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 |
|---|---|---|---|---|---|
Clinical classification of chromosome 11, position 61955084, gene BEST1 (bestrophin 1): benign or pathogenic? Disease(s) if pathogenic? | benign | GAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATC... | GAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATC... | benign | 176,695 |
Considering the variant on chromosome 11, location 61955150, involving gene BEST1 (bestrophin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Retinal_dystrophy'] | AACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAAT... | AACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAAT... | pathogenic | 176,697 |
Is the chromosome 11, position 61955202 variant in BEST1 (bestrophin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Isolated_macular_dystrophy'] | GCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGG... | GCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGG... | pathogenic | 176,705 |
Considering the variant on chromosome 11, location 61955751, involving gene BEST1 (bestrophin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa'] | CCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAAT... | CCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAAT... | pathogenic | 176,716 |
For chromosome 11, position 61955800, gene BEST1 (bestrophin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | TATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACC... | TATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACC... | pathogenic | 176,725 |
A mutation at chromosome position 61955891 on chromosome 11 in gene BEST1 (bestrophin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_bestrophinopathy', 'Vitelliform_macular_dystrophy_2'] | GCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGT... | GCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGT... | pathogenic | 176,731 |
Gene BEST1 (bestrophin 1) variant at chromosome position 61955906 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Vitelliform_macular_dystrophy_2'] | CCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGA... | CCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGA... | pathogenic | 176,735 |
Clinically, how would you classify the variant at chromosome 11, position 61956885, gene BEST1 (bestrophin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Retinal_dystrophy'] | GGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGT... | GGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGT... | pathogenic | 176,743 |
Gene BEST1 (bestrophin 1) variant at chromosome 11, position 61957461—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Vitelliform_macular_dystrophy_2'] | AAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGC... | AAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGC... | pathogenic | 176,766 |
The mutation in gene BEST1 (bestrophin 1) at chromosome 11, position 61958127—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAAT... | GGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAAT... | benign | 176,770 |
Clinically, how would you classify the variant at chromosome 11, position 61958207, gene BEST1 (bestrophin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Retinal_dystrophy'] | TCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACC... | TCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACC... | pathogenic | 176,775 |
Clinical significance of chromosome 11, position 61958208, gene BEST1 (bestrophin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | CCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCC... | CCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCC... | pathogenic | 176,776 |
Variant at chromosome 11, position 61959510, gene BEST1 (bestrophin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Retinal_dystrophy', 'Vitelliform_macular_dystrophy_2'] | CAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCA... | CAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCA... | pathogenic | 176,785 |
Is the variant located on chromosome 11 at position 61959530, gene BEST1 (bestrophin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | GAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAA... | GAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAA... | pathogenic | 176,794 |
Is the chromosome 11, position 61960040 variant in BEST1 (bestrophin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Retinal_dystrophy'] | ACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCA... | ACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCA... | pathogenic | 176,809 |
Gene mutation in BEST1 (bestrophin 1) at chromosome 11, position 61962272—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinal_dystrophy'] | AGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTG... | AGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTG... | pathogenic | 176,813 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 61962568, gene BEST1 (bestrophin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_dominant_vitreoretinochoroidopathy', 'Autosomal_recessive_bestrophinopathy', 'Retinitis_pigmentosa_50', 'Vitelliform_macular_dystrophy_2'] | ACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCC... | ACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCC... | pathogenic | 176,818 |
Variant in gene BEST1 (bestrophin 1), located at chromosome 11 position 61962597: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_dominant_vitreoretinochoroidopathy', 'Vitelliform_macular_dystrophy_2'] | TTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCT... | TTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCT... | pathogenic | 176,819 |
Clinically, how would you classify the variant at chromosome 11, position 61962621, gene BEST1 (bestrophin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_bestrophinopathy', 'BEST1-related_disorder', 'Retinal_dystrophy', 'Vitelliform_macular_dystrophy_2'] | GTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCT... | GTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCT... | pathogenic | 176,820 |
Clinical significance of chromosome 11, position 61962665, gene BEST1 (bestrophin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_bestrophinopathy', 'Retinal_dystrophy'] | TTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTG... | TTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTG... | pathogenic | 176,822 |
