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 |
|---|---|---|---|---|---|
A genetic variant at chromosome 15, position 48474265, affecting gene FBN1 (fibrillin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GATTAACAGGTTGCATCCCCCTCCGTAGGGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCT... | GATTAACAGGTTGCATCCCCCTCCGTAGGGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCT... | pathogenic | 232,764 |
Evaluate the clinical significance of the mutation at chromosome 15, position 48474276 in gene FBN1 (fibrillin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TGCATCCCCCTCCGTAGGGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGT... | TGCATCCCCCTCCGTAGGGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGT... | pathogenic | 232,766 |
Clinically, how would you classify the variant at chromosome 15, position 48474293, gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Marfan_syndrome'] | GGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTC... | GGATAAATGGGTTGCACTGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTC... | pathogenic | 232,771 |
Is the variant located on chromosome 15 at position 48474310, gene FBN1 (fibrillin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Marfan_syndrome'] | TGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCAC... | TGATTTAACCACACTTGGTTACCCTCATTGACCAATGGATACACCCTTGCAGACCATGCGGCCAAGGCTGGATGTACAGCTTGTGGCCAGTCAGCTGAGGTTTTCTGTGCAGCAAGAGAAATGGTCAGCTGGAAACCTAATCCCTCTACAAACTGAACTGACCAGCTTAGAAATGAAGCTAAAACACACCTCAGTTTAAAAAAAAAAAAAAAAAAAAGCATCAGGAATGTTTAAATAACCTAATCTCATCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCAC... | pathogenic | 232,778 |
Is the chromosome 15, position 48474558 variant in FBN1 (fibrillin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTG... | TCAAGCCCAGCAAGGCTCCCAGTGGCTTCCCCATCAGTTACCTTCACAGGCTTTCCCGTCAGCACTGGGCACGAAGCCCATGTCGCATTCACAGCGGTATCCTCCTGGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTG... | pathogenic | 232,790 |
Mutation found at chromosome 15 position 48474664, gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGATAATTTACCCTGAATGATATAAAATGAATAAGCCGAAGGAATCATGCAAACTAAGGCCTGTTCAA... | GGTGCATTGAGGCACTGGCCATTGCCACAGAGATTCAGGTTCTCAGAGCACTCATCAAGGTCTACAGCCAGAAAGAAACACACGTTACTCTTCCTCGGTTAGGGGCTTTCTAATTCCTCAGGTCTATCAACTTTCCAGTGCAGCAATGTTTTGGCATAACTTCAATTTGACACATTTAAAGTCATTTATTTTTCTCTTTGGTAGGCTAACACTGAATATGAAATTTACATGTGGCTGATTCAGAATCCTGAATGATAATTTACCCTGAATGATATAAAATGAATAAGCCGAAGGAATCATGCAAACTAAGGCCTGTTCAA... | benign | 232,807 |
Mutation at chromosome 15, position 48481673, within FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GGATCAAATGTTTCTTTGACTTCAAATCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGC... | GGATCAAATGTTTCTTTGACTTCAAATCTATGTTCATGTGATTGACTCAAAGGCTGCTGTTCTTAACGTAAAGCTGGTGTCACTTCATGCAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGC... | pathogenic | 232,814 |
Evaluate if the mutation on chromosome 15 at position 48481762 in FBN1 (fibrillin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Progeroid_and_marfanoid_aspect-lipodystrophy_syndrome', 'likely other unspecified diseases'] | CAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCATTTGACAATAGCTTTTATTTATTGACCAGCACTGCGCCAACAGCATTGTATACATTATATGTCA... | CAACTGTAGTGCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCATTTGACAATAGCTTTTATTTATTGACCAGCACTGCGCCAACAGCATTGTATACATTATATGTCA... | pathogenic | 232,828 |
Does the chromosome 15 mutation at position 48481772 within gene FBN1 (fibrillin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome', 'likely other unspecified diseases'] | GCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCATTTGACAATAGCTTTTATTTATTGACCAGCACTGCGCCAACAGCATTGTATACATTATATGTCATTTACCTAAA... | GCACAGCTCTGTTACCATGGTCTTAGTATCTGTGCAAATTCAACTACGAAAAACAAGCCTTTCAATATAAAGAGTAAGATTTTCCTTCTTTAAACTGAGTTCAAGCATGAATCAGTAAACAGTAGCATAAAATTTTTGCTAGACTGTTAAATTCTCAAATGAAACAACAAAACAATGGACAATAGATATAGACTAGAAGCAATGGCTTTCACTAAAATGGCCTCTAGACACTGTGTCTATGTTTCATTTGACAATAGCTTTTATTTATTGACCAGCACTGCGCCAACAGCATTGTATACATTATATGTCATTTACCTAAA... | pathogenic | 232,830 |
Evaluate if the mutation on chromosome 15 at position 48485451 in FBN1 (fibrillin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGCCTCTAAATATCCTTACTTTTCCTATG... | TTTGAAGGCATAACAATAGAAACTATACAAAACAAATAGATCAGTTCTAAAGTTTACTGCATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGCCTCTAAATATCCTTACTTTTCCTATG... | pathogenic | 232,859 |
For chromosome 15, position 48485510, gene FBN1 (fibrillin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGCCTCTAAATATCCTTACTTTTCCTATGGAATCTTTCTATCACTGACCCAAACTAACTTTATGTAATTTAACAGTGCTTATGACTAA... | CATTCTTGTCAGAAGTAAATTTTGTTTGCCTTTAGTCAAGGATTTAAAAAGCCTACATGATAGTCAAAGCAGAAGGAGGGTTAAGTGGACAAAAGTAATGGATAGGCATAAAAGAAATGTCCATCTGGAGCTGACGAATGGCCAGTCAGTCCTCATAACATATCTGACAAGAGTACCATTTAATAGCCACAAGAAAGCTCTCTTTGGAATGCTGGTTAAAATATGAGTATTGTGCCTCTAAATATCCTTACTTTTCCTATGGAATCTTTCTATCACTGACCCAAACTAACTTTATGTAATTTAACAGTGCTTATGACTAA... | benign | 232,865 |
Does the variant impacting FBN1 (fibrillin 1) on chromosome 15, position 48487034, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATGGGGCCTGAGATTTTACATTTTTTTAACAAGTTCTCAGGTGATGCTGTTGCCAATGGTTCAAGGAATAAACCTGGAGTTGCACTGAATTAGGCCAAAACATCAAACTCTTCAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAG... | ATGGGGCCTGAGATTTTACATTTTTTTAACAAGTTCTCAGGTGATGCTGTTGCCAATGGTTCAAGGAATAAACCTGGAGTTGCACTGAATTAGGCCAAAACATCAAACTCTTCAAAAGTCTGGTCAATGAAGGAAAATGTATTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAG... | benign | 232,866 |
Determine if the mutation at chromosome 15, position 48487175 in gene FBN1 (fibrillin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | TTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTT... | TTTTATATTCCATTTATTATATGCCAGGTACTATGGTAAGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTT... | pathogenic | 232,885 |
A genetic alteration at chromosome 15, position 48487213, in gene FBN1 (fibrillin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGC... | AGCTCTGTAAATACTATTTTATGCAGGCAATTTGAACTTCATTTTATAGATGAGGATTCTAATAATAGGTATCTTGATTAAGGATACAGTTAAAATATATGACAAACAAGGGTTTGGACTCAAGCCTGCTTGACTCCAAAGCCTGGGCCCTAAACTACTTTACTTAGGAACCTACTGAGAGATTCAACATGAGGCTAGAACCTACTCACCGGTGCATGATCTCTGGTCAGGCATTAGTGCAAATCCCGGCTGACAGCTACATTCATAGCTGCCTTCAGAGTTTGTGCAGAAGGTTTCACAACCACCATTCATTATGCTGC... | benign | 232,891 |
Considering the variant on chromosome 15, location 48488099, involving gene FBN1 (fibrillin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GACTTCAAAATGATTACACTGTGGCCAGGAGACAGATGAACAATTAATTGCACCATGCATGATGTGCCATTTGCAATGCAGGAGAAGTATTGGGTGCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTG... | GACTTCAAAATGATTACACTGTGGCCAGGAGACAGATGAACAATTAATTGCACCATGCATGATGTGCCATTTGCAATGCAGGAGAAGTATTGGGTGCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTG... | benign | 232,915 |
Mutation found at chromosome 15 position 48488175, gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TGCAGGAGAAGTATTGGGTGCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGA... | TGCAGGAGAAGTATTGGGTGCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGA... | pathogenic | 232,921 |
Gene FBN1 (fibrillin 1) variant at chromosome 15, position 48488180—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GAGAAGTATTGGGTGCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTC... | GAGAAGTATTGGGTGCTAGGAGAACACATCTCAGTTATGATAATAGGCACGTGGATGAAATTCTCTTGGCCACAGATTCACTTATAAACTTGAAATTCAGTTTGATTGGCTGAGGTTCCAATCTTTTTCAATAACCTGAGTTGAAGTTCTGAGTTGTCCTGGGCCATGTTTCAGAAAACTTTGGGCTGATTTATGGTTTTGGGTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTC... | pathogenic | 232,923 |
Clinical classification of chromosome 15, position 48488382, gene FBN1 (fibrillin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTC... | GTGGAAACCATGTGAGACTTGGCAGTTCCACATGGTGTACACCCCAAACCAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTC... | pathogenic | 232,935 |
