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 |
|---|---|---|---|---|---|
Located at chromosome 9 position 35074381, the variant affecting gene FANCG (FA complementation group G)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Fanconi_anemia_complementation_group_G'] | TCACTCGGCTCCAGAAGCCATGGCGCGCGCCTCTCCCGGCCGGCGGCTGTGGCGGCCCGCGGGTAACGGCTACGAGCGGTGGCAAGCGACCGACTGGGCCGGGGCTCGGCTCTTCCAGGCGGTGGGCGAGCAGCGGCGACAAACCCGCAAGCGGCTTCCCTCTCGCTTCCTCCCACCGGCAGCGAGGCGTCGGGCGAACAACGCTGGCTCCTGATCCGCGAGGTGGCAGTGGCAGTGGCAGCGGCAGCGGCAGCGACGACTCAAACGACGGTCGCAGACGCTTCGCTGAGACTGAGCCGAGAAGAGCCGAATCATCGGAA... | TCACTCGGCTCCAGAAGCCATGGCGCGCGCCTCTCCCGGCCGGCGGCTGTGGCGGCCCGCGGGTAACGGCTACGAGCGGTGGCAAGCGACCGACTGGGCCGGGGCTCGGCTCTTCCAGGCGGTGGGCGAGCAGCGGCGACAAACCCGCAAGCGGCTTCCCTCTCGCTTCCTCCCACCGGCAGCGAGGCGTCGGGCGAACAACGCTGGCTCCTGATCCGCGAGGTGGCAGTGGCAGTGGCAGCGGCAGCGGCAGCGACGACTCAAACGACGGTCGCAGACGCTTCGCTGAGACTGAGCCGAGAAGAGCCGAATCATCGGAA... | pathogenic | 143,834 |
Gene FANCG (FA complementation group G) variant at chromosome 9, position 35074475—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | TGGGCCGGGGCTCGGCTCTTCCAGGCGGTGGGCGAGCAGCGGCGACAAACCCGCAAGCGGCTTCCCTCTCGCTTCCTCCCACCGGCAGCGAGGCGTCGGGCGAACAACGCTGGCTCCTGATCCGCGAGGTGGCAGTGGCAGTGGCAGCGGCAGCGGCAGCGACGACTCAAACGACGGTCGCAGACGCTTCGCTGAGACTGAGCCGAGAAGAGCCGAATCATCGGAAGGGAAGCTGCTCCCACCTCAGCCAATCAGCGCCTGCCCTGCGGACTCTCGCCCGCCTCTCCGCGCCTCTCCCCAGCAACCCGCAGATCACAGCC... | TGGGCCGGGGCTCGGCTCTTCCAGGCGGTGGGCGAGCAGCGGCGACAAACCCGCAAGCGGCTTCCCTCTCGCTTCCTCCCACCGGCAGCGAGGCGTCGGGCGAACAACGCTGGCTCCTGATCCGCGAGGTGGCAGTGGCAGTGGCAGCGGCAGCGGCAGCGACGACTCAAACGACGGTCGCAGACGCTTCGCTGAGACTGAGCCGAGAAGAGCCGAATCATCGGAAGGGAAGCTGCTCCCACCTCAGCCAATCAGCGCCTGCCCTGCGGACTCTCGCCCGCCTCTCCGCGCCTCTCCCCAGCAACCCGCAGATCACAGCC... | pathogenic | 143,837 |
The chromosome 9, position 35074478 genetic variant in gene FANCG (FA complementation group G): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | GCCGGGGCTCGGCTCTTCCAGGCGGTGGGCGAGCAGCGGCGACAAACCCGCAAGCGGCTTCCCTCTCGCTTCCTCCCACCGGCAGCGAGGCGTCGGGCGAACAACGCTGGCTCCTGATCCGCGAGGTGGCAGTGGCAGTGGCAGCGGCAGCGGCAGCGACGACTCAAACGACGGTCGCAGACGCTTCGCTGAGACTGAGCCGAGAAGAGCCGAATCATCGGAAGGGAAGCTGCTCCCACCTCAGCCAATCAGCGCCTGCCCTGCGGACTCTCGCCCGCCTCTCCGCGCCTCTCCCCAGCAACCCGCAGATCACAGCCAAT... | GCCGGGGCTCGGCTCTTCCAGGCGGTGGGCGAGCAGCGGCGACAAACCCGCAAGCGGCTTCCCTCTCGCTTCCTCCCACCGGCAGCGAGGCGTCGGGCGAACAACGCTGGCTCCTGATCCGCGAGGTGGCAGTGGCAGTGGCAGCGGCAGCGGCAGCGACGACTCAAACGACGGTCGCAGACGCTTCGCTGAGACTGAGCCGAGAAGAGCCGAATCATCGGAAGGGAAGCTGCTCCCACCTCAGCCAATCAGCGCCTGCCCTGCGGACTCTCGCCCGCCTCTCCGCGCCTCTCCCCAGCAACCCGCAGATCACAGCCAAT... | pathogenic | 143,838 |
Is the genetic mutation found on chromosome 9 at position 35074495, within the gene FANCG (FA complementation group G), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | CCAGGCGGTGGGCGAGCAGCGGCGACAAACCCGCAAGCGGCTTCCCTCTCGCTTCCTCCCACCGGCAGCGAGGCGTCGGGCGAACAACGCTGGCTCCTGATCCGCGAGGTGGCAGTGGCAGTGGCAGCGGCAGCGGCAGCGACGACTCAAACGACGGTCGCAGACGCTTCGCTGAGACTGAGCCGAGAAGAGCCGAATCATCGGAAGGGAAGCTGCTCCCACCTCAGCCAATCAGCGCCTGCCCTGCGGACTCTCGCCCGCCTCTCCGCGCCTCTCCCCAGCAACCCGCAGATCACAGCCAATCAGGAAATTCGCTTGCG... | CCAGGCGGTGGGCGAGCAGCGGCGACAAACCCGCAAGCGGCTTCCCTCTCGCTTCCTCCCACCGGCAGCGAGGCGTCGGGCGAACAACGCTGGCTCCTGATCCGCGAGGTGGCAGTGGCAGTGGCAGCGGCAGCGGCAGCGACGACTCAAACGACGGTCGCAGACGCTTCGCTGAGACTGAGCCGAGAAGAGCCGAATCATCGGAAGGGAAGCTGCTCCCACCTCAGCCAATCAGCGCCTGCCCTGCGGACTCTCGCCCGCCTCTCCGCGCCTCTCCCCAGCAACCCGCAGATCACAGCCAATCAGGAAATTCGCTTGCG... | pathogenic | 143,840 |
The mutation impacting FANCG (FA complementation group G) on chromosome 9 at position 35074969: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['FANCG-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | GGCGGACTCTCCCACTTGGCTCCAGTTCATTGGCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTC... | GGCGGACTCTCCCACTTGGCTCCAGTTCATTGGCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTC... | pathogenic | 143,845 |
Variant in FANCG (FA complementation group G), chromosome 9, position 35074971—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | CGGACTCTCCCACTTGGCTCCAGTTCATTGGCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCC... | CGGACTCTCCCACTTGGCTCCAGTTCATTGGCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCC... | pathogenic | 143,846 |
Clinically, how would you classify the variant at chromosome 9, position 35074989, gene FANCG (FA complementation group G): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | TCCAGTTCATTGGCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCCGTCATTAATATTAATACC... | TCCAGTTCATTGGCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCCGTCATTAATATTAATACC... | pathogenic | 143,849 |
Determine whether the variant at chromosome 9, position 35075079, in gene FANCG (FA complementation group G) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | CCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCCGTCATTAATATTAATACCTTATAATAAGGCACTCAAATCCAGAGAAGTCAAAGGGCAACCACAGAACACACAGCCAATTCAGTAGAACCCAAATTAGCAAGAAAACTG... | CCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCCGTCATTAATATTAATACCTTATAATAAGGCACTCAAATCCAGAGAAGTCAAAGGGCAACCACAGAACACACAGCCAATTCAGTAGAACCCAAATTAGCAAGAAAACTG... | pathogenic | 143,853 |
Does the genetic variant at chromosome 9, position 35075285, impacting gene FANCG (FA complementation group G), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | CCTCCCGTCATTAATATTAATACCTTATAATAAGGCACTCAAATCCAGAGAAGTCAAAGGGCAACCACAGAACACACAGCCAATTCAGTAGAACCCAAATTAGCAAGAAAACTGCATATGCTGGGACTTGAAAATCCTTGGGCCCCAAATAACAGGGGTCCCTGTTAGTAGTCAACAGGCAGCTGTTGGTGATATGCTGACTCAATTCACCTTTCACCCTGTACCCACACAGACACATTTGACTAAGACGAGTCGAATTTCTAGAATTTGGAATTAGGAAGGGAGTGAAGAGTTACTCTGAGAGAAACCTGCCTGTCTCT... | CCTCCCGTCATTAATATTAATACCTTATAATAAGGCACTCAAATCCAGAGAAGTCAAAGGGCAACCACAGAACACACAGCCAATTCAGTAGAACCCAAATTAGCAAGAAAACTGCATATGCTGGGACTTGAAAATCCTTGGGCCCCAAATAACAGGGGTCCCTGTTAGTAGTCAACAGGCAGCTGTTGGTGATATGCTGACTCAATTCACCTTTCACCCTGTACCCACACAGACACATTTGACTAAGACGAGTCGAATTTCTAGAATTTGGAATTAGGAAGGGAGTGAAGAGTTACTCTGAGAGAAACCTGCCTGTCTCT... | pathogenic | 143,856 |
Determine if the mutation at chromosome 9, position 35075286 in gene FANCG (FA complementation group G) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | CTCCCGTCATTAATATTAATACCTTATAATAAGGCACTCAAATCCAGAGAAGTCAAAGGGCAACCACAGAACACACAGCCAATTCAGTAGAACCCAAATTAGCAAGAAAACTGCATATGCTGGGACTTGAAAATCCTTGGGCCCCAAATAACAGGGGTCCCTGTTAGTAGTCAACAGGCAGCTGTTGGTGATATGCTGACTCAATTCACCTTTCACCCTGTACCCACACAGACACATTTGACTAAGACGAGTCGAATTTCTAGAATTTGGAATTAGGAAGGGAGTGAAGAGTTACTCTGAGAGAAACCTGCCTGTCTCTA... | CTCCCGTCATTAATATTAATACCTTATAATAAGGCACTCAAATCCAGAGAAGTCAAAGGGCAACCACAGAACACACAGCCAATTCAGTAGAACCCAAATTAGCAAGAAAACTGCATATGCTGGGACTTGAAAATCCTTGGGCCCCAAATAACAGGGGTCCCTGTTAGTAGTCAACAGGCAGCTGTTGGTGATATGCTGACTCAATTCACCTTTCACCCTGTACCCACACAGACACATTTGACTAAGACGAGTCGAATTTCTAGAATTTGGAATTAGGAAGGGAGTGAAGAGTTACTCTGAGAGAAACCTGCCTGTCTCTA... | pathogenic | 143,857 |
Clinically, how would you classify the variant at chromosome 9, position 35075587, gene FANCG (FA complementation group G): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | AGAAACCTGCCTGTCTCTAAGTAACAGGTACCTGCCCTTGTCCTGAGAGGCCTATCTAGACCACCCTTCAGACCCAACTCCACTCATTGTCACTGTCCTGGGCTTTGGGGCTCTGCATTCAGGCAATGTGAAGGACTAAAGCCACTGCCTCCAAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCG... | AGAAACCTGCCTGTCTCTAAGTAACAGGTACCTGCCCTTGTCCTGAGAGGCCTATCTAGACCACCCTTCAGACCCAACTCCACTCATTGTCACTGTCCTGGGCTTTGGGGCTCTGCATTCAGGCAATGTGAAGGACTAAAGCCACTGCCTCCAAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCG... | pathogenic | 143,870 |
