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 |
|---|---|---|---|---|---|
Variant on chromosome 17, at position 47287151, affecting ITGB3 (integrin subunit beta 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | AGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAG... | AGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAG... | pathogenic | 277,833 |
Chromosome 17, position 47287175, gene ITGB3 (integrin subunit beta 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | AAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTC... | AAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTC... | pathogenic | 277,837 |
Clinically, how would you classify the variant at chromosome 17, position 47289770, gene ITGB3 (integrin subunit beta 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Glanzmann_thrombasthenia'] | AATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAG... | AATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAG... | pathogenic | 277,850 |
The mutation impacting ITGB3 (integrin subunit beta 3) on chromosome 17 at position 47290953: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glanzmann_thrombasthenia'] | AAGGGAGGAAAGGTCATCATGAGCTGGGATGGCCAAGGAAGTCTCCTGAAGAAGGTGGGGGCTAAGCTAGGCCCTAAGAAAGGAGGAGGATTACCAACAAGAAGGCCACTCCAGGTGGGAGACAGTGGGCCAGATCACTGCTGAGTGGAAGAGGGAGAGAGGTGAGCAATATTTGGAAAGAAAGACTGAGACCACACGGTGGAGGATCACGAGGGCCAGGCCAAGGCATTTGTCAGTAGTTCCAAAACAGAGGCCTAACCCAGTCCCTTGTGCACGGAAGCAGCTCCATAGTATTAGTGCATTAAATTCAAGCAGGAAGA... | AAGGGAGGAAAGGTCATCATGAGCTGGGATGGCCAAGGAAGTCTCCTGAAGAAGGTGGGGGCTAAGCTAGGCCCTAAGAAAGGAGGAGGATTACCAACAAGAAGGCCACTCCAGGTGGGAGACAGTGGGCCAGATCACTGCTGAGTGGAAGAGGGAGAGAGGTGAGCAATATTTGGAAAGAAAGACTGAGACCACACGGTGGAGGATCACGAGGGCCAGGCCAAGGCATTTGTCAGTAGTTCCAAAACAGAGGCCTAACCCAGTCCCTTGTGCACGGAAGCAGCTCCATAGTATTAGTGCATTAAATTCAAGCAGGAAGA... | pathogenic | 277,859 |
Variant on chromosome 17, at position 47291011, affecting ITGB3 (integrin subunit beta 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GGGCTAAGCTAGGCCCTAAGAAAGGAGGAGGATTACCAACAAGAAGGCCACTCCAGGTGGGAGACAGTGGGCCAGATCACTGCTGAGTGGAAGAGGGAGAGAGGTGAGCAATATTTGGAAAGAAAGACTGAGACCACACGGTGGAGGATCACGAGGGCCAGGCCAAGGCATTTGTCAGTAGTTCCAAAACAGAGGCCTAACCCAGTCCCTTGTGCACGGAAGCAGCTCCATAGTATTAGTGCATTAAATTCAAGCAGGAAGAAAGAGGTGCTTAGTTTTGACACCACTGGCCTGTACCTCTTCGTCTATCCCTGGAGTTC... | GGGCTAAGCTAGGCCCTAAGAAAGGAGGAGGATTACCAACAAGAAGGCCACTCCAGGTGGGAGACAGTGGGCCAGATCACTGCTGAGTGGAAGAGGGAGAGAGGTGAGCAATATTTGGAAAGAAAGACTGAGACCACACGGTGGAGGATCACGAGGGCCAGGCCAAGGCATTTGTCAGTAGTTCCAAAACAGAGGCCTAACCCAGTCCCTTGTGCACGGAAGCAGCTCCATAGTATTAGTGCATTAAATTCAAGCAGGAAGAAAGAGGTGCTTAGTTTTGACACCACTGGCCTGTACCTCTTCGTCTATCCCTGGAGTTC... | pathogenic | 277,862 |
Chromosome 17, position 47291019, gene ITGB3 (integrin subunit beta 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glanzmann_thrombasthenia'] | CTAGGCCCTAAGAAAGGAGGAGGATTACCAACAAGAAGGCCACTCCAGGTGGGAGACAGTGGGCCAGATCACTGCTGAGTGGAAGAGGGAGAGAGGTGAGCAATATTTGGAAAGAAAGACTGAGACCACACGGTGGAGGATCACGAGGGCCAGGCCAAGGCATTTGTCAGTAGTTCCAAAACAGAGGCCTAACCCAGTCCCTTGTGCACGGAAGCAGCTCCATAGTATTAGTGCATTAAATTCAAGCAGGAAGAAAGAGGTGCTTAGTTTTGACACCACTGGCCTGTACCTCTTCGTCTATCCCTGGAGTTCACAAGTAG... | CTAGGCCCTAAGAAAGGAGGAGGATTACCAACAAGAAGGCCACTCCAGGTGGGAGACAGTGGGCCAGATCACTGCTGAGTGGAAGAGGGAGAGAGGTGAGCAATATTTGGAAAGAAAGACTGAGACCACACGGTGGAGGATCACGAGGGCCAGGCCAAGGCATTTGTCAGTAGTTCCAAAACAGAGGCCTAACCCAGTCCCTTGTGCACGGAAGCAGCTCCATAGTATTAGTGCATTAAATTCAAGCAGGAAGAAAGAGGTGCTTAGTTTTGACACCACTGGCCTGTACCTCTTCGTCTATCCCTGGAGTTCACAAGTAG... | pathogenic | 277,863 |
Does the chromosome 17 mutation at position 47292174 within gene ITGB3 (integrin subunit beta 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Glanzmann_thrombasthenia'] | CTTTTGGAGACCACCAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGAGTCCACCTCATTTGGCTTACACAGCAGGGCTCAGATTTGTGAGTCCCAGTTGCCAGTCTACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTC... | CTTTTGGAGACCACCAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGAGTCCACCTCATTTGGCTTACACAGCAGGGCTCAGATTTGTGAGTCCCAGTTGCCAGTCTACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTC... | pathogenic | 277,868 |
Is the genetic variant on chromosome 17, position 47292282, gene ITGB3 (integrin subunit beta 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Glanzmann_thrombasthenia'] | ATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGAGTCCACCTCATTTGGCTTACACAGCAGGGCTCAGATTTGTGAGTCCCAGTTGCCAGTCTACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAG... | ATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGAGTCCACCTCATTTGGCTTACACAGCAGGGCTCAGATTTGTGAGTCCCAGTTGCCAGTCTACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAG... | pathogenic | 277,874 |
Located at chromosome 17 position 47292285, the variant affecting gene ITGB3 (integrin subunit beta 3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glanzmann_thrombasthenia'] | CCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGAGTCCACCTCATTTGGCTTACACAGCAGGGCTCAGATTTGTGAGTCCCAGTTGCCAGTCTACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGA... | CCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGAGTCCACCTCATTTGGCTTACACAGCAGGGCTCAGATTTGTGAGTCCCAGTTGCCAGTCTACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGA... | pathogenic | 277,875 |
