAAATCTGATTTCAAAGGCTAAACTCCTA... | TATTATAACTTTTAAAAATGCTAGCCATAAAAAAAAACCAATGTGTTTCCCAGGTTTTGCTTAACTGAAAATTATGAAATATACTTTTTATTGGCTGTGGGTTTTAATGTTTTTAGTGCATATTTGCTTTTCTGGCTAGATTTCTTATTTTTTTTGAAACTTCTATAAATCTGGTACAGTTTTAAGGTCTTTGTATACCTTTGTTTTGAAAGAAAAGTCACCATTTTAATCCTCATTTTCAGAGAGATAGATAAAGCAGGGAACTTAAGTTGTCCATGATCACTCAACTAGAAAATCTGATTTCAAAGGCTAAACTCCTA... | pathogenic | 220,831 |
Clinical significance of chromosome 14, position 45196193, gene FANCM (FA complementation group M): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia'] | TATAAAAATCAGCCAGGTGTCGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGTAGGCAGAGGTTGCAGTGAGCTGAGACTGCACCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAACAAAAAAAAACCAAACAAATTCCAGTTTTATTTTTGTGTCCTTCACTGCTTCCTTCCTTGTACAAAGGTAATAATTAAAAATACCTACATACTTCGCTTTGTTTATACATTGCTTGAAATATATAATTAGATACTTTTATATTTTTAAT... | TATAAAAATCAGCCAGGTGTCGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGTAGGCAGAGGTTGCAGTGAGCTGAGACTGCACCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAACAAAAAAAAACCAAACAAATTCCAGTTTTATTTTTGTGTCCTTCACTGCTTCCTTCCTTGTACAAAGGTAATAATTAAAAATACCTACATACTTCGCTTTGTTTATACATTGCTTGAAATATATAATTAGATACTTTTATATTTTTAAT... | pathogenic | 220,838 |
Variant at chromosome position 45198673, chromosome 14, gene FANCM (FA complementation group M): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Fanconi_anemia'] | AGGATGTGGGAAACTCTTAAAATATAAACACCTGACTGGTGAATGTCATTTCATATTTTCATACAGCCATAATGGCTTTCATTAGTCATTGTATTTAAATGCAGCTTATGAGAAATGAAGGGTTGGAAACTGAAGGCAAGTCTGCCAAACATAAGACTTTTTCAGGAACCCAGGAAGGATGAGGGCCTTAACTAAGGCAGCAATGGGGAGGAGAAGTAGTATTCGGGAGATGTTTAAGGAGTCAGGATTAGCAAGAGTTGGTGGGAGGAGTTGAGAATTACTGAGTTGACCAACTTCTTGGTTATTGGGCAGTTAAGTAG... | AGGATGTGGGAAACTCTTAAAATATAAACACCTGACTGGTGAATGTCATTTCATATTTTCATACAGCCATAATGGCTTTCATTAGTCATTGTATTTAAATGCAGCTTATGAGAAATGAAGGGTTGGAAACTGAAGGCAAGTCTGCCAAACATAAGACTTTTTCAGGAACCCAGGAAGGATGAGGGCCTTAACTAAGGCAGCAATGGGGAGGAGAAGTAGTATTCGGGAGATGTTTAAGGAGTCAGGATTAGCAAGAGTTGGTGGGAGGAGTTGAGAATTACTGAGTTGACCAACTTCTTGGTTATTGGGCAGTTAAGTAG... | pathogenic | 220,853 |
Classify the chromosome 14 variant at position 49583678 affecting gene RPS29 (ribosomal protein S29) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AGGCCTCCCCAAGTGCTGGGAATACAGGAGTGAGCCACTACGCCCAGCCCCTAAGAGTCATTATCTACTCCTATCTCCTGTATCGGTTCCTTCAACAAACCTTGTCTCCCACAGTAAGGCTGGCTGTAGTGGTGCTCACCTGTAATCCCAACACTTTGAGAGACCAAGGCGGGCTGATCACTTGAACCCAGGAGTTCAAGACCAGCCTGGACAACAAACCCCGTCTCTACTAAAAACACAAAATATTATCCTGGCATGGTGGTGTACACCATGTCCCAGCTACTCAGAAGGCTGAAGTGGAAGGATAGCTTGAGCCCAAG... | AGGCCTCCCCAAGTGCTGGGAATACAGGAGTGAGCCACTACGCCCAGCCCCTAAGAGTCATTATCTACTCCTATCTCCTGTATCGGTTCCTTCAACAAACCTTGTCTCCCACAGTAAGGCTGGCTGTAGTGGTGCTCACCTGTAATCCCAACACTTTGAGAGACCAAGGCGGGCTGATCACTTGAACCCAGGAGTTCAAGACCAGCCTGGACAACAAACCCCGTCTCTACTAAAAACACAAAATATTATCCTGGCATGGTGGTGTACACCATGTCCCAGCTACTCAGAAGGCTGAAGTGGAAGGATAGCTTGAGCCCAAG... | benign | 220,883 |
