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 |
|---|---|---|---|---|---|
Evaluate if the mutation on chromosome 17 at position 13005906 in ELAC2 (elaC ribonuclease Z 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CCACTCATACGGGTCCAACCTGCAAAGCCAGACCCAGGCTCTCCCTGCCTCCTCCTGCTCCCTCTCTCCTTCCTCTCTCACAGTCAAATTTCCTCGAATAAACCTCCTGCACCTCCAATGCCACCCTGGTGTCTGCCTTCCAGAGGACCTGAGACACAGGCACGAGAAATGAAAATCATCTGAAATTTCACCACCTGGACAACAGACCACTTACTAACATGCTGATGTGTTTCCCTCCAGTTCCCTTTAAAAAGAAATATACACAGTAGCTATTTTTATCTATCCCAGCATCATCACACATCCACACATGGCTCTCAAAT... | CCACTCATACGGGTCCAACCTGCAAAGCCAGACCCAGGCTCTCCCTGCCTCCTCCTGCTCCCTCTCTCCTTCCTCTCTCACAGTCAAATTTCCTCGAATAAACCTCCTGCACCTCCAATGCCACCCTGGTGTCTGCCTTCCAGAGGACCTGAGACACAGGCACGAGAAATGAAAATCATCTGAAATTTCACCACCTGGACAACAGACCACTTACTAACATGCTGATGTGTTTCCCTCCAGTTCCCTTTAAAAAGAAATATACACAGTAGCTATTTTTATCTATCCCAGCATCATCACACATCCACACATGGCTCTCAAAT... | benign | 264,651 |
Evaluate this variant at chromosome 17, position 13014471, gene ELAC2 (elaC ribonuclease Z 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_17'] | GGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAACT... | GGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAACT... | pathogenic | 264,667 |
Does the variant on chromosome 17 at location 13016933 affecting gene ELAC2 (elaC ribonuclease Z 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_17', 'Inborn_genetic_diseases'] | ATATAGGCAGCAATTAGAAGAGGCAGAGGGAACCCGCGGAAGGGCGAAAGTCCTGAAGTGGCCAGGGAGTTAGAGGGACATAAGAGTCAGCCCATGCAGCTGCAGTTCAGCGATGGGTACAGATGGAAGTGTGGGTAGCGGCCGGGGCCTACAGGACTTGTAGGCCATATCAAGGTGTTTTGATTGTATTGCAATGGGGAGCCCATGAAGGGCTTTAGGGTGGCAAGTGACACACTACTTTTCTGTCTTGAAGTGACCTCTCTGGCTGCTGTGTGGCAGATGGATTACAGGAAGGCGAGAATGAATATGGGAGGCTATTG... | ATATAGGCAGCAATTAGAAGAGGCAGAGGGAACCCGCGGAAGGGCGAAAGTCCTGAAGTGGCCAGGGAGTTAGAGGGACATAAGAGTCAGCCCATGCAGCTGCAGTTCAGCGATGGGTACAGATGGAAGTGTGGGTAGCGGCCGGGGCCTACAGGACTTGTAGGCCATATCAAGGTGTTTTGATTGTATTGCAATGGGGAGCCCATGAAGGGCTTTAGGGTGGCAAGTGACACACTACTTTTCTGTCTTGAAGTGACCTCTCTGGCTGCTGTGTGGCAGATGGATTACAGGAAGGCGAGAATGAATATGGGAGGCTATTG... | pathogenic | 264,674 |
Variant at chromosome position 14076967, chromosome 17, gene COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Mitochondrial_complex_4_deficiency,_nuclear_type_3'] | ATTTTCTAGCATTTTATAATAGACATTGATAACATAAGTCAATCCAGGTTGACTCCATGAATTTGTGGGCAATATGGAACTTACTATTAATTGCCAGGAAGGCCATTTGCATTTTCTCAGATGGAAAAGGGTCATAGAATGGCAAAATGATAGCTGAAAACTCATAGTGCCAGCCTGAAAGAACGGCAGACTTATAATTTAAAGTCCTATTTTACATTTCTCTCATCTTTAACTTAAAACTTTAAATTAAAATCTTAATAAAACTCGATATGTTGATAAGAGATTTAAATTTCTAGAAATGTTCAGGCTTTTTAAGTTGG... | ATTTTCTAGCATTTTATAATAGACATTGATAACATAAGTCAATCCAGGTTGACTCCATGAATTTGTGGGCAATATGGAACTTACTATTAATTGCCAGGAAGGCCATTTGCATTTTCTCAGATGGAAAAGGGTCATAGAATGGCAAAATGATAGCTGAAAACTCATAGTGCCAGCCTGAAAGAACGGCAGACTTATAATTTAAAGTCCTATTTTACATTTCTCTCATCTTTAACTTAAAACTTTAAATTAAAATCTTAATAAAACTCGATATGTTGATAAGAGATTTAAATTTCTAGAAATGTTCAGGCTTTTTAAGTTGG... | pathogenic | 264,704 |