Determine whether the variant at chromosome 9, position 35075706, in gene FANCG (FA complementation group G) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | CAGGCAATGTGAAGGACTAAAGCCACTGCCTCCAAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCGACAACAGAAAAGGAGAAACAGGAAAAAAGGTGCCTCGAGCAAAGTCAATGACTTGGTGGTGGCAGAGATTGTTTCCTCCAAAACGAGAATGGTAGTAACTAGGGCAAATTTCACAGGCC... | CAGGCAATGTGAAGGACTAAAGCCACTGCCTCCAAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCGACAACAGAAAAGGAGAAACAGGAAAAAAGGTGCCTCGAGCAAAGTCAATGACTTGGTGGTGGCAGAGATTGTTTCCTCCAAAACGAGAATGGTAGTAACTAGGGCAAATTTCACAGGCC... | pathogenic | 143,874 |
Is the genetic variant on chromosome 9, position 35075739, gene FANCG (FA complementation group G), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | AAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCGACAACAGAAAAGGAGAAACAGGAAAAAAGGTGCCTCGAGCAAAGTCAATGACTTGGTGGTGGCAGAGATTGTTTCCTCCAAAACGAGAATGGTAGTAACTAGGGCAAATTTCACAGGCCTACCACCAATCTCACCAGTCCAGGAATTATATA... | AAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCGACAACAGAAAAGGAGAAACAGGAAAAAAGGTGCCTCGAGCAAAGTCAATGACTTGGTGGTGGCAGAGATTGTTTCCTCCAAAACGAGAATGGTAGTAACTAGGGCAAATTTCACAGGCCTACCACCAATCTCACCAGTCCAGGAATTATATA... | pathogenic | 143,876 |
The mutation impacting FANCG (FA complementation group G) on chromosome 9 at position 35075739: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | AAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCGACAACAGAAAAGGAGAAACAGGAAAAAAGGTGCCTCGAGCAAAGTCAATGACTTGGTGGTGGCAGAGATTGTTTCCTCCAAAACGAGAATGGTAGTAACTAGGGCAAATTTCACAGGCCTACCACCAATCTCACCAGTCCAGGAATTATATA... | AAAGTGAGGATTCCTGTAGCCCTTTCCTCATACCCAGACTTCAAGTTCATAAGGTAGACGATGTCAGGAAAGGGCATCATAGACAACTAGCACTCAACTAGACGGTCACAAGCCTTCCCACGCAAGTATATGTAGTAGGCAGACGAGATAAATATGAAATTTTACTCGACAACAGAAAAGGAGAAACAGGAAAAAAGGTGCCTCGAGCAAAGTCAATGACTTGGTGGTGGCAGAGATTGTTTCCTCCAAAACGAGAATGGTAGTAACTAGGGCAAATTTCACAGGCCTACCACCAATCTCACCAGTCCAGGAATTATATA... | pathogenic | 143,877 |
Mutation found at chromosome 9 position 35076499, gene FANCG (FA complementation group G): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | CCTCTTCAGAGTCTGAAGCAGGTGAAAGTAAGTGTCTCGATTACCTGTAGCCCCAGCCCAGAGTACAGAGTCTTAGAACTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATAT... | CCTCTTCAGAGTCTGAAGCAGGTGAAAGTAAGTGTCTCGATTACCTGTAGCCCCAGCCCAGAGTACAGAGTCTTAGAACTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATAT... | pathogenic | 143,893 |
Is the variant located on chromosome 9 at position 35076526, gene FANCG (FA complementation group G), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | GTAAGTGTCTCGATTACCTGTAGCCCCAGCCCAGAGTACAGAGTCTTAGAACTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTA... | GTAAGTGTCTCGATTACCTGTAGCCCCAGCCCAGAGTACAGAGTCTTAGAACTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTA... | pathogenic | 143,898 |
For chromosome 9, position 35076566, gene FANCG (FA complementation group G): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['FANCG-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | GAGTCTTAGAACTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACA... | GAGTCTTAGAACTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACA... | pathogenic | 143,902 |
Chromosome 9, position 35076577, gene FANCG (FA complementation group G): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | CTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACA... | CTTGACATAGTCTTAGGCATTGTTTTATAAAAAGGGAAACTGAGGCCTAGAGAGAGGAAGTATCTTGCCTACACTCACATATGGAAGCGGGGGCAGATCATTCACAACCATTCCCATCCCAGTGTCCATCATCTGCCCCCTACTCCTGTGCAACCCACAACAGCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACA... | pathogenic | 143,904 |
Does the variant on chromosome 9 at location 35076739 affecting gene FANCG (FA complementation group G) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | GCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAA... | GCAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAA... | pathogenic | 143,907 |
Does the genetic variant at chromosome 9, position 35077034, impacting gene FANCG (FA complementation group G), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | GCTACCCATTCCAGTCCACGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCC... | GCTACCCATTCCAGTCCACGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCC... | pathogenic | 143,919 |
The genetic variant at chromosome 9, position 35077052, affecting gene FANCG (FA complementation group G): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | CGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGC... | CGACTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGC... | pathogenic | 143,921 |
Does the chromosome 9 mutation at position 35077055 within gene FANCG (FA complementation group G) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | CTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACC... | CTAATTAGGGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACC... | pathogenic | 143,922 |
Is the chromosome 9, position 35077063 variant in FANCG (FA complementation group G) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | GGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAG... | GGCGGCTGCCCGAAGCTGCTGCAGTGCCGCATCTGACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAG... | pathogenic | 143,923 |
The mutation in gene FANCG (FA complementation group G) at chromosome 9, position 35077098—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Abnormality_of_blood_and_blood-forming_tissues', 'Fanconi_anemia'] | ACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAG... | ACTTACATCCCTGCTCACAGTTGAAAGCTGCCCCTGGGGACCACTCCCAAAGTCAAGAAGTGTCTTCCCAGCCTCACAGTCACCAAAACCCCAAATCCTCCTCTATTTCTTCTTGTGTCCACAGTCCCTTTCTCTTAAGTCTCCTGGTGGGCTGGGACACATTAAAGGGAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAG... | pathogenic | 143,927 |
Variant on chromosome 9, at position 35077266, affecting FANCG (FA complementation group G): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | GAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGG... | GAACCCACTTCCACCACTACCACTTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGG... | pathogenic | 143,931 |
Is the genetic mutation found on chromosome 9 at position 35077289, within the gene FANCG (FA complementation group G), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | TTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTAT... | TTCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTAT... | pathogenic | 143,934 |
Considering the variant on chromosome 9, location 35077290, involving gene FANCG (FA complementation group G), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Fanconi_anemia_complementation_group_G'] | TCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATG... | TCCAGGAGGTAAGAGGAAAACTGAAAGTTTAGATCACCTTGTTCTTTTTCCTCAGGTGTGGCCCGGAAGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATG... | pathogenic | 143,935 |
A genetic variant at chromosome 9, position 35077357, affecting gene FANCG (FA complementation group G)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | AGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGT... | AGAGCAGCTCGAGGCACCTGAAGTAGGACACAGAACAGGGGTGAAGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGT... | pathogenic | 143,939 |
Is the variant located on chromosome 9 at position 35077401, gene FANCG (FA complementation group G), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTC... | AGAGGAATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTC... | benign | 143,942 |