Regarding the variant at chromosome 17 and position 47292333, affecting gene ITGB3 (integrin subunit beta 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glanzmann_thrombasthenia'] | TGTGCTGGGAATAGTCCCGCGGAGAGTCCACCTCATTTGGCTTACACAGCAGGGCTCAGATTTGTGAGTCCCAGTTGCCAGTCTACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGAGGGAAAACTGGGCTCCAATAACAGGGAAAAGAGAGAGCTGAGACATGG... | TGTGCTGGGAATAGTCCCGCGGAGAGTCCACCTCATTTGGCTTACACAGCAGGGCTCAGATTTGTGAGTCCCAGTTGCCAGTCTACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGAGGGAAAACTGGGCTCCAATAACAGGGAAAAGAGAGAGCTGAGACATGG... | pathogenic | 277,878 |
Gene mutation in ITGB3 (integrin subunit beta 3) at chromosome 17, position 47292397—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | TGAGTCCCAGTTGCCAGTCTACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGAGGGAAAACTGGGCTCCAATAACAGGGAAAAGAGAGAGCTGAGACATGGGGAAGGTGAGGTTGATGAAACATTAGGTAGAAAATGCCACTTTCCAAGGTGACCAGTATTGGCA... | TGAGTCCCAGTTGCCAGTCTACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGAGGGAAAACTGGGCTCCAATAACAGGGAAAAGAGAGAGCTGAGACATGGGGAAGGTGAGGTTGATGAAACATTAGGTAGAAAATGCCACTTTCCAAGGTGACCAGTATTGGCA... | pathogenic | 277,882 |
Gene ITGB3 (integrin subunit beta 3) variant at chromosome 17, position 47292402—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Glanzmann_thrombasthenia'] | CCCAGTTGCCAGTCTACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGAGGGAAAACTGGGCTCCAATAACAGGGAAAAGAGAGAGCTGAGACATGGGGAAGGTGAGGTTGATGAAACATTAGGTAGAAAATGCCACTTTCCAAGGTGACCAGTATTGGCACTCCC... | CCCAGTTGCCAGTCTACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGAGGGAAAACTGGGCTCCAATAACAGGGAAAAGAGAGAGCTGAGACATGGGGAAGGTGAGGTTGATGAAACATTAGGTAGAAAATGCCACTTTCCAAGGTGACCAGTATTGGCACTCCC... | pathogenic | 277,883 |
Regarding the variant at chromosome 17 and position 47292416, affecting gene ITGB3 (integrin subunit beta 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glanzmann_thrombasthenia'] | TACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGAGGGAAAACTGGGCTCCAATAACAGGGAAAAGAGAGAGCTGAGACATGGGGAAGGTGAGGTTGATGAAACATTAGGTAGAAAATGCCACTTTCCAAGGTGACCAGTATTGGCACTCCCCTTTTGCAACATCT... | TACCACACGGTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGAGGGAAAACTGGGCTCCAATAACAGGGAAAAGAGAGAGCTGAGACATGGGGAAGGTGAGGTTGATGAAACATTAGGTAGAAAATGCCACTTTCCAAGGTGACCAGTATTGGCACTCCCCTTTTGCAACATCT... | pathogenic | 277,886 |
Mutation at chromosome 17, position 47292425, within ITGB3 (integrin subunit beta 3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGAGGGAAAACTGGGCTCCAATAACAGGGAAAAGAGAGAGCTGAGACATGGGGAAGGTGAGGTTGATGAAACATTAGGTAGAAAATGCCACTTTCCAAGGTGACCAGTATTGGCACTCCCCTTTTGCAACATCTGTGAGGCCT... | GTCTTACTGCCTTCTCCGTGTGCTCCCAGAGCCCAGGCAATGGCCCGCTCTAGAAGGGATGCAGCCTTCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGAGGGAAAACTGGGCTCCAATAACAGGGAAAAGAGAGAGCTGAGACATGGGGAAGGTGAGGTTGATGAAACATTAGGTAGAAAATGCCACTTTCCAAGGTGACCAGTATTGGCACTCCCCTTTTGCAACATCTGTGAGGCCT... | pathogenic | 277,889 |
Evaluate this variant at chromosome 17, position 47292492, gene ITGB3 (integrin subunit beta 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Glanzmann_thrombasthenia'] | TCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGAGGGAAAACTGGGCTCCAATAACAGGGAAAAGAGAGAGCTGAGACATGGGGAAGGTGAGGTTGATGAAACATTAGGTAGAAAATGCCACTTTCCAAGGTGACCAGTATTGGCACTCCCCTTTTGCAACATCTGTGAGGCCTGCAGGAGGGTGTAGCTGGTACATTTTACCCAGACTCACCTAGACGCAAGTGGAGATGGAAAGAGGGA... | TCTGAGAAGGAAGGAAGGAAGGAAGGAAGAGAGAAAGAAGGAAAGAAGATGGGGATGGGGATGGTGATTAGATGGAGAAGGAGCAGAGCCCTGGAATTGTGGGGGCAGAGTGAGGGAAAACTGGGCTCCAATAACAGGGAAAAGAGAGAGCTGAGACATGGGGAAGGTGAGGTTGATGAAACATTAGGTAGAAAATGCCACTTTCCAAGGTGACCAGTATTGGCACTCCCCTTTTGCAACATCTGTGAGGCCTGCAGGAGGGTGTAGCTGGTACATTTTACCCAGACTCACCTAGACGCAAGTGGAGATGGAAAGAGGGA... | pathogenic | 277,895 |
Variant at chromosome 17, position 47299344, gene ITGB3 (integrin subunit beta 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Glanzmann_thrombasthenia'] | GTTACTTAACCTCTCTGACCTCAAAGGGTTGTTATAACAAATGAAAAGGATAACATACTAAAGAACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCAC... | GTTACTTAACCTCTCTGACCTCAAAGGGTTGTTATAACAAATGAAAAGGATAACATACTAAAGAACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCAC... | pathogenic | 277,907 |
Considering the variant on chromosome 17, location 47299401, involving gene ITGB3 (integrin subunit beta 3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glanzmann_thrombasthenia'] | CTAAAGAACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGG... | CTAAAGAACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGG... | pathogenic | 277,911 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 47299407, gene ITGB3 (integrin subunit beta 3): what disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | AACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAG... | AACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAG... | pathogenic | 277,912 |
The chromosome 17, position 47300549 genetic variant in gene ITGB3 (integrin subunit beta 3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | TGTGTGCACTTTCCCTCTCTGCATTTGGAATAACCCCATGCCCTGGATCTCTCCTTTCCTTCTTTCCCTATGCTACAATTTTCCTGTCTTGTGCATGTGCCCTCAGAGCCCTGCTTCTCATCCTGCAAGGTAACACCTAGCTGATTTGAGAAATGGAAGTGGTGGCTGCTTTGTTAGTGGGACGGGACCAGCTCTTCCAAACTGGACCCTATGTTGTTGTCTAACCCAACTGGGTGGCCACGATGACGACAATGGTAGTAGGCCTCTCAGGTCAGGTAGGAGAGGCGAGCAGCGCTGTGTCAGGTCAAAGGGAGAGAGTT... | TGTGTGCACTTTCCCTCTCTGCATTTGGAATAACCCCATGCCCTGGATCTCTCCTTTCCTTCTTTCCCTATGCTACAATTTTCCTGTCTTGTGCATGTGCCCTCAGAGCCCTGCTTCTCATCCTGCAAGGTAACACCTAGCTGATTTGAGAAATGGAAGTGGTGGCTGCTTTGTTAGTGGGACGGGACCAGCTCTTCCAAACTGGACCCTATGTTGTTGTCTAACCCAACTGGGTGGCCACGATGACGACAATGGTAGTAGGCCTCTCAGGTCAGGTAGGAGAGGCGAGCAGCGCTGTGTCAGGTCAAAGGGAGAGAGTT... | pathogenic | 277,929 |