Assess the variant on chromosome 17, position 14206798, impacting COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CACATGCTCAGCACTCTTATACGTTAAGATCCTCTGTGGCTTTCTGTTGCTTTTAGAATAGCAAAGTCAAGGCTGAGTGCAGTGGCTCATGCCTGTAATCTCTGTACTTTGAGAGGCTGAGGCAGGAGGATTGCTTGGGGCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAGTTGTTTTAAAAAGTTTTCTGAGTTTGGTGACGTGCACCTATAGTGCCAGCTATTCAGGAGGCTGAGGCAGGAGGATGACTTGAGCCCAAGAGATCGAGGCTGCAGTGAGCTGAGACTGTGCCACT... | CACATGCTCAGCACTCTTATACGTTAAGATCCTCTGTGGCTTTCTGTTGCTTTTAGAATAGCAAAGTCAAGGCTGAGTGCAGTGGCTCATGCCTGTAATCTCTGTACTTTGAGAGGCTGAGGCAGGAGGATTGCTTGGGGCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAGTTGTTTTAAAAAGTTTTCTGAGTTTGGTGACGTGCACCTATAGTGCCAGCTATTCAGGAGGCTGAGGCAGGAGGATGACTTGAGCCCAAGAGATCGAGGCTGCAGTGAGCTGAGACTGTGCCACT... | benign | 264,728 |
Regarding the variant found on chromosome 17 at position 14206798 in gene COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CACATGCTCAGCACTCTTATACGTTAAGATCCTCTGTGGCTTTCTGTTGCTTTTAGAATAGCAAAGTCAAGGCTGAGTGCAGTGGCTCATGCCTGTAATCTCTGTACTTTGAGAGGCTGAGGCAGGAGGATTGCTTGGGGCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAGTTGTTTTAAAAAGTTTTCTGAGTTTGGTGACGTGCACCTATAGTGCCAGCTATTCAGGAGGCTGAGGCAGGAGGATGACTTGAGCCCAAGAGATCGAGGCTGCAGTGAGCTGAGACTGTGCCACT... | CACATGCTCAGCACTCTTATACGTTAAGATCCTCTGTGGCTTTCTGTTGCTTTTAGAATAGCAAAGTCAAGGCTGAGTGCAGTGGCTCATGCCTGTAATCTCTGTACTTTGAGAGGCTGAGGCAGGAGGATTGCTTGGGGCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAGTTGTTTTAAAAAGTTTTCTGAGTTTGGTGACGTGCACCTATAGTGCCAGCTATTCAGGAGGCTGAGGCAGGAGGATGACTTGAGCCCAAGAGATCGAGGCTGCAGTGAGCTGAGACTGTGCCACT... | benign | 264,729 |
Clinical significance of chromosome 17, position 14207351, gene COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGTCACCACTCTCTCCAGCTCAGCTGAGACATCCCTTCCTCAGAGAAGCCACCTCTGGTCCCCTAGACTCAGTCAGCTCCTCTTATGTGTCTTCACTGCACCATGCACTTTTCCTCACTGCATTTGGAGTGGTGACTTTAGAGTCACTAGTGTGGCTCTTGATGTCTACCTCCTTGACTGAAGGGTCTGCTCGGTGCAGGCAGGAGCACGTGTGGATTGTTGCTCGCCATGGTATCCCCAGTGCCTAGCACGGTGCTTACCCCATAGTAGGCGCCCGGGGAGCATTTTTTGCGCGAGTACTCAGTCACCTGCACAGGAAT... | AGTCACCACTCTCTCCAGCTCAGCTGAGACATCCCTTCCTCAGAGAAGCCACCTCTGGTCCCCTAGACTCAGTCAGCTCCTCTTATGTGTCTTCACTGCACCATGCACTTTTCCTCACTGCATTTGGAGTGGTGACTTTAGAGTCACTAGTGTGGCTCTTGATGTCTACCTCCTTGACTGAAGGGTCTGCTCGGTGCAGGCAGGAGCACGTGTGGATTGTTGCTCGCCATGGTATCCCCAGTGCCTAGCACGGTGCTTACCCCATAGTAGGCGCCCGGGGAGCATTTTTTGCGCGAGTACTCAGTCACCTGCACAGGAAT... | benign | 264,739 |