Variant in FANCG (FA complementation group G), chromosome 9, position 35077406—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTCTGCCT... | AATCAATTTCAGAAACTCTAGGGTAAGTAGGTGAACATGGAGCTCACCAACTCAGGTCCCAATCAGAAAATCATCCCTCCACACCCCCTCTAGGACCCCGGGCTCACCTGCTAAATTCACTAATTGCCACTTTTTGGGCACCCAGTTGAACCCAGGCCTGGCCCTGAAGCAGGTGGGTGGCAGAGACCCAGAGTGGGCAGTATGGCAGTTCCTTGGTTCCTTTTCTGGCATCTTCCCACAGCCGGGACATCTTGGGTAGCAGAGATGATGTGCGGCTGAGCAACTCCTCACATAGAGTCAAGGCATCTTGGGCTCTGCCT... | benign | 143,943 |
For chromosome 9, position 35078314, gene FANCG (FA complementation group G): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | GTCCTCAGTTCAGGTCTAGAAGCAAGGTAAGAGGCTGAGGAGTGGCGACCTATGTCCTGCCACTGCCTCATTCATCCCCCAAGTCACAAGAACAAAAGCAGAGTCACACCCCAGGGGAGGCATCAGAAGTGGGAAGAGAAGCTCAGGTGAGCAAGGGGAACCTCACCTCCCCGTCTGTAGGCACCTGCTTGCTAGTATGTGCTTGGTCTGGCTCTGAGTGCCACAATGAAGGGGTGAGGCTAGGTCAGGTGGTGGCAGTAGTAATTCTACCTCAATGAGAAACTGCGGGGCTTTGGAACTGCATGGGACATTCAAGGCCT... | GTCCTCAGTTCAGGTCTAGAAGCAAGGTAAGAGGCTGAGGAGTGGCGACCTATGTCCTGCCACTGCCTCATTCATCCCCCAAGTCACAAGAACAAAAGCAGAGTCACACCCCAGGGGAGGCATCAGAAGTGGGAAGAGAAGCTCAGGTGAGCAAGGGGAACCTCACCTCCCCGTCTGTAGGCACCTGCTTGCTAGTATGTGCTTGGTCTGGCTCTGAGTGCCACAATGAAGGGGTGAGGCTAGGTCAGGTGGTGGCAGTAGTAATTCTACCTCAATGAGAAACTGCGGGGCTTTGGAACTGCATGGGACATTCAAGGCCT... | pathogenic | 143,958 |
Is the genetic mutation found on chromosome 9 at position 35079164, within the gene FANCG (FA complementation group G), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | GGTGTGAGCTTGGAGAGGGCTATAGAGCAGGGGTCATGATGGGGAACAAGGGTCTAAGAAGCCCATGGAACTGAATGGGACAAGAGAGAGGGCATGAGTCTGGAGGACCACTTAAAGGTAGAAGAGATGAGTCAGGTTGCTAGCTGACCTTGGCGGTAGGCAAATGCTGTCAGGAGGACATCCTTCAATCCCTGGGCATCCTGCAGGGTCAATGGAGCATCTAATTCCTCAGCTGGGGGACTCCAAGTTTTCAGAAGTAACAGCAGATCCTTAGAGGCTCCACTCTGGGGAAAGAAGGACAACCAGAAGCTCCAAGCCTA... | GGTGTGAGCTTGGAGAGGGCTATAGAGCAGGGGTCATGATGGGGAACAAGGGTCTAAGAAGCCCATGGAACTGAATGGGACAAGAGAGAGGGCATGAGTCTGGAGGACCACTTAAAGGTAGAAGAGATGAGTCAGGTTGCTAGCTGACCTTGGCGGTAGGCAAATGCTGTCAGGAGGACATCCTTCAATCCCTGGGCATCCTGCAGGGTCAATGGAGCATCTAATTCCTCAGCTGGGGGACTCCAAGTTTTCAGAAGTAACAGCAGATCCTTAGAGGCTCCACTCTGGGGAAAGAAGGACAACCAGAAGCTCCAAGCCTA... | pathogenic | 143,973 |
Gene mutation in FANCG (FA complementation group G) at chromosome 9, position 35079169—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | GAGCTTGGAGAGGGCTATAGAGCAGGGGTCATGATGGGGAACAAGGGTCTAAGAAGCCCATGGAACTGAATGGGACAAGAGAGAGGGCATGAGTCTGGAGGACCACTTAAAGGTAGAAGAGATGAGTCAGGTTGCTAGCTGACCTTGGCGGTAGGCAAATGCTGTCAGGAGGACATCCTTCAATCCCTGGGCATCCTGCAGGGTCAATGGAGCATCTAATTCCTCAGCTGGGGGACTCCAAGTTTTCAGAAGTAACAGCAGATCCTTAGAGGCTCCACTCTGGGGAAAGAAGGACAACCAGAAGCTCCAAGCCTACAACC... | GAGCTTGGAGAGGGCTATAGAGCAGGGGTCATGATGGGGAACAAGGGTCTAAGAAGCCCATGGAACTGAATGGGACAAGAGAGAGGGCATGAGTCTGGAGGACCACTTAAAGGTAGAAGAGATGAGTCAGGTTGCTAGCTGACCTTGGCGGTAGGCAAATGCTGTCAGGAGGACATCCTTCAATCCCTGGGCATCCTGCAGGGTCAATGGAGCATCTAATTCCTCAGCTGGGGGACTCCAAGTTTTCAGAAGTAACAGCAGATCCTTAGAGGCTCCACTCTGGGGAAAGAAGGACAACCAGAAGCTCCAAGCCTACAACC... | pathogenic | 143,974 |
For chromosome 9, position 35079976, gene FANCG (FA complementation group G): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ATGCCTGTCCAATTTTTAAAAAACACTCCTAAGAGAATCCCCACAATGAGAGACCAACCAGGGCAAGGTCACCCAAGAGTCCCAGAGAGAATCCAGGTTTTCCGACCACCAACCCAGCCGCCTGTCCAGTACATGATGATGCTACTGCAGCTGGAGAGAAAGGAGGAGGAAGGAAGGAGGAGACCCTCAGCTTCAGGTCACTTTCCCTATTACCTGGCTGCCATTCAGGGTCTCTAGTAACAAGGCCAGGTCCCCAAGACGGTCAGCACTCAACCAGAGGGCAGCCTGCAGGCCAACCAGGCGGTGCAGGGCAGACAGCA... | ATGCCTGTCCAATTTTTAAAAAACACTCCTAAGAGAATCCCCACAATGAGAGACCAACCAGGGCAAGGTCACCCAAGAGTCCCAGAGAGAATCCAGGTTTTCCGACCACCAACCCAGCCGCCTGTCCAGTACATGATGATGCTACTGCAGCTGGAGAGAAAGGAGGAGGAAGGAAGGAGGAGACCCTCAGCTTCAGGTCACTTTCCCTATTACCTGGCTGCCATTCAGGGTCTCTAGTAACAAGGCCAGGTCCCCAAGACGGTCAGCACTCAACCAGAGGGCAGCCTGCAGGCCAACCAGGCGGTGCAGGGCAGACAGCA... | benign | 143,993 |
Assess the variant on chromosome 9, position 35090457, impacting PIGO (phosphatidylinositol glycan anchor biosynthesis class O): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TGGGCTTGTCTTCTCAGTCTTCTCTCTTTATCAGACAAAGAACAGGAACTTAACAAAATGTGTTGCATGGCAAAGGAAAATAGCGGTGGGATAATAGGATTGATTTGGGAAGAGGTGGAGGCAGTGAATTCAGACAACTCCAACCACTTCATAAAGGTTCTCAGGTGCAGCCAGGCTTTCCTAAGATGACTGATCTCATCTGTGCCTGGTGGCAGGAGAGACTGATCCTCCTCACAACCCCTATAGAACAGTGGGGCTCCCCCACATCTCAGACACACATAATTATATTATCATTTTATTACACTTTTTTTTAAATAGTA... | TGGGCTTGTCTTCTCAGTCTTCTCTCTTTATCAGACAAAGAACAGGAACTTAACAAAATGTGTTGCATGGCAAAGGAAAATAGCGGTGGGATAATAGGATTGATTTGGGAAGAGGTGGAGGCAGTGAATTCAGACAACTCCAACCACTTCATAAAGGTTCTCAGGTGCAGCCAGGCTTTCCTAAGATGACTGATCTCATCTGTGCCTGGTGGCAGGAGAGACTGATCCTCCTCACAACCCCTATAGAACAGTGGGGCTCCCCCACATCTCAGACACACATAATTATATTATCATTTTATTACACTTTTTTTTAAATAGTA... | benign | 144,006 |
The chromosome 9, position 35091525 genetic variant in gene PIGO (phosphatidylinositol glycan anchor biosynthesis class O): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hyperphosphatasia_with_intellectual_disability_syndrome_2'] | TACTTGTGAAGGAGAGGAGGAAGCGGAGCAAAAGGAGAGTTTCTATAGGCCCCTGTAAAAAATGGAAGCAGGAGAATAGTGCATGTCAGTGGAAAAAATATTGCATGTCCTGGGCTAGGAGTTAGGAGACCTACTTCCTGCCCTGCCCCAAGCACTGACTCACTATGTGACTTTGGGCAAGTCAGTATCCATCTGCAATGCTAACACTCAGGCTGTGCCCCCAGGATGGAGGAAGATATCAGTGCCACATCTGCCTCTGGAGGAAAGGAAGAGGATCCATGACCACAGTTTGGGAAGAAAATCCTGGCTATCACCTCAGT... | TACTTGTGAAGGAGAGGAGGAAGCGGAGCAAAAGGAGAGTTTCTATAGGCCCCTGTAAAAAATGGAAGCAGGAGAATAGTGCATGTCAGTGGAAAAAATATTGCATGTCCTGGGCTAGGAGTTAGGAGACCTACTTCCTGCCCTGCCCCAAGCACTGACTCACTATGTGACTTTGGGCAAGTCAGTATCCATCTGCAATGCTAACACTCAGGCTGTGCCCCCAGGATGGAGGAAGATATCAGTGCCACATCTGCCTCTGGAGGAAAGGAAGAGGATCCATGACCACAGTTTGGGAAGAAAATCCTGGCTATCACCTCAGT... | pathogenic | 144,019 |
The mutation impacting PIGO (phosphatidylinositol glycan anchor biosynthesis class O) on chromosome 9 at position 35091695: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hyperphosphatasia_with_intellectual_disability_syndrome_2'] | CTTTGGGCAAGTCAGTATCCATCTGCAATGCTAACACTCAGGCTGTGCCCCCAGGATGGAGGAAGATATCAGTGCCACATCTGCCTCTGGAGGAAAGGAAGAGGATCCATGACCACAGTTTGGGAAGAAAATCCTGGCTATCACCTCAGTTTTTCCAGTCTGTCCACTGATAGAGTAATCCTCAAATGCAACTAGCGGGGTCCAGATCTAGGTTGTAGAGGGGAAATGATCCAGGACTAGGATTAAGGAGACCCAGGTTCAAGTCTCAGAACTGCCATTTGAGGCCACTGGGCTTGGGCAACCACTTCACTTATGTGAAA... | CTTTGGGCAAGTCAGTATCCATCTGCAATGCTAACACTCAGGCTGTGCCCCCAGGATGGAGGAAGATATCAGTGCCACATCTGCCTCTGGAGGAAAGGAAGAGGATCCATGACCACAGTTTGGGAAGAAAATCCTGGCTATCACCTCAGTTTTTCCAGTCTGTCCACTGATAGAGTAATCCTCAAATGCAACTAGCGGGGTCCAGATCTAGGTTGTAGAGGGGAAATGATCCAGGACTAGGATTAAGGAGACCCAGGTTCAAGTCTCAGAACTGCCATTTGAGGCCACTGGGCTTGGGCAACCACTTCACTTATGTGAAA... | pathogenic | 144,024 |
Does the chromosome 9 mutation at position 35092076 within gene PIGO (phosphatidylinositol glycan anchor biosynthesis class O) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hyperphosphatasia-intellectual_disability_syndrome', 'Hyperphosphatasia_with_intellectual_disability_syndrome_2', 'Inborn_genetic_diseases'] | AAAAAACACCAACTCCCTGATCTCTCTCCTACACCCACCTGAATACCAAGGATAAAGAGGTACTTGAGGCCCAGCTGCAGCAGTGCTGCATAGAAGTGCTGAGGCGCATCCCGGAGCCGCATCTCCATCAGTGGCTCCTCTTCCTCCTCGGGTCTGACTCTGGCATCAGCTTCATTCCCTGGGGGCTGCTGTCTCTTCCGCAGCCCTTGACTCTCACACAGGAAAGGCCAGAGCAGGAGCAGTGGGCAACCTACTGCCTCAAGAGAGGGTATGGCTGGAATCAACAGGCCACCCTGGCTGGCTCAGGTTCCAATTAGCCT... | AAAAAACACCAACTCCCTGATCTCTCTCCTACACCCACCTGAATACCAAGGATAAAGAGGTACTTGAGGCCCAGCTGCAGCAGTGCTGCATAGAAGTGCTGAGGCGCATCCCGGAGCCGCATCTCCATCAGTGGCTCCTCTTCCTCCTCGGGTCTGACTCTGGCATCAGCTTCATTCCCTGGGGGCTGCTGTCTCTTCCGCAGCCCTTGACTCTCACACAGGAAAGGCCAGAGCAGGAGCAGTGGGCAACCTACTGCCTCAAGAGAGGGTATGGCTGGAATCAACAGGCCACCCTGGCTGGCTCAGGTTCCAATTAGCCT... | pathogenic | 144,032 |