Clinical classification of chromosome 17, position 47302736, gene ITGB3 (integrin subunit beta 3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_2'] | TCAGGGAATGTTGTGCAGGCTTGAGGAACAATGGACACTTGATGTGAGCTGGTGTCTCTGAGAGTTGTCCTCCTCTCTTACTAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCA... | TCAGGGAATGTTGTGCAGGCTTGAGGAACAATGGACACTTGATGTGAGCTGGTGTCTCTGAGAGTTGTCCTCCTCTCTTACTAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCA... | pathogenic | 277,935 |
Evaluate this variant at chromosome 17, position 47302770, gene ITGB3 (integrin subunit beta 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Glanzmann_thrombasthenia'] | ACACTTGATGTGAGCTGGTGTCTCTGAGAGTTGTCCTCCTCTCTTACTAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCAAGATTTTGCTTAAAGCTTTGCAGTTTGGAGGGAA... | ACACTTGATGTGAGCTGGTGTCTCTGAGAGTTGTCCTCCTCTCTTACTAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCAAGATTTTGCTTAAAGCTTTGCAGTTTGGAGGGAA... | pathogenic | 277,936 |
Evaluate if the mutation on chromosome 17 at position 47302817 in ITGB3 (integrin subunit beta 3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia', 'ITGB3-related_disorder'] | TAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCAAGATTTTGCTTAAAGCTTTGCAGTTTGGAGGGAAACCTTCAACCTTATGGATAGGCAACCAAAAGCTTTATCTGAAGTCCT... | TAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCAAGATTTTGCTTAAAGCTTTGCAGTTTGGAGGGAAACCTTCAACCTTATGGATAGGCAACCAAAAGCTTTATCTGAAGTCCT... | pathogenic | 277,939 |
The mutation impacting ITGB3 on chromosome 17 at position 47307523: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glanzmann_thrombasthenia'] | GTTTCATAACACTTGAGGTTACTGGAATAAGATCACCTATTAGATACCTGACATTTGTGGGAAGCAGAGCTCTGCAGAGTATACTCAGCCTGACCCCCAGAGGGGTGACATGCCTCTGTTTTAGTTGTTGACTGGGGTTGAACAGGAAGGCAGCTTTCAATAGGGTTATGATTTTAGATGACTAAGTATTTTGGGAAAGAACCCAAAATATTGTCTTGGCTGGCAGGTCCTGGTCTCTAAGAATGCAAAAAATGTCATTAGGTTCACAGCCCTCAGGAATGTAAATATCTGAACCAGGATAACAGACACAAATACTTACA... | GTTTCATAACACTTGAGGTTACTGGAATAAGATCACCTATTAGATACCTGACATTTGTGGGAAGCAGAGCTCTGCAGAGTATACTCAGCCTGACCCCCAGAGGGGTGACATGCCTCTGTTTTAGTTGTTGACTGGGGTTGAACAGGAAGGCAGCTTTCAATAGGGTTATGATTTTAGATGACTAAGTATTTTGGGAAAGAACCCAAAATATTGTCTTGGCTGGCAGGTCCTGGTCTCTAAGAATGCAAAAAATGTCATTAGGTTCACAGCCCTCAGGAATGTAAATATCTGAACCAGGATAACAGACACAAATACTTACA... | pathogenic | 277,941 |
Variant in gene ITGB3, located at chromosome 17 position 47307552: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | AGATCACCTATTAGATACCTGACATTTGTGGGAAGCAGAGCTCTGCAGAGTATACTCAGCCTGACCCCCAGAGGGGTGACATGCCTCTGTTTTAGTTGTTGACTGGGGTTGAACAGGAAGGCAGCTTTCAATAGGGTTATGATTTTAGATGACTAAGTATTTTGGGAAAGAACCCAAAATATTGTCTTGGCTGGCAGGTCCTGGTCTCTAAGAATGCAAAAAATGTCATTAGGTTCACAGCCCTCAGGAATGTAAATATCTGAACCAGGATAACAGACACAAATACTTACAGTGGCTAAGGAAGCAAATAAGTTAGTGAA... | AGATCACCTATTAGATACCTGACATTTGTGGGAAGCAGAGCTCTGCAGAGTATACTCAGCCTGACCCCCAGAGGGGTGACATGCCTCTGTTTTAGTTGTTGACTGGGGTTGAACAGGAAGGCAGCTTTCAATAGGGTTATGATTTTAGATGACTAAGTATTTTGGGAAAGAACCCAAAATATTGTCTTGGCTGGCAGGTCCTGGTCTCTAAGAATGCAAAAAATGTCATTAGGTTCACAGCCCTCAGGAATGTAAATATCTGAACCAGGATAACAGACACAAATACTTACAGTGGCTAAGGAAGCAAATAAGTTAGTGAA... | pathogenic | 277,944 |
Is the genetic variant on chromosome 17, position 47943412, gene PNPO (pyridoxamine 5'-phosphate oxidase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Pyridoxal_phosphate-responsive_seizures'] | CCGCGGTGACAGCATTTCCTTGTCTCTCTGCTCCCGCCCCCAAAGGCGCTACCCATTGGCCGCTGGGTTCCTCTGTTCTCGCTCTAATTGGCCTCGTTACCGAAAAGCTCCAACCAATGACCTCTCCGTGTCTGTCTCCCTCCTCCGATCCTGGAAACTCATTGGCTCCGAGGACTTAGGACCTGTTAGCTTGGTTGGGCGACTGGCAAATCCTTCCTTCCCCGGGGTAGAAGTCCAGGGTGAGAAATTGGTTCCGAACTCAAAGGAACCCAGTGCCGGGCCACAGCCGGGTCACGTGGCCGGCGGCCCCCCATGACGTG... | CCGCGGTGACAGCATTTCCTTGTCTCTCTGCTCCCGCCCCCAAAGGCGCTACCCATTGGCCGCTGGGTTCCTCTGTTCTCGCTCTAATTGGCCTCGTTACCGAAAAGCTCCAACCAATGACCTCTCCGTGTCTGTCTCCCTCCTCCGATCCTGGAAACTCATTGGCTCCGAGGACTTAGGACCTGTTAGCTTGGTTGGGCGACTGGCAAATCCTTCCTTCCCCGGGGTAGAAGTCCAGGGTGAGAAATTGGTTCCGAACTCAAAGGAACCCAGTGCCGGGCCACAGCCGGGTCACGTGGCCGGCGGCCCCCCATGACGTG... | pathogenic | 277,974 |
Variant at chromosome 17, position 47945887, gene PNPO (pyridoxamine 5'-phosphate oxidase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Pyridoxal_phosphate-responsive_seizures'] | TAGCCTGTTATTCAATTCTCCTCGATAAAGTGTAAGGCCTTGTAGCCAGTGCTCTTGTACTGTGCGAGTGGATATCTCCCAGAGCTCTGAGCAGAGGGGCTGATCTCATAGCACCACTGTGATCCCGAAGCATTGGATGATTGCATTATTGTTAGTCCCTGCCCTTAGGGTCTTATGAATTTGCTAGGGCTGTCTTAACAAAATACTGTAGACTGGATAGCTTAAACAACAGGAGTTTATTTCCTTATAGTTCTGGTGGCTGGAAGTCCAAGATCAAGGTGCCATCAGGGGTGGTTTCTGATGAGGCCTCTGCTTGGGGT... | TAGCCTGTTATTCAATTCTCCTCGATAAAGTGTAAGGCCTTGTAGCCAGTGCTCTTGTACTGTGCGAGTGGATATCTCCCAGAGCTCTGAGCAGAGGGGCTGATCTCATAGCACCACTGTGATCCCGAAGCATTGGATGATTGCATTATTGTTAGTCCCTGCCCTTAGGGTCTTATGAATTTGCTAGGGCTGTCTTAACAAAATACTGTAGACTGGATAGCTTAAACAACAGGAGTTTATTTCCTTATAGTTCTGGTGGCTGGAAGTCCAAGATCAAGGTGCCATCAGGGGTGGTTTCTGATGAGGCCTCTGCTTGGGGT... | pathogenic | 277,989 |