Regarding the variant found on chromosome 17 at position 15230797 in gene PMP22 (peripheral myelin protein 22): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | AATGTCTCTCCTACATGCTCTTTCAAATATACCTCTGTTGTAACATATGTGATAACCACTCTAATCTATAGAGTCTTTCTAGGTACTAGTCACTATGCTGAACACTTTATCCATATAACTTCCTTGAAATCCCCTCAGCCCTATACCCTTGTTATTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCAC... | AATGTCTCTCCTACATGCTCTTTCAAATATACCTCTGTTGTAACATATGTGATAACCACTCTAATCTATAGAGTCTTTCTAGGTACTAGTCACTATGCTGAACACTTTATCCATATAACTTCCTTGAAATCCCCTCAGCCCTATACCCTTGTTATTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCAC... | benign | 264,762 |
Gene PMP22 (peripheral myelin protein 22) variant at chromosome 17, position 15230965—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Charcot-Marie-Tooth_disease,_type_I', 'Charcot-Marie-Tooth_disease,_type_IA', 'Charcot-Marie-Tooth_disease_type_1E', 'Dejerine-Sottas_disease', 'Guillain-Barre_syndrome,_familial', 'Hereditary_liability_to_pressure_palsies', 'Inborn_genetic_diseases', 'Roussy-Lévy_syndrome'] | TTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAG... | TTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAG... | pathogenic | 264,772 |
Is chromosome 17, position 15230966, gene PMP22 (peripheral myelin protein 22) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Charcot-Marie-Tooth_disease'] | TATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGA... | TATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATATGGACGCATGAGA... | pathogenic | 264,773 |
Does the variant on chromosome 17 at location 15239508 affecting gene PMP22 (peripheral myelin protein 22) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease,_type_I', 'Charcot-Marie-Tooth_disease,_type_IA', 'Charcot-Marie-Tooth_disease_type_2E', 'Hereditary_liability_to_pressure_palsies'] | CTTATAGTACAGGCTTGTATTCATCACAGATGTTTGGAACTTCAGAATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTT... | CTTATAGTACAGGCTTGTATTCATCACAGATGTTTGGAACTTCAGAATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTT... | pathogenic | 264,792 |
Evaluate if the mutation on chromosome 17 at position 15239508 in PMP22 (peripheral myelin protein 22) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease,_type_I', 'Charcot-Marie-Tooth_disease,_type_IA', 'Charcot-Marie-Tooth_disease_type_1E'] | CTTATAGTACAGGCTTGTATTCATCACAGATGTTTGGAACTTCAGAATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTT... | CTTATAGTACAGGCTTGTATTCATCACAGATGTTTGGAACTTCAGAATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTT... | pathogenic | 264,793 |
Clinical significance of chromosome 17, position 15259133, gene PMP22 (peripheral myelin protein 22): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease,_type_I'] | CAACGAGGCAGATTTGAAACCCACACTAAGGAGGCATTGTAAATGAACTCAAGAACATGAGCTTGGCACAGAAGGAACAAGTTGAGAGATAAGAAGTTTCCTGATTAAAATAACCCTAGTGCCTCTTTGAGATCTGCTTCTAGCACCAACTGACAGCTATTTCCAACGGCAGAAGACACCAAATGTCAATCTGTAACATGCTACAGGTCAATATTGCTTTCTTTCCTGCAGATGGTTTAAGCACAACTTAGCAACTCCTCTGCCGCCTCGTTTCTGCTGAAACTTCGCCGGGTTTTAACACGCCTGCCAAAACTGCCCCC... | CAACGAGGCAGATTTGAAACCCACACTAAGGAGGCATTGTAAATGAACTCAAGAACATGAGCTTGGCACAGAAGGAACAAGTTGAGAGATAAGAAGTTTCCTGATTAAAATAACCCTAGTGCCTCTTTGAGATCTGCTTCTAGCACCAACTGACAGCTATTTCCAACGGCAGAAGACACCAAATGTCAATCTGTAACATGCTACAGGTCAATATTGCTTTCTTTCCTGCAGATGGTTTAAGCACAACTTAGCAACTCCTCTGCCGCCTCGTTTCTGCTGAAACTTCGCCGGGTTTTAACACGCCTGCCAAAACTGCCCCC... | pathogenic | 264,805 |