Does the chromosome 15 mutation at position 48488431 within gene FBN1 (fibrillin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | CAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATT... | CAGGCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATT... | pathogenic | 232,941 |
Considering the genetic mutation at chromosome 15, position 48488434, impacting FBN1 (fibrillin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Marfan_syndrome'] | GCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCA... | GCAAAAACTGGCAGTTTCTACAAAGTTTCACTTTGACTCGGGGCACAATAAAGCCACAGGACTGTCTGTGCCACTCTTCACAGCACGACTAAACCTACAGAGGGCTGACCACAAAGCAAAATTCTTGTCCCACAAAAACCCATCTTTAAGGAGAGCCAGGCATAGCCTCAATTGCAGTGTAAGATATGAACATTCCATGGTCTTCTTTCCAATAGTTATTTTTTTGAAATCTTTTAGCTGATCTAAACCACATAAGGGCAGTGATTTCAACTCAGCTTTCTGCTCTTTTCCACAGCACTCACCGTGTTTAGTTTATTTCA... | pathogenic | 232,944 |
Clinical significance of chromosome 15, position 48489842, gene FBN1 (fibrillin 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTAGAAGTGTTGGACAGACATCTTGTAAAGGGACCTCTACTACAGCTTCTGTCTCAATTGTCCTCTCTTCCGCCTGGGTATCCATTTCAGGTGTTAAAATCACTTCTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACC... | CTAGAAGTGTTGGACAGACATCTTGTAAAGGGACCTCTACTACAGCTTCTGTCTCAATTGTCCTCTCTTCCGCCTGGGTATCCATTTCAGGTGTTAAAATCACTTCTCAAGGGCCCACAACTGGTCTCCGCCATCACCCACAAACCCACAGCATGAATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACC... | benign | 232,955 |
Variant at chromosome position 48489998, chromosome 15, gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | ATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGGGGTGTTCACACACTGGCCTCTGCCACAGAGGTCAGGAGATATGCGGCATTCGTCAATGTCTGCACAAAAACAGCAAGTGGCAGCAAA... | ATTCCCTCATTCTTTCTACCTCAGTCTCCCTCTGTTGCAGACTGATTCCTAACTTCACTGGTTGCACTGGGGCAGCAGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGGGGTGTTCACACACTGGCCTCTGCCACAGAGGTCAGGAGATATGCGGCATTCGTCAATGTCTGCACAAAAACAGCAAGTGGCAGCAAA... | pathogenic | 232,984 |
Variant at chromosome 15, position 48490074, gene FBN1 (fibrillin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome', 'likely other unspecified diseases'] | AGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGGGGTGTTCACACACTGGCCTCTGCCACAGAGGTCAGGAGATATGCGGCATTCGTCAATGTCTGCACAAAAACAGCAAGTGGCAGCAAATGAGTCTCAGGACAGCCTTAATTCTTGCGACAATATGTTAAAGATAAAGAGTTTTAAAGGACGTCCCCTCTCCTGG... | AGGAAGAACCTGGAACATAGGCTATGAGCCATCAAAGCTTCATGGAATCCTTCTCTTTCTGTGTTGATCAAATGATCCCAAACTTACCCATGCAGTTCTTCATCATCATGAATCCACTTTCATAGCCTTCGTCACACTTGCATTCAAAGTCCCCAGGGGTGTTCACACACTGGCCTCTGCCACAGAGGTCAGGAGATATGCGGCATTCGTCAATGTCTGCACAAAAACAGCAAGTGGCAGCAAATGAGTCTCAGGACAGCCTTAATTCTTGCGACAATATGTTAAAGATAAAGAGTTTTAAAGGACGTCCCCTCTCCTGG... | pathogenic | 232,995 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 48492500, gene FBN1 (fibrillin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | TAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCC... | TAAAAGCCAACTGTACTCTTTATTGTTGGAGCGTGTCTGCCCTAGTGCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCC... | pathogenic | 233,004 |
Variant in gene FBN1 (fibrillin 1), located at chromosome 15 position 48492546: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['FBN1-related_disorder'] | GCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCCTAAACCT... | GCAATCACCTTTTCCTCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCCTAAACCT... | pathogenic | 233,014 |
Gene FBN1 (fibrillin 1) variant at chromosome position 48492561 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Acromicric_dysplasia', 'Ectopia_lentis_1,_isolated,_autosomal_dominant', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Geleophysic_dysplasia_2', 'MASS_syndrome', 'Marfan_syndrome', 'Progeroid_and_marfanoid_aspect-lipodystrophy_syndrome', 'Stiff_skin_syndrome', 'Weill-Marchesani_syndrome_2,_d... | TCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCCTAAACCTGAATTTCCACATCTG... | TCCGACCCACTTCATTTTTGGAAAGGTGGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCCTAAACCTGAATTTCCACATCTG... | pathogenic | 233,015 |
Gene mutation in FBN1 (fibrillin 1) at chromosome 15, position 48492588—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCCTAAACCTGAATTTCCACATCTGTTACAGGATGTTGCACTCATCTCTCAG... | GGAATGATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCCTAAACCTGAATTTCCACATCTGTTACAGGATGTTGCACTCATCTCTCAG... | benign | 233,022 |
Mutation at chromosome 15, position 48492594, within FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | ATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCCTAAACCTGAATTTCCACATCTGTTACAGGATGTTGCACTCATCTCTCAGAAGGTT... | ATGAACTCTGGAAAGAGGACTGCTTTACTTGAGATTAAAGAGAAAAATGCAAAGAAAAGCCATTCACTTTACTTCTCAAATATTTCTTTCACCTAAACACGTGCTTAAGGGCACATTCTTCAAGGTACTTGTGGGATACCTCTAGCCCCAAACCCAAATTCATGGGATTATAAAGAAGAGCAGAAAGCCTAGCAGAGCAGAGGTCAGAAGAGCTGGATTTTGGTCCTCTTCTGTAACTCAGTGGATTGTCTTCAATAAATTATCCTAAACCTGAATTTCCACATCTGTTACAGGATGTTGCACTCATCTCTCAGAAGGTT... | benign | 233,026 |
Clinical classification of chromosome 15, position 48494203, gene FBN1 (fibrillin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | ATTGTTCTTTTCTCCACCACTCAGCTTGTATTTTATAGTTCACGGCATATGGGGCCGATTTAAGAGCTCTGGAAAAATAACTGTGATGCTAGTGATTTAAGGAATAGTTGCATATCAACAGAAACTACAGTTGCTGCTTACTATTTGAAAGACTGTCAAAGGAGTGGCCATGGACCCTATCGGACATGCTGAATTTTGGAGTGTGTGTCTGTACCTGAAGCTAAGTGCTCAGCTATATCTTGTTAACTTCATTTTTAATAATCGTTAATAAATTATTATTAGAAAAATAATGAGCTCAGTATTTACCAAGACAGATCCTT... | ATTGTTCTTTTCTCCACCACTCAGCTTGTATTTTATAGTTCACGGCATATGGGGCCGATTTAAGAGCTCTGGAAAAATAACTGTGATGCTAGTGATTTAAGGAATAGTTGCATATCAACAGAAACTACAGTTGCTGCTTACTATTTGAAAGACTGTCAAAGGAGTGGCCATGGACCCTATCGGACATGCTGAATTTTGGAGTGTGTGTCTGTACCTGAAGCTAAGTGCTCAGCTATATCTTGTTAACTTCATTTTTAATAATCGTTAATAAATTATTATTAGAAAAATAATGAGCTCAGTATTTACCAAGACAGATCCTT... | pathogenic | 233,028 |
The mutation in gene FBN1 (fibrillin 1) at chromosome 15, position 48494249—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Marfan_syndrome'] | ATATGGGGCCGATTTAAGAGCTCTGGAAAAATAACTGTGATGCTAGTGATTTAAGGAATAGTTGCATATCAACAGAAACTACAGTTGCTGCTTACTATTTGAAAGACTGTCAAAGGAGTGGCCATGGACCCTATCGGACATGCTGAATTTTGGAGTGTGTGTCTGTACCTGAAGCTAAGTGCTCAGCTATATCTTGTTAACTTCATTTTTAATAATCGTTAATAAATTATTATTAGAAAAATAATGAGCTCAGTATTTACCAAGACAGATCCTTCCTGTGGCATCCAAAGTCATTCCACTGGGACACTGACACTTGAATG... | ATATGGGGCCGATTTAAGAGCTCTGGAAAAATAACTGTGATGCTAGTGATTTAAGGAATAGTTGCATATCAACAGAAACTACAGTTGCTGCTTACTATTTGAAAGACTGTCAAAGGAGTGGCCATGGACCCTATCGGACATGCTGAATTTTGGAGTGTGTGTCTGTACCTGAAGCTAAGTGCTCAGCTATATCTTGTTAACTTCATTTTTAATAATCGTTAATAAATTATTATTAGAAAAATAATGAGCTCAGTATTTACCAAGACAGATCCTTCCTGTGGCATCCAAAGTCATTCCACTGGGACACTGACACTTGAATG... | pathogenic | 233,033 |
Variant in FBN1 (fibrillin 1), chromosome 15, position 48496105—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_aortopathy', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GCTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTT... | GCTGTTCCGTTTTGTAGTTCTCATTATTTTTTTTCTCTGCTGCATATTTCTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTT... | pathogenic | 233,093 |
The chromosome 15, position 48496154 genetic variant in gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Marfan_syndrome'] | CTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGAGGA... | CTCCCTGTGAAGTTATATGACAGCTTTATCCAGTCCGAGTTAACACAAACATTCATTATGCACACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGAGGA... | pathogenic | 233,102 |
Located at chromosome 15 position 48496217, the variant affecting gene FBN1 (fibrillin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | ACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGAGGAAGAACAGTAATGAAATGTCTCCTCAAATAAAGCTCAATTCCACTAAGATACTCCAAAAGACAC... | ACAAAAATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGAGGAAGAACAGTAATGAAATGTCTCCTCAAATAAAGCTCAATTCCACTAAGATACTCCAAAAGACAC... | pathogenic | 233,111 |