Does the chromosome 11 mutation at position 61962717 within gene BEST1 (bestrophin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Stargardt_disease'] | AAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCA... | AAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCA... | pathogenic | 176,826 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 62614650, gene ROM1 (retinal outer segment membrane protein 1). What disease(s) is it linked to if pathogenic? | benign | CGGGGAAGGGGCCTGGAGGGGGCGCTGTGGGCCCGGGGCCGCAGTCTCCAGACCCCCCCGGGCCCTCGGACTCTCCCGGGGCCGCTCTCGGCTCCCGGGGGTGGGGTGGCAGGGCCGTCCGGTGCCACAGCGCCGCAGCACAAACAGGCGCCGGACGCGGAGCCGCCAGGAAGCGCGGGAGGGGGGGCGGGCCCGAGGGGGGGCCGGGCCGCTTGGTAACCCCTCCCTGTCCGGGCCTCGCCGCTCAGTACGGGGGCGGGGCTAGCCGGCTGACCCCCTGGCCTACTCCCGGCCTCCGGCTCCAGGCCCTTCCCGGATCC... | CGGGGAAGGGGCCTGGAGGGGGCGCTGTGGGCCCGGGGCCGCAGTCTCCAGACCCCCCCGGGCCCTCGGACTCTCCCGGGGCCGCTCTCGGCTCCCGGGGGTGGGGTGGCAGGGCCGTCCGGTGCCACAGCGCCGCAGCACAAACAGGCGCCGGACGCGGAGCCGCCAGGAAGCGCGGGAGGGGGGGCGGGCCCGAGGGGGGGCCGGGCCGCTTGGTAACCCCTCCCTGTCCGGGCCTCGCCGCTCAGTACGGGGGCGGGGCTAGCCGGCTGACCCCCTGGCCTACTCCCGGCCTCCGGCTCCAGGCCCTTCCCGGATCC... | benign | 176,966 |
Variant at chromosome position 62616242, chromosome 11, gene B3GAT3 (beta-1,3-glucuronyltransferase 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CTTCAGTCCCTCCCCCAGGCCTCTATCTCCAGACATCCTAACCCCTCTGTCCCTCCCTTTGCAGCCGGATCCAGAGCAATGTAGAAGGCCTATACCTGACTGATGGGGTCCCTTTCTCCTGTTGCAACCCCCACTCACCCCGGCCTTGCCTGCAAAACCGTCTTTCAGACTCCTACGCCCACCCCCTGTTCGATCCCCGACAACCCAACCAAAACCTCTGGGCCCAAGGGTGCCATGAGGTGCTGCTGGAGCACTTGCAGGACTTGGCAGGCACACTGGGTAGCATGCTGGCTGTCACCTTCCTACTGCAGGTGAGTCAG... | CTTCAGTCCCTCCCCCAGGCCTCTATCTCCAGACATCCTAACCCCTCTGTCCCTCCCTTTGCAGCCGGATCCAGAGCAATGTAGAAGGCCTATACCTGACTGATGGGGTCCCTTTCTCCTGTTGCAACCCCCACTCACCCCGGCCTTGCCTGCAAAACCGTCTTTCAGACTCCTACGCCCACCCCCTGTTCGATCCCCGACAACCCAACCAAAACCTCTGGGCCCAAGGGTGCCATGAGGTGCTGCTGGAGCACTTGCAGGACTTGGCAGGCACACTGGGTAGCATGCTGGCTGTCACCTTCCTACTGCAGGTGAGTCAG... | benign | 176,969 |
A genetic alteration at chromosome 11, position 62617088, in gene B3GAT3 (beta-1,3-glucuronyltransferase 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Larsen-like_syndrome,_B3GAT3_type'] | ACAGAGTGATGGGAAAGTGACATGAGAAGGCCTGGAGGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTC... | ACAGAGTGATGGGAAAGTGACATGAGAAGGCCTGGAGGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTC... | pathogenic | 176,981 |
Mutation at chromosome 11, position 62629280, within GANAB (glucosidase II alpha subunit): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Polycystic_kidney_disease_3_with_or_without_polycystic_liver_disease'] | ATCCGCAGTGCTGCTTGGCCCAAAGCCAACCCACCACCAACTATCCTCATTTCTCACCAAGCAAGTACTGATCATCTATATTGAAGGTAGTCACATCCTGAGGGTACTGCACCCACAGGGGCCTAGGAAGGAAGAAAGACAATAAAGGAAAACTTTTCAATTTTGGCACAAGTCAGAAATGCTCCTCCAGGAACTGGCAATAAGAAAAGAACAGCATAGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGAAGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGAACAACATGG... | ATCCGCAGTGCTGCTTGGCCCAAAGCCAACCCACCACCAACTATCCTCATTTCTCACCAAGCAAGTACTGATCATCTATATTGAAGGTAGTCACATCCTGAGGGTACTGCACCCACAGGGGCCTAGGAAGGAAGAAAGACAATAAAGGAAAACTTTTCAATTTTGGCACAAGTCAGAAATGCTCCTCCAGGAACTGGCAATAAGAAAAGAACAGCATAGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGAAGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGAACAACATGG... | pathogenic | 177,003 |
Does the chromosome 11 mutation at position 62639457 within gene GANAB (glucosidase II alpha subunit) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['GANAB-related_disorder', 'POLYCYSTIC_KIDNEY_DISEASE_3_WITH_POLYCYSTIC_LIVER_DISEASE', 'Polycystic_kidney_disease_3_with_or_without_polycystic_liver_disease'] | GAGGGCTTCTTATAAATCACTGGTGGAAGTGTAAATTGGTAAACCACTTTGGCTTTATCTTGCGAAGCTGATCATCTCCATATTCTACAATCCTGCAATTCCTCTCCTAGTTATACACCAAAGAGAAACTCCCAAGCAAGGATAACAGGAGACATGTACAAGAAGGTTCGTAGCAACACTTTGGCTAGCAAAACACTGGAAACAACCCCAAGGCTTATCAACCTAAAAATGGATTAATCAGTTGGGGTATATTCATACAACATAATAATATGCAGCAGTAAAAATGAATGAACTAGAGCTATATGAAATGGAATTAAATA... | GAGGGCTTCTTATAAATCACTGGTGGAAGTGTAAATTGGTAAACCACTTTGGCTTTATCTTGCGAAGCTGATCATCTCCATATTCTACAATCCTGCAATTCCTCTCCTAGTTATACACCAAAGAGAAACTCCCAAGCAAGGATAACAGGAGACATGTACAAGAAGGTTCGTAGCAACACTTTGGCTAGCAAAACACTGGAAACAACCCCAAGGCTTATCAACCTAAAAATGGATTAATCAGTTGGGGTATATTCATACAACATAATAATATGCAGCAGTAAAAATGAATGAACTAGAGCTATATGAAATGGAATTAAATA... | pathogenic | 177,033 |
Does the variant on chromosome 11 at location 62690369 affecting gene BSCL2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Congenital_generalized_lipodystrophy_type_2', 'Hereditary_spastic_paraplegia_17', 'Neuronopathy,_distal_hereditary_motor,_type_5C', 'Severe_neurodegenerative_syndrome_with_lipodystrophy'] | AGCTCCTTGCAGGGCACCTGCAGGTGTCGGCAGTGGTCGTAGTCGCAGGGGACAGCCGGCAAAGGCGGCCACGCCGTCTCAGTCTCATCTGCCTCCTCTTCTTCAAAGTCTTGAGGGGCCAAGGGCTGAGCTCTGGGAACCAAGAAGGTCACGGCCAGGAGCCACAGAAGGCAGGGAGAGCCCAGCATGGAGACTGGAAGGGAAGGGGTGGATAGATAAAGCCTGTTCAGCCCAAAAGCCTGCCATGCCCTCTGCCTGGACACAATCTCTGGAGACAGGAAAATGCAACTGGGGATCAGAAGAGGAAAGAAGTTGGAATG... | AGCTCCTTGCAGGGCACCTGCAGGTGTCGGCAGTGGTCGTAGTCGCAGGGGACAGCCGGCAAAGGCGGCCACGCCGTCTCAGTCTCATCTGCCTCCTCTTCTTCAAAGTCTTGAGGGGCCAAGGGCTGAGCTCTGGGAACCAAGAAGGTCACGGCCAGGAGCCACAGAAGGCAGGGAGAGCCCAGCATGGAGACTGGAAGGGAAGGGGTGGATAGATAAAGCCTGTTCAGCCCAAAAGCCTGCCATGCCCTCTGCCTGGACACAATCTCTGGAGACAGGAAAATGCAACTGGGGATCAGAAGAGGAAAGAAGTTGGAATG... | pathogenic | 177,050 |
Variant at chromosome position 62691310, chromosome 11, gene BSCL2: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['BSCL2-related_disorder', 'Berardinelli-Seip_congenital_lipodystrophy', 'Charcot-Marie-Tooth_disease_type_2', 'Congenital_generalized_lipodystrophy_type_2', 'Hereditary_spastic_paraplegia_17', 'Neuronopathy,_distal_hereditary_motor,_type_5C', 'Severe_neurodegenerative_syndrome_with_lipodystrophy'] | GAATGGAGAAATATTGTAAGCACAGCTGTATTTTTTGAAAACAAGAGAAAAAAATAGGGACGCTGGAATCCTCCCTCCCCACCTGCTATCTGTGCAAATCCTGTCCAAGGAGTCCTGGCCCCTGCATGCCTCCCTCCTCCTCTCTGGCCCATAGCAGCTCCTCACCAGTGGGTAGGCCTTGATGCAGCGGGAATCCACCAGCTGACGTCTGTGGGTGTTAGGCTGAGGGATCCCCAAGATCTCAGGCTGTGCTGTCAGGTTGTATCTTCAACTTCAATGCCGTTTGGCTGGAAGCTTTTATAACCTTCGACTGTGATGTC... | GAATGGAGAAATATTGTAAGCACAGCTGTATTTTTTGAAAACAAGAGAAAAAAATAGGGACGCTGGAATCCTCCCTCCCCACCTGCTATCTGTGCAAATCCTGTCCAAGGAGTCCTGGCCCCTGCATGCCTCCCTCCTCCTCTCTGGCCCATAGCAGCTCCTCACCAGTGGGTAGGCCTTGATGCAGCGGGAATCCACCAGCTGACGTCTGTGGGTGTTAGGCTGAGGGATCCCCAAGATCTCAGGCTGTGCTGTCAGGTTGTATCTTCAACTTCAATGCCGTTTGGCTGGAAGCTTTTATAACCTTCGACTGTGATGTC... | pathogenic | 177,065 |
Is the variant located on chromosome 11 at position 62691342, gene BSCL2, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Congenital_generalized_lipodystrophy_type_2'] | TTTTGAAAACAAGAGAAAAAAATAGGGACGCTGGAATCCTCCCTCCCCACCTGCTATCTGTGCAAATCCTGTCCAAGGAGTCCTGGCCCCTGCATGCCTCCCTCCTCCTCTCTGGCCCATAGCAGCTCCTCACCAGTGGGTAGGCCTTGATGCAGCGGGAATCCACCAGCTGACGTCTGTGGGTGTTAGGCTGAGGGATCCCCAAGATCTCAGGCTGTGCTGTCAGGTTGTATCTTCAACTTCAATGCCGTTTGGCTGGAAGCTTTTATAACCTTCGACTGTGATGTCACCACCTAGCTCCCCTCCTCCTCCCCCCACCT... | TTTTGAAAACAAGAGAAAAAAATAGGGACGCTGGAATCCTCCCTCCCCACCTGCTATCTGTGCAAATCCTGTCCAAGGAGTCCTGGCCCCTGCATGCCTCCCTCCTCCTCTCTGGCCCATAGCAGCTCCTCACCAGTGGGTAGGCCTTGATGCAGCGGGAATCCACCAGCTGACGTCTGTGGGTGTTAGGCTGAGGGATCCCCAAGATCTCAGGCTGTGCTGTCAGGTTGTATCTTCAACTTCAATGCCGTTTGGCTGGAAGCTTTTATAACCTTCGACTGTGATGTCACCACCTAGCTCCCCTCCTCCTCCCCCCACCT... | pathogenic | 177,066 |