Is the genetic variant on chromosome 17, position 15981113, gene ZSWIM7 (zinc finger SWIM-type containing 7), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Non-obstructive_azoospermia', 'Ovarian_dysgenesis_10', 'Spermatogenic_failure_71'] | AGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTATCAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAAAGTCTCCCATGTCTA... | AGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTATCAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAAAGTCTCCCATGTCTA... | pathogenic | 264,827 |
Is the genetic change at chromosome 17, position 16006489, within gene TTC19 (tetratricopeptide repeat domain 19) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mitochondrial_complex_III_deficiency_nuclear_type_2'] | CATCAGCCTGCCTAGTGGGGCACACAACATCTCTGGCTGCCCTGTGACAAAACTAACTAAGTTTTCTGTTGCTGCTTGAAGTGGGAAGGGAAGTTAGAGTTAGAACTTTAGTTTAACTTTTCCTAGAAGAGGAAAGAGCAGTGTGAAAGCTGCTGGGGATAATATATTAATACTCTGAAGAAGCCATTTTGCTGGTATAAATAGAGTTCAAAGATGAAGCATCTAGGTTGTAAGCAGAGAACTCCTCTAGAGAGTTGTATTTGGGATGAATTTAGGGAGAGACCTAAGACTAGCTTCCCTTCAGGTTTTAGTGGTGCAGA... | CATCAGCCTGCCTAGTGGGGCACACAACATCTCTGGCTGCCCTGTGACAAAACTAACTAAGTTTTCTGTTGCTGCTTGAAGTGGGAAGGGAAGTTAGAGTTAGAACTTTAGTTTAACTTTTCCTAGAAGAGGAAAGAGCAGTGTGAAAGCTGCTGGGGATAATATATTAATACTCTGAAGAAGCCATTTTGCTGGTATAAATAGAGTTCAAAGATGAAGCATCTAGGTTGTAAGCAGAGAACTCCTCTAGAGAGTTGTATTTGGGATGAATTTAGGGAGAGACCTAAGACTAGCTTCCCTTCAGGTTTTAGTGGTGCAGA... | pathogenic | 264,852 |
Does the variant on chromosome 17 at location 16026523 affecting gene TTC19 (tetratricopeptide repeat domain 19) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGTGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTACGTTGAATTCTTTAAATTCAGCTTGTGACTTTGCACTTCAGGATTCTGAGTGTTCTCTGTCTTCTTCCTGCATTGTTTTTCTTATACCATACAGGTTTTTCATTGGCCTTGACTTTTTGTTGTTAACTCATTCTTCTTTGGGTTTATTTTCATTTGTTTCTGCTGAATATTATTTGTTTCAAACTA... | TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGTGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTACGTTGAATTCTTTAAATTCAGCTTGTGACTTTGCACTTCAGGATTCTGAGTGTTCTCTGTCTTCTTCCTGCATTGTTTTTCTTATACCATACAGGTTTTTCATTGGCCTTGACTTTTTGTTGTTAACTCATTCTTCTTTGGGTTTATTTTCATTTGTTTCTGCTGAATATTATTTGTTTCAAACTA... | benign | 264,862 |