Gene mutation in FBN1 (fibrillin 1) at chromosome 15, position 48496222—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | AATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGAGGAAGAACAGTAATGAAATGTCTCCTCAAATAAAGCTCAATTCCACTAAGATACTCCAAAAGACACAGACG... | AATGTATGGTTTATAAGTAATCAGAAATACCTTCACATTGTGTTCCTTTAATTCTTGAGTACCCTTTACCACATATGGGATCTGTAATAAAAAGCGAAAAACAAAACAGAAAACAAATTTGAGATAACAATATCCAGACTTTGCAGTTCTGACATAGTGTAAGAAACATGAAAGATGACCTGGAACATGAAGTAGATTGTGTTGCTATAAGTATGAGATAACAAAATGTTTCTGCGATTGCATAGGTGAGGAAGAACAGTAATGAAATGTCTCCTCAAATAAAGCTCAATTCCACTAAGATACTCCAAAAGACACAGACG... | pathogenic | 233,112 |
A genetic alteration at chromosome 15, position 48497266, in gene FBN1 (fibrillin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | CGCCCATCAATGACAGTCTGCCAGCAAGTGCCCTTGATGGTTTCTGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGC... | CGCCCATCAATGACAGTCTGCCAGCAAGTGCCCTTGATGGTTTCTGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGC... | pathogenic | 233,115 |
Gene FBN1 (fibrillin 1) variant at chromosome 15, position 48497289—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GCAAGTGCCCTTGATGGTTTCTGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATG... | GCAAGTGCCCTTGATGGTTTCTGCAGAGGAGGGAATAATATTTAATAGAATCTATATAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATG... | pathogenic | 233,121 |
Gene FBN1 (fibrillin 1) variant at chromosome position 48497345 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTG... | TAAAAATTCAAACATACACCTTGGAATTATAGACAAAAATAGCATTTGAAACAAGGAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTG... | pathogenic | 233,135 |
Is chromosome 15, position 48497400, gene FBN1 (fibrillin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTGCTAAAATCTAGTCTTGGGCCTAAAAGAGTACTTCAACTTTGACCCCAATTGCTAC... | GAATAATGAAGTTTTTAATATTGTTCATCCATACTTAAATTCTTTTGCAGGAAAAGCTGACATTAAGTATAACAACATTGATAAACATAGAAAAATCATTCTCAGAAAGATAAATACCTATGCAGATGGTTTTTGTTGGATCCAAAGTACTTTCAGAAGAACATTCACAAATAAAAGAGCCTGGGCTGTTCTTGCAGACTCCATTAATGCAAGGACTTGATTCGCATTCATCAATGTCTGAAACAAAAACAGGTCTACATTACTGCTAAAATCTAGTCTTGGGCCTAAAAGAGTACTTCAACTTTGACCCCAATTGCTAC... | benign | 233,144 |
Variant in FBN1 (fibrillin 1), chromosome 15, position 48503847—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Marfan_syndrome'] | AAGTACTTTGAAAAGTTAAAGTAACACACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCT... | AAGTACTTTGAAAAGTTAAAGTAACACACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCT... | pathogenic | 233,174 |
Evaluate the clinical significance of the mutation at chromosome 15, position 48503873 in gene FBN1 (fibrillin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | CACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCTCCTGGATTCAAGTGATTCTCCTGCCT... | CACAAAAGGATGATATTAATAATATACAACTATAAAGTTATAGGCAAATGTCTTCAACAGAATGGTATTTGTATATAATAAAAGTATTATAAACACATATTGAACTGATTGGTGATCATACATAAAATGATAATTTCTATATTATTCACCGGGTGAAGTCATTAGCCAGAGCAGTTTTTTTCTTTAAATAGGCATCCCTCATTTCCTTTTTCTTTCTTTATTGAGACAGAGTCTCGCTCTGTCACCCACGCTGGAGAACAGTGGTGCTATCTTGGCTCACTGAAACCTCCACCTCCTGGATTCAAGTGATTCTCCTGCCT... | pathogenic | 233,178 |
Variant chromosome 15, position 48505026, gene FBN1 (fibrillin 1): benign or pathogenic? Disease(s)? | pathogenic | TCTCTCAGGTTAAATCAAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCA... | TCTCTCAGGTTAAATCAAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCA... | pathogenic | 233,193 |
A mutation at chromosome position 48505042 on chromosome 15 in gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | AAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAA... | AAATCATTAAAGAAAACCACACCGGTCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACACGTGTAATCCCAGCTACTCAGGAGTTTGAGGCAGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAA... | pathogenic | 233,196 |
Variant at chromosome position 48510048, chromosome 15, gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Marfan_syndrome'] | TTACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGT... | TTACCAAACTAAAAAAATGGTTCTTGGTTGTTTATTTATTCTGCTTAATCCTGTTTCCCTTCTTGCTTATGTAACTTGATAAAGCCGAAATAAATTATCCTTAAAAAAAATTTCTGTGTCTTAAGATGCCTAGAGGAAATTATGAGGAAGAGATCATTGCAAATAACAGTCTACACTATTCTGTCCAGGTAAAGATGTAAGAGGTGGCAAATAACAGCCACCAAGAAGCCTAACCACCATTATTCCCTAACTGGAAAGAAGAGGTAGAACTCAGCTTCTTGAGAACAATGCCCACATCTGTTGGAAGACCAATAGGCAGT... | pathogenic | 233,241 |
Classify the chromosome 15 variant at position 48513565 affecting gene FBN1 (fibrillin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GAATGTCATGGGGTTCCCCATTGCCCTATAAGACAAATTTAAAGCTTGTCATTCAAAGTTCTCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATAC... | GAATGTCATGGGGTTCCCCATTGCCCTATAAGACAAATTTAAAGCTTGTCATTCAAAGTTCTCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATAC... | pathogenic | 233,271 |
Variant in gene FBN1 (fibrillin 1), located at chromosome 15 position 48513566: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | AATGTCATGGGGTTCCCCATTGCCCTATAAGACAAATTTAAAGCTTGTCATTCAAAGTTCTCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACT... | AATGTCATGGGGTTCCCCATTGCCCTATAAGACAAATTTAAAGCTTGTCATTCAAAGTTCTCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACT... | pathogenic | 233,272 |
The mutation impacting FBN1 (fibrillin 1) on chromosome 15 at position 48513591: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | TATAAGACAAATTTAAAGCTTGTCATTCAAAGTTCTCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTG... | TATAAGACAAATTTAAAGCTTGTCATTCAAAGTTCTCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTG... | pathogenic | 233,277 |
Gene FBN1 (fibrillin 1) variant at chromosome 15, position 48513610—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TTGTCATTCAAAGTTCTCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTC... | TTGTCATTCAAAGTTCTCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTC... | pathogenic | 233,286 |
Variant in gene FBN1 (fibrillin 1), located at chromosome 15 position 48513616: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | TTCAAAGTTCTCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCT... | TTCAAAGTTCTCCTCTACTGTGTTTCTGCCCATCCTTCTATCCCCTTCTACTCGGCCCCTCACTTACTTCCCAGTTATGTGCACAGCCTTTTGGACCATTCTGTGGCAACTTTCATCAGCAAAATAATGTGAGCACGTTCTCAACTTCTTATTTTCAGGATAACCTTAGTGCTAGCTCTTAAAGAAGGCAGTGCTTTAAGTATTCAGGTCATCCTCAGTCTCCAATACTAAGTCTCAGATTGATAACAACCACATACATGAGTTTATACTGGCTGGTCCTTGCCCCAGCTGAGTGCTCTCAATAACCACCTCTCTTTGCT... | pathogenic | 233,288 |
Does the chromosome 15 mutation at position 48516293 within gene FBN1 (fibrillin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GACCCTACTTGTAAACAAGAGGAAGCTAAAATTTAGCAAAGATAACCCACTTGTCCACATGCTTCTTAGTGCCAGATACAGATTTGACCTCACATTCCGCAACCCTGAGTTAGATGTTCCCACTTCTACTCAGCTCTGGATGACCTCTAGAAGGGGTGTTCATATCATCAGGAAATTAAATAGTTTGGGAAAGTAAGAACTCATCATTTCTGACAAATCATAAATTTATAATTATAAAAGTAGAATTCATAACAGAACTAAGAGGTGAACTTATTTTAAAAACAAGTTGATAGGAGCTGAGTGTTCTTATCCAATCCAAA... | GACCCTACTTGTAAACAAGAGGAAGCTAAAATTTAGCAAAGATAACCCACTTGTCCACATGCTTCTTAGTGCCAGATACAGATTTGACCTCACATTCCGCAACCCTGAGTTAGATGTTCCCACTTCTACTCAGCTCTGGATGACCTCTAGAAGGGGTGTTCATATCATCAGGAAATTAAATAGTTTGGGAAAGTAAGAACTCATCATTTCTGACAAATCATAAATTTATAATTATAAAAGTAGAATTCATAACAGAACTAAGAGGTGAACTTATTTTAAAAACAAGTTGATAGGAGCTGAGTGTTCTTATCCAATCCAAA... | pathogenic | 233,334 |
For chromosome 15, position 48516298, gene FBN1 (fibrillin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Marfan_syndrome'] | TACTTGTAAACAAGAGGAAGCTAAAATTTAGCAAAGATAACCCACTTGTCCACATGCTTCTTAGTGCCAGATACAGATTTGACCTCACATTCCGCAACCCTGAGTTAGATGTTCCCACTTCTACTCAGCTCTGGATGACCTCTAGAAGGGGTGTTCATATCATCAGGAAATTAAATAGTTTGGGAAAGTAAGAACTCATCATTTCTGACAAATCATAAATTTATAATTATAAAAGTAGAATTCATAACAGAACTAAGAGGTGAACTTATTTTAAAAACAAGTTGATAGGAGCTGAGTGTTCTTATCCAATCCAAAAATTG... | TACTTGTAAACAAGAGGAAGCTAAAATTTAGCAAAGATAACCCACTTGTCCACATGCTTCTTAGTGCCAGATACAGATTTGACCTCACATTCCGCAACCCTGAGTTAGATGTTCCCACTTCTACTCAGCTCTGGATGACCTCTAGAAGGGGTGTTCATATCATCAGGAAATTAAATAGTTTGGGAAAGTAAGAACTCATCATTTCTGACAAATCATAAATTTATAATTATAAAAGTAGAATTCATAACAGAACTAAGAGGTGAACTTATTTTAAAAACAAGTTGATAGGAGCTGAGTGTTCTTATCCAATCCAAAAATTG... | pathogenic | 233,337 |