Regarding the variant at chromosome 11 and position 62692384, affecting gene BSCL2: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Berardinelli-Seip_congenital_lipodystrophy', 'Congenital_generalized_lipodystrophy_type_2', 'Lipodystrophy'] | TGCTGGAATGTGAGGAGTCTGCCCCTTTTCTTCAGGAACTAGAGCAGGTGGGGCGCTGTCGGAGAGCACCCCCAGCAGGTTCAGAGCTGCCCAGAGTCTCTAGGACAGGGGCAGAAGCAGAAGCAGGAGCAGGAGCAGGCAGGTTGGCCTCCGTCAGCAAAGCTGCATCTTCCCAGGAGCCTGAACCTGGGCCAGGAAAGGGAAAAACAAAATCTCAAATGGGATATTAGATTAACCGGGGGCCCCACCCAGGTCACGCTGCAGGATGCCCCTCACCATCACTGGCCTCAGGCTCTAGCTCCTCTTCTCCGCTCAGGGGC... | TGCTGGAATGTGAGGAGTCTGCCCCTTTTCTTCAGGAACTAGAGCAGGTGGGGCGCTGTCGGAGAGCACCCCCAGCAGGTTCAGAGCTGCCCAGAGTCTCTAGGACAGGGGCAGAAGCAGAAGCAGGAGCAGGAGCAGGCAGGTTGGCCTCCGTCAGCAAAGCTGCATCTTCCCAGGAGCCTGAACCTGGGCCAGGAAAGGGAAAAACAAAATCTCAAATGGGATATTAGATTAACCGGGGGCCCCACCCAGGTCACGCTGCAGGATGCCCCTCACCATCACTGGCCTCAGGCTCTAGCTCCTCTTCTCCGCTCAGGGGC... | pathogenic | 177,071 |
Is the chromosome 11, position 62692413 variant in BSCL2 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Congenital_generalized_lipodystrophy_type_2', 'Hereditary_spastic_paraplegia_17', 'Lipodystrophy', 'Neuronopathy,_distal_hereditary_motor,_type_5C', 'Severe_neurodegenerative_syndrome_with_lipodystrophy'] | CTTCAGGAACTAGAGCAGGTGGGGCGCTGTCGGAGAGCACCCCCAGCAGGTTCAGAGCTGCCCAGAGTCTCTAGGACAGGGGCAGAAGCAGAAGCAGGAGCAGGAGCAGGCAGGTTGGCCTCCGTCAGCAAAGCTGCATCTTCCCAGGAGCCTGAACCTGGGCCAGGAAAGGGAAAAACAAAATCTCAAATGGGATATTAGATTAACCGGGGGCCCCACCCAGGTCACGCTGCAGGATGCCCCTCACCATCACTGGCCTCAGGCTCTAGCTCCTCTTCTCCGCTCAGGGGCTGCTGATCTGGTTTCTCCTCCTCGGACAG... | CTTCAGGAACTAGAGCAGGTGGGGCGCTGTCGGAGAGCACCCCCAGCAGGTTCAGAGCTGCCCAGAGTCTCTAGGACAGGGGCAGAAGCAGAAGCAGGAGCAGGAGCAGGCAGGTTGGCCTCCGTCAGCAAAGCTGCATCTTCCCAGGAGCCTGAACCTGGGCCAGGAAAGGGAAAAACAAAATCTCAAATGGGATATTAGATTAACCGGGGGCCCCACCCAGGTCACGCTGCAGGATGCCCCTCACCATCACTGGCCTCAGGCTCTAGCTCCTCTTCTCCGCTCAGGGGCTGCTGATCTGGTTTCTCCTCCTCGGACAG... | pathogenic | 177,072 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 62694680, gene BSCL2: what disease(s) if pathogenic? | pathogenic; ['Berardinelli-Seip_congenital_lipodystrophy', 'Charcot-Marie-Tooth_disease_type_2', 'Congenital_generalized_lipodystrophy_type_2', 'Hereditary_spastic_paraplegia_17', 'Neuronopathy,_distal_hereditary_motor,_type_5C', 'Severe_neurodegenerative_syndrome_with_lipodystrophy'] | CCTAGTCATAAAGCTCGTTCACCTCACTCACCGAGTTCTCTCTATAGTCTGCGTAGAGTTCCACCTCCAGCAGCTGCTTCTGCTCTGCAAAGCCAAATAGCAGGAGGCTAGAGAAGACCAGTGTGTCCAGCATCTGGAGCAGGTCTGAGCGGTAATGCAGCATCACCTGCCGGGGGTGGGAAGCAGAGGCTGGGGACAGGTGCATGCCAGATCCCCATGACCCTACCTACCCCTCAACCACCCCTGAGTAGTCTATGAAGGCGGCTTCTTCCTCAGGTCCCTGGCTGCCTCACCTTCACTTCCTACCCCTCAGTCTCATC... | CCTAGTCATAAAGCTCGTTCACCTCACTCACCGAGTTCTCTCTATAGTCTGCGTAGAGTTCCACCTCCAGCAGCTGCTTCTGCTCTGCAAAGCCAAATAGCAGGAGGCTAGAGAAGACCAGTGTGTCCAGCATCTGGAGCAGGTCTGAGCGGTAATGCAGCATCACCTGCCGGGGGTGGGAAGCAGAGGCTGGGGACAGGTGCATGCCAGATCCCCATGACCCTACCTACCCCTCAACCACCCCTGAGTAGTCTATGAAGGCGGCTTCTTCCTCAGGTCCCTGGCTGCCTCACCTTCACTTCCTACCCCTCAGTCTCATC... | pathogenic | 177,088 |
The mutation in gene BSCL2 at chromosome 11, position 62694684—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Berardinelli-Seip_congenital_lipodystrophy', 'Charcot-Marie-Tooth_disease_type_2', 'Congenital_generalized_lipodystrophy_type_2', 'Severe_neurodegenerative_syndrome_with_lipodystrophy'] | GTCATAAAGCTCGTTCACCTCACTCACCGAGTTCTCTCTATAGTCTGCGTAGAGTTCCACCTCCAGCAGCTGCTTCTGCTCTGCAAAGCCAAATAGCAGGAGGCTAGAGAAGACCAGTGTGTCCAGCATCTGGAGCAGGTCTGAGCGGTAATGCAGCATCACCTGCCGGGGGTGGGAAGCAGAGGCTGGGGACAGGTGCATGCCAGATCCCCATGACCCTACCTACCCCTCAACCACCCCTGAGTAGTCTATGAAGGCGGCTTCTTCCTCAGGTCCCTGGCTGCCTCACCTTCACTTCCTACCCCTCAGTCTCATCCAAC... | GTCATAAAGCTCGTTCACCTCACTCACCGAGTTCTCTCTATAGTCTGCGTAGAGTTCCACCTCCAGCAGCTGCTTCTGCTCTGCAAAGCCAAATAGCAGGAGGCTAGAGAAGACCAGTGTGTCCAGCATCTGGAGCAGGTCTGAGCGGTAATGCAGCATCACCTGCCGGGGGTGGGAAGCAGAGGCTGGGGACAGGTGCATGCCAGATCCCCATGACCCTACCTACCCCTCAACCACCCCTGAGTAGTCTATGAAGGCGGCTTCTTCCTCAGGTCCCTGGCTGCCTCACCTTCACTTCCTACCCCTCAGTCTCATCCAAC... | pathogenic | 177,089 |
Regarding the variant found on chromosome 11 at position 62702561 in gene BSCL2: is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTA... | CGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTA... | benign | 177,103 |
Evaluate the clinical significance of the mutation at chromosome 11, position 63631023 in gene ATL3 (atlastin GTPase 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATCTTAAAAGGCACTAAGTGGCACATAAAGAACTTAAAAGCTGCATTTCCATTTTTCCTCTAGCTTCCTCCTCCATAAAGTGCACAAAGCAGAGTAATATGAAAATAGACACAGGCTTGCATCTATAACAGCAAGGAAAAGAAATGCTTCCAAGAGAAATGGAAGTGTGTTTAATAATTTGAAACCACAGGAGAGGTCTGCTCATTTATTACAGGGCCATGTTTTAGCTCTTCCTGGATCGTCTCAGATCTGCCATTCCTCTGGATATGAACCTGTGGCCGTGGCAGAAACCCAGAAATCAGTAGGGGCTTGTTGTGTTC... | ATCTTAAAAGGCACTAAGTGGCACATAAAGAACTTAAAAGCTGCATTTCCATTTTTCCTCTAGCTTCCTCCTCCATAAAGTGCACAAAGCAGAGTAATATGAAAATAGACACAGGCTTGCATCTATAACAGCAAGGAAAAGAAATGCTTCCAAGAGAAATGGAAGTGTGTTTAATAATTTGAAACCACAGGAGAGGTCTGCTCATTTATTACAGGGCCATGTTTTAGCTCTTCCTGGATCGTCTCAGATCTGCCATTCCTCTGGATATGAACCTGTGGCCGTGGCAGAAACCCAGAAATCAGTAGGGGCTTGTTGTGTTC... | benign | 177,139 |
A mutation at chromosome position 63636199 on chromosome 11 in gene ATL3 (atlastin GTPase 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AGCCTGCTCAACACAGCTAGATCCTGTTTCTATTTAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAAGGGGGCTGGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGATCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAGAAATTAGCCGGGCGTGGTGGCAGGCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTG... | AGCCTGCTCAACACAGCTAGATCCTGTTTCTATTTAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAAGGGGGCTGGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGATCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAGAAATTAGCCGGGCGTGGTGGCAGGCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTG... | benign | 177,147 |
Classify the chromosome 11 variant at position 63646490 affecting gene ATL3 (atlastin GTPase 3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGCAGTGGCATGATCATAGCTCACTGTAGCCTAGAATTCCTGGGCTCAAGTGATCCTTTCACCTCAGCCTCCCAAGTAGCCGGGACTACAAGCACATGCCACTACTCCTGGCTTATTTTTTAATTTTTTTATATAGACAAGGTCTTGCTCTGTTGCCCAGGCTGGTCTTGAACTCTAGGCCTCAAGCAATCCTGTGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCAGATTTATCTATTCTGTAATGTCTTAGAAGTTTTACAAACACTGGAGGGACATGTTTAAGCCAAATATGAG... | TGCAGTGGCATGATCATAGCTCACTGTAGCCTAGAATTCCTGGGCTCAAGTGATCCTTTCACCTCAGCCTCCCAAGTAGCCGGGACTACAAGCACATGCCACTACTCCTGGCTTATTTTTTAATTTTTTTATATAGACAAGGTCTTGCTCTGTTGCCCAGGCTGGTCTTGAACTCTAGGCCTCAAGCAATCCTGTGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCAGATTTATCTATTCTGTAATGTCTTAGAAGTTTTACAAACACTGGAGGGACATGTTTAAGCCAAATATGAG... | benign | 177,152 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 64298255, gene KCNK4. What disease(s) is it linked to if pathogenic? | benign | GGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAG... | GGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAG... | benign | 177,243 |