Variant in PIGO (phosphatidylinositol glycan anchor biosynthesis class O), chromosome 9, position 35092614—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hyperphosphatasia_with_intellectual_disability_syndrome_2'] | ATGCCAATGGATGGCTGGAAAGACAGGCTGGTGGCCTGTGGAGTAGAAGGTCTGTGTGGCCATGAGGGCCCAAGCCGAGACTGCCTGCCATGGCACAGTAAAAGGACCTGGAAGAAAAGATATGCCACGTTACAGTCACTTCTTATTCCCTAATCCATAGGCTACTGCTCCACAATCATATACTCCTACTACTTCAGTATCAATTCTCATACACACTCAAATGCCTATCAGCCCAACCTCCTTACAGTCAACATTCTGTTATTCTAATTCTCTCTGTGGTACAAAAGCGCCATCAGGCTTATCTGAATCCTGCTATGGCC... | ATGCCAATGGATGGCTGGAAAGACAGGCTGGTGGCCTGTGGAGTAGAAGGTCTGTGTGGCCATGAGGGCCCAAGCCGAGACTGCCTGCCATGGCACAGTAAAAGGACCTGGAAGAAAAGATATGCCACGTTACAGTCACTTCTTATTCCCTAATCCATAGGCTACTGCTCCACAATCATATACTCCTACTACTTCAGTATCAATTCTCATACACACTCAAATGCCTATCAGCCCAACCTCCTTACAGTCAACATTCTGTTATTCTAATTCTCTCTGTGGTACAAAAGCGCCATCAGGCTTATCTGAATCCTGCTATGGCC... | pathogenic | 144,041 |
Does the chromosome 9 mutation at position 35094280 within gene PIGO (phosphatidylinositol glycan anchor biosynthesis class O) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hyperphosphatasia_with_intellectual_disability_syndrome_2'] | AGTAACAGGACGGGCCCAGGGATGGGAAACAGGGTTGCCAGGGGCCTCTTGGACCCCCAGCCAGCCCAGGCTTTCCACAGAAAAGGGAGGAATGAGCTCACTGCAGCCACAGCCCCTAGAAGCACTAGATCTAGCTTCAGCTCAATAGTTCCCAGGAGTCCAGCATACGCTATGGCCCCAACCAGGCCCCAGGCCACAGGTGTCAGGAGTAGAGGGCAGAATGGAAAGCCTGGGGATATTGCCCACTGAGATGCCAGCAGGCAGATAAAGCAGGAAGCAGCCAAGAGAGCAGTACCCCCCGCCATGCGGACCAGAGAGAA... | AGTAACAGGACGGGCCCAGGGATGGGAAACAGGGTTGCCAGGGGCCTCTTGGACCCCCAGCCAGCCCAGGCTTTCCACAGAAAAGGGAGGAATGAGCTCACTGCAGCCACAGCCCCTAGAAGCACTAGATCTAGCTTCAGCTCAATAGTTCCCAGGAGTCCAGCATACGCTATGGCCCCAACCAGGCCCCAGGCCACAGGTGTCAGGAGTAGAGGGCAGAATGGAAAGCCTGGGGATATTGCCCACTGAGATGCCAGCAGGCAGATAAAGCAGGAAGCAGCCAAGAGAGCAGTACCCCCCGCCATGCGGACCAGAGAGAA... | pathogenic | 144,066 |
Does the variant on chromosome 9 at location 35547811 affecting gene RUSC2 (RUN and SH3 domain containing 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TAATGCCCAACTCAGTGTCTGCATTCAAGAAGTTCTAGTATAGTAGTGAGGATAGTAAGGATACTTAGCCCACGGTCATCAGAAAGGGACAAATATTCTGGGGCTTGTAGGACGAGAAAGGGGATCAGAGATAACAGTCACTTGGTCAGATGATACCGTATATTTTAAAATGCTTCTTGCAAAATTATAGCTTATTGCTATGAGTTCATATTATTCATGATTTTCCCTCTTGGCTGTAAACTTGTGTGCTATAGCTGTGTCTAAGCCTTAAACATCCTAGATGGTTTTTTCTTAATTGTGTCATTATTCATAGTTTTTTT... | TAATGCCCAACTCAGTGTCTGCATTCAAGAAGTTCTAGTATAGTAGTGAGGATAGTAAGGATACTTAGCCCACGGTCATCAGAAAGGGACAAATATTCTGGGGCTTGTAGGACGAGAAAGGGGATCAGAGATAACAGTCACTTGGTCAGATGATACCGTATATTTTAAAATGCTTCTTGCAAAATTATAGCTTATTGCTATGAGTTCATATTATTCATGATTTTCCCTCTTGGCTGTAAACTTGTGTGCTATAGCTGTGTCTAAGCCTTAAACATCCTAGATGGTTTTTTCTTAATTGTGTCATTATTCATAGTTTTTTT... | benign | 144,096 |
Is the genetic change at chromosome 9, position 35555051, within gene RUSC2 (RUN and SH3 domain containing 2) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGTGGTTGGGATGACCTAATCCGATAGCCAGAGTCAGCTCAGCCTTGAAAACTGATACTTAAATAGGCGGAAAGGAAGGACACATTCCTGATGGGAAAAGCAGTGGGCTTCATGACAGGGATGGACTGGGAAGAGTAGGGTCAGTGGGGGCAGGTGTGGAAGTCTGAAGGGAGAGCAGCCTAGCTCGTAGCAGGTGTGGGCAACTAGCTCACTGAGAAGATTAGACTTTATTCTGGGAGATAAAATTTGTATCTCAGAAGCTAGTTGGTGTATGTAAGAAGCTTCTGGTTGTAGTGAGACTGGCTTGAATCAAGAGTGAC... | TGTGGTTGGGATGACCTAATCCGATAGCCAGAGTCAGCTCAGCCTTGAAAACTGATACTTAAATAGGCGGAAAGGAAGGACACATTCCTGATGGGAAAAGCAGTGGGCTTCATGACAGGGATGGACTGGGAAGAGTAGGGTCAGTGGGGGCAGGTGTGGAAGTCTGAAGGGAGAGCAGCCTAGCTCGTAGCAGGTGTGGGCAACTAGCTCACTGAGAAGATTAGACTTTATTCTGGGAGATAAAATTTGTATCTCAGAAGCTAGTTGGTGTATGTAAGAAGCTTCTGGTTGTAGTGAGACTGGCTTGAATCAAGAGTGAC... | benign | 144,101 |
Mutation at chromosome 9, position 35683243, within TPM2 (tropomyosin 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GATGGTATTTGAATTTCCTATTACTGTTATTAGCACGAATTTAGTGGTAATGCATTTATTCTATTACAGTTCGGAGGTCAGCAGTCAGATGTCAGTAGGGCTTGTTCCTCCTTCCACACATCACTCCAATCTCTTGCTCCCATTGTCACAACTCCTACCTCCACATTTGACCTCCTTGTCTCCTCAAGAACCCTTGGGATTACACTGGGCCTAACTAGATAACCAAGGATAATCATCCCATCTCAAAATCTTAATCACCAAGTTTCTTCCCATGTAAGATAAGAACAATGCACAGGATTAGAACATGGACATCTTTGGAG... | GATGGTATTTGAATTTCCTATTACTGTTATTAGCACGAATTTAGTGGTAATGCATTTATTCTATTACAGTTCGGAGGTCAGCAGTCAGATGTCAGTAGGGCTTGTTCCTCCTTCCACACATCACTCCAATCTCTTGCTCCCATTGTCACAACTCCTACCTCCACATTTGACCTCCTTGTCTCCTCAAGAACCCTTGGGATTACACTGGGCCTAACTAGATAACCAAGGATAATCATCCCATCTCAAAATCTTAATCACCAAGTTTCTTCCCATGTAAGATAAGAACAATGCACAGGATTAGAACATGGACATCTTTGGAG... | benign | 144,244 |
Does the variant impacting TPM2 (tropomyosin 2) on chromosome 9, position 35683243, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GATGGTATTTGAATTTCCTATTACTGTTATTAGCACGAATTTAGTGGTAATGCATTTATTCTATTACAGTTCGGAGGTCAGCAGTCAGATGTCAGTAGGGCTTGTTCCTCCTTCCACACATCACTCCAATCTCTTGCTCCCATTGTCACAACTCCTACCTCCACATTTGACCTCCTTGTCTCCTCAAGAACCCTTGGGATTACACTGGGCCTAACTAGATAACCAAGGATAATCATCCCATCTCAAAATCTTAATCACCAAGTTTCTTCCCATGTAAGATAAGAACAATGCACAGGATTAGAACATGGACATCTTTGGAG... | GATGGTATTTGAATTTCCTATTACTGTTATTAGCACGAATTTAGTGGTAATGCATTTATTCTATTACAGTTCGGAGGTCAGCAGTCAGATGTCAGTAGGGCTTGTTCCTCCTTCCACACATCACTCCAATCTCTTGCTCCCATTGTCACAACTCCTACCTCCACATTTGACCTCCTTGTCTCCTCAAGAACCCTTGGGATTACACTGGGCCTAACTAGATAACCAAGGATAATCATCCCATCTCAAAATCTTAATCACCAAGTTTCTTCCCATGTAAGATAAGAACAATGCACAGGATTAGAACATGGACATCTTTGGAG... | benign | 144,245 |
A genetic variant at chromosome 9, position 35683244, affecting gene TPM2 (tropomyosin 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | ATGGTATTTGAATTTCCTATTACTGTTATTAGCACGAATTTAGTGGTAATGCATTTATTCTATTACAGTTCGGAGGTCAGCAGTCAGATGTCAGTAGGGCTTGTTCCTCCTTCCACACATCACTCCAATCTCTTGCTCCCATTGTCACAACTCCTACCTCCACATTTGACCTCCTTGTCTCCTCAAGAACCCTTGGGATTACACTGGGCCTAACTAGATAACCAAGGATAATCATCCCATCTCAAAATCTTAATCACCAAGTTTCTTCCCATGTAAGATAAGAACAATGCACAGGATTAGAACATGGACATCTTTGGAGA... | ATGGTATTTGAATTTCCTATTACTGTTATTAGCACGAATTTAGTGGTAATGCATTTATTCTATTACAGTTCGGAGGTCAGCAGTCAGATGTCAGTAGGGCTTGTTCCTCCTTCCACACATCACTCCAATCTCTTGCTCCCATTGTCACAACTCCTACCTCCACATTTGACCTCCTTGTCTCCTCAAGAACCCTTGGGATTACACTGGGCCTAACTAGATAACCAAGGATAATCATCCCATCTCAAAATCTTAATCACCAAGTTTCTTCCCATGTAAGATAAGAACAATGCACAGGATTAGAACATGGACATCTTTGGAGA... | benign | 144,246 |
Considering the variant on chromosome 9, location 35684824, involving gene TPM2 (tropomyosin 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CTGTGCAGAGGGGTTTCAGCGTGGGCCATGGTGTTTTGTGGGTGGGCTCAGTGCAGGGGCTGGGGGTGTCAGTAAGTGCCAGGGTGTCAGGAGTGAACCAGTGCTCCGTGGTGGCGATAGAGGTGCTCTCTGGAGGGCAGGAAAACAGCATGGAGACCAAGTTCAGAATTTATTAAGCAGCAAAGGAGGGTGGAAGGGGATAGGTAAAGGATGAAGCCAGTGCCAGAGTGGGTGGTGGGCATGATGGGGGCTCTCCCTAGGCTGCTCCCAGCCTGGCTGTGCAATGTTGGCAATTTCTGCTCCTCCTGCCTGCTCCCCTC... | CTGTGCAGAGGGGTTTCAGCGTGGGCCATGGTGTTTTGTGGGTGGGCTCAGTGCAGGGGCTGGGGGTGTCAGTAAGTGCCAGGGTGTCAGGAGTGAACCAGTGCTCCGTGGTGGCGATAGAGGTGCTCTCTGGAGGGCAGGAAAACAGCATGGAGACCAAGTTCAGAATTTATTAAGCAGCAAAGGAGGGTGGAAGGGGATAGGTAAAGGATGAAGCCAGTGCCAGAGTGGGTGGTGGGCATGATGGGGGCTCTCCCTAGGCTGCTCCCAGCCTGGCTGTGCAATGTTGGCAATTTCTGCTCCTCCTGCCTGCTCCCCTC... | benign | 144,251 |
Is the genetic mutation found on chromosome 9 at position 35684825, within the gene TPM2 (tropomyosin 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGTGCAGAGGGGTTTCAGCGTGGGCCATGGTGTTTTGTGGGTGGGCTCAGTGCAGGGGCTGGGGGTGTCAGTAAGTGCCAGGGTGTCAGGAGTGAACCAGTGCTCCGTGGTGGCGATAGAGGTGCTCTCTGGAGGGCAGGAAAACAGCATGGAGACCAAGTTCAGAATTTATTAAGCAGCAAAGGAGGGTGGAAGGGGATAGGTAAAGGATGAAGCCAGTGCCAGAGTGGGTGGTGGGCATGATGGGGGCTCTCCCTAGGCTGCTCCCAGCCTGGCTGTGCAATGTTGGCAATTTCTGCTCCTCCTGCCTGCTCCCCTCC... | TGTGCAGAGGGGTTTCAGCGTGGGCCATGGTGTTTTGTGGGTGGGCTCAGTGCAGGGGCTGGGGGTGTCAGTAAGTGCCAGGGTGTCAGGAGTGAACCAGTGCTCCGTGGTGGCGATAGAGGTGCTCTCTGGAGGGCAGGAAAACAGCATGGAGACCAAGTTCAGAATTTATTAAGCAGCAAAGGAGGGTGGAAGGGGATAGGTAAAGGATGAAGCCAGTGCCAGAGTGGGTGGTGGGCATGATGGGGGCTCTCCCTAGGCTGCTCCCAGCCTGGCTGTGCAATGTTGGCAATTTCTGCTCCTCCTGCCTGCTCCCCTCC... | benign | 144,252 |