Regarding the variant found on chromosome 15 at position 48516324 in gene FBN1 (fibrillin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | TTTAGCAAAGATAACCCACTTGTCCACATGCTTCTTAGTGCCAGATACAGATTTGACCTCACATTCCGCAACCCTGAGTTAGATGTTCCCACTTCTACTCAGCTCTGGATGACCTCTAGAAGGGGTGTTCATATCATCAGGAAATTAAATAGTTTGGGAAAGTAAGAACTCATCATTTCTGACAAATCATAAATTTATAATTATAAAAGTAGAATTCATAACAGAACTAAGAGGTGAACTTATTTTAAAAACAAGTTGATAGGAGCTGAGTGTTCTTATCCAATCCAAAAATTGATTATTCTTTCATTACATTTCCTCCC... | TTTAGCAAAGATAACCCACTTGTCCACATGCTTCTTAGTGCCAGATACAGATTTGACCTCACATTCCGCAACCCTGAGTTAGATGTTCCCACTTCTACTCAGCTCTGGATGACCTCTAGAAGGGGTGTTCATATCATCAGGAAATTAAATAGTTTGGGAAAGTAAGAACTCATCATTTCTGACAAATCATAAATTTATAATTATAAAAGTAGAATTCATAACAGAACTAAGAGGTGAACTTATTTTAAAAACAAGTTGATAGGAGCTGAGTGTTCTTATCCAATCCAAAAATTGATTATTCTTTCATTACATTTCCTCCC... | pathogenic | 233,338 |
Is the genetic change at chromosome 15, position 48520671, within gene FBN1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TTTTTACAGATTTAGTAATCTTCTCATTGCCCCTTTACATTCAGGATCAGCAACGTGGGGCTAATTTTGTTAAGCTGATGTCCATCTTTCCTATCTCCACTTAACCCAAGATGATGCTGATTTATTTTTTAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGAC... | TTTTTACAGATTTAGTAATCTTCTCATTGCCCCTTTACATTCAGGATCAGCAACGTGGGGCTAATTTTGTTAAGCTGATGTCCATCTTTCCTATCTCCACTTAACCCAAGATGATGCTGATTTATTTTTTAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGAC... | pathogenic | 233,348 |
Does the variant impacting FBN1 on chromosome 15, position 48520688, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | ATCTTCTCATTGCCCCTTTACATTCAGGATCAGCAACGTGGGGCTAATTTTGTTAAGCTGATGTCCATCTTTCCTATCTCCACTTAACCCAAGATGATGCTGATTTATTTTTTAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGACAGCTCCCTGTAAAGCCA... | ATCTTCTCATTGCCCCTTTACATTCAGGATCAGCAACGTGGGGCTAATTTTGTTAAGCTGATGTCCATCTTTCCTATCTCCACTTAACCCAAGATGATGCTGATTTATTTTTTAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGACAGCTCCCTGTAAAGCCA... | pathogenic | 233,353 |
Variant in gene FBN1, located at chromosome 15 position 48520795: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome', 'Progeroid_and_marfanoid_aspect-lipodystrophy_syndrome'] | TTTTTTAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGACAGCTCCCTGTAAAGCCACACACAGGAACCTGGTCTTCTGCTCCAACTGTCCCAAAGTAGGTCTTCCTGCAGGCACCTAAACCTGCTCTAGTCCTCTTCTCTATTCAAAGCCTCAACACAGGAAG... | TTTTTTAAAGAGTGAAAAGCTGGCCAATCTAAAATCCTTCCTGCATCACTCTCTGTAAGAGCCCAGATCTCTGTAGCACCAGTACTGGAACATTTGGACAAACAAAAACCTACCTGCAAGTTATTTTGCTCTATAAATCTGTTTTGCCCAAGGCCTCTGAGGGCTGTGCATCTCTCAGTGGTATACCTGGGAGGACAGCTCCCTGTAAAGCCACACACAGGAACCTGGTCTTCTGCTCCAACTGTCCCAAAGTAGGTCTTCCTGCAGGCACCTAAACCTGCTCTAGTCCTCTTCTCTATTCAAAGCCTCAACACAGGAAG... | pathogenic | 233,369 |
Regarding the variant found on chromosome 15 at position 48526139 in gene FBN1 (fibrillin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GAAAGGACATCTTTATGACTCCTAGGAGTCGAAGAGAGAGAACACAACAATATAAAAAGACAACCCTACAGGCAATATTACAAATGCCACAGGAAGATCACAGAACAAGAAATAAAATAATACTAAAAGAGCTTAGAACACAAAGGGAGCTCGGGGCTGGGAGGTCTGAGAGTCTCAGAATGTGGTGGCAGCAGGTGACAGTTGGAATTTTACGGTTAGAAGAAATGTGCACGGAAGATACTGCATACCACTATCTACATAGGAGGTTTTCTATTGGTGAGACCTACTCATTCCAAACAACTGTCTTACGAACAAGCCTT... | GAAAGGACATCTTTATGACTCCTAGGAGTCGAAGAGAGAGAACACAACAATATAAAAAGACAACCCTACAGGCAATATTACAAATGCCACAGGAAGATCACAGAACAAGAAATAAAATAATACTAAAAGAGCTTAGAACACAAAGGGAGCTCGGGGCTGGGAGGTCTGAGAGTCTCAGAATGTGGTGGCAGCAGGTGACAGTTGGAATTTTACGGTTAGAAGAAATGTGCACGGAAGATACTGCATACCACTATCTACATAGGAGGTTTTCTATTGGTGAGACCTACTCATTCCAAACAACTGTCTTACGAACAAGCCTT... | pathogenic | 233,381 |
Does the variant on chromosome 15 at location 48526155 affecting gene FBN1 (fibrillin 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Marfan_syndrome'] | GACTCCTAGGAGTCGAAGAGAGAGAACACAACAATATAAAAAGACAACCCTACAGGCAATATTACAAATGCCACAGGAAGATCACAGAACAAGAAATAAAATAATACTAAAAGAGCTTAGAACACAAAGGGAGCTCGGGGCTGGGAGGTCTGAGAGTCTCAGAATGTGGTGGCAGCAGGTGACAGTTGGAATTTTACGGTTAGAAGAAATGTGCACGGAAGATACTGCATACCACTATCTACATAGGAGGTTTTCTATTGGTGAGACCTACTCATTCCAAACAACTGTCTTACGAACAAGCCTTGGATTTGTTTATACTG... | GACTCCTAGGAGTCGAAGAGAGAGAACACAACAATATAAAAAGACAACCCTACAGGCAATATTACAAATGCCACAGGAAGATCACAGAACAAGAAATAAAATAATACTAAAAGAGCTTAGAACACAAAGGGAGCTCGGGGCTGGGAGGTCTGAGAGTCTCAGAATGTGGTGGCAGCAGGTGACAGTTGGAATTTTACGGTTAGAAGAAATGTGCACGGAAGATACTGCATACCACTATCTACATAGGAGGTTTTCTATTGGTGAGACCTACTCATTCCAAACAACTGTCTTACGAACAAGCCTTGGATTTGTTTATACTG... | pathogenic | 233,385 |
Classify the chromosome 15 variant at position 48526159 affecting gene FBN1 (fibrillin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | CCTAGGAGTCGAAGAGAGAGAACACAACAATATAAAAAGACAACCCTACAGGCAATATTACAAATGCCACAGGAAGATCACAGAACAAGAAATAAAATAATACTAAAAGAGCTTAGAACACAAAGGGAGCTCGGGGCTGGGAGGTCTGAGAGTCTCAGAATGTGGTGGCAGCAGGTGACAGTTGGAATTTTACGGTTAGAAGAAATGTGCACGGAAGATACTGCATACCACTATCTACATAGGAGGTTTTCTATTGGTGAGACCTACTCATTCCAAACAACTGTCTTACGAACAAGCCTTGGATTTGTTTATACTGTCAG... | CCTAGGAGTCGAAGAGAGAGAACACAACAATATAAAAAGACAACCCTACAGGCAATATTACAAATGCCACAGGAAGATCACAGAACAAGAAATAAAATAATACTAAAAGAGCTTAGAACACAAAGGGAGCTCGGGGCTGGGAGGTCTGAGAGTCTCAGAATGTGGTGGCAGCAGGTGACAGTTGGAATTTTACGGTTAGAAGAAATGTGCACGGAAGATACTGCATACCACTATCTACATAGGAGGTTTTCTATTGGTGAGACCTACTCATTCCAAACAACTGTCTTACGAACAAGCCTTGGATTTGTTTATACTGTCAG... | pathogenic | 233,386 |
Assess the variant on chromosome 15, position 48526200, impacting FBN1 (fibrillin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | AACCCTACAGGCAATATTACAAATGCCACAGGAAGATCACAGAACAAGAAATAAAATAATACTAAAAGAGCTTAGAACACAAAGGGAGCTCGGGGCTGGGAGGTCTGAGAGTCTCAGAATGTGGTGGCAGCAGGTGACAGTTGGAATTTTACGGTTAGAAGAAATGTGCACGGAAGATACTGCATACCACTATCTACATAGGAGGTTTTCTATTGGTGAGACCTACTCATTCCAAACAACTGTCTTACGAACAAGCCTTGGATTTGTTTATACTGTCAGGGGCTATTTGTATTTTCTCATCACTACGGATAATTTTGGGG... | AACCCTACAGGCAATATTACAAATGCCACAGGAAGATCACAGAACAAGAAATAAAATAATACTAAAAGAGCTTAGAACACAAAGGGAGCTCGGGGCTGGGAGGTCTGAGAGTCTCAGAATGTGGTGGCAGCAGGTGACAGTTGGAATTTTACGGTTAGAAGAAATGTGCACGGAAGATACTGCATACCACTATCTACATAGGAGGTTTTCTATTGGTGAGACCTACTCATTCCAAACAACTGTCTTACGAACAAGCCTTGGATTTGTTTATACTGTCAGGGGCTATTTGTATTTTCTCATCACTACGGATAATTTTGGGG... | pathogenic | 233,390 |
Chromosome 15, position 48526219, gene FBN1 (fibrillin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | CAAATGCCACAGGAAGATCACAGAACAAGAAATAAAATAATACTAAAAGAGCTTAGAACACAAAGGGAGCTCGGGGCTGGGAGGTCTGAGAGTCTCAGAATGTGGTGGCAGCAGGTGACAGTTGGAATTTTACGGTTAGAAGAAATGTGCACGGAAGATACTGCATACCACTATCTACATAGGAGGTTTTCTATTGGTGAGACCTACTCATTCCAAACAACTGTCTTACGAACAAGCCTTGGATTTGTTTATACTGTCAGGGGCTATTTGTATTTTCTCATCACTACGGATAATTTTGGGGGTCTCTGTTGCTTACCATG... | CAAATGCCACAGGAAGATCACAGAACAAGAAATAAAATAATACTAAAAGAGCTTAGAACACAAAGGGAGCTCGGGGCTGGGAGGTCTGAGAGTCTCAGAATGTGGTGGCAGCAGGTGACAGTTGGAATTTTACGGTTAGAAGAAATGTGCACGGAAGATACTGCATACCACTATCTACATAGGAGGTTTTCTATTGGTGAGACCTACTCATTCCAAACAACTGTCTTACGAACAAGCCTTGGATTTGTTTATACTGTCAGGGGCTATTTGTATTTTCTCATCACTACGGATAATTTTGGGGGTCTCTGTTGCTTACCATG... | pathogenic | 233,392 |
Variant at chromosome 15, position 48526264, gene FBN1 (fibrillin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AAAGAGCTTAGAACACAAAGGGAGCTCGGGGCTGGGAGGTCTGAGAGTCTCAGAATGTGGTGGCAGCAGGTGACAGTTGGAATTTTACGGTTAGAAGAAATGTGCACGGAAGATACTGCATACCACTATCTACATAGGAGGTTTTCTATTGGTGAGACCTACTCATTCCAAACAACTGTCTTACGAACAAGCCTTGGATTTGTTTATACTGTCAGGGGCTATTTGTATTTTCTCATCACTACGGATAATTTTGGGGGTCTCTGTTGCTTACCATGGAGGGAAATAGGAGCACCAGAAGGCAGAAAGGTCACTTGGATCAT... | AAAGAGCTTAGAACACAAAGGGAGCTCGGGGCTGGGAGGTCTGAGAGTCTCAGAATGTGGTGGCAGCAGGTGACAGTTGGAATTTTACGGTTAGAAGAAATGTGCACGGAAGATACTGCATACCACTATCTACATAGGAGGTTTTCTATTGGTGAGACCTACTCATTCCAAACAACTGTCTTACGAACAAGCCTTGGATTTGTTTATACTGTCAGGGGCTATTTGTATTTTCTCATCACTACGGATAATTTTGGGGGTCTCTGTTGCTTACCATGGAGGGAAATAGGAGCACCAGAAGGCAGAAAGGTCACTTGGATCAT... | benign | 233,397 |