Evaluate if the mutation on chromosome 14 at position 49622270 in MGAT2 (alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | AGAATGGCTGGGGCAGCGCGCGACGTTGTAGCTACGGTTACGACCCGCCCCGTTCCTTCTACGAGAACCACATCAGCGTAGTATCACTTTTCCCCTCCGAAGCACAGTCACCCGTCAGCAGCCTCGAGGGCTGACGTGTCCTTATCAAGCCGGCGCGCCCCGCGATTCTATAGCCGCCATGCCTGAGACCTTTTTCCTGAAGGGAGAAGCCTGCTCTCGAACTAAGGCCGGCGAGGGCCATAGGTCTCGCCTTCCCTTTCCTAAGAAGGCCTAGTCCTACCCAGGATTCTGAGCAAGGGAGGCTCCTATTGGAGCCGCTA... | AGAATGGCTGGGGCAGCGCGCGACGTTGTAGCTACGGTTACGACCCGCCCCGTTCCTTCTACGAGAACCACATCAGCGTAGTATCACTTTTCCCCTCCGAAGCACAGTCACCCGTCAGCAGCCTCGAGGGCTGACGTGTCCTTATCAAGCCGGCGCGCCCCGCGATTCTATAGCCGCCATGCCTGAGACCTTTTTCCTGAAGGGAGAAGCCTGCTCTCGAACTAAGGCCGGCGAGGGCCATAGGTCTCGCCTTCCCTTTCCTAAGAAGGCCTAGTCCTACCCAGGATTCTGAGCAAGGGAGGCTCCTATTGGAGCCGCTA... | pathogenic | 220,899 |
Evaluate if the mutation on chromosome 14 at position 49633990 in DNAAF2 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_10'] | CATGCTGTTGTTCCATCAGCTTTAGAAAAATGTGATGATTAGTGAAGTAATTACAAATCTATTTCAGGCTTCAAAGATATAAAATACAGTTGCCCTAATCCCATTTTCGTCGTTTATTTTCTAAAATGTTAGCATACTTGAAAATCGGATTAAAATGTATTATTGAATATTTTCTTAATTGCTTGTCTACAAAGTTTTCTTCCCACATTGTGGGTTATTTTCATATTTACTAAAACTGTTACAGGAAAACAACTGCCCTTTCCTAAATGTCCCACTTCTGATGACAAAAACAGATACTCAGTTTCATATTTTATATTCTA... | CATGCTGTTGTTCCATCAGCTTTAGAAAAATGTGATGATTAGTGAAGTAATTACAAATCTATTTCAGGCTTCAAAGATATAAAATACAGTTGCCCTAATCCCATTTTCGTCGTTTATTTTCTAAAATGTTAGCATACTTGAAAATCGGATTAAAATGTATTATTGAATATTTTCTTAATTGCTTGTCTACAAAGTTTTCTTCCCACATTGTGGGTTATTTTCATATTTACTAAAACTGTTACAGGAAAACAACTGCCCTTTCCTAAATGTCCCACTTCTGATGACAAAAACAGATACTCAGTTTCATATTTTATATTCTA... | pathogenic | 220,934 |
Variant at chromosome 14, position 49634328, gene DNAAF2 (dynein axonemal assembly factor 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['DNAAF2-related_disorder', 'Primary_ciliary_dyskinesia'] | CCCAGCTATTTATTTTACCACTTTTGGAAGGTTTCCAATTAGCCACTTCTCATAGAGATACCCAACTCAAAAATTACACATGTAACTTCCTAGCAAATTTCTAGAAAAACGAGGGAAAAGTAAAATTTTCTCGTAAGTTAAAGCCCAAAGTCTAATACTTAATTTTTCTTTTTTTTTTTTTTTGATACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTAGCATGATATCGGCTCACTGCAACCTCCACCTCCTGCGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACGGGTGCCCGCCAC... | CCCAGCTATTTATTTTACCACTTTTGGAAGGTTTCCAATTAGCCACTTCTCATAGAGATACCCAACTCAAAAATTACACATGTAACTTCCTAGCAAATTTCTAGAAAAACGAGGGAAAAGTAAAATTTTCTCGTAAGTTAAAGCCCAAAGTCTAATACTTAATTTTTCTTTTTTTTTTTTTTTGATACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTAGCATGATATCGGCTCACTGCAACCTCCACCTCCTGCGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACGGGTGCCCGCCAC... | pathogenic | 220,940 |
Evaluate the clinical significance of the mutation at chromosome 14, position 49634673 in gene DNAAF2 (dynein axonemal assembly factor 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_10'] | TAATAGTGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCAAAGTCCTGACCTCAGAAGATCCACCCGCCTTGGCCCCCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCACCCAGCCAACTAATACTTAATTTTTAATATATAATCCGTGCAGCTAGTGTTGTTTCTCAACACTTAACTCTTGTTTATGTTAAAAGAGCTAAAAAAATTACATGTAACATTAACAAAAACCACCAATTGTCCATTTATGAGTTTAAAGAGTCTTCAGAACTTCAAATTTTAAGTTGTTTTTTTTTTTGTTTTTTGTTTTTGAGAC... | TAATAGTGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCAAAGTCCTGACCTCAGAAGATCCACCCGCCTTGGCCCCCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCACCCAGCCAACTAATACTTAATTTTTAATATATAATCCGTGCAGCTAGTGTTGTTTCTCAACACTTAACTCTTGTTTATGTTAAAAGAGCTAAAAAAATTACATGTAACATTAACAAAAACCACCAATTGTCCATTTATGAGTTTAAAGAGTCTTCAGAACTTCAAATTTTAAGTTGTTTTTTTTTTTGTTTTTTGTTTTTGAGAC... | pathogenic | 220,947 |