Gene TPM2 (tropomyosin 2) variant at chromosome 9, position 35684825—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGTGCAGAGGGGTTTCAGCGTGGGCCATGGTGTTTTGTGGGTGGGCTCAGTGCAGGGGCTGGGGGTGTCAGTAAGTGCCAGGGTGTCAGGAGTGAACCAGTGCTCCGTGGTGGCGATAGAGGTGCTCTCTGGAGGGCAGGAAAACAGCATGGAGACCAAGTTCAGAATTTATTAAGCAGCAAAGGAGGGTGGAAGGGGATAGGTAAAGGATGAAGCCAGTGCCAGAGTGGGTGGTGGGCATGATGGGGGCTCTCCCTAGGCTGCTCCCAGCCTGGCTGTGCAATGTTGGCAATTTCTGCTCCTCCTGCCTGCTCCCCTCC... | TGTGCAGAGGGGTTTCAGCGTGGGCCATGGTGTTTTGTGGGTGGGCTCAGTGCAGGGGCTGGGGGTGTCAGTAAGTGCCAGGGTGTCAGGAGTGAACCAGTGCTCCGTGGTGGCGATAGAGGTGCTCTCTGGAGGGCAGGAAAACAGCATGGAGACCAAGTTCAGAATTTATTAAGCAGCAAAGGAGGGTGGAAGGGGATAGGTAAAGGATGAAGCCAGTGCCAGAGTGGGTGGTGGGCATGATGGGGGCTCTCCCTAGGCTGCTCCCAGCCTGGCTGTGCAATGTTGGCAATTTCTGCTCCTCCTGCCTGCTCCCCTCC... | benign | 144,253 |
Mutation at chromosome 9, position 35685346, within TPM2 (tropomyosin 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AAGAGGAAAGGAAGGAGAGAGAGCAATGGAAAGAAAAACAGAATCAGAGGTACACAAAGACAGAGTGAGAGAGGGAGGCCAGGGAACAGGCTGGACAGCTGTCAGGAACTCCTTCTCCCCATCTCTACCCCATCTCTTTTCTGTCCTTCTCTGTACCCCAAATTGGCTCTACCCATGGCAGCTCCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAG... | AAGAGGAAAGGAAGGAGAGAGAGCAATGGAAAGAAAAACAGAATCAGAGGTACACAAAGACAGAGTGAGAGAGGGAGGCCAGGGAACAGGCTGGACAGCTGTCAGGAACTCCTTCTCCCCATCTCTACCCCATCTCTTTTCTGTCCTTCTCTGTACCCCAAATTGGCTCTACCCATGGCAGCTCCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAG... | benign | 144,255 |
A genetic variant at chromosome 9, position 35685508, affecting gene TPM2 (tropomyosin 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Arthrogryposis,_distal,_type_1A', 'Congenital_myopathy_23', 'TPM2-related_disorder'] | TTGGCTCTACCCATGGCAGCTCCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAGGCTGGAAGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGT... | TTGGCTCTACCCATGGCAGCTCCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAGGCTGGAAGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGT... | pathogenic | 144,257 |
The mutation impacting TPM2 (tropomyosin 2) on chromosome 9 at position 35689165: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Arthrogryposis,_distal,_type_1A'] | TTCTGAGATAATCCACTGCTTTTAATACTCAGTTAATCAACAGGACCTTCGGTGAGACTCATAAAACTAAACAGGTTCTCTTACTCCATGCTAGATCCACTGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAA... | TTCTGAGATAATCCACTGCTTTTAATACTCAGTTAATCAACAGGACCTTCGGTGAGACTCATAAAACTAAACAGGTTCTCTTACTCCATGCTAGATCCACTGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAA... | pathogenic | 144,265 |
Gene TPM2 (tropomyosin 2) variant at chromosome 9, position 35689795—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Arthrogryposis,_distal,_type_1A', 'Congenital_myopathy_23'] | AAGAAAAACTCTGCATGATGGTGGGGTGACAAAAGACTCTGGAAAGTTTGGGAAGTCCTGGGGTCCTCATCATGGGACTGATATGTGCCATTTCCTGCCTCTCAAGCTCTTCCCAGTTACGGGGGCGGCTCTCTAACCACAGGACAGGCACTACTGTCCCCATTAGAAAAATGGGAAGCAAGAGAGAGGGAGAAACTGAGGCACCATGTAAGTTGAGTGCTGTGTTCAAGGTCACCAGGAAGCTTGGGCAGTCTTTCCTATCTGCTCCTGGTGCTGCGGCTCTGCCTCCCCAGCTCTGTCCCTGTCCCCCCTGCCCCTCC... | AAGAAAAACTCTGCATGATGGTGGGGTGACAAAAGACTCTGGAAAGTTTGGGAAGTCCTGGGGTCCTCATCATGGGACTGATATGTGCCATTTCCTGCCTCTCAAGCTCTTCCCAGTTACGGGGGCGGCTCTCTAACCACAGGACAGGCACTACTGTCCCCATTAGAAAAATGGGAAGCAAGAGAGAGGGAGAAACTGAGGCACCATGTAAGTTGAGTGCTGTGTTCAAGGTCACCAGGAAGCTTGGGCAGTCTTTCCTATCTGCTCCTGGTGCTGCGGCTCTGCCTCCCCAGCTCTGTCCCTGTCCCCCCTGCCCCTCC... | pathogenic | 144,269 |
Benign or pathogenic: chromosome 9, position 35738147, gene GBA2 (glucosylceramidase beta 2) variant? Disease(s) if pathogenic? | pathogenic; ['GBA2-related_disorder', 'Hereditary_spastic_paraplegia_46', 'Spastic_paraplegia'] | AAACAAAACCAGCAGCAGCAGCACCTGCATCTTGGTGAGGATGGTGATGAGGGGAGAAATCCTTTTCTCAGTTGGTGGGGACAGGGCAATCCAGAGCCCTTCTTCATCTCCTTTTTCCTGTGCTCTAGGTCCTACTAGTCTCCTTCTGCCTCCTCCTTGTACCTGCTATGTACTCCTCTGACACAAGGGGGAGCCTGCCAGCTGAGCATGGAGGTAAGAGGCTTAAGGATAGCTCTCAGACAGGGCAAGGGGAGAGGTCTGGGTTGGCCTCTGAAGATTCTTTGTCTCCTCAGTGTTGTCCCGCCAGCTTCGTGCCCTCC... | AAACAAAACCAGCAGCAGCAGCACCTGCATCTTGGTGAGGATGGTGATGAGGGGAGAAATCCTTTTCTCAGTTGGTGGGGACAGGGCAATCCAGAGCCCTTCTTCATCTCCTTTTTCCTGTGCTCTAGGTCCTACTAGTCTCCTTCTGCCTCCTCCTTGTACCTGCTATGTACTCCTCTGACACAAGGGGGAGCCTGCCAGCTGAGCATGGAGGTAAGAGGCTTAAGGATAGCTCTCAGACAGGGCAAGGGGAGAGGTCTGGGTTGGCCTCTGAAGATTCTTTGTCTCCTCAGTGTTGTCCCGCCAGCTTCGTGCCCTCC... | pathogenic | 144,288 |
Located at chromosome 9 position 35739118, the variant affecting gene GBA2 (glucosylceramidase beta 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTCCTGATGGCTCAGGGTTGCAGGAGGTTCAGAGGGGAAGGAGGAAAGGCCAGGCTGGAGGCTGGGCTGTTAGCACTTCCCTCCCACAGTTCAGACGGCTCACTCTGGGCTCAGGTTTGCCATGGCTTCCTTTGGTCCAAACATAGGCCCTGTCCTTAGTCCTGTGCCCTGTTTGACTTTTGGCCAGGAGGCCTTTTTGTGCTGCTGCTGTTGCAGGGCTAGCTGCATGGCCCATATGCTCAGTGGCCGCATGTAGGCCAGTGAGCGGAACACTCGCTGCTGGCAGTATGCCTCTGGGGTCTGGAAGGCCAGACCCAGGC... | GTCCTGATGGCTCAGGGTTGCAGGAGGTTCAGAGGGGAAGGAGGAAAGGCCAGGCTGGAGGCTGGGCTGTTAGCACTTCCCTCCCACAGTTCAGACGGCTCACTCTGGGCTCAGGTTTGCCATGGCTTCCTTTGGTCCAAACATAGGCCCTGTCCTTAGTCCTGTGCCCTGTTTGACTTTTGGCCAGGAGGCCTTTTTGTGCTGCTGCTGTTGCAGGGCTAGCTGCATGGCCCATATGCTCAGTGGCCGCATGTAGGCCAGTGAGCGGAACACTCGCTGCTGGCAGTATGCCTCTGGGGTCTGGAAGGCCAGACCCAGGC... | benign | 144,291 |
Benign or pathogenic: chromosome 9, position 35807028, gene NPR2 (natriuretic peptide receptor 2) variant? Disease(s) if pathogenic? | pathogenic; ['Acromesomelic_dysplasia_1,_Maroteaux_type', 'Tall_stature-scoliosis-macrodactyly_of_the_great_toes_syndrome'] | ACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACTTGCCCACCTACGCCTGGTTATGCATTAAAGTTTACAACTGGTCTTCCTTGGTATATCCAGCTACTCTTGATACCTGGGTCTCAAGTCATGTCTTCCTAATTAGTAGCCAGGTATCTGAGGCCACCATGGGTGTTATATCATTTTGGTCTTCACCCAAGTTCTGTTCTCTTCACTAATCAAGAAGATTGACTGCCCTCTCCAGGGTAGTCATTTGTAGCTCCACTTATCCCTCTTTTTAAGCATTTTCCCTGTCCCTGGTGGCTGGG... | ACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCCTCCTCTACCCCGACTTGCCCACCTACGCCTGGTTATGCATTAAAGTTTACAACTGGTCTTCCTTGGTATATCCAGCTACTCTTGATACCTGGGTCTCAAGTCATGTCTTCCTAATTAGTAGCCAGGTATCTGAGGCCACCATGGGTGTTATATCATTTTGGTCTTCACCCAAGTTCTGTTCTCTTCACTAATCAAGAAGATTGACTGCCCTCTCCAGGGTAGTCATTTGTAGCTCCACTTATCCCTCTTTTTAAGCATTTTCCCTGTCCCTGGTGGCTGGG... | pathogenic | 144,344 |
The chromosome 9, position 35807404 genetic variant in gene NPR2 (natriuretic peptide receptor 2): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CCTTGGGTGGAAACTGCAAAGGATGCCTTCCAAAATCAGCTTATTATTTTTGTGGACCCAAGATCTGTAGACAGCTAGCCAGTGCCCATCTCATGGAGAGAGGGTATTCTAAGCCAGATATGATCCAATCCCATGACTTGATCTGTACCCTGCAGGGCATGGCCTTTCTCCACAACAGCATTATTTCATCGCATGGGAGTCTCAAGTCCTCCAACTGTGTGGTGGATAGTCGTTTTGTGCTCAAAATCACAGACTATGGCCTGGCCAGCTTCCGATCAACTGCTGAACCTGATGACAGCCATGCCCTCTATGCCAGTGAG... | CCTTGGGTGGAAACTGCAAAGGATGCCTTCCAAAATCAGCTTATTATTTTTGTGGACCCAAGATCTGTAGACAGCTAGCCAGTGCCCATCTCATGGAGAGAGGGTATTCTAAGCCAGATATGATCCAATCCCATGACTTGATCTGTACCCTGCAGGGCATGGCCTTTCTCCACAACAGCATTATTTCATCGCATGGGAGTCTCAAGTCCTCCAACTGTGTGGTGGATAGTCGTTTTGTGCTCAAAATCACAGACTATGGCCTGGCCAGCTTCCGATCAACTGCTGAACCTGATGACAGCCATGCCCTCTATGCCAGTGAG... | benign | 144,346 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 36217082, gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase): what disease(s) if pathogenic? | benign | TGTCACTAGGGCCAGGTGTGATGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTACTAAAAATACAAAAAAAAATCAGCCGGGCGTGGTGCATGTGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACTTGGGGGGCAGAGGTTGCATTGAGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCGTCTCAAAAAAATAGAACACCTGTCACTAGACCAAATACTATACT... | TGTCACTAGGGCCAGGTGTGATGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTACTAAAAATACAAAAAAAAATCAGCCGGGCGTGGTGCATGTGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACTTGGGGGGCAGAGGTTGCATTGAGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCGTCTCAAAAAAATAGAACACCTGTCACTAGACCAAATACTATACT... | benign | 144,377 |