Gene FBN1 (fibrillin 1) variant at chromosome 15, position 48534100—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | CCACCATAATAGGTTTCTTAGCATCAATAAAAAGATTCGAATGATTTTTCTTTCAGTCTGAGCATTAAATTAGAATCTTCTGTCTAGTCCACATCCATAGACCATTCCTGTTAATTGACTTGTCTGAATGAAAAGCAAGAGACAAAATCAATTCTACTCAGGCTGGAAGCCATCATAATTTCAGAAAACAAAACACAGACTGGACAAGTCATAAGGACTATACTCCCCTCAATCTTGAAGCTGATTATATATTCTGAAGCTGAATATATTAAACTGAGAAAGCCTAAAAGATAAAACACAACCTATCGTTGATGTAGGTT... | CCACCATAATAGGTTTCTTAGCATCAATAAAAAGATTCGAATGATTTTTCTTTCAGTCTGAGCATTAAATTAGAATCTTCTGTCTAGTCCACATCCATAGACCATTCCTGTTAATTGACTTGTCTGAATGAAAAGCAAGAGACAAAATCAATTCTACTCAGGCTGGAAGCCATCATAATTTCAGAAAACAAAACACAGACTGGACAAGTCATAAGGACTATACTCCCCTCAATCTTGAAGCTGATTATATATTCTGAAGCTGAATATATTAAACTGAGAAAGCCTAAAAGATAAAACACAACCTATCGTTGATGTAGGTT... | pathogenic | 233,400 |
A mutation at chromosome position 48534136 on chromosome 15 in gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TCGAATGATTTTTCTTTCAGTCTGAGCATTAAATTAGAATCTTCTGTCTAGTCCACATCCATAGACCATTCCTGTTAATTGACTTGTCTGAATGAAAAGCAAGAGACAAAATCAATTCTACTCAGGCTGGAAGCCATCATAATTTCAGAAAACAAAACACAGACTGGACAAGTCATAAGGACTATACTCCCCTCAATCTTGAAGCTGATTATATATTCTGAAGCTGAATATATTAAACTGAGAAAGCCTAAAAGATAAAACACAACCTATCGTTGATGTAGGTTTTGCATGTGATAAACTTTAATGGCTTGTTAAGTTAA... | TCGAATGATTTTTCTTTCAGTCTGAGCATTAAATTAGAATCTTCTGTCTAGTCCACATCCATAGACCATTCCTGTTAATTGACTTGTCTGAATGAAAAGCAAGAGACAAAATCAATTCTACTCAGGCTGGAAGCCATCATAATTTCAGAAAACAAAACACAGACTGGACAAGTCATAAGGACTATACTCCCCTCAATCTTGAAGCTGATTATATATTCTGAAGCTGAATATATTAAACTGAGAAAGCCTAAAAGATAAAACACAACCTATCGTTGATGTAGGTTTTGCATGTGATAAACTTTAATGGCTTGTTAAGTTAA... | pathogenic | 233,403 |
Evaluate the clinical significance of the mutation at chromosome 15, position 48534179 in gene FBN1 (fibrillin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | CTGTCTAGTCCACATCCATAGACCATTCCTGTTAATTGACTTGTCTGAATGAAAAGCAAGAGACAAAATCAATTCTACTCAGGCTGGAAGCCATCATAATTTCAGAAAACAAAACACAGACTGGACAAGTCATAAGGACTATACTCCCCTCAATCTTGAAGCTGATTATATATTCTGAAGCTGAATATATTAAACTGAGAAAGCCTAAAAGATAAAACACAACCTATCGTTGATGTAGGTTTTGCATGTGATAAACTTTAATGGCTTGTTAAGTTAATGTCATATATATATGTGTGTGTGTATATAGATATATGTGTGTC... | CTGTCTAGTCCACATCCATAGACCATTCCTGTTAATTGACTTGTCTGAATGAAAAGCAAGAGACAAAATCAATTCTACTCAGGCTGGAAGCCATCATAATTTCAGAAAACAAAACACAGACTGGACAAGTCATAAGGACTATACTCCCCTCAATCTTGAAGCTGATTATATATTCTGAAGCTGAATATATTAAACTGAGAAAGCCTAAAAGATAAAACACAACCTATCGTTGATGTAGGTTTTGCATGTGATAAACTTTAATGGCTTGTTAAGTTAATGTCATATATATATGTGTGTGTGTATATAGATATATGTGTGTC... | pathogenic | 233,406 |
Does the chromosome 15 mutation at position 48534220 within gene FBN1 (fibrillin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGTCTGAATGAAAAGCAAGAGACAAAATCAATTCTACTCAGGCTGGAAGCCATCATAATTTCAGAAAACAAAACACAGACTGGACAAGTCATAAGGACTATACTCCCCTCAATCTTGAAGCTGATTATATATTCTGAAGCTGAATATATTAAACTGAGAAAGCCTAAAAGATAAAACACAACCTATCGTTGATGTAGGTTTTGCATGTGATAAACTTTAATGGCTTGTTAAGTTAATGTCATATATATATGTGTGTGTGTATATAGATATATGTGTGTCTATATAAAGATATGTGTGTGTGTATATGTGTGTGTGTGTGT... | TGTCTGAATGAAAAGCAAGAGACAAAATCAATTCTACTCAGGCTGGAAGCCATCATAATTTCAGAAAACAAAACACAGACTGGACAAGTCATAAGGACTATACTCCCCTCAATCTTGAAGCTGATTATATATTCTGAAGCTGAATATATTAAACTGAGAAAGCCTAAAAGATAAAACACAACCTATCGTTGATGTAGGTTTTGCATGTGATAAACTTTAATGGCTTGTTAAGTTAATGTCATATATATATGTGTGTGTGTATATAGATATATGTGTGTCTATATAAAGATATGTGTGTGTGTATATGTGTGTGTGTGTGT... | benign | 233,411 |
Variant at chromosome 15, position 48534224, gene FBN1 (fibrillin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TGAATGAAAAGCAAGAGACAAAATCAATTCTACTCAGGCTGGAAGCCATCATAATTTCAGAAAACAAAACACAGACTGGACAAGTCATAAGGACTATACTCCCCTCAATCTTGAAGCTGATTATATATTCTGAAGCTGAATATATTAAACTGAGAAAGCCTAAAAGATAAAACACAACCTATCGTTGATGTAGGTTTTGCATGTGATAAACTTTAATGGCTTGTTAAGTTAATGTCATATATATATGTGTGTGTGTATATAGATATATGTGTGTCTATATAAAGATATGTGTGTGTGTATATGTGTGTGTGTGTGTATAT... | TGAATGAAAAGCAAGAGACAAAATCAATTCTACTCAGGCTGGAAGCCATCATAATTTCAGAAAACAAAACACAGACTGGACAAGTCATAAGGACTATACTCCCCTCAATCTTGAAGCTGATTATATATTCTGAAGCTGAATATATTAAACTGAGAAAGCCTAAAAGATAAAACACAACCTATCGTTGATGTAGGTTTTGCATGTGATAAACTTTAATGGCTTGTTAAGTTAATGTCATATATATATGTGTGTGTGTATATAGATATATGTGTGTCTATATAAAGATATGTGTGTGTGTATATGTGTGTGTGTGTGTATAT... | benign | 233,412 |
Mutation found at chromosome 15 position 48537685, gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GCTGTTTATAAGATCTCAACCTGTGTTCTTGAGAAAAGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCAACAGAAAAT... | GCTGTTTATAAGATCTCAACCTGTGTTCTTGAGAAAAGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCAACAGAAAAT... | pathogenic | 233,423 |
Regarding the variant found on chromosome 15 at position 48537685 in gene FBN1 (fibrillin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GCTGTTTATAAGATCTCAACCTGTGTTCTTGAGAAAAGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCAACAGAAAAT... | GCTGTTTATAAGATCTCAACCTGTGTTCTTGAGAAAAGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCAACAGAAAAT... | pathogenic | 233,424 |
Is the variant located on chromosome 15 at position 48537710, gene FBN1 (fibrillin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TTCTTGAGAAAAGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCAACAGAAAATATAGACAAGGCAATTCTCCACTGGC... | TTCTTGAGAAAAGTCAGCATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCAACAGAAAATATAGACAAGGCAATTCTCCACTGGC... | pathogenic | 233,433 |
Classify the chromosome 15 variant at position 48537727 affecting gene FBN1 (fibrillin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | CATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCAACAGAAAATATAGACAAGGCAATTCTCCACTGGCTGTATACTCCAGGTCTG... | CATGCAGTAAAAGGGATATTAAAGAAACAACAATTTAGTTTATTATAAAAGTATCACTTACTGTTTTAAATGAAATATCTTAACCCACAGATACATGATTATATGTGGAAAATCATTAAATTATGTTTTCTAGCCAATTTCAGTTTTGTCTTAGACCAGAATTTTCCATTCTCTTGATGTGTTGAATGTATTTTTTAAAATGTTTTTGAAAATCAAGATTTTTACATATAGGCAGAACTAGCTGTCTTGTTGATCATGATTTCTGGCCAACAGAAAATATAGACAAGGCAATTCTCCACTGGCTGTATACTCCAGGTCTG... | pathogenic | 233,439 |
Variant at chromosome position 48596270, chromosome 15, gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TGGGAAATGACACCCATGTTTTTCTTCTCCCATTGAAGGTCTGGGACTGTACCCGTGGGTAAAACAGGCAGTGGGTAGATGGCACTACCCTTCTGCTACTAACGGGCAAGCCTGCCTTCTGCTCTCCAGTCTCCACTACCACAAATGCCTGAAAATCTGCCACTTGGGGATGAATTTGATTTTGAAAATCACCACTGGGAAAATTCTATGGAGTCAACAGATATTTACACCTTAGTGCAGATTTCAGGATAGCCCTTTTTCCTGAAGGGGAGCAGTTGAAGACACCCCCAAACTTGGAGAAACCTCTGAGTAACATGCCA... | TGGGAAATGACACCCATGTTTTTCTTCTCCCATTGAAGGTCTGGGACTGTACCCGTGGGTAAAACAGGCAGTGGGTAGATGGCACTACCCTTCTGCTACTAACGGGCAAGCCTGCCTTCTGCTCTCCAGTCTCCACTACCACAAATGCCTGAAAATCTGCCACTTGGGGATGAATTTGATTTTGAAAATCACCACTGGGAAAATTCTATGGAGTCAACAGATATTTACACCTTAGTGCAGATTTCAGGATAGCCCTTTTTCCTGAAGGGGAGCAGTTGAAGACACCCCCAAACTTGGAGAAACCTCTGAGTAACATGCCA... | benign | 233,448 |
Assess the variant on chromosome 15, position 48596311, impacting FBN1 (fibrillin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | TGGGACTGTACCCGTGGGTAAAACAGGCAGTGGGTAGATGGCACTACCCTTCTGCTACTAACGGGCAAGCCTGCCTTCTGCTCTCCAGTCTCCACTACCACAAATGCCTGAAAATCTGCCACTTGGGGATGAATTTGATTTTGAAAATCACCACTGGGAAAATTCTATGGAGTCAACAGATATTTACACCTTAGTGCAGATTTCAGGATAGCCCTTTTTCCTGAAGGGGAGCAGTTGAAGACACCCCCAAACTTGGAGAAACCTCTGAGTAACATGCCAGTTTTGATTAGTAGCTTAGTAATTTAACCCATTCAGGACAT... | TGGGACTGTACCCGTGGGTAAAACAGGCAGTGGGTAGATGGCACTACCCTTCTGCTACTAACGGGCAAGCCTGCCTTCTGCTCTCCAGTCTCCACTACCACAAATGCCTGAAAATCTGCCACTTGGGGATGAATTTGATTTTGAAAATCACCACTGGGAAAATTCTATGGAGTCAACAGATATTTACACCTTAGTGCAGATTTCAGGATAGCCCTTTTTCCTGAAGGGGAGCAGTTGAAGACACCCCCAAACTTGGAGAAACCTCTGAGTAACATGCCAGTTTTGATTAGTAGCTTAGTAATTTAACCCATTCAGGACAT... | pathogenic | 233,451 |