Chromosome 17, position 48530822, gene HOXB1 (homeobox B1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GTGGGGGCGTGCCTGCACCTTCCTGGTTGTGGCTTGCTGGGGGCAGGCCTTGCACGGCGTTCCAGAAGTCTCTGGAATACCAAGTTCCAAAACACTTTGGTGACATAGTGATGAGGTCGCTGGTGTGAGGAGGCAGGTCTCAGAAAACAACCTCTGAAGGCTGCATTAGTGCAATATAAATATGCCAGGAGAGGGCTAATGGGGTTAGATGGGGGCGGGGGGCTTTTTGGTCTGTCACAAGGCAGCTGGTGCTATTGTAAGGTCTGTGGTGACTGGATTAAGCATTGATAATAATATGGCTGCACCCAAACACCTCCCAC... | GTGGGGGCGTGCCTGCACCTTCCTGGTTGTGGCTTGCTGGGGGCAGGCCTTGCACGGCGTTCCAGAAGTCTCTGGAATACCAAGTTCCAAAACACTTTGGTGACATAGTGATGAGGTCGCTGGTGTGAGGAGGCAGGTCTCAGAAAACAACCTCTGAAGGCTGCATTAGTGCAATATAAATATGCCAGGAGAGGGCTAATGGGGTTAGATGGGGGCGGGGGGCTTTTTGGTCTGTCACAAGGCAGCTGGTGCTATTGTAAGGTCTGTGGTGACTGGATTAAGCATTGATAATAATATGGCTGCACCCAAACACCTCCCAC... | benign | 278,023 |
Does the variant on chromosome 17 at location 49991806 affecting gene DLX3 (distal-less homeobox 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['DLX3-related_disorder', 'Hypomaturation-hypoplastic_amelogenesis_imperfecta_with_taurodontism', 'Tricho-dento-osseous_syndrome'] | CAAGCAGTGGAGTCAGGGAAGCTGCTGCTGGGAGCCTCCCCCAAAGACCTGCCCAGATTGGGGACAGCCATGGTTTCAGGAGCACCTGCCACCAGGGGCCAGGCCCAGCCCAGCACCTTAGTAGTGGTTTCCTAGGGGCCCCGTCTCCCTCAGAGCGCAGAAGTGCCTCCTCACTGGACACCTTCCCCAACTCTCAGACCCTCCCCACAAGAGCTGCCACCAGCCTCCAGTTCAAAGAGCTCAGTGGTTATTTTCGTCTTTTTTATTAACATTATATATAAAGATGAGTCCAGTAAGAAAGCAGAAATGAGAAGGCTGGG... | CAAGCAGTGGAGTCAGGGAAGCTGCTGCTGGGAGCCTCCCCCAAAGACCTGCCCAGATTGGGGACAGCCATGGTTTCAGGAGCACCTGCCACCAGGGGCCAGGCCCAGCCCAGCACCTTAGTAGTGGTTTCCTAGGGGCCCCGTCTCCCTCAGAGCGCAGAAGTGCCTCCTCACTGGACACCTTCCCCAACTCTCAGACCCTCCCCACAAGAGCTGCCACCAGCCTCCAGTTCAAAGAGCTCAGTGGTTATTTTCGTCTTTTTTATTAACATTATATATAAAGATGAGTCCAGTAAGAAAGCAGAAATGAGAAGGCTGGG... | pathogenic | 278,296 |
Gene SGCA (sarcoglycan alpha) variant at chromosome position 50167415 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | GCCCAAGGATACAAACGTGACAAGATCCTAGTCTTCGAGGAGCTTGGAGCAGTCTGTGTGATTGTGTTGTGCCCAGGAAAGCACGCAGGGGCTAAGGGGACACCCAGCTTGGCCTAGCAGAAGAAGGGAGGTCAGAAAGGCTTCAGAGAGGAGAGGACATCTGTGCAGAGTCTGGAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTG... | GCCCAAGGATACAAACGTGACAAGATCCTAGTCTTCGAGGAGCTTGGAGCAGTCTGTGTGATTGTGTTGTGCCCAGGAAAGCACGCAGGGGCTAAGGGGACACCCAGCTTGGCCTAGCAGAAGAAGGGAGGTCAGAAAGGCTTCAGAGAGGAGAGGACATCTGTGCAGAGTCTGGAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTG... | pathogenic | 278,406 |
Assess the variant on chromosome 17, position 50167461, impacting SGCA (sarcoglycan alpha): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | GAGCAGTCTGTGTGATTGTGTTGTGCCCAGGAAAGCACGCAGGGGCTAAGGGGACACCCAGCTTGGCCTAGCAGAAGAAGGGAGGTCAGAAAGGCTTCAGAGAGGAGAGGACATCTGTGCAGAGTCTGGAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTT... | GAGCAGTCTGTGTGATTGTGTTGTGCCCAGGAAAGCACGCAGGGGCTAAGGGGACACCCAGCTTGGCCTAGCAGAAGAAGGGAGGTCAGAAAGGCTTCAGAGAGGAGAGGACATCTGTGCAGAGTCTGGAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTT... | pathogenic | 278,411 |
Chromosome 17, position 50167589, gene SGCA (sarcoglycan alpha): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | GAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAG... | GAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAG... | pathogenic | 278,416 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 50167605, gene SGCA (sarcoglycan alpha): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | GTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGA... | GTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGA... | pathogenic | 278,417 |
A mutation at chromosome position 50167624 on chromosome 17 in gene SGCA (sarcoglycan alpha): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | TGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGT... | TGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGT... | pathogenic | 278,419 |
Is the genetic mutation found on chromosome 17 at position 50167651, within the gene SGCA (sarcoglycan alpha), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | TAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCC... | TAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCC... | pathogenic | 278,423 |
Regarding the variant at chromosome 17 and position 50167657, affecting gene SGCA (sarcoglycan alpha): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | GGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGG... | GGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGG... | pathogenic | 278,425 |
A genetic alteration at chromosome 17, position 50167660, in gene SGCA (sarcoglycan alpha)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | CGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGA... | CGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGA... | pathogenic | 278,426 |
Variant chromosome 17, position 50167943, gene SGCA (sarcoglycan alpha): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | TGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGT... | TGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGT... | pathogenic | 278,434 |
Considering the variant on chromosome 17, location 50167948, involving gene SGCA (sarcoglycan alpha), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | ATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATG... | ATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATG... | pathogenic | 278,436 |