Clinical significance of chromosome 14, position 49789272, gene NEMF (nuclear export mediator factor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | TATCTGGAGATAACTGACTGTCTCAGTCTGTTCAGGCTGCTGTAACAAAATACCTTAGCCTGTATAATTTAGAAACAACAGAAATTTTACTTCTTACAGTTCTGAAGGCTGGGAAGTCCAGCATCAAGGCACCAGCAGATTCAATGTCTGATAAGGGCTTGCCTCAAAGATGGTACCTTAGGCTGGGTGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTCGGGGGATCCCTTGAGCCCAGGAGTTCGACACCAGCCTGGGCAACACAGGGAGACCTCATCTTAAAAAAAGATGGCACCTTATTGCA... | TATCTGGAGATAACTGACTGTCTCAGTCTGTTCAGGCTGCTGTAACAAAATACCTTAGCCTGTATAATTTAGAAACAACAGAAATTTTACTTCTTACAGTTCTGAAGGCTGGGAAGTCCAGCATCAAGGCACCAGCAGATTCAATGTCTGATAAGGGCTTGCCTCAAAGATGGTACCTTAGGCTGGGTGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTCGGGGGATCCCTTGAGCCCAGGAGTTCGACACCAGCCTGGGCAACACAGGGAGACCTCATCTTAAAAAAAGATGGCACCTTATTGCA... | pathogenic | 220,968 |
Considering the variant on chromosome 14, location 50118585, involving gene SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CCAGCGTATCCGCCATTGCGCCCGGCAACAGAAAGCGGCGCGCGCAGGGACGTCACATCAACGCGCACCGCCCCGCCCTGCGGCTCCGCCCCCTGCCCGCCGCTGAGTTGGCGACGCAGCGCGCGCGAGTTAACAAAGCCCGGAAGGCAGCGTTACCTGGGCGGGGCCGAGCGTGGGGCCCCTGCTTACCCGACGCGCTTGGCAGCCTCCCTCTACCCTAAATCACACGTTTGGCTTAACGAAGAGGCCGTTTAAATCACTTTCCCAGACAAAACTATTATAATCTGCTCTTTAAAAAACAAAGCCAACCTCAGAGTTTA... | CCAGCGTATCCGCCATTGCGCCCGGCAACAGAAAGCGGCGCGCGCAGGGACGTCACATCAACGCGCACCGCCCCGCCCTGCGGCTCCGCCCCCTGCCCGCCGCTGAGTTGGCGACGCAGCGCGCGCGAGTTAACAAAGCCCGGAAGGCAGCGTTACCTGGGCGGGGCCGAGCGTGGGGCCCCTGCTTACCCGACGCGCTTGGCAGCCTCCCTCTACCCTAAATCACACGTTTGGCTTAACGAAGAGGCCGTTTAAATCACTTTCCCAGACAAAACTATTATAATCTGCTCTTTAAAAAACAAAGCCAACCTCAGAGTTTA... | benign | 220,994 |
Considering the variant on chromosome 14, location 50118794, involving gene SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CCTCTACCCTAAATCACACGTTTGGCTTAACGAAGAGGCCGTTTAAATCACTTTCCCAGACAAAACTATTATAATCTGCTCTTTAAAAAACAAAGCCAACCTCAGAGTTTACCAAGTTGGACACTTGATTTACATAGTAGTTACAAGGCTTAAATGCAATCAGCTTCCAAGATCCTACCAAAGATGGCTATAATCTTACAATCTTCCTTTTCAAGTTCCTAGTATGCTCCTAGTTTTTTGTATGAATTCATAAAAGTGGTTGCTAGAAGCCTGCAGCTCACATTTAACAGTGAAGAAAAAATTGTGTGTGTGTGTGTGTG... | CCTCTACCCTAAATCACACGTTTGGCTTAACGAAGAGGCCGTTTAAATCACTTTCCCAGACAAAACTATTATAATCTGCTCTTTAAAAAACAAAGCCAACCTCAGAGTTTACCAAGTTGGACACTTGATTTACATAGTAGTTACAAGGCTTAAATGCAATCAGCTTCCAAGATCCTACCAAAGATGGCTATAATCTTACAATCTTCCTTTTCAAGTTCCTAGTATGCTCCTAGTTTTTTGTATGAATTCATAAAAGTGGTTGCTAGAAGCCTGCAGCTCACATTTAACAGTGAAGAAAAAATTGTGTGTGTGTGTGTGTG... | benign | 221,005 |
Is the genetic change at chromosome 14, position 50118856, within gene SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2) benign or pathogenic? Name the disease(s) if pathogenic. | benign | AAACTATTATAATCTGCTCTTTAAAAAACAAAGCCAACCTCAGAGTTTACCAAGTTGGACACTTGATTTACATAGTAGTTACAAGGCTTAAATGCAATCAGCTTCCAAGATCCTACCAAAGATGGCTATAATCTTACAATCTTCCTTTTCAAGTTCCTAGTATGCTCCTAGTTTTTTGTATGAATTCATAAAAGTGGTTGCTAGAAGCCTGCAGCTCACATTTAACAGTGAAGAAAAAATTGTGTGTGTGTGTGTGTGTGTCTATAGGACTCAACAATCTCCCCCTTTGTTCCTTATAATGAAAACACATATTTTAAAAG... | AAACTATTATAATCTGCTCTTTAAAAAACAAAGCCAACCTCAGAGTTTACCAAGTTGGACACTTGATTTACATAGTAGTTACAAGGCTTAAATGCAATCAGCTTCCAAGATCCTACCAAAGATGGCTATAATCTTACAATCTTCCTTTTCAAGTTCCTAGTATGCTCCTAGTTTTTTGTATGAATTCATAAAAGTGGTTGCTAGAAGCCTGCAGCTCACATTTAACAGTGAAGAAAAAATTGTGTGTGTGTGTGTGTGTGTCTATAGGACTCAACAATCTCCCCCTTTGTTCCTTATAATGAAAACACATATTTTAAAAG... | benign | 221,010 |