A genetic alteration at chromosome 15, position 48596329, in gene FBN1 (fibrillin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Acromicric_dysplasia', 'Ectopia_lentis_1,_isolated,_autosomal_dominant', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Geleophysic_dysplasia_2', 'MASS_syndrome', 'Marfan_syndrome', 'Progeroid_and_marfanoid_aspect-lipodystrophy_syndrome', 'Stiff_skin_syndrome', 'Weill-Marchesani_syndrome_2,_d... | TAAAACAGGCAGTGGGTAGATGGCACTACCCTTCTGCTACTAACGGGCAAGCCTGCCTTCTGCTCTCCAGTCTCCACTACCACAAATGCCTGAAAATCTGCCACTTGGGGATGAATTTGATTTTGAAAATCACCACTGGGAAAATTCTATGGAGTCAACAGATATTTACACCTTAGTGCAGATTTCAGGATAGCCCTTTTTCCTGAAGGGGAGCAGTTGAAGACACCCCCAAACTTGGAGAAACCTCTGAGTAACATGCCAGTTTTGATTAGTAGCTTAGTAATTTAACCCATTCAGGACATTTCTTAATCTTGGACAAA... | TAAAACAGGCAGTGGGTAGATGGCACTACCCTTCTGCTACTAACGGGCAAGCCTGCCTTCTGCTCTCCAGTCTCCACTACCACAAATGCCTGAAAATCTGCCACTTGGGGATGAATTTGATTTTGAAAATCACCACTGGGAAAATTCTATGGAGTCAACAGATATTTACACCTTAGTGCAGATTTCAGGATAGCCCTTTTTCCTGAAGGGGAGCAGTTGAAGACACCCCCAAACTTGGAGAAACCTCTGAGTAACATGCCAGTTTTGATTAGTAGCTTAGTAATTTAACCCATTCAGGACATTTCTTAATCTTGGACAAA... | pathogenic | 233,460 |
The genetic variant at chromosome 15, position 48596362, affecting gene FBN1 (fibrillin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Marfan_syndrome'] | CTGCTACTAACGGGCAAGCCTGCCTTCTGCTCTCCAGTCTCCACTACCACAAATGCCTGAAAATCTGCCACTTGGGGATGAATTTGATTTTGAAAATCACCACTGGGAAAATTCTATGGAGTCAACAGATATTTACACCTTAGTGCAGATTTCAGGATAGCCCTTTTTCCTGAAGGGGAGCAGTTGAAGACACCCCCAAACTTGGAGAAACCTCTGAGTAACATGCCAGTTTTGATTAGTAGCTTAGTAATTTAACCCATTCAGGACATTTCTTAATCTTGGACAAAGATCAAATCTTTGAAGAAATCACTGTGGAATGG... | CTGCTACTAACGGGCAAGCCTGCCTTCTGCTCTCCAGTCTCCACTACCACAAATGCCTGAAAATCTGCCACTTGGGGATGAATTTGATTTTGAAAATCACCACTGGGAAAATTCTATGGAGTCAACAGATATTTACACCTTAGTGCAGATTTCAGGATAGCCCTTTTTCCTGAAGGGGAGCAGTTGAAGACACCCCCAAACTTGGAGAAACCTCTGAGTAACATGCCAGTTTTGATTAGTAGCTTAGTAATTTAACCCATTCAGGACATTTCTTAATCTTGGACAAAGATCAAATCTTTGAAGAAATCACTGTGGAATGG... | pathogenic | 233,468 |
Does the genetic variant at chromosome 15, position 48600139, impacting gene FBN1 (fibrillin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | TCCACACTGTGATCTTTCTCACTGTAAACCTTCGTAAGTGAAGGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGT... | TCCACACTGTGATCTTTCTCACTGTAAACCTTCGTAAGTGAAGGGTAATAAGGTTGGTATTTCACAAGAGTAAACACATGGGCTATGGAGTCAGACTGCTTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGT... | pathogenic | 233,477 |
Variant in FBN1 (fibrillin 1), chromosome 15, position 48600238—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGGCATCAAAACCTGGCCCATGAC... | TTGGGTTCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGGCATCAAAACCTGGCCCATGAC... | benign | 233,492 |
Mutation at chromosome 15, position 48600244, within FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGGCATCAAAACCTGGCCCATGACATCCTA... | TCCAACCCCAACTCTGCCGATTACCATCTATATACCCTTAGAGGAACTACTGAGGTCCCTGTGTTCCAGTTCCCTCATCTGCCAGAGGGTAACATTTATGTCCTCTAATACAAAGAGTTGTTGTCATATTAAATGAGTTAACACACATAGAGTTCTAAAATGTGCCTAGCACACAGTAAGCACAGAGTAACTGAAAAGATGTAGGTTATTGATGTTGTTAGTGTTGTTTATTGTTGTGGTCTCACTCTTCTTTCCTAGCCCTACTTTGGAAGAAAACATAGTATGTATAAAGGCATCAAAACCTGGCCCATGACATCCTA... | benign | 233,493 |
Clinical classification of chromosome 15, position 48644604, gene FBN1 (fibrillin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TATACATATGCCTAAAAGATTTATAGAAAAATACACAAGAAAATGGTCTCTGAAAGGTGGCAGGGAAATACTTTTAATTGTATATATTTTTAAATTATTATTTTCACCCCCGTGTATGTGTGTGTGTGTGTGTGTGTGTATATATATATATCACTTATTATAAAATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCA... | TATACATATGCCTAAAAGATTTATAGAAAAATACACAAGAAAATGGTCTCTGAAAGGTGGCAGGGAAATACTTTTAATTGTATATATTTTTAAATTATTATTTTCACCCCCGTGTATGTGTGTGTGTGTGTGTGTGTGTATATATATATATCACTTATTATAAAATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCA... | pathogenic | 233,526 |
Regarding the variant found on chromosome 15 at position 48644717 in gene FBN1: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | GTATGTGTGTGTGTGTGTGTGTGTGTATATATATATATCACTTATTATAAAATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACAC... | GTATGTGTGTGTGTGTGTGTGTGTGTATATATATATATCACTTATTATAAAATCTTATAATTAACATGAGAATTAGGAACACACATAATTACAATTCTATTAATACCCTGTTTTTAGGAAGGCTTTATAAATAGTTTACAATAGGATAAGGTCTGTGTTAATGATCAAATACTGTGAGGAGCACAGAGAGGTATCTCTCTATAATCACAAACAAATTTAAAACCAGAGAGAAAAAGCACAAGTGTGAGTAAAAGTGTGGCATCCTGTTAAGCAACAAAGTAAAGCTTAGTTTCTTTTTTCACATTCCCAAGGGAACACAC... | pathogenic | 233,537 |
Determine if the mutation at chromosome 15, position 48739002 in gene CEP152 (centrosomal protein 152) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CTAACTGTTGGAGAAGGAGCATTGTATCTTCAGGAATACAAGTGAGACTTTGACAAGATGGTTTGTTCCTTACTATAGCTGTATGTGAATTCAAGCACTGAAGTCCAGGACCAATTTTTAGACTTATTTATCCCTGGTCAAGAGTTAAGGTGACAGAGCTTTCCAAGCCCAAAAAGTTTTCCTTCTCGGTTCTTGCTTTTAGAGATGGTTATCAGGAGGAGGAGGATGCATCTTGCCGTCTCCCCATCACCACCTAAGTTATCTGGCTCTGGGTGGAAAAATACACTAGATTAACCCCCAAATACAATCCATAATATAGT... | CTAACTGTTGGAGAAGGAGCATTGTATCTTCAGGAATACAAGTGAGACTTTGACAAGATGGTTTGTTCCTTACTATAGCTGTATGTGAATTCAAGCACTGAAGTCCAGGACCAATTTTTAGACTTATTTATCCCTGGTCAAGAGTTAAGGTGACAGAGCTTTCCAAGCCCAAAAAGTTTTCCTTCTCGGTTCTTGCTTTTAGAGATGGTTATCAGGAGGAGGAGGATGCATCTTGCCGTCTCCCCATCACCACCTAAGTTATCTGGCTCTGGGTGGAAAAATACACTAGATTAACCCCCAAATACAATCCATAATATAGT... | benign | 233,564 |
Is the genetic mutation found on chromosome 15 at position 48755998, within the gene CEP152 (centrosomal protein 152), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['CEP152-related_disorder', 'Microcephaly_9,_primary,_autosomal_recessive'] | ATTTCCATGAACAATTTTTAAAACTAGAGAGTTAATAAATTATAAATTATAGTTCCTCACATTTACAGCACCTATGTAACAAATTTAAAATCACTGCTCTATAATCATAGCTTTACCTCAAGGTCCTGAGTGAAGATAGCTCGAAAATGGCAGAAGGTCAAGTATTACTTCTATGACAAATTCCAGATTAGGCATTTCAAAGCCATCCTTTTCTCAGGAATGGAATCTGACCCACCCAACAAAAGCCGTAAACATCTAAATTCTTAGCCAGATTATGTGATTCTGTCTCCATAGACTTATGAGCCTCATTAAGTCACACA... | ATTTCCATGAACAATTTTTAAAACTAGAGAGTTAATAAATTATAAATTATAGTTCCTCACATTTACAGCACCTATGTAACAAATTTAAAATCACTGCTCTATAATCATAGCTTTACCTCAAGGTCCTGAGTGAAGATAGCTCGAAAATGGCAGAAGGTCAAGTATTACTTCTATGACAAATTCCAGATTAGGCATTTCAAAGCCATCCTTTTCTCAGGAATGGAATCTGACCCACCCAACAAAAGCCGTAAACATCTAAATTCTTAGCCAGATTATGTGATTCTGTCTCCATAGACTTATGAGCCTCATTAAGTCACACA... | pathogenic | 233,579 |
Variant in CEP152 (centrosomal protein 152), chromosome 15, position 48756035—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['CEP152-related_disorder', 'Microcephaly_9,_primary,_autosomal_recessive'] | AATTATAAATTATAGTTCCTCACATTTACAGCACCTATGTAACAAATTTAAAATCACTGCTCTATAATCATAGCTTTACCTCAAGGTCCTGAGTGAAGATAGCTCGAAAATGGCAGAAGGTCAAGTATTACTTCTATGACAAATTCCAGATTAGGCATTTCAAAGCCATCCTTTTCTCAGGAATGGAATCTGACCCACCCAACAAAAGCCGTAAACATCTAAATTCTTAGCCAGATTATGTGATTCTGTCTCCATAGACTTATGAGCCTCATTAAGTCACACAGATGATCTTATACTGCTTGCACAATTATAAGCCCTGT... | AATTATAAATTATAGTTCCTCACATTTACAGCACCTATGTAACAAATTTAAAATCACTGCTCTATAATCATAGCTTTACCTCAAGGTCCTGAGTGAAGATAGCTCGAAAATGGCAGAAGGTCAAGTATTACTTCTATGACAAATTCCAGATTAGGCATTTCAAAGCCATCCTTTTCTCAGGAATGGAATCTGACCCACCCAACAAAAGCCGTAAACATCTAAATTCTTAGCCAGATTATGTGATTCTGTCTCCATAGACTTATGAGCCTCATTAAGTCACACAGATGATCTTATACTGCTTGCACAATTATAAGCCCTGT... | pathogenic | 233,580 |
The mutation impacting CEP152 (centrosomal protein 152) on chromosome 15 at position 48756075: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['CEP152-related_disorder', 'Microcephaly_9,_primary,_autosomal_recessive', 'Seckel_syndrome_5'] | AACAAATTTAAAATCACTGCTCTATAATCATAGCTTTACCTCAAGGTCCTGAGTGAAGATAGCTCGAAAATGGCAGAAGGTCAAGTATTACTTCTATGACAAATTCCAGATTAGGCATTTCAAAGCCATCCTTTTCTCAGGAATGGAATCTGACCCACCCAACAAAAGCCGTAAACATCTAAATTCTTAGCCAGATTATGTGATTCTGTCTCCATAGACTTATGAGCCTCATTAAGTCACACAGATGATCTTATACTGCTTGCACAATTATAAGCCCTGTAAAAAGACTCCAGGGTTGATTTTATATGTATATATTAATG... | AACAAATTTAAAATCACTGCTCTATAATCATAGCTTTACCTCAAGGTCCTGAGTGAAGATAGCTCGAAAATGGCAGAAGGTCAAGTATTACTTCTATGACAAATTCCAGATTAGGCATTTCAAAGCCATCCTTTTCTCAGGAATGGAATCTGACCCACCCAACAAAAGCCGTAAACATCTAAATTCTTAGCCAGATTATGTGATTCTGTCTCCATAGACTTATGAGCCTCATTAAGTCACACAGATGATCTTATACTGCTTGCACAATTATAAGCCCTGTAAAAAGACTCCAGGGTTGATTTTATATGTATATATTAATG... | pathogenic | 233,581 |