Variant on chromosome 17, at position 50167955, affecting SGCA (sarcoglycan alpha): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | ATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGC... | ATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGC... | pathogenic | 278,438 |
Does the chromosome 17 mutation at position 50167980 within gene SGCA (sarcoglycan alpha) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | GGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGC... | GGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGC... | pathogenic | 278,439 |
For chromosome 17, position 50168010, gene SGCA (sarcoglycan alpha): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | CGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTG... | CGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTG... | pathogenic | 278,441 |
For chromosome 17, position 50168356, gene SGCA (sarcoglycan alpha): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGA... | AGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGA... | benign | 278,443 |
Variant in SGCA (sarcoglycan alpha), chromosome 17, position 50168374—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | ACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTT... | ACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTT... | pathogenic | 278,444 |
Classify the chromosome 17 variant at position 50168451 affecting gene SGCA (sarcoglycan alpha) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | CCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACAC... | CCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACAC... | pathogenic | 278,449 |
Regarding the variant found on chromosome 17 at position 50168470 in gene SGCA (sarcoglycan alpha): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | GCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCA... | GCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCA... | pathogenic | 278,450 |
Considering the variant on chromosome 17, location 50168476, involving gene SGCA (sarcoglycan alpha), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | GGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACC... | GGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACC... | pathogenic | 278,451 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 50168517, gene SGCA (sarcoglycan alpha). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | TGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACAC... | TGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACAC... | pathogenic | 278,456 |
Regarding the variant found on chromosome 17 at position 50168542 in gene SGCA (sarcoglycan alpha): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | GCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACA... | GCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACA... | pathogenic | 278,457 |
Determine if the mutation at chromosome 17, position 50169090 in gene SGCA (sarcoglycan alpha) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | CCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCC... | CCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCC... | pathogenic | 278,461 |
For chromosome 17, position 50169101, gene SGCA (sarcoglycan alpha): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | ACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTC... | ACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTC... | pathogenic | 278,463 |
Evaluate the clinical significance of the mutation at chromosome 17, position 50170148 in gene SGCA (sarcoglycan alpha): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | CAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGA... | CAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGA... | pathogenic | 278,474 |
Does the chromosome 17 mutation at position 50170163 within gene SGCA (sarcoglycan alpha) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | GAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCT... | GAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCT... | pathogenic | 278,475 |
Variant at chromosome position 50170182, chromosome 17, gene SGCA (sarcoglycan alpha): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | CCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGC... | CCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGC... | pathogenic | 278,476 |
Chromosome 17, position 50170193, gene SGCA (sarcoglycan alpha): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | GGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTC... | GGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTC... | pathogenic | 278,477 |
A mutation at chromosome position 50170296 on chromosome 17 in gene SGCA (sarcoglycan alpha): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | CTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAA... | CTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAA... | pathogenic | 278,480 |
Mutation at chromosome 17, position 50170347, within SGCA (sarcoglycan alpha): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | GAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGC... | GAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGC... | pathogenic | 278,482 |