Does the variant on chromosome 11 at location 64730116 affecting gene RASGRP2 (RAS guanyl releasing protein 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Abnormal_platelet_aggregation', 'Platelet-type_bleeding_disorder_18', 'RASGRP2-related_disorder'] | CAGTTTAACATAGTTGTTCGGACTGTTCTCAGCAAAATAATCATTTGGCCAGTTGTCATTCAGCAAACTGACCTAAAACCATCAAATACCCCAAGAGAGCTGCCAGGACATTATCAGGGCAAGGGACTTTCCCCAGAAGAGCCTCCAGAGCAGCCAGAAAGGGAAAGGCAAGCCAATGGCTCATATAACACCTTCTCCAATCCTTTGTTAACCCCTCCAACAAAATAAGACTGTAACTGGAATCTTGAAGCCTCTTTCACTTTTATACCTCTTTATAAATTAGGGTCTCTCTCCTCAGCCTCAGAAGGTCCAGGGCTTCC... | CAGTTTAACATAGTTGTTCGGACTGTTCTCAGCAAAATAATCATTTGGCCAGTTGTCATTCAGCAAACTGACCTAAAACCATCAAATACCCCAAGAGAGCTGCCAGGACATTATCAGGGCAAGGGACTTTCCCCAGAAGAGCCTCCAGAGCAGCCAGAAAGGGAAAGGCAAGCCAATGGCTCATATAACACCTTCTCCAATCCTTTGTTAACCCCTCCAACAAAATAAGACTGTAACTGGAATCTTGAAGCCTCTTTCACTTTTATACCTCTTTATAAATTAGGGTCTCTCTCCTCAGCCTCAGAAGGTCCAGGGCTTCC... | pathogenic | 177,328 |
Is the genetic variant on chromosome 11, position 64730127, gene RASGRP2 (RAS guanyl releasing protein 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Platelet-type_bleeding_disorder_18'] | AGTTGTTCGGACTGTTCTCAGCAAAATAATCATTTGGCCAGTTGTCATTCAGCAAACTGACCTAAAACCATCAAATACCCCAAGAGAGCTGCCAGGACATTATCAGGGCAAGGGACTTTCCCCAGAAGAGCCTCCAGAGCAGCCAGAAAGGGAAAGGCAAGCCAATGGCTCATATAACACCTTCTCCAATCCTTTGTTAACCCCTCCAACAAAATAAGACTGTAACTGGAATCTTGAAGCCTCTTTCACTTTTATACCTCTTTATAAATTAGGGTCTCTCTCCTCAGCCTCAGAAGGTCCAGGGCTTCCTGGCCACTTTC... | AGTTGTTCGGACTGTTCTCAGCAAAATAATCATTTGGCCAGTTGTCATTCAGCAAACTGACCTAAAACCATCAAATACCCCAAGAGAGCTGCCAGGACATTATCAGGGCAAGGGACTTTCCCCAGAAGAGCCTCCAGAGCAGCCAGAAAGGGAAAGGCAAGCCAATGGCTCATATAACACCTTCTCCAATCCTTTGTTAACCCCTCCAACAAAATAAGACTGTAACTGGAATCTTGAAGCCTCTTTCACTTTTATACCTCTTTATAAATTAGGGTCTCTCTCCTCAGCCTCAGAAGGTCCAGGGCTTCCTGGCCACTTTC... | pathogenic | 177,329 |
Mutation found at chromosome 11 position 64746801, gene PYGM (glycogen phosphorylase, muscle associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Glycogen_storage_disease,_type_V'] | GCCGCAAGGAGCCCGCACCGGCCTGGCCGACCCCACCTCCGTGCGCTCCCGCCCGCCGGCCTCGCTGCGGCTGCGGCTCCCGCCCGCTCTCCACGCCGCGGCCCCGCTCCCCGCCGCCCCGCCCCCGCCCCCGCGCCAGGCTGCCCCCTCCCCCCTCCGCCCCTGCGCGGAGCTCCGCACCGCCGGCTGCGCCACCCCCACCGGGGGCTCCCTCTCGCCCCGCACGCGGCGGTCCCTGCGGCAGCTTAACCCCTCCCCTGCCGCGCCGCCCGGGAGGCCAGGGCCGCGGGCGGGGGGCTGCGCCACTAGCTGCCCCGAGG... | GCCGCAAGGAGCCCGCACCGGCCTGGCCGACCCCACCTCCGTGCGCTCCCGCCCGCCGGCCTCGCTGCGGCTGCGGCTCCCGCCCGCTCTCCACGCCGCGGCCCCGCTCCCCGCCGCCCCGCCCCCGCCCCCGCGCCAGGCTGCCCCCTCCCCCCTCCGCCCCTGCGCGGAGCTCCGCACCGCCGGCTGCGCCACCCCCACCGGGGGCTCCCTCTCGCCCCGCACGCGGCGGTCCCTGCGGCAGCTTAACCCCTCCCCTGCCGCGCCGCCCGGGAGGCCAGGGCCGCGGGCGGGGGGCTGCGCCACTAGCTGCCCCGAGG... | pathogenic | 177,351 |
Variant in PYGM (glycogen phosphorylase, muscle associated), chromosome 11, position 64746918—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glycogen_storage_disease,_type_V'] | CCCGCCCCCGCCCCCGCGCCAGGCTGCCCCCTCCCCCCTCCGCCCCTGCGCGGAGCTCCGCACCGCCGGCTGCGCCACCCCCACCGGGGGCTCCCTCTCGCCCCGCACGCGGCGGTCCCTGCGGCAGCTTAACCCCTCCCCTGCCGCGCCGCCCGGGAGGCCAGGGCCGCGGGCGGGGGGCTGCGCCACTAGCTGCCCCGAGGGCGGGCGACCGGAGGCCCCGCCGCCCGGGACGCGGAGGGGGGACCGAAACGAAGAGCCCCTCCCCCAACCGCGGACGCCCCAGTGCCCCCCGCCCTGCCTGGGTGTCGGGCGGAGGA... | CCCGCCCCCGCCCCCGCGCCAGGCTGCCCCCTCCCCCCTCCGCCCCTGCGCGGAGCTCCGCACCGCCGGCTGCGCCACCCCCACCGGGGGCTCCCTCTCGCCCCGCACGCGGCGGTCCCTGCGGCAGCTTAACCCCTCCCCTGCCGCGCCGCCCGGGAGGCCAGGGCCGCGGGCGGGGGGCTGCGCCACTAGCTGCCCCGAGGGCGGGCGACCGGAGGCCCCGCCGCCCGGGACGCGGAGGGGGGACCGAAACGAAGAGCCCCTCCCCCAACCGCGGACGCCCCAGTGCCCCCCGCCCTGCCTGGGTGTCGGGCGGAGGA... | pathogenic | 177,354 |
Determine whether the variant at chromosome 11, position 64746933, in gene PYGM (glycogen phosphorylase, muscle associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Glycogen_storage_disease,_type_V'] | GCGCCAGGCTGCCCCCTCCCCCCTCCGCCCCTGCGCGGAGCTCCGCACCGCCGGCTGCGCCACCCCCACCGGGGGCTCCCTCTCGCCCCGCACGCGGCGGTCCCTGCGGCAGCTTAACCCCTCCCCTGCCGCGCCGCCCGGGAGGCCAGGGCCGCGGGCGGGGGGCTGCGCCACTAGCTGCCCCGAGGGCGGGCGACCGGAGGCCCCGCCGCCCGGGACGCGGAGGGGGGACCGAAACGAAGAGCCCCTCCCCCAACCGCGGACGCCCCAGTGCCCCCCGCCCTGCCTGGGTGTCGGGCGGAGGAAGCCGGGAGGGGCAG... | GCGCCAGGCTGCCCCCTCCCCCCTCCGCCCCTGCGCGGAGCTCCGCACCGCCGGCTGCGCCACCCCCACCGGGGGCTCCCTCTCGCCCCGCACGCGGCGGTCCCTGCGGCAGCTTAACCCCTCCCCTGCCGCGCCGCCCGGGAGGCCAGGGCCGCGGGCGGGGGGCTGCGCCACTAGCTGCCCCGAGGGCGGGCGACCGGAGGCCCCGCCGCCCGGGACGCGGAGGGGGGACCGAAACGAAGAGCCCCTCCCCCAACCGCGGACGCCCCAGTGCCCCCCGCCCTGCCTGGGTGTCGGGCGGAGGAAGCCGGGAGGGGCAG... | pathogenic | 177,355 |
Located at chromosome 11 position 64746980, the variant affecting gene PYGM (glycogen phosphorylase, muscle associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glycogen_storage_disease,_type_V'] | CCGCCGGCTGCGCCACCCCCACCGGGGGCTCCCTCTCGCCCCGCACGCGGCGGTCCCTGCGGCAGCTTAACCCCTCCCCTGCCGCGCCGCCCGGGAGGCCAGGGCCGCGGGCGGGGGGCTGCGCCACTAGCTGCCCCGAGGGCGGGCGACCGGAGGCCCCGCCGCCCGGGACGCGGAGGGGGGACCGAAACGAAGAGCCCCTCCCCCAACCGCGGACGCCCCAGTGCCCCCCGCCCTGCCTGGGTGTCGGGCGGAGGAAGCCGGGAGGGGCAGGAAGCGGACTGCGGTGGGGAAGGGGCGCCCCGCCCAGCCCCCAGCTC... | CCGCCGGCTGCGCCACCCCCACCGGGGGCTCCCTCTCGCCCCGCACGCGGCGGTCCCTGCGGCAGCTTAACCCCTCCCCTGCCGCGCCGCCCGGGAGGCCAGGGCCGCGGGCGGGGGGCTGCGCCACTAGCTGCCCCGAGGGCGGGCGACCGGAGGCCCCGCCGCCCGGGACGCGGAGGGGGGACCGAAACGAAGAGCCCCTCCCCCAACCGCGGACGCCCCAGTGCCCCCCGCCCTGCCTGGGTGTCGGGCGGAGGAAGCCGGGAGGGGCAGGAAGCGGACTGCGGTGGGGAAGGGGCGCCCCGCCCAGCCCCCAGCTC... | pathogenic | 177,357 |
Regarding the variant at chromosome 11 and position 64747173, affecting gene PYGM (glycogen phosphorylase, muscle associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGAGCCCCTCCCCCAACCGCGGACGCCCCAGTGCCCCCCGCCCTGCCTGGGTGTCGGGCGGAGGAAGCCGGGAGGGGCAGGAAGCGGACTGCGGTGGGGAAGGGGCGCCCCGCCCAGCCCCCAGCTCGGGTTCCTGTTTTCGAGACAAACCGTTCCCATGGGGCTAACCCGGCCCGGGACCGGGCGTCTTCCTGCAGGCAGCGGGTGGCACAGGCCTAGTGGAGGTCGGGGGCGTGGGGACAGCTGGTCCTTGAGATAGTCTGGGGGATGGGCTAGGACAAGATGGGAATATTTTGGGGAGAGGGACCTGTGGGGAGCGA... | AGAGCCCCTCCCCCAACCGCGGACGCCCCAGTGCCCCCCGCCCTGCCTGGGTGTCGGGCGGAGGAAGCCGGGAGGGGCAGGAAGCGGACTGCGGTGGGGAAGGGGCGCCCCGCCCAGCCCCCAGCTCGGGTTCCTGTTTTCGAGACAAACCGTTCCCATGGGGCTAACCCGGCCCGGGACCGGGCGTCTTCCTGCAGGCAGCGGGTGGCACAGGCCTAGTGGAGGTCGGGGGCGTGGGGACAGCTGGTCCTTGAGATAGTCTGGGGGATGGGCTAGGACAAGATGGGAATATTTTGGGGAGAGGGACCTGTGGGGAGCGA... | benign | 177,359 |
Clinical classification of chromosome 11, position 64747253, gene PYGM (glycogen phosphorylase, muscle associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_V'] | GAAGCGGACTGCGGTGGGGAAGGGGCGCCCCGCCCAGCCCCCAGCTCGGGTTCCTGTTTTCGAGACAAACCGTTCCCATGGGGCTAACCCGGCCCGGGACCGGGCGTCTTCCTGCAGGCAGCGGGTGGCACAGGCCTAGTGGAGGTCGGGGGCGTGGGGACAGCTGGTCCTTGAGATAGTCTGGGGGATGGGCTAGGACAAGATGGGAATATTTTGGGGAGAGGGACCTGTGGGGAGCGAGGAATGAAATCGTGGCTATCTGGAGACGCGGCCTTGATGTCTGGGAATGGGGGCGGGGGGCCCAGTTCACACAGGAGGAA... | GAAGCGGACTGCGGTGGGGAAGGGGCGCCCCGCCCAGCCCCCAGCTCGGGTTCCTGTTTTCGAGACAAACCGTTCCCATGGGGCTAACCCGGCCCGGGACCGGGCGTCTTCCTGCAGGCAGCGGGTGGCACAGGCCTAGTGGAGGTCGGGGGCGTGGGGACAGCTGGTCCTTGAGATAGTCTGGGGGATGGGCTAGGACAAGATGGGAATATTTTGGGGAGAGGGACCTGTGGGGAGCGAGGAATGAAATCGTGGCTATCTGGAGACGCGGCCTTGATGTCTGGGAATGGGGGCGGGGGGCCCAGTTCACACAGGAGGAA... | pathogenic | 177,362 |