For chromosome 14, position 50118856, gene SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AAACTATTATAATCTGCTCTTTAAAAAACAAAGCCAACCTCAGAGTTTACCAAGTTGGACACTTGATTTACATAGTAGTTACAAGGCTTAAATGCAATCAGCTTCCAAGATCCTACCAAAGATGGCTATAATCTTACAATCTTCCTTTTCAAGTTCCTAGTATGCTCCTAGTTTTTTGTATGAATTCATAAAAGTGGTTGCTAGAAGCCTGCAGCTCACATTTAACAGTGAAGAAAAAATTGTGTGTGTGTGTGTGTGTGTCTATAGGACTCAACAATCTCCCCCTTTGTTCCTTATAATGAAAACACATATTTTAAAAG... | AAACTATTATAATCTGCTCTTTAAAAAACAAAGCCAACCTCAGAGTTTACCAAGTTGGACACTTGATTTACATAGTAGTTACAAGGCTTAAATGCAATCAGCTTCCAAGATCCTACCAAAGATGGCTATAATCTTACAATCTTCCTTTTCAAGTTCCTAGTATGCTCCTAGTTTTTTGTATGAATTCATAAAAGTGGTTGCTAGAAGCCTGCAGCTCACATTTAACAGTGAAGAAAAAATTGTGTGTGTGTGTGTGTGTGTCTATAGGACTCAACAATCTCCCCCTTTGTTCCTTATAATGAAAACACATATTTTAAAAG... | benign | 221,011 |
Considering the genetic mutation at chromosome 14, position 50118856, impacting SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAACTATTATAATCTGCTCTTTAAAAAACAAAGCCAACCTCAGAGTTTACCAAGTTGGACACTTGATTTACATAGTAGTTACAAGGCTTAAATGCAATCAGCTTCCAAGATCCTACCAAAGATGGCTATAATCTTACAATCTTCCTTTTCAAGTTCCTAGTATGCTCCTAGTTTTTTGTATGAATTCATAAAAGTGGTTGCTAGAAGCCTGCAGCTCACATTTAACAGTGAAGAAAAAATTGTGTGTGTGTGTGTGTGTGTCTATAGGACTCAACAATCTCCCCCTTTGTTCCTTATAATGAAAACACATATTTTAAAAG... | AAACTATTATAATCTGCTCTTTAAAAAACAAAGCCAACCTCAGAGTTTACCAAGTTGGACACTTGATTTACATAGTAGTTACAAGGCTTAAATGCAATCAGCTTCCAAGATCCTACCAAAGATGGCTATAATCTTACAATCTTCCTTTTCAAGTTCCTAGTATGCTCCTAGTTTTTTGTATGAATTCATAAAAGTGGTTGCTAGAAGCCTGCAGCTCACATTTAACAGTGAAGAAAAAATTGTGTGTGTGTGTGTGTGTGTCTATAGGACTCAACAATCTCCCCCTTTGTTCCTTATAATGAAAACACATATTTTAAAAG... | benign | 221,012 |
Is the chromosome 14, position 50138789 variant in SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CACCACACCCAGCGAATTTTTGTATTTTTAGTGGAGACAGAGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCTCAAAGTGCTGGATTTACAGGCATTAGCCACTGTGCCCGACCTATCATTTTTATAAATGGTATGCTTTAGGTGGTCTTTTTCTTAGGACTTTAGGGTACTTTGTTTTGAACCGGGAACAAAGAAGTTTCTATCTCATAATTTAGGAGGGTGGAAGTAATGGTGGATATTTTCACTCAATATGCCCAATTTGCATGCAGATTATGTCTAAAAAG... | CACCACACCCAGCGAATTTTTGTATTTTTAGTGGAGACAGAGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCTCAAAGTGCTGGATTTACAGGCATTAGCCACTGTGCCCGACCTATCATTTTTATAAATGGTATGCTTTAGGTGGTCTTTTTCTTAGGACTTTAGGGTACTTTGTTTTGAACCGGGAACAAAGAAGTTTCTATCTCATAATTTAGGAGGGTGGAAGTAATGGTGGATATTTTCACTCAATATGCCCAATTTGCATGCAGATTATGTCTAAAAAG... | benign | 221,047 |
The genetic variant at chromosome 14, position 50138789, affecting gene SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2): benign or pathogenic? Disease name(s) if pathogenic? | benign | CACCACACCCAGCGAATTTTTGTATTTTTAGTGGAGACAGAGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCTCAAAGTGCTGGATTTACAGGCATTAGCCACTGTGCCCGACCTATCATTTTTATAAATGGTATGCTTTAGGTGGTCTTTTTCTTAGGACTTTAGGGTACTTTGTTTTGAACCGGGAACAAAGAAGTTTCTATCTCATAATTTAGGAGGGTGGAAGTAATGGTGGATATTTTCACTCAATATGCCCAATTTGCATGCAGATTATGTCTAAAAAG... | CACCACACCCAGCGAATTTTTGTATTTTTAGTGGAGACAGAGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCTCAAAGTGCTGGATTTACAGGCATTAGCCACTGTGCCCGACCTATCATTTTTATAAATGGTATGCTTTAGGTGGTCTTTTTCTTAGGACTTTAGGGTACTTTGTTTTGAACCGGGAACAAAGAAGTTTCTATCTCATAATTTAGGAGGGTGGAAGTAATGGTGGATATTTTCACTCAATATGCCCAATTTGCATGCAGATTATGTCTAAAAAG... | benign | 221,048 |