Evaluate this variant at chromosome 9, position 36219860, gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['GNE_myopathy', 'Sialuria', 'Thrombocytopenia_12_with_or_without_myopathy'] | ATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATAT... | ATGATCTCCACTAGGCAAAAAAATGAATAGAAAGACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATAT... | pathogenic | 144,390 |
A genetic alteration at chromosome 9, position 36219913, in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['GNE_myopathy', 'Sialuria'] | AGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCT... | AGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCT... | pathogenic | 144,394 |
Mutation at chromosome 9, position 36219938, within GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['GNE_myopathy', 'Sialuria'] | TAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCG... | TAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCG... | pathogenic | 144,395 |
For chromosome 9, position 36219967, gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['GNE_myopathy', 'Sialuria', 'Thrombocytopenia_12_with_or_without_myopathy'] | ATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGA... | ATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGA... | pathogenic | 144,397 |
Chromosome 9, position 36220010, gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['GNE_myopathy', 'Sialuria'] | AGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTT... | AGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCATTGCCAAGTTTCGCAGCTTGGATGAGATGGAGCGCACCCACAGCCTCATCTTTTGGCACTGACATCCCTT... | pathogenic | 144,398 |
For chromosome 9, position 36222865, gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['GNE_myopathy'] | GCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAAC... | GCGTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAAC... | pathogenic | 144,404 |
A genetic variant at chromosome 9, position 36222867, affecting gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['GNE_myopathy', 'Sialuria'] | GTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGT... | GTTTAGCAGTTACAAAGGAGTAAAGGGTATTGTGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGT... | pathogenic | 144,405 |
Determine whether the variant at chromosome 9, position 36222899, in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['GNE_myopathy', 'Sialuria'] | TGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAA... | TGCCTGAGAAGGCTCTGCTTTTAAGGGTTGTCTTGCCATCTGTCACTTCTTGGGCACTTATTCCTCAACCCCTAGCCCTCTGATTTACAGCTTAGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAA... | pathogenic | 144,409 |
Clinical classification of chromosome 9, position 36222992, gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['GNE_myopathy', 'Sialuria'] | AGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAG... | AGTCACTGCTCTGAGCCAGGAAATGGTATCCAAGTTTGCTAAAACTGTGTCTGGAACTAAAAGAGGATGAGCATGAGCTAAAGTACATGAGCTTAGGCTGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAAGCCAGAAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCTTGTCTCTACTAAAAATACAGAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCCATTTGGGAGGCTGAGGCAGGGGAATCACTTGAATCTGGGAGGCAGTGAGCTGAG... | pathogenic | 144,411 |
Mutation at chromosome 9, position 36227308, within GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['GNE_myopathy', 'Sialuria'] | CTTTCCATTTATATTATTTTGTTATTAGTGGATTTTTATATCTCAAATATAGGGTTAGAGCTGTCACTAGGATTGTCATTAAAAATAAATCTAGGTCAGGCACGGTCGCTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCTGGCAGATCCCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAACCACTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGCTGGCATAAGCCTGTAGTCCCATCTACTCAGGAGGCTGAAGCACAAAAATCACTTGAGCCCGGGAGGCAGAGGTTGCAGTG... | CTTTCCATTTATATTATTTTGTTATTAGTGGATTTTTATATCTCAAATATAGGGTTAGAGCTGTCACTAGGATTGTCATTAAAAATAAATCTAGGTCAGGCACGGTCGCTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCTGGCAGATCCCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAACCACTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGCTGGCATAAGCCTGTAGTCCCATCTACTCAGGAGGCTGAAGCACAAAAATCACTTGAGCCCGGGAGGCAGAGGTTGCAGTG... | pathogenic | 144,420 |
Determine if the mutation at chromosome 9, position 36227370 in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['GNE_myopathy'] | GTCACTAGGATTGTCATTAAAAATAAATCTAGGTCAGGCACGGTCGCTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCTGGCAGATCCCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAACCACTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGCTGGCATAAGCCTGTAGTCCCATCTACTCAGGAGGCTGAAGCACAAAAATCACTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAC... | GTCACTAGGATTGTCATTAAAAATAAATCTAGGTCAGGCACGGTCGCTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCTGGCAGATCCCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAACCACTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGCTGGCATAAGCCTGTAGTCCCATCTACTCAGGAGGCTGAAGCACAAAAATCACTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAC... | pathogenic | 144,421 |
Is the genetic mutation found on chromosome 9 at position 36227398, within the gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['GNE_myopathy', 'Sialuria'] | CTAGGTCAGGCACGGTCGCTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCTGGCAGATCCCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAACCACTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGCTGGCATAAGCCTGTAGTCCCATCTACTCAGGAGGCTGAAGCACAAAAATCACTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAACAAAAATACATCTAGAGCTGGGCACAGTG... | CTAGGTCAGGCACGGTCGCTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCTGGCAGATCCCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAACCACTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGCTGGCATAAGCCTGTAGTCCCATCTACTCAGGAGGCTGAAGCACAAAAATCACTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAACAAAAATACATCTAGAGCTGGGCACAGTG... | pathogenic | 144,424 |
Chromosome 9, position 36233940, gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | CTCAAACTTCACATAGCTATAAGAGAACTCTTAATTCAATCCCTCCCCAAATCTGTTCCTCCCTCAGTGTCCCCATATCGCTGCCCAATCAGAAATCTAGGCTGTAATGGAAAAGTGTGTATCATTAAAGGAAAAAGAACTGGACTAGAACCAAGGAGATTAGTTCTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTAC... | CTCAAACTTCACATAGCTATAAGAGAACTCTTAATTCAATCCCTCCCCAAATCTGTTCCTCCCTCAGTGTCCCCATATCGCTGCCCAATCAGAAATCTAGGCTGTAATGGAAAAGTGTGTATCATTAAAGGAAAAAGAACTGGACTAGAACCAAGGAGATTAGTTCTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTAC... | pathogenic | 144,428 |
Does the genetic variant at chromosome 9, position 36236873, impacting gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['GNE_myopathy', 'Sialuria'] | ATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGT... | ATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGT... | pathogenic | 144,439 |
Considering the variant on chromosome 9, location 36236906, involving gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['GNE_myopathy', 'Sialuria'] | TTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGA... | TTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGA... | pathogenic | 144,440 |
Is the genetic change at chromosome 9, position 36236920, within gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['GNE_myopathy', 'Sialuria'] | ATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCC... | ATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCC... | pathogenic | 144,441 |
A genetic variant at chromosome 9, position 36236964, affecting gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['GNE_myopathy', 'Sialuria'] | GGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACAC... | GGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCTTTGAGCGTCATATTGGTGCTCAAAAAGTTTGAGATTTTGGAGCATTTCAGATTCCAGATTTTTTGATTAGGGATACTCAAACTGTAGTACATGGCACAC... | pathogenic | 144,444 |