The genetic variant at chromosome 15, position 48756231, affecting gene CEP152 (centrosomal protein 152): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Microcephaly_9,_primary,_autosomal_recessive', 'Seckel_syndrome_5'] | ACCCAACAAAAGCCGTAAACATCTAAATTCTTAGCCAGATTATGTGATTCTGTCTCCATAGACTTATGAGCCTCATTAAGTCACACAGATGATCTTATACTGCTTGCACAATTATAAGCCCTGTAAAAAGACTCCAGGGTTGATTTTATATGTATATATTAATGGTAGGAGAAAGGTGTCATAGTTTCTTGATTTTTATAACAGATTTTATAACTGTTATAAAAATCGAAACATGCTTACAAACGAAAGCATGTAAACATGATTTTCCCATCATTTCTCATCTCCAAATCTGCTATAATTTTTTAATTATATGTTTTCTC... | ACCCAACAAAAGCCGTAAACATCTAAATTCTTAGCCAGATTATGTGATTCTGTCTCCATAGACTTATGAGCCTCATTAAGTCACACAGATGATCTTATACTGCTTGCACAATTATAAGCCCTGTAAAAAGACTCCAGGGTTGATTTTATATGTATATATTAATGGTAGGAGAAAGGTGTCATAGTTTCTTGATTTTTATAACAGATTTTATAACTGTTATAAAAATCGAAACATGCTTACAAACGAAAGCATGTAAACATGATTTTCCCATCATTTCTCATCTCCAAATCTGCTATAATTTTTTAATTATATGTTTTCTC... | pathogenic | 233,583 |
Determine whether the variant at chromosome 15, position 48767445, in gene CEP152 (centrosomal protein 152) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Microcephaly_9,_primary,_autosomal_recessive', 'Seckel_syndrome_5'] | CGTGAAAAATTTAACCTCTAAGTTTGGTTTTTTTTTGAAGGATCAAATAGCAGTTTAACTTTTCTTCTTGGACTTGTGTACAAACACTCATGAGCCAAAATATCAGTCAATAGCAGATACTAATTGTAACTGACCCATTATATGAGATCATATTTTATAGTCAAATTGATTCTATTAAAAGTATCAGAAAATATTCCTGGAATGACCTCTTTGAGAAAATTCCTCTTATGTTCTTGCCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC... | CGTGAAAAATTTAACCTCTAAGTTTGGTTTTTTTTTGAAGGATCAAATAGCAGTTTAACTTTTCTTCTTGGACTTGTGTACAAACACTCATGAGCCAAAATATCAGTCAATAGCAGATACTAATTGTAACTGACCCATTATATGAGATCATATTTTATAGTCAAATTGATTCTATTAAAAGTATCAGAAAATATTCCTGGAATGACCTCTTTGAGAAAATTCCTCTTATGTTCTTGCCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC... | pathogenic | 233,598 |
Evaluate the clinical significance of the mutation at chromosome 15, position 48788818 in gene CEP152 (centrosomal protein 152): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Microcephaly_9,_primary,_autosomal_recessive'] | TCTGAAACCCACCCAGCACAGAATCAAGAATTTGTTCTGACTTTACTGTAGAGTTCTTCTATTGAAGGGGGTGGGGCAGTGGACAACAGAGTAATGCAGTGGGCACAGGGGTAGAAAACACTAGAAATTCCTTCCAATCCATCCCTAATGAAACTGTGTTTAAGTCAACAGAGAATGGAGACCCCCAACCCAATAAGGAAAAGCCACCAGGATCCACTCTTCTCCAGTCATCCAAGAAGGGCTACTGTCCAAGTCCAACTAACTTCAATGTTACCCTATGTTTGGCCAAAACTAACTTTAAAATAAAATAAAATAAAAAT... | TCTGAAACCCACCCAGCACAGAATCAAGAATTTGTTCTGACTTTACTGTAGAGTTCTTCTATTGAAGGGGGTGGGGCAGTGGACAACAGAGTAATGCAGTGGGCACAGGGGTAGAAAACACTAGAAATTCCTTCCAATCCATCCCTAATGAAACTGTGTTTAAGTCAACAGAGAATGGAGACCCCCAACCCAATAAGGAAAAGCCACCAGGATCCACTCTTCTCCAGTCATCCAAGAAGGGCTACTGTCCAAGTCCAACTAACTTCAATGTTACCCTATGTTTGGCCAAAACTAACTTTAAAATAAAATAAAATAAAAAT... | pathogenic | 233,613 |
Located at chromosome 15 position 48791304, the variant affecting gene CEP152 (centrosomal protein 152)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Microcephaly_9,_primary,_autosomal_recessive', 'Seckel_syndrome_5'] | GATTTTGCGCAGCATGATGGATGTGGCTATCAGGCACGGAATCTGCTGATGCCGTGATGGCCCCAGTGCTGTTTGCATTGCTCTATGACCAAAGTGTGGGGTAACCCAATTGTTAGGTCACAGAAAAATGACAACTGTTCCTTGAAAGACTGATGAAACCTGCCAATGGTCACTTACTAAAAACAAAGTTTTCAAAGCTGTAACTGCACAGTTGGTATTGTAGGCAAAATCATAGCCCTCCAAAATGACCGTGTCCTAATCCCCAAAACCTGTGAATCAGTTATATTACATGGCAAGGGAAAATTAAGATTGTATGTGGA... | GATTTTGCGCAGCATGATGGATGTGGCTATCAGGCACGGAATCTGCTGATGCCGTGATGGCCCCAGTGCTGTTTGCATTGCTCTATGACCAAAGTGTGGGGTAACCCAATTGTTAGGTCACAGAAAAATGACAACTGTTCCTTGAAAGACTGATGAAACCTGCCAATGGTCACTTACTAAAAACAAAGTTTTCAAAGCTGTAACTGCACAGTTGGTATTGTAGGCAAAATCATAGCCCTCCAAAATGACCGTGTCCTAATCCCCAAAACCTGTGAATCAGTTATATTACATGGCAAGGGAAAATTAAGATTGTATGTGGA... | pathogenic | 233,615 |
Gene CEP152 (centrosomal protein 152) variant at chromosome position 48797373 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Microcephaly_9,_primary,_autosomal_recessive', 'Seckel_syndrome_5'] | CTGAATATAAACTAATTTATATCAGAGTTGACTAAAAACTGTAAAATCAAAAGAAAAAAGTTGATGATAGTGCTGATGTATTAAATTACACTTCTATATAGTCAAAAATCTGAGATTGAAAACTATGTTTCATTTTCCAAATTAGGCTTCAGTCAAAAAAATATATAAAGTTCATAAAAAGTCTTTTAAAATTTTTTTAAATTTCAAATAAGTCCAGGTATCCTGTATGATAGGCGAGGATACTTAACACTATACAAATAAGGAGAAAAGGCTTAACAAACTAGAATGACTGAAATATAAAGTTGGAAAAATGTCTTTTA... | CTGAATATAAACTAATTTATATCAGAGTTGACTAAAAACTGTAAAATCAAAAGAAAAAAGTTGATGATAGTGCTGATGTATTAAATTACACTTCTATATAGTCAAAAATCTGAGATTGAAAACTATGTTTCATTTTCCAAATTAGGCTTCAGTCAAAAAAATATATAAAGTTCATAAAAAGTCTTTTAAAATTTTTTTAAATTTCAAATAAGTCCAGGTATCCTGTATGATAGGCGAGGATACTTAACACTATACAAATAAGGAGAAAAGGCTTAACAAACTAGAATGACTGAAATATAAAGTTGGAAAAATGTCTTTTA... | pathogenic | 233,623 |
Is chromosome 15, position 48798058, gene CEP152 (centrosomal protein 152) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TCTCATTAGCTCCTAAAAATTGTTGTTGCAGGCCTTCGAATGTGTCACTTCCTGTTATCTCCTGGGCTGGTGAGCCATTATTCTGGGCAGAAGACTGATAAGGTTTATATGTCACTTTATTATACGGTTCCAAACCTTGACAACTGGGACCCTGTGATAACAAATGAAACTGACAATTAAGATTTGGCCTTTTCTTCCAAAATTATCTGAATTAGACACCTAAATTAATGTTACGTTACAGAACTTACTTTTGGTACAGTTCAAAGTTGTTTATATATATACACACACACACACACACACACACACACACACACATATAT... | TCTCATTAGCTCCTAAAAATTGTTGTTGCAGGCCTTCGAATGTGTCACTTCCTGTTATCTCCTGGGCTGGTGAGCCATTATTCTGGGCAGAAGACTGATAAGGTTTATATGTCACTTTATTATACGGTTCCAAACCTTGACAACTGGGACCCTGTGATAACAAATGAAACTGACAATTAAGATTTGGCCTTTTCTTCCAAAATTATCTGAATTAGACACCTAAATTAATGTTACGTTACAGAACTTACTTTTGGTACAGTTCAAAGTTGTTTATATATATACACACACACACACACACACACACACACACACACATATAT... | benign | 233,631 |
Chromosome 15, position 50609732, gene TRPM7 (transient receptor potential cation channel subfamily M member 7): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | ACCACCATAATCATCAAGGAACACATGTTTCCTGCCTCCTTCCTCCCCAAACCAAACAGTATTCCTAAAAAAGACAACTGGGGCACGCCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAAGCCAATGCAGGCAGATCATCTGAGGTCAGGGGTTCGAAACTAGCCTGGCCAACAGGGTGAAACTCCATCTCTACTGAAAAAAAAAAAAAAAAAAAATTAGCCAGACGTGGTGGTGCATGCCTGCAATTCCAGCCACTCGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGTGCAGGTTGCAGTGAGCT... | ACCACCATAATCATCAAGGAACACATGTTTCCTGCCTCCTTCCTCCCCAAACCAAACAGTATTCCTAAAAAAGACAACTGGGGCACGCCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAAGCCAATGCAGGCAGATCATCTGAGGTCAGGGGTTCGAAACTAGCCTGGCCAACAGGGTGAAACTCCATCTCTACTGAAAAAAAAAAAAAAAAAAAATTAGCCAGACGTGGTGGTGCATGCCTGCAATTCCAGCCACTCGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGTGCAGGTTGCAGTGAGCT... | benign | 233,684 |
Evaluate the clinical significance of the mutation at chromosome 15, position 50725330 in gene SPPL2A (signal peptide peptidase like 2A): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TAGGTCTAATAATCCCACTACTGGGTATATATCCAAAGGAACTGAAATCAGTATGTCAAAGAGATATTTGCATTCCCATATTCACTGCAGCATTATTCGCAATAGCCAAGATATGGAAGCAACCTAAGTGTCCATCAACAGATGAATGAATAAAAAAATGTGGTACATACACAGACTGGAATACTATTCAGTTGGGTTTTTTTTGTTTTTTTTTGAGACAGAGTCTCACTGTCACCCAGGTCAGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGTGATTCTCCTGTCTCAGCCTCCCA... | TAGGTCTAATAATCCCACTACTGGGTATATATCCAAAGGAACTGAAATCAGTATGTCAAAGAGATATTTGCATTCCCATATTCACTGCAGCATTATTCGCAATAGCCAAGATATGGAAGCAACCTAAGTGTCCATCAACAGATGAATGAATAAAAAAATGTGGTACATACACAGACTGGAATACTATTCAGTTGGGTTTTTTTTGTTTTTTTTTGAGACAGAGTCTCACTGTCACCCAGGTCAGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGTGATTCTCCTGTCTCAGCCTCCCA... | benign | 233,693 |
Chromosome 15, position 50912197, gene AP4E1 (adaptor related protein complex 4 subunit epsilon 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GCTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGGGCAGGCTGGTCTTGAACTGACCTCAAGTGTTCGCTCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCGGGCCCCCACAGGCGCTCGATGGTTGCACGGATTGTGTAGTATACCGATTCACAGCTACAAGGAGTTTATATCTTAAAAAGAGCACGTGTTAATGTCATTATTTGTTCAACAGATGTTTATGGAACAAGGTTATGTGTTAGACACAGGAAAATAGAATTAAACACATTCCCTTTTCCCAAGGAATTAGTCA... | GCTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGGGCAGGCTGGTCTTGAACTGACCTCAAGTGTTCGCTCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCGGGCCCCCACAGGCGCTCGATGGTTGCACGGATTGTGTAGTATACCGATTCACAGCTACAAGGAGTTTATATCTTAAAAAGAGCACGTGTTAATGTCATTATTTGTTCAACAGATGTTTATGGAACAAGGTTATGTGTTAGACACAGGAAAATAGAATTAAACACATTCCCTTTTCCCAAGGAATTAGTCA... | benign | 233,709 |