Variant in gene PYGM (glycogen phosphorylase, muscle associated), located at chromosome 11 position 64747273: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_V'] | AGGGGCGCCCCGCCCAGCCCCCAGCTCGGGTTCCTGTTTTCGAGACAAACCGTTCCCATGGGGCTAACCCGGCCCGGGACCGGGCGTCTTCCTGCAGGCAGCGGGTGGCACAGGCCTAGTGGAGGTCGGGGGCGTGGGGACAGCTGGTCCTTGAGATAGTCTGGGGGATGGGCTAGGACAAGATGGGAATATTTTGGGGAGAGGGACCTGTGGGGAGCGAGGAATGAAATCGTGGCTATCTGGAGACGCGGCCTTGATGTCTGGGAATGGGGGCGGGGGGCCCAGTTCACACAGGAGGAACGGGGCCCCGGAAGCCTGGC... | AGGGGCGCCCCGCCCAGCCCCCAGCTCGGGTTCCTGTTTTCGAGACAAACCGTTCCCATGGGGCTAACCCGGCCCGGGACCGGGCGTCTTCCTGCAGGCAGCGGGTGGCACAGGCCTAGTGGAGGTCGGGGGCGTGGGGACAGCTGGTCCTTGAGATAGTCTGGGGGATGGGCTAGGACAAGATGGGAATATTTTGGGGAGAGGGACCTGTGGGGAGCGAGGAATGAAATCGTGGCTATCTGGAGACGCGGCCTTGATGTCTGGGAATGGGGGCGGGGGGCCCAGTTCACACAGGAGGAACGGGGCCCCGGAAGCCTGGC... | pathogenic | 177,363 |
Does the variant on chromosome 11 at location 64747276 affecting gene PYGM (glycogen phosphorylase, muscle associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Glycogen_storage_disease,_type_V'] | GGCGCCCCGCCCAGCCCCCAGCTCGGGTTCCTGTTTTCGAGACAAACCGTTCCCATGGGGCTAACCCGGCCCGGGACCGGGCGTCTTCCTGCAGGCAGCGGGTGGCACAGGCCTAGTGGAGGTCGGGGGCGTGGGGACAGCTGGTCCTTGAGATAGTCTGGGGGATGGGCTAGGACAAGATGGGAATATTTTGGGGAGAGGGACCTGTGGGGAGCGAGGAATGAAATCGTGGCTATCTGGAGACGCGGCCTTGATGTCTGGGAATGGGGGCGGGGGGCCCAGTTCACACAGGAGGAACGGGGCCCCGGAAGCCTGGCTCC... | GGCGCCCCGCCCAGCCCCCAGCTCGGGTTCCTGTTTTCGAGACAAACCGTTCCCATGGGGCTAACCCGGCCCGGGACCGGGCGTCTTCCTGCAGGCAGCGGGTGGCACAGGCCTAGTGGAGGTCGGGGGCGTGGGGACAGCTGGTCCTTGAGATAGTCTGGGGGATGGGCTAGGACAAGATGGGAATATTTTGGGGAGAGGGACCTGTGGGGAGCGAGGAATGAAATCGTGGCTATCTGGAGACGCGGCCTTGATGTCTGGGAATGGGGGCGGGGGGCCCAGTTCACACAGGAGGAACGGGGCCCCGGAAGCCTGGCTCC... | pathogenic | 177,364 |
Considering the genetic mutation at chromosome 11, position 64750406, impacting PYGM (glycogen phosphorylase, muscle associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_V'] | GCCCATGGGACAGCCAGCTTTCTAGTGAAGCCTCACAGGAGACACTTCTTTCAGTGTTTAATGCCAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTC... | GCCCATGGGACAGCCAGCTTTCTAGTGAAGCCTCACAGGAGACACTTCTTTCAGTGTTTAATGCCAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTC... | pathogenic | 177,370 |
Regarding the variant found on chromosome 11 at position 64750422 in gene PYGM (glycogen phosphorylase, muscle associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Glycogen_storage_disease,_type_V'] | GCTTTCTAGTGAAGCCTCACAGGAGACACTTCTTTCAGTGTTTAATGCCAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTA... | GCTTTCTAGTGAAGCCTCACAGGAGACACTTCTTTCAGTGTTTAATGCCAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTA... | pathogenic | 177,371 |
Variant in PYGM (glycogen phosphorylase, muscle associated), chromosome 11, position 64751626—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glycogen_storage_disease,_type_V'] | CTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATACATTAAAATAAAATAAAATAAAATTTTTTAATGTAATGCCAGGATAATGTCTTCTCTGAAGAACTGTTTCTGACCATAGGCCCCTTGTAACTACTGTGCCCATATTTCCCTTTTGCCCATGGCTTTCAGGGAGCAAGGATTTTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTTACCCAGGCTGGAGCGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCACACCA... | CTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATACATTAAAATAAAATAAAATAAAATTTTTTAATGTAATGCCAGGATAATGTCTTCTCTGAAGAACTGTTTCTGACCATAGGCCCCTTGTAACTACTGTGCCCATATTTCCCTTTTGCCCATGGCTTTCAGGGAGCAAGGATTTTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTTACCCAGGCTGGAGCGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCACACCA... | pathogenic | 177,388 |
Classify the chromosome 11 variant at position 64752089 affecting gene PYGM (glycogen phosphorylase, muscle associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCGTAGAGCAAGGATTTTTTTACTTCCATTTCCCAAACAATATTATCTCTTAGGGTTGATATAATATTCTCTTCCTTTTCCTTCAGTTCTATATTACTTCTTTCTTTTCCAATTTCATTAACCTTATTTGCTGTAAGCGCCCTCTAAAGTTTCCCAGAATCCTGCTGGCCATGACCAAGACCTTGCTGGGCCTGGACCAGTCTTTCCAGACGTGCCGCTTGCTCCCAGCACCACTCTCCAGCAGCCACACCTGGGTGTCTTTTGCCCGTGAA... | CTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCGTAGAGCAAGGATTTTTTTACTTCCATTTCCCAAACAATATTATCTCTTAGGGTTGATATAATATTCTCTTCCTTTTCCTTCAGTTCTATATTACTTCTTTCTTTTCCAATTTCATTAACCTTATTTGCTGTAAGCGCCCTCTAAAGTTTCCCAGAATCCTGCTGGCCATGACCAAGACCTTGCTGGGCCTGGACCAGTCTTTCCAGACGTGCCGCTTGCTCCCAGCACCACTCTCCAGCAGCCACACCTGGGTGTCTTTTGCCCGTGAA... | benign | 177,397 |
Does the variant impacting PYGM (glycogen phosphorylase, muscle associated) on chromosome 11, position 64752476, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease,_type_V'] | AGTTTTCCTCTCCCGCCTCTTCTGCCATCTCCACATTGGCCCCGTCCATGGTGCCAATGGTCAGAGCCCCGTTGAGCATGAACTTCATGTTGCCGGTGCCTGAGGCTTCAGTGCCCGCAGTGGAGATCTGCTCAGAGAGGTCTGCAGCTGGGATCACTGTGGGGTGGCAGCAGGGGGACAAGTCAACTCAGGGAAGACCCTCACACCAGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAGCTGGACTCAGAGTCGCCCCACCCCAAACTCCCAGTCTTCACCAGCCAAGCCTCCCTCTCACACCGCACCCCCACT... | AGTTTTCCTCTCCCGCCTCTTCTGCCATCTCCACATTGGCCCCGTCCATGGTGCCAATGGTCAGAGCCCCGTTGAGCATGAACTTCATGTTGCCGGTGCCTGAGGCTTCAGTGCCCGCAGTGGAGATCTGCTCAGAGAGGTCTGCAGCTGGGATCACTGTGGGGTGGCAGCAGGGGGACAAGTCAACTCAGGGAAGACCCTCACACCAGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAGCTGGACTCAGAGTCGCCCCACCCCAAACTCCCAGTCTTCACCAGCCAAGCCTCCCTCTCACACCGCACCCCCACT... | pathogenic | 177,400 |
Chromosome 11, position 64752491, gene PYGM (glycogen phosphorylase, muscle associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycogen_storage_disease,_type_V'] | CCTCTTCTGCCATCTCCACATTGGCCCCGTCCATGGTGCCAATGGTCAGAGCCCCGTTGAGCATGAACTTCATGTTGCCGGTGCCTGAGGCTTCAGTGCCCGCAGTGGAGATCTGCTCAGAGAGGTCTGCAGCTGGGATCACTGTGGGGTGGCAGCAGGGGGACAAGTCAACTCAGGGAAGACCCTCACACCAGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAGCTGGACTCAGAGTCGCCCCACCCCAAACTCCCAGTCTTCACCAGCCAAGCCTCCCTCTCACACCGCACCCCCACTGCCCTCTACCTCTTG... | CCTCTTCTGCCATCTCCACATTGGCCCCGTCCATGGTGCCAATGGTCAGAGCCCCGTTGAGCATGAACTTCATGTTGCCGGTGCCTGAGGCTTCAGTGCCCGCAGTGGAGATCTGCTCAGAGAGGTCTGCAGCTGGGATCACTGTGGGGTGGCAGCAGGGGGACAAGTCAACTCAGGGAAGACCCTCACACCAGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAGCTGGACTCAGAGTCGCCCCACCCCAAACTCCCAGTCTTCACCAGCCAAGCCTCCCTCTCACACCGCACCCCCACTGCCCTCTACCTCTTG... | pathogenic | 177,401 |
Considering the genetic mutation at chromosome 11, position 64752493, impacting PYGM (glycogen phosphorylase, muscle associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_V'] | TCTTCTGCCATCTCCACATTGGCCCCGTCCATGGTGCCAATGGTCAGAGCCCCGTTGAGCATGAACTTCATGTTGCCGGTGCCTGAGGCTTCAGTGCCCGCAGTGGAGATCTGCTCAGAGAGGTCTGCAGCTGGGATCACTGTGGGGTGGCAGCAGGGGGACAAGTCAACTCAGGGAAGACCCTCACACCAGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAGCTGGACTCAGAGTCGCCCCACCCCAAACTCCCAGTCTTCACCAGCCAAGCCTCCCTCTCACACCGCACCCCCACTGCCCTCTACCTCTTGTT... | TCTTCTGCCATCTCCACATTGGCCCCGTCCATGGTGCCAATGGTCAGAGCCCCGTTGAGCATGAACTTCATGTTGCCGGTGCCTGAGGCTTCAGTGCCCGCAGTGGAGATCTGCTCAGAGAGGTCTGCAGCTGGGATCACTGTGGGGTGGCAGCAGGGGGACAAGTCAACTCAGGGAAGACCCTCACACCAGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAGCTGGACTCAGAGTCGCCCCACCCCAAACTCCCAGTCTTCACCAGCCAAGCCTCCCTCTCACACCGCACCCCCACTGCCCTCTACCTCTTGTT... | pathogenic | 177,402 |
The mutation in gene PYGM (glycogen phosphorylase, muscle associated) at chromosome 11, position 64753083—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycogen_storage_disease,_type_V'] | GCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCT... | GCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCT... | pathogenic | 177,406 |