Variant at chromosome position 36246029, chromosome 9, gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['GNE_myopathy'] | TGAGACAGGGTCTTACTCTGTCACCCAGGCTAGAGTGCAGCAGTGTAATCACAGATCACTGTAGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATT... | TGAGACAGGGTCTTACTCTGTCACCCAGGCTAGAGTGCAGCAGTGTAATCACAGATCACTGTAGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATT... | pathogenic | 144,448 |
Gene mutation in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) at chromosome 9, position 36246042—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['GNE_myopathy', 'Sialuria'] | TACTCTGTCACCCAGGCTAGAGTGCAGCAGTGTAATCACAGATCACTGTAGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCC... | TACTCTGTCACCCAGGCTAGAGTGCAGCAGTGTAATCACAGATCACTGTAGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCC... | pathogenic | 144,450 |
Gene mutation in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) at chromosome 9, position 36246175—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['GNE_myopathy', 'Sialuria'] | CTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAA... | CTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAA... | pathogenic | 144,457 |
Mutation at chromosome 9, position 36246248, within GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['GNE_myopathy', 'Sialuria'] | AGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAG... | AGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAG... | pathogenic | 144,459 |
Classify the chromosome 9 variant at position 36246258 affecting gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['GNE_myopathy', 'Sialuria'] | CCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTA... | CCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTA... | pathogenic | 144,460 |
The mutation impacting GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on chromosome 9 at position 36246424: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['GNE_myopathy', 'Sialuria'] | TACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTATGACTTTTGCTTTTTAATAATCATCATAATCCCTTATATTAATAAGTACTTATGGCTTACTGCTTCCAACATTCATAATCTGAGTATTCCAACAATTCTATAAGAAAAGCATTAAAAATAAAAATGAGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTT... | TACTATAAATTAACCAACTGACATTCTGTTTGTAAACTTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTATGACTTTTGCTTTTTAATAATCATCATAATCCCTTATATTAATAAGTACTTATGGCTTACTGCTTCCAACATTCATAATCTGAGTATTCCAACAATTCTATAAGAAAAGCATTAAAAATAAAAATGAGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTT... | pathogenic | 144,465 |
Clinically, how would you classify the variant at chromosome 9, position 36246461, gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['GNE_myopathy', 'Sialuria'] | TTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTATGACTTTTGCTTTTTAATAATCATCATAATCCCTTATATTAATAAGTACTTATGGCTTACTGCTTCCAACATTCATAATCTGAGTATTCCAACAATTCTATAAGAAAAGCATTAAAAATAAAAATGAGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATTATGAGGTCAGGAGTT... | TTGGATTTTTTTACCTCTGATTAGCAAAAGATAATTTCTAGGAAGCTAGAGCACTGAACAATAAAAATTTTGGAACATAGGGCTTATTTACAAAGATATACTCTAAGGCTACAACTATGACTTTTGCTTTTTAATAATCATCATAATCCCTTATATTAATAAGTACTTATGGCTTACTGCTTCCAACATTCATAATCTGAGTATTCCAACAATTCTATAAGAAAAGCATTAAAAATAAAAATGAGCCAGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATTATGAGGTCAGGAGTT... | pathogenic | 144,466 |
A genetic variant at chromosome 9, position 37424860, affecting gene GRHPR (glyoxylate and hydroxypyruvate reductase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Primary_hyperoxaluria,_type_II'] | TCGCGCTCGCCCGGGCGGCAGAGTAAGAGCCTCGCGCGCCGTGGAGGAGGGAGCAGGGCGGTCCCAGGGACCGGAGAGCCGGGCGGGGCGTTTGGGCCTTGTGGCCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGG... | TCGCGCTCGCCCGGGCGGCAGAGTAAGAGCCTCGCGCGCCGTGGAGGAGGGAGCAGGGCGGTCCCAGGGACCGGAGAGCCGGGCGGGGCGTTTGGGCCTTGTGGCCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGG... | pathogenic | 144,570 |
Does the variant on chromosome 9 at location 37424860 affecting gene GRHPR (glyoxylate and hydroxypyruvate reductase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Primary_hyperoxaluria,_type_II'] | TCGCGCTCGCCCGGGCGGCAGAGTAAGAGCCTCGCGCGCCGTGGAGGAGGGAGCAGGGCGGTCCCAGGGACCGGAGAGCCGGGCGGGGCGTTTGGGCCTTGTGGCCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGG... | TCGCGCTCGCCCGGGCGGCAGAGTAAGAGCCTCGCGCGCCGTGGAGGAGGGAGCAGGGCGGTCCCAGGGACCGGAGAGCCGGGCGGGGCGTTTGGGCCTTGTGGCCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGG... | pathogenic | 144,571 |
Chromosome 9, position 37424861, gene GRHPR (glyoxylate and hydroxypyruvate reductase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Nephrocalcinosis', 'Nephrolithiasis', 'Primary_hyperoxaluria,_type_II'] | CGCGCTCGCCCGGGCGGCAGAGTAAGAGCCTCGCGCGCCGTGGAGGAGGGAGCAGGGCGGTCCCAGGGACCGGAGAGCCGGGCGGGGCGTTTGGGCCTTGTGGCCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGGG... | CGCGCTCGCCCGGGCGGCAGAGTAAGAGCCTCGCGCGCCGTGGAGGAGGGAGCAGGGCGGTCCCAGGGACCGGAGAGCCGGGCGGGGCGTTTGGGCCTTGTGGCCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGGG... | pathogenic | 144,572 |
Is the variant located on chromosome 9 at position 37424910, gene GRHPR (glyoxylate and hydroxypyruvate reductase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Primary_hyperoxaluria,_type_II'] | GAGCAGGGCGGTCCCAGGGACCGGAGAGCCGGGCGGGGCGTTTGGGCCTTGTGGCCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGGGCTTTGATGACTCTTCTTCTTTATATTTACTTATCTTTTTTTTTTTTTTT... | GAGCAGGGCGGTCCCAGGGACCGGAGAGCCGGGCGGGGCGTTTGGGCCTTGTGGCCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGGGCTTTGATGACTCTTCTTCTTTATATTTACTTATCTTTTTTTTTTTTTTT... | pathogenic | 144,577 |
For chromosome 9, position 37424962, gene GRHPR (glyoxylate and hydroxypyruvate reductase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Primary_hyperoxaluria,_type_II'] | GGCCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGGGCTTTGATGACTCTTCTTCTTTATATTTACTTATCTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGCTGCACAGGCTGGAGTGCAGTGGCTCGATCGAT... | GGCCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGGGCTTTGATGACTCTTCTTCTTTATATTTACTTATCTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGCTGCACAGGCTGGAGTGCAGTGGCTCGATCGAT... | pathogenic | 144,579 |
Considering the genetic mutation at chromosome 9, position 37425932, impacting GRHPR (glyoxylate and hydroxypyruvate reductase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Primary_hyperoxaluria,_type_II'] | ACAGATTAAAAACTGGAGGCTGGACTTAGGGTTAAGTTTCTTCCCAAAGCCATGCAGCTCCCAGGTGGAGGAGCTGGGGCTTGTACTCAGAAGTGTCTGACTGCTGTCTGATCACTGCATTTGATCAGGTTTGTGTTTCCAATGTTAGATAGGAAGAGGATGCAATCCAGCCTCAGCAGCCAGTTCTAGGGGCATATGAGATTTTCAAATTTTGTTCACTGCAACAAAACCTTTGCCAAGGACCCACTTTGTACTGAGCAGGAGAAGGTGGAAGGCAGCAACCGCGCCCATGGTAACAGTAGCTCACGCTGTACCCTGCT... | ACAGATTAAAAACTGGAGGCTGGACTTAGGGTTAAGTTTCTTCCCAAAGCCATGCAGCTCCCAGGTGGAGGAGCTGGGGCTTGTACTCAGAAGTGTCTGACTGCTGTCTGATCACTGCATTTGATCAGGTTTGTGTTTCCAATGTTAGATAGGAAGAGGATGCAATCCAGCCTCAGCAGCCAGTTCTAGGGGCATATGAGATTTTCAAATTTTGTTCACTGCAACAAAACCTTTGCCAAGGACCCACTTTGTACTGAGCAGGAGAAGGTGGAAGGCAGCAACCGCGCCCATGGTAACAGTAGCTCACGCTGTACCCTGCT... | pathogenic | 144,582 |