Is the variant located on chromosome 14 at position 50138789, gene SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CACCACACCCAGCGAATTTTTGTATTTTTAGTGGAGACAGAGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCTCAAAGTGCTGGATTTACAGGCATTAGCCACTGTGCCCGACCTATCATTTTTATAAATGGTATGCTTTAGGTGGTCTTTTTCTTAGGACTTTAGGGTACTTTGTTTTGAACCGGGAACAAAGAAGTTTCTATCTCATAATTTAGGAGGGTGGAAGTAATGGTGGATATTTTCACTCAATATGCCCAATTTGCATGCAGATTATGTCTAAAAAG... | CACCACACCCAGCGAATTTTTGTATTTTTAGTGGAGACAGAGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCTCAAAGTGCTGGATTTACAGGCATTAGCCACTGTGCCCGACCTATCATTTTTATAAATGGTATGCTTTAGGTGGTCTTTTTCTTAGGACTTTAGGGTACTTTGTTTTGAACCGGGAACAAAGAAGTTTCTATCTCATAATTTAGGAGGGTGGAAGTAATGGTGGATATTTTCACTCAATATGCCCAATTTGCATGCAGATTATGTCTAAAAAG... | benign | 221,049 |
Chromosome 14, position 50156978, gene SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GTCTTCAGTGGCAGCAAGAAAAAAATGTATTTAATTATATGCACATTTTAGAACAAAAGAAAAACAAACACTGAACTGTTAATGACATACAAGTTGAAGTATTTAAGGAGTGTACTTCAAAATTCATACAAAAAAATGAACTGATAGATGAATGATAAATGAACACATAAATGAATAGATATGAATAGATGAATACATATCTAGGTGGTGGGTTTATGGGTGTTCATTGTAAAATTCTCAGTTTTGCTGTATGTTAAAATTTTTCATAATAAAATGTTAGAAAAATTACTACCACCCATTTTACTAGAAATCTTTCAATA... | GTCTTCAGTGGCAGCAAGAAAAAAATGTATTTAATTATATGCACATTTTAGAACAAAAGAAAAACAAACACTGAACTGTTAATGACATACAAGTTGAAGTATTTAAGGAGTGTACTTCAAAATTCATACAAAAAAATGAACTGATAGATGAATGATAAATGAACACATAAATGAATAGATATGAATAGATGAATACATATCTAGGTGGTGGGTTTATGGGTGTTCATTGTAAAATTCTCAGTTTTGCTGTATGTTAAAATTTTTCATAATAAAATGTTAGAAAAATTACTACCACCCATTTTACTAGAAATCTTTCAATA... | benign | 221,098 |
Evaluate the clinical significance of the mutation at chromosome 14, position 50180685 in gene SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CATGCCCGCTAGTGTGTGTGTGTGTGTGTGTGTGCATATATATATATATATATATATATATATATATATATATATACACACATATACACACACATATATATATATATATTTTTTGGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCACACCCAGCTAATTTTTGCATTTTTTAGTAGAGACAGGGTTTCGCCAGGCTGGCAAGGCTGGTCTGGA... | CATGCCCGCTAGTGTGTGTGTGTGTGTGTGTGTGCATATATATATATATATATATATATATATATATATATATATACACACATATACACACACATATATATATATATATTTTTTGGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCACACCCAGCTAATTTTTGCATTTTTTAGTAGAGACAGGGTTTCGCCAGGCTGGCAAGGCTGGTCTGGA... | benign | 221,165 |
A genetic variant at chromosome 14, position 50265438, affecting gene L2HGDH (L-2-hydroxyglutarate dehydrogenase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['L-2-hydroxyglutaric_aciduria'] | GTTTTAATCTTCTAAGGATTCAAACATGCTGGTCTCAGAATGATACATTACAGTCAGATTTAAACGAGGACGCTCCCCTAAGAGAGACAGCTGACATGATTATTGCTCTCTACACAGATACACAGTCAAGCCTGCTGACATTTTTTACCAGGCTAGTTCAGCAGCTGTTGCAGAGAAAGCAGATATCTAGTGCTAAGAAAATTCATGGAGGGATGGATTGTAAATGGAGGGTGAGAGTACCTCAAAGTACACTGCTGATTAGGCCTAACGAATGGCTTGCTCAGGAAAAAAGGTGAACACTAAAAACATTACCAAAGAGG... | GTTTTAATCTTCTAAGGATTCAAACATGCTGGTCTCAGAATGATACATTACAGTCAGATTTAAACGAGGACGCTCCCCTAAGAGAGACAGCTGACATGATTATTGCTCTCTACACAGATACACAGTCAAGCCTGCTGACATTTTTTACCAGGCTAGTTCAGCAGCTGTTGCAGAGAAAGCAGATATCTAGTGCTAAGAAAATTCATGGAGGGATGGATTGTAAATGGAGGGTGAGAGTACCTCAAAGTACACTGCTGATTAGGCCTAACGAATGGCTTGCTCAGGAAAAAAGGTGAACACTAAAAACATTACCAAAGAGG... | pathogenic | 221,234 |