Regarding the variant at chromosome 17 and position 50170663, affecting gene SGCA (sarcoglycan alpha): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | CAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTG... | CAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTG... | pathogenic | 278,485 |
Variant on chromosome 17, at position 50175295, affecting SGCA (sarcoglycan alpha): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | ATTCTGCTGCCTGCTTTTCACCTAGATCAGATTTCAGCGGTCACAGAGTCCTCCAGGCCCCACGACCCTCTCCTGGGGATTTCTGTGCCAGAGGCAGTGCTTTCGGGACTGTGTGTTGGTGGTGGAGTGGGTGTGGGTGAGACCTAGGCCACGTGTGTGTGTGTCTGTGCGTGTGCCTGAGTGTGTAGGAATGCCTGCCGTTTGTCTGTCTGCCCAAGTGCTGATGTGGAAGGACCGTGGGGAAGCCACTGCGGGGTCTGGCCTCTGCTCTTGCTCTAGAAAAACATCCCCAGCACATTTTTCCACCTGTGTGTTGCCAG... | ATTCTGCTGCCTGCTTTTCACCTAGATCAGATTTCAGCGGTCACAGAGTCCTCCAGGCCCCACGACCCTCTCCTGGGGATTTCTGTGCCAGAGGCAGTGCTTTCGGGACTGTGTGTTGGTGGTGGAGTGGGTGTGGGTGAGACCTAGGCCACGTGTGTGTGTGTCTGTGCGTGTGCCTGAGTGTGTAGGAATGCCTGCCGTTTGTCTGTCTGCCCAAGTGCTGATGTGGAAGGACCGTGGGGAAGCCACTGCGGGGTCTGGCCTCTGCTCTTGCTCTAGAAAAACATCCCCAGCACATTTTTCCACCTGTGTGTTGCCAG... | pathogenic | 278,486 |
Is the variant located on chromosome 17 at position 50175310, gene SGCA (sarcoglycan alpha), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D'] | TTTCACCTAGATCAGATTTCAGCGGTCACAGAGTCCTCCAGGCCCCACGACCCTCTCCTGGGGATTTCTGTGCCAGAGGCAGTGCTTTCGGGACTGTGTGTTGGTGGTGGAGTGGGTGTGGGTGAGACCTAGGCCACGTGTGTGTGTGTCTGTGCGTGTGCCTGAGTGTGTAGGAATGCCTGCCGTTTGTCTGTCTGCCCAAGTGCTGATGTGGAAGGACCGTGGGGAAGCCACTGCGGGGTCTGGCCTCTGCTCTTGCTCTAGAAAAACATCCCCAGCACATTTTTCCACCTGTGTGTTGCCAGAGTAATGAGGTCCAG... | TTTCACCTAGATCAGATTTCAGCGGTCACAGAGTCCTCCAGGCCCCACGACCCTCTCCTGGGGATTTCTGTGCCAGAGGCAGTGCTTTCGGGACTGTGTGTTGGTGGTGGAGTGGGTGTGGGTGAGACCTAGGCCACGTGTGTGTGTGTCTGTGCGTGTGCCTGAGTGTGTAGGAATGCCTGCCGTTTGTCTGTCTGCCCAAGTGCTGATGTGGAAGGACCGTGGGGAAGCCACTGCGGGGTCTGGCCTCTGCTCTTGCTCTAGAAAAACATCCCCAGCACATTTTTCCACCTGTGTGTTGCCAGAGTAATGAGGTCCAG... | pathogenic | 278,488 |
Benign or pathogenic: chromosome 17, position 50184820, gene COL1A1 (collagen type I alpha 1 chain) variant? Disease(s) if pathogenic? | benign | CATTTATATGCCATCATTCTTATCCTCTCTACACTGATTCCCTTTCTACACTGTCCTAAGTGTGGTAGAAGTGCTAATGATGAATTATTGAAGGCCATAATGAACGGCCATGAATACTTAATGACATCACGATATTAGTATTGCTGATGGATGGTATCTACAGACTTGTCCATCTCTCTGGAGACCTTAGGGAGGAGTGCGGGCTTTTTGTTCTTTTTGGGTTTAGACCTGAGATGAGGTGAGAGAGGTGACCAGCTGTCGTCTCGCTGTCTCCCTGGCTCCGGGTGCCTGGTTCTCTCTGGACTTCTGACGCCCTGGAT... | CATTTATATGCCATCATTCTTATCCTCTCTACACTGATTCCCTTTCTACACTGTCCTAAGTGTGGTAGAAGTGCTAATGATGAATTATTGAAGGCCATAATGAACGGCCATGAATACTTAATGACATCACGATATTAGTATTGCTGATGGATGGTATCTACAGACTTGTCCATCTCTCTGGAGACCTTAGGGAGGAGTGCGGGCTTTTTGTTCTTTTTGGGTTTAGACCTGAGATGAGGTGAGAGAGGTGACCAGCTGTCGTCTCGCTGTCTCCCTGGCTCCGGGTGCCTGGTTCTCTCTGGACTTCTGACGCCCTGGAT... | benign | 278,502 |
Is the chromosome 17, position 50186804 variant in COL1A1 (collagen type I alpha 1 chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTG... | CCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTG... | pathogenic | 278,576 |
Considering the genetic mutation at chromosome 17, position 50186886, impacting COL1A1 (collagen type I alpha 1 chain): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATT... | CCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATT... | pathogenic | 278,583 |
The chromosome 17, position 50186913 genetic variant in gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAA... | CTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAA... | pathogenic | 278,586 |
Clinically, how would you classify the variant at chromosome 17, position 50187050, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Combined_osteogenesis_imperfecta_and_Ehlers-Danlos_syndrome_1', 'Ehlers-Danlos_syndrome,_arthrochalasia_type', 'Infantile_cortical_hyperostosis', 'Osteogenesis_imperfecta,_perinatal_lethal', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III', 'Osteogenesis_imperfecta_with_normal_sclerae,... | GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGT... | GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGT... | pathogenic | 278,594 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 50187051, gene COL1A1 (collagen type I alpha 1 chain): what disease(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTC... | CTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTC... | pathogenic | 278,595 |
Is chromosome 17, position 50187884, gene COL1A1 (collagen type I alpha 1 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form'] | TCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCG... | TCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCG... | pathogenic | 278,606 |
Evaluate this variant at chromosome 17, position 50188566, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | GCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTT... | GCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTT... | pathogenic | 278,629 |
Gene COL1A1 (collagen type I alpha 1 chain) variant at chromosome 17, position 50188568—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Joint_hypermobility', 'Osteogenesis_imperfecta_type_I', 'Reduced_bone_mineral_density'] | AGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGA... | AGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGA... | pathogenic | 278,630 |