Variant at chromosome 11, position 64753113, gene PYGM (glycogen phosphorylase, muscle associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Glycogen_storage_disease,_type_V'] | TATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCA... | TATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCA... | pathogenic | 177,408 |
Gene PYGM (glycogen phosphorylase, muscle associated) variant at chromosome position 64753124 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease,_type_V'] | GAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCACTGCCGGGTCA... | GAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCACTGCCGGGTCA... | pathogenic | 177,411 |
The mutation in gene PYGM (glycogen phosphorylase, muscle associated) at chromosome 11, position 64753527—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycogen_storage_disease,_type_V'] | AGTCTGGGGTCAGCTCTACTGCCTGGCCCCCCACCCCCTATCCTGCAACTCAGCTGGGCTGACCTCAACCTGGATATATCAAAGGACGGGAGCCCAGGGCTGGAGCCTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAA... | AGTCTGGGGTCAGCTCTACTGCCTGGCCCCCCACCCCCTATCCTGCAACTCAGCTGGGCTGACCTCAACCTGGATATATCAAAGGACGGGAGCCCAGGGCTGGAGCCTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAA... | pathogenic | 177,415 |
Does the chromosome 11 mutation at position 64753568 within gene PYGM (glycogen phosphorylase, muscle associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Glycogen_storage_disease,_type_V', 'Tip-toe_gait'] | CCTGCAACTCAGCTGGGCTGACCTCAACCTGGATATATCAAAGGACGGGAGCCCAGGGCTGGAGCCTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAAATGGGGATAATTCCATGTCCCAAGAGTAGTCCCAAGTCCAA... | CCTGCAACTCAGCTGGGCTGACCTCAACCTGGATATATCAAAGGACGGGAGCCCAGGGCTGGAGCCTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAAATGGGGATAATTCCATGTCCCAAGAGTAGTCCCAAGTCCAA... | pathogenic | 177,418 |
Variant on chromosome 11, at position 64753633, affecting PYGM (glycogen phosphorylase, muscle associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_V'] | CTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAAATGGGGATAATTCCATGTCCCAAGAGTAGTCCCAAGTCCAAAGGAGATGTTGGTTGGGCAATATGTACTATGCCGCAGGAACACGGGGGAGCACTGAGAGACAGGG... | CTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAAATGGGGATAATTCCATGTCCCAAGAGTAGTCCCAAGTCCAAAGGAGATGTTGGTTGGGCAATATGTACTATGCCGCAGGAACACGGGGGAGCACTGAGAGACAGGG... | pathogenic | 177,422 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 64753949, gene PYGM (glycogen phosphorylase, muscle associated): what disease(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_V'] | AGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACCAGGGCAGACATTGCTAAT... | AGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACCAGGGCAGACATTGCTAAT... | pathogenic | 177,432 |
Chromosome 11, position 64754294, gene PYGM (glycogen phosphorylase, muscle associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycogen_storage_disease,_type_V'] | TCAGATGATGCCTTCCCACCACAGACTCCAGGCAACTTCCACCAACGGCCTGGGCTGGCAGGAGAGATGAGCTCTATTTGCCACGCCTGACCCAGACATCTGGCCCCTCCAGCGCTCTCCACACAGCACAGCTGTCCCACATTGCATCTCTCCCCACCTGCTTCACTTTGGCCACATCCCGAATGAAAGCTTCATCATCCACAAAGGAGAGCAGTTTGCGCAGCTGGTCCAGGTCAGAGATGAAGTCCTCCCCGATGCGCTATGGGAAGACGGCTCTCAGCCAAGCCCATCCCCATGTCCTCCCTCCTCCCAACACAGAA... | TCAGATGATGCCTTCCCACCACAGACTCCAGGCAACTTCCACCAACGGCCTGGGCTGGCAGGAGAGATGAGCTCTATTTGCCACGCCTGACCCAGACATCTGGCCCCTCCAGCGCTCTCCACACAGCACAGCTGTCCCACATTGCATCTCTCCCCACCTGCTTCACTTTGGCCACATCCCGAATGAAAGCTTCATCATCCACAAAGGAGAGCAGTTTGCGCAGCTGGTCCAGGTCAGAGATGAAGTCCTCCCCGATGCGCTATGGGAAGACGGCTCTCAGCCAAGCCCATCCCCATGTCCTCCCTCCTCCCAACACAGAA... | pathogenic | 177,437 |
For chromosome 11, position 64755536, gene PYGM (glycogen phosphorylase, muscle associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Glycogen_storage_disease,_type_V'] | AGAGGGGCGGGATCTGGAAAGCGGGGCTCACATGGTCTTCTTGAGGATCTCGGAGTGGATGCGCGCCACGCCGTTGACGGCGTGCGACCCCGCGATGCACAGGTGTGCCATGTTGATGCGCTTCACTGCGCCCTCCTCCACCAGCGACATGCGCCGCAGCCGGTCTACGTCCCCTGGGAATGCGGCCGCCACCCGCTGTGCCCAGAGAGCCCAGAGCTAGAACCAGACCCAGGAACCCCCATCCCCAGTCCCCAGCCCCACACCCCCAGAGCTCTGCCCAGTGCCCCCACTGCCCCAGAGTCTCAGGGCCCTGGCTGGAC... | AGAGGGGCGGGATCTGGAAAGCGGGGCTCACATGGTCTTCTTGAGGATCTCGGAGTGGATGCGCGCCACGCCGTTGACGGCGTGCGACCCCGCGATGCACAGGTGTGCCATGTTGATGCGCTTCACTGCGCCCTCCTCCACCAGCGACATGCGCCGCAGCCGGTCTACGTCCCCTGGGAATGCGGCCGCCACCCGCTGTGCCCAGAGAGCCCAGAGCTAGAACCAGACCCAGGAACCCCCATCCCCAGTCCCCAGCCCCACACCCCCAGAGCTCTGCCCAGTGCCCCCACTGCCCCAGAGTCTCAGGGCCCTGGCTGGAC... | pathogenic | 177,453 |
Does the variant on chromosome 11 at location 64757763 affecting gene PYGM (glycogen phosphorylase, muscle associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GTCTCTCTGGACCGCATCTAGAGCAAAGACACCCTCAACACCTCCCCGACACCCATAAGCCCTGCCTGGGCAGACGGTGGTGAGGAAAATGGAAGGAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGTCCATCCAAAGGTCTCATCTCTGGTTGACCACAGGGCTAATTCACGGTGACTAATTC... | GTCTCTCTGGACCGCATCTAGAGCAAAGACACCCTCAACACCTCCCCGACACCCATAAGCCCTGCCTGGGCAGACGGTGGTGAGGAAAATGGAAGGAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGTCCATCCAAAGGTCTCATCTCTGGTTGACCACAGGGCTAATTCACGGTGACTAATTC... | benign | 177,458 |
Evaluate the clinical significance of the mutation at chromosome 11, position 64757779 in gene PYGM (glycogen phosphorylase, muscle associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Glycogen_storage_disease,_type_V'] | TCTAGAGCAAAGACACCCTCAACACCTCCCCGACACCCATAAGCCCTGCCTGGGCAGACGGTGGTGAGGAAAATGGAAGGAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGTCCATCCAAAGGTCTCATCTCTGGTTGACCACAGGGCTAATTCACGGTGACTAATTCTGCCCCGCCTTCCATA... | TCTAGAGCAAAGACACCCTCAACACCTCCCCGACACCCATAAGCCCTGCCTGGGCAGACGGTGGTGAGGAAAATGGAAGGAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGTCCATCCAAAGGTCTCATCTCTGGTTGACCACAGGGCTAATTCACGGTGACTAATTCTGCCCCGCCTTCCATA... | pathogenic | 177,460 |
Considering the genetic mutation at chromosome 11, position 64757806, impacting PYGM (glycogen phosphorylase, muscle associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_V'] | CCCCGACACCCATAAGCCCTGCCTGGGCAGACGGTGGTGAGGAAAATGGAAGGAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGTCCATCCAAAGGTCTCATCTCTGGTTGACCACAGGGCTAATTCACGGTGACTAATTCTGCCCCGCCTTCCATAACTAGCAAACATCAATAATTGTCTGCT... | CCCCGACACCCATAAGCCCTGCCTGGGCAGACGGTGGTGAGGAAAATGGAAGGAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGTCCATCCAAAGGTCTCATCTCTGGTTGACCACAGGGCTAATTCACGGTGACTAATTCTGCCCCGCCTTCCATAACTAGCAAACATCAATAATTGTCTGCT... | pathogenic | 177,462 |
Chromosome 11, position 64757858, gene PYGM (glycogen phosphorylase, muscle associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycogen_storage_disease,_type_V'] | GAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGTCCATCCAAAGGTCTCATCTCTGGTTGACCACAGGGCTAATTCACGGTGACTAATTCTGCCCCGCCTTCCATAACTAGCAAACATCAATAATTGTCTGCTACCACGGTGCCAGGGGTACATTCACTCCTCTAAGCGAGCCCTTTTAAGGGGC... | GAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGTCCATCCAAAGGTCTCATCTCTGGTTGACCACAGGGCTAATTCACGGTGACTAATTCTGCCCCGCCTTCCATAACTAGCAAACATCAATAATTGTCTGCTACCACGGTGCCAGGGGTACATTCACTCCTCTAAGCGAGCCCTTTTAAGGGGC... | pathogenic | 177,464 |