The mutation in gene L2HGDH (L-2-hydroxyglutarate dehydrogenase) at chromosome 14, position 50267857—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['L-2-hydroxyglutaric_aciduria'] | GAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACCCTCTCTCAATCAACCAATCAATCAATGAATCAATGAAAATCAACTTTTGGCCAATATCAGAAGAAAACCTCATCAGCTCAGGAGGTAAACAGAGCTGGGCATGGTGGTGTGTGCCTGTAGTTCCAGCTACTAGGGAGGCTGAAGTGGGAGGCTCGCTTAAGCCCAGGAGTTTGAGGCTGCAGTAACCAATGATTGTGCCACTGCATTTCAGCCTGGGCAACA... | GAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACCCTCTCTCAATCAACCAATCAATCAATGAATCAATGAAAATCAACTTTTGGCCAATATCAGAAGAAAACCTCATCAGCTCAGGAGGTAAACAGAGCTGGGCATGGTGGTGTGTGCCTGTAGTTCCAGCTACTAGGGAGGCTGAAGTGGGAGGCTCGCTTAAGCCCAGGAGTTTGAGGCTGCAGTAACCAATGATTGTGCCACTGCATTTCAGCCTGGGCAACA... | pathogenic | 221,238 |
A genetic variant at chromosome 14, position 50294122, affecting gene L2HGDH (L-2-hydroxyglutarate dehydrogenase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['L-2-hydroxyglutaric_aciduria'] | AAATACAAATTCTTTGTAGATAATAAATATAAGAGACATGCCATGCAAGACTTCCATACTGAAAATTAAAATACATTATGTAATAAATTAAAACAGATCCAGACAAAGGGAGGGATATATGAAGTTCAAGGATTGGAAGACTCCACACTACAAAGATGTAAATTGTCTCCACACAGACATACAGATTCATTGCAATCTCAGTCAAAATCATAACAGGTTATCTTGTGGAGTTTAGCAAATTAACTCCAAAATTTATGTAGAAATGTAAAGATCCAAGAGTAGCCAAGATAATGTTGAAGAAAAAAACGGAAGGCCTTACT... | AAATACAAATTCTTTGTAGATAATAAATATAAGAGACATGCCATGCAAGACTTCCATACTGAAAATTAAAATACATTATGTAATAAATTAAAACAGATCCAGACAAAGGGAGGGATATATGAAGTTCAAGGATTGGAAGACTCCACACTACAAAGATGTAAATTGTCTCCACACAGACATACAGATTCATTGCAATCTCAGTCAAAATCATAACAGGTTATCTTGTGGAGTTTAGCAAATTAACTCCAAAATTTATGTAGAAATGTAAAGATCCAAGAGTAGCCAAGATAATGTTGAAGAAAAAAACGGAAGGCCTTACT... | pathogenic | 221,252 |
Variant on chromosome 14, at position 50294250, affecting L2HGDH (L-2-hydroxyglutarate dehydrogenase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AGGATTGGAAGACTCCACACTACAAAGATGTAAATTGTCTCCACACAGACATACAGATTCATTGCAATCTCAGTCAAAATCATAACAGGTTATCTTGTGGAGTTTAGCAAATTAACTCCAAAATTTATGTAGAAATGTAAAGATCCAAGAGTAGCCAAGATAATGTTGAAGAAAAAAACGGAAGGCCTTACTCTACCAGATATTCAGGCCTATTAAAAAGCTACTATAGGGCCAGGCGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCTGGAGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAA... | AGGATTGGAAGACTCCACACTACAAAGATGTAAATTGTCTCCACACAGACATACAGATTCATTGCAATCTCAGTCAAAATCATAACAGGTTATCTTGTGGAGTTTAGCAAATTAACTCCAAAATTTATGTAGAAATGTAAAGATCCAAGAGTAGCCAAGATAATGTTGAAGAAAAAAACGGAAGGCCTTACTCTACCAGATATTCAGGCCTATTAAAAAGCTACTATAGGGCCAGGCGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCTGGAGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAA... | benign | 221,254 |
Variant at chromosome 14, position 50595518, gene ATL1 (atlastin GTPase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GAAGTCAACATGATTTTTCAAAACAAAATTTTCCATATGGCTTGCTGAGATTTAGATTGTTATTATTTTGTCTTGCTTGGAAGAATGAGTTTTTTTGACTAATTGCATAAATTAGGTTCATAAAATAATTTTAATATTCCATCTCCAGAGCAGGTGACTACTGTATTTCTGGAACCATTTTATAATCATTGTTCATTCCTTATTGTCTCTCAAGCTTATTTTACTTCTCTCTCAAGGTCTTACAAATATCATGTAAGCATGTACATAAGAGAGTCCATTTTGTGGTAACTGATATTTTTAAAAGTAGGGAATGATGAAGT... | GAAGTCAACATGATTTTTCAAAACAAAATTTTCCATATGGCTTGCTGAGATTTAGATTGTTATTATTTTGTCTTGCTTGGAAGAATGAGTTTTTTTGACTAATTGCATAAATTAGGTTCATAAAATAATTTTAATATTCCATCTCCAGAGCAGGTGACTACTGTATTTCTGGAACCATTTTATAATCATTGTTCATTCCTTATTGTCTCTCAAGCTTATTTTACTTCTCTCTCAAGGTCTTACAAATATCATGTAAGCATGTACATAAGAGAGTCCATTTTGTGGTAACTGATATTTTTAAAAGTAGGGAATGATGAAGT... | benign | 221,290 |