Gene COL1A1 (collagen type I alpha 1 chain) variant at chromosome position 50188574 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['COL1A1-related_disorder', 'Osteogenesis_imperfecta_type_I'] | AGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGC... | AGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGC... | pathogenic | 278,632 |
The chromosome 17, position 50188578 genetic variant in gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['COL1A1-related_disorder', 'Osteogenesis_imperfecta', 'Osteogenesis_imperfecta,_perinatal_lethal', 'Osteogenesis_imperfecta_type_I'] | GGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGG... | GGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGG... | pathogenic | 278,633 |
Gene COL1A1 (collagen type I alpha 1 chain) variant at chromosome 17, position 50188578—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['COL1A1-related_disorder', 'Combined_osteogenesis_imperfecta_and_Ehlers-Danlos_syndrome_1', 'Osteogenesis_imperfecta', 'Osteogenesis_imperfecta,_perinatal_lethal', 'Osteogenesis_imperfecta_type_I'] | GGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGG... | GGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGG... | pathogenic | 278,634 |
Is the genetic variant on chromosome 17, position 50188601, gene COL1A1 (collagen type I alpha 1 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | AGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCA... | AGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCA... | pathogenic | 278,635 |
Chromosome 17, position 50188613, gene COL1A1 (collagen type I alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | TAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGA... | TAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGA... | pathogenic | 278,636 |
A genetic variant at chromosome 17, position 50188799, affecting gene COL1A1 (collagen type I alpha 1 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAG... | GGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAG... | benign | 278,651 |
Considering the genetic mutation at chromosome 17, position 50188799, impacting COL1A1 (collagen type I alpha 1 chain): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAG... | GGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAG... | benign | 278,652 |
Is the variant located on chromosome 17 at position 50188938, gene COL1A1 (collagen type I alpha 1 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | GGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTG... | GGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTG... | pathogenic | 278,657 |
Regarding the variant found on chromosome 17 at position 50188939 in gene COL1A1 (collagen type I alpha 1 chain): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | GGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGG... | GGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGG... | pathogenic | 278,658 |
The chromosome 17, position 50188945 genetic variant in gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ehlers-Danlos_syndrome,_arthrochalasia_type', 'Osteogenesis_imperfecta_type_I'] | GGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGG... | GGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGG... | pathogenic | 278,660 |
Benign or pathogenic: chromosome 17, position 50188956, gene COL1A1 (collagen type I alpha 1 chain) variant? Disease(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | AGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTC... | AGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTC... | pathogenic | 278,661 |
Is chromosome 17, position 50188957, gene COL1A1 (collagen type I alpha 1 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['COL1A1-related_disorder', 'Osteogenesis_imperfecta_type_I'] | GGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCA... | GGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCA... | pathogenic | 278,662 |
Does the chromosome 17 mutation at position 50189193 within gene COL1A1 (collagen type I alpha 1 chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III'] | AGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGA... | AGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGA... | pathogenic | 278,669 |
Is chromosome 17, position 50189273, gene COL1A1 (collagen type I alpha 1 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | CTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGG... | CTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGG... | pathogenic | 278,674 |
A genetic variant at chromosome 17, position 50189419, affecting gene COL1A1 (collagen type I alpha 1 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCC... | CTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCC... | pathogenic | 278,680 |
Does the variant on chromosome 17 at location 50189421 affecting gene COL1A1 (collagen type I alpha 1 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | GTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCA... | GTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCA... | pathogenic | 278,681 |
Clinical classification of chromosome 17, position 50189430, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form'] | CCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTC... | CCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTC... | pathogenic | 278,682 |