Variant in TNFRSF13B (TNF receptor superfamily member 13B), chromosome 17, position 16939458—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CTGGGTACCTTGTGTTTTCAACACCCCTAAAACCCCGGCTGTTCCAGAGGCACCTACAGAGCCCCTTGGGTTCAGACGAGCAGAACTTGAAACCATGGATCGGAAGGAATAGAAATCTGCATATCTTTCACACAAGCCGTAACATTCTAAGCCGCATATTTGCAGGACGCTGACGTGGGGCTACTTCACCCACAGCCAGCAAGCGTCTGCGCCAGTTCTGGGATTTGTGTCCACCTTGTTGTAAGAAGGCAGCTGCTTGCGTGAGGCATGGCGGTGAGGAAACAATGCCACCCGGATCTCACCATTGGCCGTGTGGACTG... | CTGGGTACCTTGTGTTTTCAACACCCCTAAAACCCCGGCTGTTCCAGAGGCACCTACAGAGCCCCTTGGGTTCAGACGAGCAGAACTTGAAACCATGGATCGGAAGGAATAGAAATCTGCATATCTTTCACACAAGCCGTAACATTCTAAGCCGCATATTTGCAGGACGCTGACGTGGGGCTACTTCACCCACAGCCAGCAAGCGTCTGCGCCAGTTCTGGGATTTGTGTCCACCTTGTTGTAAGAAGGCAGCTGCTTGCGTGAGGCATGGCGGTGAGGAAACAATGCCACCCGGATCTCACCATTGGCCGTGTGGACTG... | benign | 264,897 |
Clinical significance of chromosome 17, position 16940375, gene TNFRSF13B (TNF receptor superfamily member 13B): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Immunodeficiency,_common_variable,_2'] | CTTTGGTGGGTGCAGGTTTGCAAGATAATTTTAGGAGGTGCAGGGTGCATAATTTCAATGTACATTATTATGGATTTATCTTACTGTGAAAATGCTTCTAAGAATAGTTTACTTAAGGTTTACATGCTACTCAAGATATAGCTTTAAATGCTAACAAAAAGTGGACTCAAATGAAAACATTCTCTTGCTGTGGTCCAGGGAATCTTGATGTTTTTTCCAGAGAGACTCGCAGCTTTCAGCTACAGCTGCCCTCCCCTTCCTGTCCACTGCACATCCCCACAACACACACACATATACATACATACATGCACAGACATCCA... | CTTTGGTGGGTGCAGGTTTGCAAGATAATTTTAGGAGGTGCAGGGTGCATAATTTCAATGTACATTATTATGGATTTATCTTACTGTGAAAATGCTTCTAAGAATAGTTTACTTAAGGTTTACATGCTACTCAAGATATAGCTTTAAATGCTAACAAAAAGTGGACTCAAATGAAAACATTCTCTTGCTGTGGTCCAGGGAATCTTGATGTTTTTTCCAGAGAGACTCGCAGCTTTCAGCTACAGCTGCCCTCCCCTTCCTGTCCACTGCACATCCCCACAACACACACACATATACATACATACATGCACAGACATCCA... | pathogenic | 264,904 |
Variant chromosome 17, position 16972026, gene TNFRSF13B (TNF receptor superfamily member 13B): benign or pathogenic? Disease(s)? | pathogenic; ['Immunodeficiency,_common_variable,_2'] | AGGGCAGCCTTGGAGATGTTCCAAGACCCATTCATTGCCTGGACCAAAGCCACCAAAAGCCACTGGACCTGACAGAGAGACAGTGCCTGACTGACCAGACAGCAGATGCCAAGCTGACCAGAGGGCCTGTCCCCGCCCCCTCCTCTACCACCATGTGGACCTACATAAAATCCCAGAACCATCATCAAGTGCCAAAGGAGGGCAGGAAAACCCCATGACTGACACCAGCCAGGCAGAATAGAAGCTTGAGAGAGAAGCTTCGTTGATGGAAAGGGAAGAAAGGGAACACCTCTCTGACACTAGCTGTGTGGGCTGGGCTC... | AGGGCAGCCTTGGAGATGTTCCAAGACCCATTCATTGCCTGGACCAAAGCCACCAAAAGCCACTGGACCTGACAGAGAGACAGTGCCTGACTGACCAGACAGCAGATGCCAAGCTGACCAGAGGGCCTGTCCCCGCCCCCTCCTCTACCACCATGTGGACCTACATAAAATCCCAGAACCATCATCAAGTGCCAAAGGAGGGCAGGAAAACCCCATGACTGACACCAGCCAGGCAGAATAGAAGCTTGAGAGAGAAGCTTCGTTGATGGAAAGGGAAGAAAGGGAACACCTCTCTGACACTAGCTGTGTGGGCTGGGCTC... | pathogenic | 264,926 |
A mutation at chromosome position 17213772 on chromosome 17 in gene FLCN (folliculin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGTTTGCTTCTCTCCAACACCAACTCCAACGACTAACTTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTC... | GTGTTTGCTTCTCTCCAACACCAACTCCAACGACTAACTTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTC... | pathogenic | 264,968 |