Evaluate the clinical significance of the mutation at chromosome 14, position 50621831 in gene ATL1 (atlastin GTPase 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CTGCAGTCCAGTTACCACAGCTTACCCAGTTTTGTACAGTTCTTAGAAGGTGGGCACGCTATGCACGGAGCAATTTTTGGATACATTTTCTGGAGGGAATGCATTATAATAAGCCAGTAAAAATCTGGTCTCTTCCCCATTTATGAGCCTATATATATAAAACCACAAACAAGACTTAAAACATGAACTGGTTATGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCCGAGGCGGGAGGATCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCTCCTCTACTAAAAATA... | CTGCAGTCCAGTTACCACAGCTTACCCAGTTTTGTACAGTTCTTAGAAGGTGGGCACGCTATGCACGGAGCAATTTTTGGATACATTTTCTGGAGGGAATGCATTATAATAAGCCAGTAAAAATCTGGTCTCTTCCCCATTTATGAGCCTATATATATAAAACCACAAACAAGACTTAAAACATGAACTGGTTATGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCCGAGGCGGGAGGATCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCTCCTCTACTAAAAATA... | benign | 221,308 |
Benign or pathogenic: chromosome 14, position 50623384, gene ATL1 (atlastin GTPase 1) variant? Disease(s) if pathogenic? | benign | GTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACTGTGGAGGTGCTTACAATTTGGTAGGAGATTCAGGACCTTCACAAGGGTCTGTTCCATAAAGCTTATGACATCAGCAGGGTACAGATTCCTGCGGGTAACTGAAAAGGGCGTTACTCCCGGCAGAGGGGTCTAAGAACATTTTAAAGGGAGTGGCATTGAGTTGAGCCTTTAAGAAGGGCCAGATTGGCAGACAGAGATGTTTGAAAA... | GTCATTTAATATGCTATCATATAGGTTCTGTGTGATCTGTTTACCTTCATGATTGTCAGCAATAAATGCCATGTTATTAATCTAAAATATGAATTTTTACTGCGTGTAACACTGTGGAGGTGCTTACAATTTGGTAGGAGATTCAGGACCTTCACAAGGGTCTGTTCCATAAAGCTTATGACATCAGCAGGGTACAGATTCCTGCGGGTAACTGAAAAGGGCGTTACTCCCGGCAGAGGGGTCTAAGAACATTTTAAAGGGAGTGGCATTGAGTTGAGCCTTTAAGAAGGGCCAGATTGGCAGACAGAGATGTTTGAAAA... | benign | 221,314 |
The mutation impacting ATL1 (atlastin GTPase 1) on chromosome 14 at position 50628125: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_3A'] | AATGACCTTATTCATCAAAGAGCGCTGATGGAGATGTATTTAAGGAAATTAATGTTTTCATGCCTGCTAACACAATATCCATTCTACAGCCCAGGATCAAGGAGTAATTTTGACTTTCAAAAGTTAATAAGAAATACATTTTGTAAGGCTATAGCTGCCATAGATAGTGATTCTTTTGATGGATCTGGGCAAAGTACATTGAAAACCTTCCAGGAGAAATTCACCATTCTGGATGCCATGAAGAGAATCTGTGGTTTATAGGAGGCAAAAATATCAACAAGAATGTGGAAAAAGTTGATACCAACCCTTCTGGATGACTT... | AATGACCTTATTCATCAAAGAGCGCTGATGGAGATGTATTTAAGGAAATTAATGTTTTCATGCCTGCTAACACAATATCCATTCTACAGCCCAGGATCAAGGAGTAATTTTGACTTTCAAAAGTTAATAAGAAATACATTTTGTAAGGCTATAGCTGCCATAGATAGTGATTCTTTTGATGGATCTGGGCAAAGTACATTGAAAACCTTCCAGGAGAAATTCACCATTCTGGATGCCATGAAGAGAATCTGTGGTTTATAGGAGGCAAAAATATCAACAAGAATGTGGAAAAAGTTGATACCAACCCTTCTGGATGACTT... | pathogenic | 221,319 |
Clinical significance of chromosome 14, position 50628216, gene ATL1 (atlastin GTPase 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_3A'] | CAGGATCAAGGAGTAATTTTGACTTTCAAAAGTTAATAAGAAATACATTTTGTAAGGCTATAGCTGCCATAGATAGTGATTCTTTTGATGGATCTGGGCAAAGTACATTGAAAACCTTCCAGGAGAAATTCACCATTCTGGATGCCATGAAGAGAATCTGTGGTTTATAGGAGGCAAAAATATCAACAAGAATGTGGAAAAAGTTGATACCAACCCTTCTGGATGACTTTGAGAGGGGTCCAAGACTTCAGTGGAGGAAGGAAGTGCATGTGTGGTGCAAACAGCAAGAGAACTTAAAAGTGGAGCCTGAAGATGTGACT... | CAGGATCAAGGAGTAATTTTGACTTTCAAAAGTTAATAAGAAATACATTTTGTAAGGCTATAGCTGCCATAGATAGTGATTCTTTTGATGGATCTGGGCAAAGTACATTGAAAACCTTCCAGGAGAAATTCACCATTCTGGATGCCATGAAGAGAATCTGTGGTTTATAGGAGGCAAAAATATCAACAAGAATGTGGAAAAAGTTGATACCAACCCTTCTGGATGACTTTGAGAGGGGTCCAAGACTTCAGTGGAGGAAGGAAGTGCATGTGTGGTGCAAACAGCAAGAGAACTTAAAAGTGGAGCCTGAAGATGTGACT... | pathogenic | 221,327 |