Mutation found at chromosome 17 position 50189449, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | AGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCT... | AGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCT... | pathogenic | 278,683 |
Evaluate this variant at chromosome 17, position 50189520, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | GGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACT... | GGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACT... | pathogenic | 278,686 |
Is the genetic change at chromosome 17, position 50189521, within gene COL1A1 (collagen type I alpha 1 chain) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Osteogenesis_imperfecta_type_I'] | GCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTA... | GCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTA... | pathogenic | 278,687 |
Chromosome 17, position 50189874, gene COL1A1 (collagen type I alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Combined_osteogenesis_imperfecta_and_Ehlers-Danlos_syndrome_1', 'Ehlers-Danlos_syndrome,_arthrochalasia_type', 'Infantile_cortical_hyperostosis', 'Osteogenesis_imperfecta,_perinatal_lethal', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III', 'Osteogenesis_imperfecta_with_normal_sclerae,... | CCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAG... | CCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAG... | pathogenic | 278,699 |
Chromosome 17, position 50190009, gene COL1A1 (collagen type I alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | TCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCC... | TCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCC... | pathogenic | 278,705 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 50190036, gene COL1A1 (collagen type I alpha 1 chain): what disease(s) if pathogenic? | pathogenic; ['COL1A1-related_disorder', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form'] | AAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTC... | AAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTC... | pathogenic | 278,709 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 50190327, gene COL1A1 (collagen type I alpha 1 chain): what disease(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | CCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGC... | CCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGC... | pathogenic | 278,719 |
Evaluate if the mutation on chromosome 17 at position 50190353 in COL1A1 (collagen type I alpha 1 chain) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | TTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCT... | TTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCT... | pathogenic | 278,723 |
Clinically, how would you classify the variant at chromosome 17, position 50190542, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | TGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAG... | TGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAG... | pathogenic | 278,727 |
Does the chromosome 17 mutation at position 50191830 within gene COL1A1 (collagen type I alpha 1 chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['COL1A1-related_disorder', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III'] | CCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGT... | CCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGT... | pathogenic | 278,762 |
Clinical classification of chromosome 17, position 50191841, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['COL1A1-related_disorder', 'Osteogenesis_imperfecta_type_I'] | GCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGG... | GCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGG... | pathogenic | 278,764 |
Variant in gene COL1A1 (collagen type I alpha 1 chain), located at chromosome 17 position 50191997: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['COL1A1-related_disorder', 'Osteogenesis_imperfecta,_perinatal_lethal', 'Osteogenesis_imperfecta_type_I'] | TCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGT... | TCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGT... | pathogenic | 278,771 |
Is the genetic variant on chromosome 17, position 50192545, gene COL1A1 (collagen type I alpha 1 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCAC... | GAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCAC... | benign | 278,785 |
Evaluate the clinical significance of the mutation at chromosome 17, position 50192805 in gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['COL1A1-related_disorder', 'Osteogenesis_imperfecta_type_I'] | GCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGG... | GCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGG... | pathogenic | 278,797 |
Variant on chromosome 17, at position 50193002, affecting COL1A1 (collagen type I alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['COL1A1-related_disorder', 'Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III'] | AGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGAT... | AGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGAT... | pathogenic | 278,805 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.