Variant chromosome 11, position 64758262, gene PYGM (glycogen phosphorylase, muscle associated): benign or pathogenic? Disease(s)? | pathogenic; ['Glycogen_storage_disease,_type_V'] | GCACACAGCCAGGCTGGCAGCACCAGAGGGAGCCAGGTCTCCTGCCTTCCAGCCACAGCCACTTGTGCCAGTTGCCACGTGCACCTGGCATGGACTGCCAGCAGCCCCCACTGCATCTTAACCTGGAGGACAACAAACAAATGCTCAGTTCTGAAAGCCTAGTGGTTTATCTGCAGCCCATCTGGGGGCTGATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACC... | GCACACAGCCAGGCTGGCAGCACCAGAGGGAGCCAGGTCTCCTGCCTTCCAGCCACAGCCACTTGTGCCAGTTGCCACGTGCACCTGGCATGGACTGCCAGCAGCCCCCACTGCATCTTAACCTGGAGGACAACAAACAAATGCTCAGTTCTGAAAGCCTAGTGGTTTATCTGCAGCCCATCTGGGGGCTGATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACC... | pathogenic | 177,472 |
Evaluate if the mutation on chromosome 11 at position 64758272 in PYGM (glycogen phosphorylase, muscle associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_V'] | AGGCTGGCAGCACCAGAGGGAGCCAGGTCTCCTGCCTTCCAGCCACAGCCACTTGTGCCAGTTGCCACGTGCACCTGGCATGGACTGCCAGCAGCCCCCACTGCATCTTAACCTGGAGGACAACAAACAAATGCTCAGTTCTGAAAGCCTAGTGGTTTATCTGCAGCCCATCTGGGGGCTGATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCT... | AGGCTGGCAGCACCAGAGGGAGCCAGGTCTCCTGCCTTCCAGCCACAGCCACTTGTGCCAGTTGCCACGTGCACCTGGCATGGACTGCCAGCAGCCCCCACTGCATCTTAACCTGGAGGACAACAAACAAATGCTCAGTTCTGAAAGCCTAGTGGTTTATCTGCAGCCCATCTGGGGGCTGATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCT... | pathogenic | 177,474 |
Does the genetic variant at chromosome 11, position 64758287, impacting gene PYGM (glycogen phosphorylase, muscle associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_V'] | GAGGGAGCCAGGTCTCCTGCCTTCCAGCCACAGCCACTTGTGCCAGTTGCCACGTGCACCTGGCATGGACTGCCAGCAGCCCCCACTGCATCTTAACCTGGAGGACAACAAACAAATGCTCAGTTCTGAAAGCCTAGTGGTTTATCTGCAGCCCATCTGGGGGCTGATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCTGGATTCAAGCGATTC... | GAGGGAGCCAGGTCTCCTGCCTTCCAGCCACAGCCACTTGTGCCAGTTGCCACGTGCACCTGGCATGGACTGCCAGCAGCCCCCACTGCATCTTAACCTGGAGGACAACAAACAAATGCTCAGTTCTGAAAGCCTAGTGGTTTATCTGCAGCCCATCTGGGGGCTGATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCTGGATTCAAGCGATTC... | pathogenic | 177,475 |
Clinically, how would you classify the variant at chromosome 11, position 64758424, gene PYGM (glycogen phosphorylase, muscle associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TGGTTTATCTGCAGCCCATCTGGGGGCTGATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCTGGATTCAAGCGATTCTCTGGCTTCAGCCTCCTGAGTGGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATGTTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCC... | TGGTTTATCTGCAGCCCATCTGGGGGCTGATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCTGGATTCAAGCGATTCTCTGGCTTCAGCCTCCTGAGTGGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATGTTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCC... | benign | 177,482 |
Does the genetic variant at chromosome 11, position 64758452, impacting gene PYGM (glycogen phosphorylase, muscle associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_V'] | GATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCTGGATTCAAGCGATTCTCTGGCTTCAGCCTCCTGAGTGGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATGTTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAG... | GATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCTGGATTCAAGCGATTCTCTGGCTTCAGCCTCCTGAGTGGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATGTTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAG... | pathogenic | 177,484 |
Clinical significance of chromosome 11, position 64758453, gene PYGM (glycogen phosphorylase, muscle associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_V'] | ATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCTGGATTCAAGCGATTCTCTGGCTTCAGCCTCCTGAGTGGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATGTTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGA... | ATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCTGGATTCAAGCGATTCTCTGGCTTCAGCCTCCTGAGTGGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATGTTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGA... | pathogenic | 177,485 |
Gene mutation in PYGM (glycogen phosphorylase, muscle associated) at chromosome 11, position 64758487—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glycogen_storage_disease,_type_V'] | CTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCTGGATTCAAGCGATTCTCTGGCTTCAGCCTCCTGAGTGGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATGTTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGTCACCACGCCCGGCCTAAACT... | CTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCTGGATTCAAGCGATTCTCTGGCTTCAGCCTCCTGAGTGGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATGTTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGTCACCACGCCCGGCCTAAACT... | pathogenic | 177,489 |
Evaluate the clinical significance of the mutation at chromosome 11, position 64758686 in gene PYGM (glycogen phosphorylase, muscle associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Glycogen_storage_disease,_type_V'] | AGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGTCACCACGCCCGGCCTAAACTGGGATTTGTACACCTGGTTTGGTTTTAAGGTTTTCAGTTTTTGGTCTTTTTGCTTTTTGAAACAGTCTCACTCTGTCACACAGGCTGGCTGGAGTGCAGTTGTACAATCATAGCTCACTGCAGCCTTTAAATCCTGGACTCAAGTGATCCTCCCACTGAAGCCTCAGAGTAGCTGGGACTACAGGCATGCACCAGCACC... | AGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGTCACCACGCCCGGCCTAAACTGGGATTTGTACACCTGGTTTGGTTTTAAGGTTTTCAGTTTTTGGTCTTTTTGCTTTTTGAAACAGTCTCACTCTGTCACACAGGCTGGCTGGAGTGCAGTTGTACAATCATAGCTCACTGCAGCCTTTAAATCCTGGACTCAAGTGATCCTCCCACTGAAGCCTCAGAGTAGCTGGGACTACAGGCATGCACCAGCACC... | pathogenic | 177,495 |
Does the chromosome 11 mutation at position 64758686 within gene PYGM (glycogen phosphorylase, muscle associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Glycogen_storage_disease,_type_V'] | AGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGTCACCACGCCCGGCCTAAACTGGGATTTGTACACCTGGTTTGGTTTTAAGGTTTTCAGTTTTTGGTCTTTTTGCTTTTTGAAACAGTCTCACTCTGTCACACAGGCTGGCTGGAGTGCAGTTGTACAATCATAGCTCACTGCAGCCTTTAAATCCTGGACTCAAGTGATCCTCCCACTGAAGCCTCAGAGTAGCTGGGACTACAGGCATGCACCAGCACC... | AGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGTCACCACGCCCGGCCTAAACTGGGATTTGTACACCTGGTTTGGTTTTAAGGTTTTCAGTTTTTGGTCTTTTTGCTTTTTGAAACAGTCTCACTCTGTCACACAGGCTGGCTGGAGTGCAGTTGTACAATCATAGCTCACTGCAGCCTTTAAATCCTGGACTCAAGTGATCCTCCCACTGAAGCCTCAGAGTAGCTGGGACTACAGGCATGCACCAGCACC... | pathogenic | 177,496 |
Mutation found at chromosome 11 position 64759700, gene PYGM (glycogen phosphorylase, muscle associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Glycogen_storage_disease,_type_V'] | AGTCACTTAACCTCTCTGAGCCTCAGCATCCTCAGGTGTAAAATACACTGGGTCCTGCTTCCTCTCTGGGCTTCCTTCTCTTCCCTCCCCTTCTCTGGGCTCCCCTGACCCCCAGCTTCATCCTCACCTGTGTGTCCACCCACTTGGCACCCTGGCTGGTGTGCTCCACATGGCCGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCA... | AGTCACTTAACCTCTCTGAGCCTCAGCATCCTCAGGTGTAAAATACACTGGGTCCTGCTTCCTCTCTGGGCTTCCTTCTCTTCCCTCCCCTTCTCTGGGCTCCCCTGACCCCCAGCTTCATCCTCACCTGTGTGTCCACCCACTTGGCACCCTGGCTGGTGTGCTCCACATGGCCGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCA... | pathogenic | 177,503 |