Does the variant impacting ATL1 (atlastin GTPase 1) on chromosome 14, position 50629926, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AGGGGGTGGAAAGATGTGGGCTGACAAAACATATATGCAGGCTCCTGATTATTAACGTATTCTAACAAACTCAACTAGCTAAGTGAAAAATTTTGATACAGTTGCCAATTTTACTCTGCATTGCATAAACAAATACTTCTCTATCTGATACAGATTTGTGGTGGTGACAAACCATTTCTGGCCCCAAATGACTTGCAGACCAAACACCTGCAACTTAAGGAAGAATCTGTGAAGCTATTCCGAGGGGTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAATAGATGAACTTTA... | AGGGGGTGGAAAGATGTGGGCTGACAAAACATATATGCAGGCTCCTGATTATTAACGTATTCTAACAAACTCAACTAGCTAAGTGAAAAATTTTGATACAGTTGCCAATTTTACTCTGCATTGCATAAACAAATACTTCTCTATCTGATACAGATTTGTGGTGGTGACAAACCATTTCTGGCCCCAAATGACTTGCAGACCAAACACCTGCAACTTAAGGAAGAATCTGTGAAGCTATTCCGAGGGGTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAATAGATGAACTTTA... | benign | 221,334 |
Mutation at chromosome 14, position 50629966, within ATL1 (atlastin GTPase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GCTCCTGATTATTAACGTATTCTAACAAACTCAACTAGCTAAGTGAAAAATTTTGATACAGTTGCCAATTTTACTCTGCATTGCATAAACAAATACTTCTCTATCTGATACAGATTTGTGGTGGTGACAAACCATTTCTGGCCCCAAATGACTTGCAGACCAAACACCTGCAACTTAAGGAAGAATCTGTGAAGCTATTCCGAGGGGTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAATAGATGAACTTTACATCCAATATATCAAGCACAATGATAGCAAAAATATCTTC... | GCTCCTGATTATTAACGTATTCTAACAAACTCAACTAGCTAAGTGAAAAATTTTGATACAGTTGCCAATTTTACTCTGCATTGCATAAACAAATACTTCTCTATCTGATACAGATTTGTGGTGGTGACAAACCATTTCTGGCCCCAAATGACTTGCAGACCAAACACCTGCAACTTAAGGAAGAATCTGTGAAGCTATTCCGAGGGGTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAATAGATGAACTTTACATCCAATATATCAAGCACAATGATAGCAAAAATATCTTC... | benign | 221,335 |
A genetic variant at chromosome 14, position 50905380, affecting gene PYGL (glycogen phosphorylase L)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GGAGAAATCTCAATGTATCATTCTTTAACTGAATGCTTTTCTTCTACTTGTCCCTAGTGTTAAATTCCTTTCTTCTCCTCTTCTCATCTTACATGGAGAGGATGACAGGACAGTGCCTTTGGAGTATGGGAAAAAGGTAAACTAAGGGCTCAATGCTGACTGAAATATACTATACTCATTTCACCATTTTTTTCATTCAGCCAAACTTTGATTAGAGCCGAAAGGAGGGTCTCTGACATTATAGGAGATTCTCTACACCCCTAAATAGCCTCTATAGGTTTATAAAATGGGTATCAGCATCCTTGGCTACTTAGCTCAAA... | GGAGAAATCTCAATGTATCATTCTTTAACTGAATGCTTTTCTTCTACTTGTCCCTAGTGTTAAATTCCTTTCTTCTCCTCTTCTCATCTTACATGGAGAGGATGACAGGACAGTGCCTTTGGAGTATGGGAAAAAGGTAAACTAAGGGCTCAATGCTGACTGAAATATACTATACTCATTTCACCATTTTTTTCATTCAGCCAAACTTTGATTAGAGCCGAAAGGAGGGTCTCTGACATTATAGGAGATTCTCTACACCCCTAAATAGCCTCTATAGGTTTATAAAATGGGTATCAGCATCCTTGGCTACTTAGCTCAAA... | benign | 221,407 |
Does the variant impacting PYGL (glycogen phosphorylase L) on chromosome 14, position 50908981, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTAGGATGACAGTAGGAACTACCCTTTTATCTGCCTTGGGAAAGGAGTAGAAAGAAATGTTAGTAAAACCCACCCTGGAGTCTTGGCACAGAGCTAGCCCCCTCCAGTATCCATTCCTCTAGGGTATCTGAAATTCACTAAAAGTCTCTCCTATCAGAGATGATCAACCTTTTTACATATTTACAAAACACAGCTAGAGAGTTGTTTGATAAAGCGTATAACTTTGCATGCAGAGGCTTATTCACATGGCTCTACCCATCCCTTTTTTTTCCCCTCAGTATAGTATTGTCTTCCTTATTCTTCTTTCTTTTTTTAAAAAT... | TTAGGATGACAGTAGGAACTACCCTTTTATCTGCCTTGGGAAAGGAGTAGAAAGAAATGTTAGTAAAACCCACCCTGGAGTCTTGGCACAGAGCTAGCCCCCTCCAGTATCCATTCCTCTAGGGTATCTGAAATTCACTAAAAGTCTCTCCTATCAGAGATGATCAACCTTTTTACATATTTACAAAACACAGCTAGAGAGTTGTTTGATAAAGCGTATAACTTTGCATGCAGAGGCTTATTCACATGGCTCTACCCATCCCTTTTTTTTCCCCTCAGTATAGTATTGTCTTCCTTATTCTTCTTTCTTTTTTTAAAAAT... | benign | 221,416 |
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