Mutation found at chromosome 15 position 50934696, gene AP4E1 (adaptor related protein complex 4 subunit epsilon 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_51', 'Spastic_paraplegia'] | GCTTTACAAAGGGACCATTCTCCAGGCTTTTGCTTCTAGAAATCAACTTAAGGTCAGAATCCATTTGCCTGTGAGCTCCTGACTAGCACTAATTGGGCTACATCACTGTTGGTATTATAGTGTTACTTTTTTCTGTGTTTATGAATCTCAACTACTGATTGAAACCTGCAGTGAAAACGTAAGGTGATGGAGCATGTACACACATTAGAAATGATTGTCTTAATTATATTTTATTTTATATCATGCCAGCCTATCCTAACGTGGAGCTCTAGTTGGAGTTACTGGAATTTATGTTTTAAAATCATGAATTTTATATTAAT... | GCTTTACAAAGGGACCATTCTCCAGGCTTTTGCTTCTAGAAATCAACTTAAGGTCAGAATCCATTTGCCTGTGAGCTCCTGACTAGCACTAATTGGGCTACATCACTGTTGGTATTATAGTGTTACTTTTTTCTGTGTTTATGAATCTCAACTACTGATTGAAACCTGCAGTGAAAACGTAAGGTGATGGAGCATGTACACACATTAGAAATGATTGTCTTAATTATATTTTATTTTATATCATGCCAGCCTATCCTAACGTGGAGCTCTAGTTGGAGTTACTGGAATTTATGTTTTAAAATCATGAATTTTATATTAAT... | pathogenic | 233,719 |
Mutation at chromosome 15, position 50948201, within AP4E1 (adaptor related protein complex 4 subunit epsilon 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TAGTTGATAAAGACTATCTAACTATTTTATCCTTAATCTGCATTCTTTTATTGAAGAATACAGTATTTGCAACTAACTCATTTTTTCCTGTTTTAATTACAGATATACTCTGTATATTCTCTCTGATCTATTATTGTAGACACTGCACATTCAAATTGACATTTAAGACCAAACGTCTCTTATGTTATCTTTAACATTACTTTGAATAATAATTACAATGATGTTTCTTCCTATGATTCCACATAACATTTAGAAGAATGTCAACTTTTTATAACTGAATGTATTTCTAGTGCTTTACTTATATTTGGCTTTTCGACTCT... | TAGTTGATAAAGACTATCTAACTATTTTATCCTTAATCTGCATTCTTTTATTGAAGAATACAGTATTTGCAACTAACTCATTTTTTCCTGTTTTAATTACAGATATACTCTGTATATTCTCTCTGATCTATTATTGTAGACACTGCACATTCAAATTGACATTTAAGACCAAACGTCTCTTATGTTATCTTTAACATTACTTTGAATAATAATTACAATGATGTTTCTTCCTATGATTCCACATAACATTTAGAAGAATGTCAACTTTTTATAACTGAATGTATTTCTAGTGCTTTACTTATATTTGGCTTTTCGACTCT... | benign | 233,725 |
The chromosome 15, position 51000967 genetic variant in gene AP4E1 (adaptor related protein complex 4 subunit epsilon 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TGAAGTTGCCAGTCATCTTCATAATGTAGTTTGTTATTAACTTCCCATATTAGTATGATTTGTGCCACTTCAATTAAATAGAAAATTGGTAGTCATGTAATAGTCTGTATTGATCCCTTCCTTCTTCAACACTTTTATTACTTCTATTTGCAGGTGACTGAGCAACCTGGATGCTGTTTGCCTGTAATGGAAGCAGAAAGCACCAAAAGCTTTCAATATAGTGTGCAGATAGAAAAACCTTTTACAGAAGGAAATCTTACTGGTTTTATTAGTTATCATATGATGGATACTCATTCTGCTCAGCTGGAATTTTCTGTAAA... | TGAAGTTGCCAGTCATCTTCATAATGTAGTTTGTTATTAACTTCCCATATTAGTATGATTTGTGCCACTTCAATTAAATAGAAAATTGGTAGTCATGTAATAGTCTGTATTGATCCCTTCCTTCTTCAACACTTTTATTACTTCTATTTGCAGGTGACTGAGCAACCTGGATGCTGTTTGCCTGTAATGGAAGCAGAAAGCACCAAAAGCTTTCAATATAGTGTGCAGATAGAAAAACCTTTTACAGAAGGAAATCTTACTGGTTTTATTAGTTATCATATGATGGATACTCATTCTGCTCAGCTGGAATTTTCTGTAAA... | benign | 233,741 |
A mutation at chromosome position 51001141 on chromosome 15 in gene AP4E1 (adaptor related protein complex 4 subunit epsilon 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Spastic_paraplegia', 'Stuttering'] | TGTTTGCCTGTAATGGAAGCAGAAAGCACCAAAAGCTTTCAATATAGTGTGCAGATAGAAAAACCTTTTACAGAAGGAAATCTTACTGGTTTTATTAGTTATCATATGATGGATACTCATTCTGCTCAGCTGGAATTTTCTGTAAACTTATCACTATTAGATTTCATTAGGTAAATGTTTTGTGAAATGTTAATTCAAGTTGTTAATTCACCAACTATTTTTTAGACCTCTTCTCTGGATGGAGGCACTATGTTGGGTGCTAGGGAGTATAACAGTTAAAAACTACGCACAGTTCCTACGTTAGAGGAATTTCTAGTCTA... | TGTTTGCCTGTAATGGAAGCAGAAAGCACCAAAAGCTTTCAATATAGTGTGCAGATAGAAAAACCTTTTACAGAAGGAAATCTTACTGGTTTTATTAGTTATCATATGATGGATACTCATTCTGCTCAGCTGGAATTTTCTGTAAACTTATCACTATTAGATTTCATTAGGTAAATGTTTTGTGAAATGTTAATTCAAGTTGTTAATTCACCAACTATTTTTTAGACCTCTTCTCTGGATGGAGGCACTATGTTGGGTGCTAGGGAGTATAACAGTTAAAAACTACGCACAGTTCCTACGTTAGAGGAATTTCTAGTCTA... | pathogenic | 233,743 |
Is the chromosome 15, position 51400449 variant in GLDN (gliomedin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['GLDN-related_disorder', 'Lethal_congenital_contracture_syndrome_11'] | GTGATGCTAGGACTTCTCTCCCAAAGGGGTGACCTAGGATCCGTCATCTAACTGAAACTATGAGGAGGGCCACTTGCGGCCATCTCCTCAATGGCACTCATAAGGAGGATCCTCACTGGAATTTCTCAGCCTTGCTGTGGCCATTGCTGTCATTTTCCTAAACAGTCTTGAGTTCTGTTTGGTGCACTGTTCTTTCTGGAAGACGTTTGGGGGCGCACGGTCAGCTGTCAAAATGGGCGAATCTGTGCTTTCGAAGATGGCACCATCCCCCTCCCCAACTCAGTGGAGCCTGATTATAATTCTGCAATGTGAGACCACGG... | GTGATGCTAGGACTTCTCTCCCAAAGGGGTGACCTAGGATCCGTCATCTAACTGAAACTATGAGGAGGGCCACTTGCGGCCATCTCCTCAATGGCACTCATAAGGAGGATCCTCACTGGAATTTCTCAGCCTTGCTGTGGCCATTGCTGTCATTTTCCTAAACAGTCTTGAGTTCTGTTTGGTGCACTGTTCTTTCTGGAAGACGTTTGGGGGCGCACGGTCAGCTGTCAAAATGGGCGAATCTGTGCTTTCGAAGATGGCACCATCCCCCTCCCCAACTCAGTGGAGCCTGATTATAATTCTGCAATGTGAGACCACGG... | pathogenic | 233,814 |
Is chromosome 15, position 51463501, gene DMXL2 (Dmx like 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | ATAAATCATTAATTTTAATAATTTGAAGAACAAAACACTCAGAAAATTGATCACTCAATGAACTGGTTTTCTGTGAATAACAGAGCCCCTAATTGACCAGAAATCTTATTGATTAAGACAGGGTCTCACTTTGTTACCCAGGATGGAGTGCAGTGGTGTGTGATCTCAGCTCACTACAACCTCCACCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCCTGCAAGTAGCTGGGATTACAAGCATACACCATCACACCTGGATAATTGTTTTGTATCTTTTGTAGAGACGGGGTTTCACCATGTTGCCAAGCTGGTCTCA... | ATAAATCATTAATTTTAATAATTTGAAGAACAAAACACTCAGAAAATTGATCACTCAATGAACTGGTTTTCTGTGAATAACAGAGCCCCTAATTGACCAGAAATCTTATTGATTAAGACAGGGTCTCACTTTGTTACCCAGGATGGAGTGCAGTGGTGTGTGATCTCAGCTCACTACAACCTCCACCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCCTGCAAGTAGCTGGGATTACAAGCATACACCATCACACCTGGATAATTGTTTTGTATCTTTTGTAGAGACGGGGTTTCACCATGTTGCCAAGCTGGTCTCA... | benign | 233,838 |
Classify the chromosome 15 variant at position 51466148 affecting gene DMXL2 (Dmx like 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CTGACAATAAGAACATAAATATGCCATACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACCAGGGACTGCTTGAGCCTAGGAGTTTGAGACCAGTGTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAAAAATTAGCCGATGGCGCTCGCCTGTTGTTCCAGCTACTCAGGAGGCAGAGGTGAAAAAGATGGGTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGAGATTGCACCACTGCTCTCCATCCTGGGTGACAGAGTGAGACCTTGTCTCTTGTCTCAAACAAACAAACA... | CTGACAATAAGAACATAAATATGCCATACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACCAGGGACTGCTTGAGCCTAGGAGTTTGAGACCAGTGTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAAAAATTAGCCGATGGCGCTCGCCTGTTGTTCCAGCTACTCAGGAGGCAGAGGTGAAAAAGATGGGTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGAGATTGCACCACTGCTCTCCATCCTGGGTGACAGAGTGAGACCTTGTCTCTTGTCTCAAACAAACAAACA... | benign | 233,840 |
Evaluate this variant at chromosome 15, position 51478259, gene DMXL2 (Dmx like 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | ACATAAATTTACACGCCCGAGAACAACTAACTGTATTTTCTATGGTATGTCTGTGAAAATATGTCTGTGATTTTCTAAGACTCTAATTTAACATTTCTAAGAAAGATAATGTGCTCCATCCTTATGAAGGATGTTAAGACATTGCTTTTTTATGTTGGTTAACATAGCTGGTTTTATGAAGCCTTAACTTCCTGAGTCTTCAGACAATATTGCAGTACTTAATAGTTCCTAATCCATAGCAGAAAAACATCATCAAAAAACAAAGAAAGAAAGGAACCACTCACTAAATCCAGCAACAAGCAGGAAACTGGTCAGTAGGC... | ACATAAATTTACACGCCCGAGAACAACTAACTGTATTTTCTATGGTATGTCTGTGAAAATATGTCTGTGATTTTCTAAGACTCTAATTTAACATTTCTAAGAAAGATAATGTGCTCCATCCTTATGAAGGATGTTAAGACATTGCTTTTTTATGTTGGTTAACATAGCTGGTTTTATGAAGCCTTAACTTCCTGAGTCTTCAGACAATATTGCAGTACTTAATAGTTCCTAATCCATAGCAGAAAAACATCATCAAAAAACAAAGAAAGAAAGGAACCACTCACTAAATCCAGCAACAAGCAGGAAACTGGTCAGTAGGC... | benign | 233,852 |
Is the genetic variant on chromosome 15, position 51499463, gene DMXL2 (Dmx like 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['DMXL2-related_disorder'] | CTCAGATGAGTCCCTTAATTTCTTAAGGATCAGTGTCTTCATCTATAAAGTTAAACATAATAATAGCTATCTGCTAGAAGACTGTGATAATTAAATATGATAAAGTAAAGAAAGTGCCTGAAACATAGCAATTTTTCACTCCTCCAAAATATTTATTGAATTAATGAAATTCTGATCATTAATTTTCAGTTTCCTTTGCCAATGCCATCATTTACAATCAACACCATTACCCTGAACTATGTGCATAAAAGAGAATGGAATCTAGTTCCAGGAAGCAGCCAAAAATTTTCTAGTTACAGAATGAATTAGGCAAAATACGT... | CTCAGATGAGTCCCTTAATTTCTTAAGGATCAGTGTCTTCATCTATAAAGTTAAACATAATAATAGCTATCTGCTAGAAGACTGTGATAATTAAATATGATAAAGTAAAGAAAGTGCCTGAAACATAGCAATTTTTCACTCCTCCAAAATATTTATTGAATTAATGAAATTCTGATCATTAATTTTCAGTTTCCTTTGCCAATGCCATCATTTACAATCAACACCATTACCCTGAACTATGTGCATAAAAGAGAATGGAATCTAGTTCCAGGAAGCAGCCAAAAATTTTCTAGTTACAGAATGAATTAGGCAAAATACGT... | pathogenic | 233,879 |
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