For chromosome 9, position 37425964, gene GRHPR (glyoxylate and hydroxypyruvate reductase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Primary_hyperoxaluria,_type_II'] | TAAGTTTCTTCCCAAAGCCATGCAGCTCCCAGGTGGAGGAGCTGGGGCTTGTACTCAGAAGTGTCTGACTGCTGTCTGATCACTGCATTTGATCAGGTTTGTGTTTCCAATGTTAGATAGGAAGAGGATGCAATCCAGCCTCAGCAGCCAGTTCTAGGGGCATATGAGATTTTCAAATTTTGTTCACTGCAACAAAACCTTTGCCAAGGACCCACTTTGTACTGAGCAGGAGAAGGTGGAAGGCAGCAACCGCGCCCATGGTAACAGTAGCTCACGCTGTACCCTGCTCATGGGGAGGTGGATGAAAGGTGGTCAGTGCC... | TAAGTTTCTTCCCAAAGCCATGCAGCTCCCAGGTGGAGGAGCTGGGGCTTGTACTCAGAAGTGTCTGACTGCTGTCTGATCACTGCATTTGATCAGGTTTGTGTTTCCAATGTTAGATAGGAAGAGGATGCAATCCAGCCTCAGCAGCCAGTTCTAGGGGCATATGAGATTTTCAAATTTTGTTCACTGCAACAAAACCTTTGCCAAGGACCCACTTTGTACTGAGCAGGAGAAGGTGGAAGGCAGCAACCGCGCCCATGGTAACAGTAGCTCACGCTGTACCCTGCTCATGGGGAGGTGGATGAAAGGTGGTCAGTGCC... | pathogenic | 144,585 |
Mutation found at chromosome 9 position 37425976, gene GRHPR (glyoxylate and hydroxypyruvate reductase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Primary_hyperoxaluria,_type_II'] | CAAAGCCATGCAGCTCCCAGGTGGAGGAGCTGGGGCTTGTACTCAGAAGTGTCTGACTGCTGTCTGATCACTGCATTTGATCAGGTTTGTGTTTCCAATGTTAGATAGGAAGAGGATGCAATCCAGCCTCAGCAGCCAGTTCTAGGGGCATATGAGATTTTCAAATTTTGTTCACTGCAACAAAACCTTTGCCAAGGACCCACTTTGTACTGAGCAGGAGAAGGTGGAAGGCAGCAACCGCGCCCATGGTAACAGTAGCTCACGCTGTACCCTGCTCATGGGGAGGTGGATGAAAGGTGGTCAGTGCCCTGGGCTCAGTC... | CAAAGCCATGCAGCTCCCAGGTGGAGGAGCTGGGGCTTGTACTCAGAAGTGTCTGACTGCTGTCTGATCACTGCATTTGATCAGGTTTGTGTTTCCAATGTTAGATAGGAAGAGGATGCAATCCAGCCTCAGCAGCCAGTTCTAGGGGCATATGAGATTTTCAAATTTTGTTCACTGCAACAAAACCTTTGCCAAGGACCCACTTTGTACTGAGCAGGAGAAGGTGGAAGGCAGCAACCGCGCCCATGGTAACAGTAGCTCACGCTGTACCCTGCTCATGGGGAGGTGGATGAAAGGTGGTCAGTGCCCTGGGCTCAGTC... | pathogenic | 144,586 |
Is the chromosome 9, position 37426652 variant in GRHPR (glyoxylate and hydroxypyruvate reductase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Primary_hyperoxaluria,_type_II'] | GAGAGCTGTCCCCATGCCTTCCCCCTTGCAGCTTAGGCTCTGCTGGGGGGCCCCTCAGCCCTTCACCTGTCACCTGCTGTCTCGGGACAGTTCTGAGACCACCCCTGCCTGACCCTGCCTCCCCTCAGCCAGCCCCGGGCAGCCTGAGGCCAGGGCCATCAGAGGCCAGGATTCCCAGCTGGGAGGGGCGGGGACAGGTGTGCGGCTCCTGCTTCTCCTGAGGGCCTCCCTTTCCCCGCAGCTGTGAGGTGGAGCAGTGGGACTCGGATGAGCCCATCCCTGCCAAGGAGCTAGAGCGAGGTGTGGCGGGGGCCCACGGC... | GAGAGCTGTCCCCATGCCTTCCCCCTTGCAGCTTAGGCTCTGCTGGGGGGCCCCTCAGCCCTTCACCTGTCACCTGCTGTCTCGGGACAGTTCTGAGACCACCCCTGCCTGACCCTGCCTCCCCTCAGCCAGCCCCGGGCAGCCTGAGGCCAGGGCCATCAGAGGCCAGGATTCCCAGCTGGGAGGGGCGGGGACAGGTGTGCGGCTCCTGCTTCTCCTGAGGGCCTCCCTTTCCCCGCAGCTGTGAGGTGGAGCAGTGGGACTCGGATGAGCCCATCCCTGCCAAGGAGCTAGAGCGAGGTGTGGCGGGGGCCCACGGC... | pathogenic | 144,598 |
The chromosome 9, position 37428515 genetic variant in gene GRHPR (glyoxylate and hydroxypyruvate reductase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Primary_hyperoxaluria,_type_II'] | GAAATGTCCCAGCAGTAGACATTGGTAAATATGGTTGAGGCTGATGTTACCACCAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTTACCACCTGCCGCCGGTTGCCGGAGGCCATCGAGGAAGTGAAGAAGTAAGTGAACGCAGACCAGGTGCGGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGCGGATCATGAGGTTAGGAGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCGTCTCTAGTA... | GAAATGTCCCAGCAGTAGACATTGGTAAATATGGTTGAGGCTGATGTTACCACCAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTTACCACCTGCCGCCGGTTGCCGGAGGCCATCGAGGAAGTGAAGAAGTAAGTGAACGCAGACCAGGTGCGGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGCGGATCATGAGGTTAGGAGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCGTCTCTAGTA... | pathogenic | 144,602 |
Is the genetic change at chromosome 9, position 37428532, within gene GRHPR (glyoxylate and hydroxypyruvate reductase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Primary_hyperoxaluria,_type_II'] | GACATTGGTAAATATGGTTGAGGCTGATGTTACCACCAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTTACCACCTGCCGCCGGTTGCCGGAGGCCATCGAGGAAGTGAAGAAGTAAGTGAACGCAGACCAGGTGCGGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGCGGATCATGAGGTTAGGAGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAAAAAATT... | GACATTGGTAAATATGGTTGAGGCTGATGTTACCACCAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTTACCACCTGCCGCCGGTTGCCGGAGGCCATCGAGGAAGTGAAGAAGTAAGTGAACGCAGACCAGGTGCGGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGCGGATCATGAGGTTAGGAGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAAAAAATT... | pathogenic | 144,603 |
A genetic variant at chromosome 9, position 37429753, affecting gene GRHPR (glyoxylate and hydroxypyruvate reductase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Primary_hyperoxaluria,_type_II'] | TTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTC... | TTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTC... | pathogenic | 144,614 |
Variant on chromosome 9, at position 37429825, affecting GRHPR (glyoxylate and hydroxypyruvate reductase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_hyperoxaluria,_type_II'] | GCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGGTGGCTCAGGGCAGGCTCCATCTCTTGCCCAGGGCAGCAGGGTGGGCCCTGTGGCT... | GCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGGTGGCTCAGGGCAGGCTCCATCTCTTGCCCAGGGCAGCAGGGTGGGCCCTGTGGCT... | pathogenic | 144,616 |
Is the genetic mutation found on chromosome 9 at position 37429828, within the gene GRHPR (glyoxylate and hydroxypyruvate reductase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_hyperoxaluria,_type_II'] | GTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGGTGGCTCAGGGCAGGCTCCATCTCTTGCCCAGGGCAGCAGGGTGGGCCCTGTGGCTGTA... | GTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGGTGGCTCAGGGCAGGCTCCATCTCTTGCCCAGGGCAGCAGGGTGGGCCCTGTGGCTGTA... | pathogenic | 144,617 |
Is the genetic mutation found on chromosome 9 at position 37429832, within the gene GRHPR (glyoxylate and hydroxypyruvate reductase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_hyperoxaluria,_type_II'] | ACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGGTGGCTCAGGGCAGGCTCCATCTCTTGCCCAGGGCAGCAGGGTGGGCCCTGTGGCTGTACTCT... | ACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCTCACTGTCCTGTCTGGGGAGTCATCACATCTACTGGAGGTGGCTCAGGGCAGGCTCCATCTCTTGCCCAGGGCAGCAGGGTGGGCCCTGTGGCTGTACTCT... | pathogenic | 144,618 |
Does the chromosome 9 mutation at position 37430519 within gene GRHPR (glyoxylate and hydroxypyruvate reductase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Primary_hyperoxaluria,_type_II'] | TCTCTCCCCTCAGTGGTGGCTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGC... | TCTCTCCCCTCAGTGGTGGCTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGC... | pathogenic | 144,620 |
The mutation in gene GRHPR (glyoxylate and hydroxypyruvate reductase) at chromosome 9, position 37430526—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Primary_hyperoxaluria,_type_II'] | CCTCAGTGGTGGCTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGC... | CCTCAGTGGTGGCTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGC... | pathogenic | 144,621 |
Does the genetic variant at chromosome 9, position 37430604, impacting gene GRHPR (glyoxylate and hydroxypyruvate reductase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Primary_hyperoxaluria,_type_II'] | CGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGCCTAAGGGTCAGGGGGCTTCATGATTCCGGCTCCATAAAGAACAGATGAAGACTACAAATGTGTTGGGGCCGTTAGGAG... | CGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGCCTAAGGGTCAGGGGGCTTCATGATTCCGGCTCCATAAAGAACAGATGAAGACTACAAATGTGTTGGGGCCGTTAGGAG... | pathogenic | 144,624 |
A genetic variant at chromosome 9, position 37432005, affecting gene GRHPR (glyoxylate and hydroxypyruvate reductase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Primary_hyperoxaluria,_type_II'] | GTCTGGTAGATGTTTAATCTACCTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTC... | GTCTGGTAGATGTTTAATCTACCTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTC... | pathogenic | 144,628 |
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