Gene PYGM (glycogen phosphorylase, muscle associated) variant at chromosome 11, position 64759730—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Glycogen_storage_disease,_type_V', 'Tip-toe_gait'] | CTCAGGTGTAAAATACACTGGGTCCTGCTTCCTCTCTGGGCTTCCTTCTCTTCCCTCCCCTTCTCTGGGCTCCCCTGACCCCCAGCTTCATCCTCACCTGTGTGTCCACCCACTTGGCACCCTGGCTGGTGTGCTCCACATGGCCGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGG... | CTCAGGTGTAAAATACACTGGGTCCTGCTTCCTCTCTGGGCTTCCTTCTCTTCCCTCCCCTTCTCTGGGCTCCCCTGACCCCCAGCTTCATCCTCACCTGTGTGTCCACCCACTTGGCACCCTGGCTGGTGTGCTCCACATGGCCGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGG... | pathogenic | 177,505 |
Regarding the variant at chromosome 11 and position 64759773, affecting gene PYGM (glycogen phosphorylase, muscle associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glycogen_storage_disease,_type_V'] | CCTTCTCTTCCCTCCCCTTCTCTGGGCTCCCCTGACCCCCAGCTTCATCCTCACCTGTGTGTCCACCCACTTGGCACCCTGGCTGGTGTGCTCCACATGGCCGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCC... | CCTTCTCTTCCCTCCCCTTCTCTGGGCTCCCCTGACCCCCAGCTTCATCCTCACCTGTGTGTCCACCCACTTGGCACCCTGGCTGGTGTGCTCCACATGGCCGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCC... | pathogenic | 177,508 |
Determine if the mutation at chromosome 11, position 64759819 in gene PYGM (glycogen phosphorylase, muscle associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glycogen_storage_disease,_type_V'] | ATCCTCACCTGTGTGTCCACCCACTTGGCACCCTGGCTGGTGTGCTCCACATGGCCGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAG... | ATCCTCACCTGTGTGTCCACCCACTTGGCACCCTGGCTGGTGTGCTCCACATGGCCGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAG... | pathogenic | 177,510 |
Variant in PYGM (glycogen phosphorylase, muscle associated), chromosome 11, position 64759870—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glycogen_storage_disease,_type_V'] | TGGCCGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTC... | TGGCCGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTC... | pathogenic | 177,512 |
Does the variant impacting PYGM (glycogen phosphorylase, muscle associated) on chromosome 11, position 64759884, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease,_type_V'] | CACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGG... | CACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGG... | pathogenic | 177,514 |
Variant chromosome 11, position 64804498, gene MEN1 (menin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GCAGAACTCCATGCAGATCCACAAGCGGTCATTCCTAGGGACAAAGAGCTGGGGTGGGCACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAG... | GCAGAACTCCATGCAGATCCACAAGCGGTCATTCCTAGGGACAAAGAGCTGGGGTGGGCACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAG... | pathogenic | 177,549 |
Is the genetic variant on chromosome 11, position 64804546, gene MEN1 (menin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CTGGGGTGGGCACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCC... | CTGGGGTGGGCACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCC... | benign | 177,562 |
Is the genetic variant on chromosome 11, position 64804548, gene MEN1 (menin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGGGTGGGCACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGC... | GGGGTGGGCACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGC... | pathogenic | 177,564 |
For chromosome 11, position 64804552, gene MEN1 (menin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGGGCACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGC... | TGGGCACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGC... | pathogenic | 177,566 |
Benign or pathogenic: chromosome 11, position 64804557, gene MEN1 (menin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | ACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCC... | ACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCC... | pathogenic | 177,568 |
Mutation at chromosome 11, position 64804576, within MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGC... | GGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGC... | pathogenic | 177,575 |
The chromosome 11, position 64804592 genetic variant in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAG... | GAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAG... | pathogenic | 177,579 |
Variant chromosome 11, position 64804610, gene MEN1 (menin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | CCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCT... | CCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCT... | pathogenic | 177,582 |
Located at chromosome 11 position 64804618, the variant affecting gene MEN1 (menin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGG... | AGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGG... | pathogenic | 177,585 |
Variant on chromosome 11, at position 64804620, affecting MEN1 (menin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lung_carcinoid_tumor', 'Multiple_endocrine_neoplasia,_type_1'] | CTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTC... | CTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTC... | pathogenic | 177,586 |
Benign or pathogenic: chromosome 11, position 64804620, gene MEN1 (menin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTC... | CTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTC... | pathogenic | 177,587 |
Mutation found at chromosome 11 position 64804627, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | TGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTG... | TGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTG... | pathogenic | 177,590 |
The mutation impacting MEN1 (menin 1) on chromosome 11 at position 64804632: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTAT... | GCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTAT... | pathogenic | 177,593 |
Mutation at chromosome 11, position 64804661, within MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | CAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCG... | CAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCG... | pathogenic | 177,603 |
The chromosome 11, position 64804688 genetic variant in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGT... | GCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGT... | pathogenic | 177,613 |
Clinical classification of chromosome 11, position 64804702, gene MEN1 (menin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGG... | CTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGG... | pathogenic | 177,618 |
A mutation at chromosome position 64804737 on chromosome 11 in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGC... | GGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGC... | pathogenic | 177,624 |
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