Regarding the variant found on chromosome 17 at position 17213778 in gene FLCN (folliculin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTTCTCTCCAACACCAACTCCAACGACTAACTTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTC... | GCTTCTCTCCAACACCAACTCCAACGACTAACTTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTC... | pathogenic | 264,970 |
Determine whether the variant at chromosome 17, position 17213779, in gene FLCN (folliculin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTTCTCTCCAACACCAACTCCAACGACTAACTTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTCC... | CTTCTCTCCAACACCAACTCCAACGACTAACTTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTCC... | pathogenic | 264,971 |
Variant chromosome 17, position 17213793, gene FLCN (folliculin): benign or pathogenic? Disease(s)? | pathogenic; ['Birt-Hogg-Dube_syndrome_1', 'Colorectal_cancer', 'Familial_spontaneous_pneumothorax', 'Nonpapillary_renal_cell_carcinoma'] | CAACTCCAACGACTAACTTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTCCTGACCTCGTGATCC... | CAACTCCAACGACTAACTTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTCCTGACCTCGTGATCC... | pathogenic | 264,975 |
A genetic alteration at chromosome 17, position 17213795, in gene FLCN (folliculin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | ACTCCAACGACTAACTTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTCCTGACCTCGTGATCCGC... | ACTCCAACGACTAACTTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTCCTGACCTCGTGATCCGC... | pathogenic | 264,976 |
Is the genetic variant on chromosome 17, position 17213796, gene FLCN (folliculin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCCAACGACTAACTTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTCCTGACCTCGTGATCCGCC... | CTCCAACGACTAACTTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTCCTGACCTCGTGATCCGCC... | pathogenic | 264,978 |
Does the variant on chromosome 17 at location 17213810 affecting gene FLCN (folliculin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCC... | TTGGAGAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCC... | pathogenic | 264,980 |
Does the variant on chromosome 17 at location 17213815 affecting gene FLCN (folliculin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'Colorectal_cancer', 'Familial_spontaneous_pneumothorax', 'Hereditary_cancer-predisposing_syndrome', 'Nonpapillary_renal_cell_carcinoma'] | GAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGT... | GAAGATTGTCTACGATCATTATAGCAGCTTAACTGTGCGAATTGGCCACTCACTGGTATTTTGTTTTGTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATCTGTCACCATGCCTGGCTAATTTTTTATATTTTTAGTACAGACAGGGTTTCACCGTATTAGCCAGGATGGTGTCGATCTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGT... | pathogenic | 264,981 |
Does the variant on chromosome 17 at location 17214992 affecting gene FLCN (folliculin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGTCAGATGCTTGCCGACCCCTCAGCAACCTGTCTTGTGCAAAAATGATCAGGGACTCCATCATTAAGCCCCAGGTTACCTTCACCAGCACCTGCAGGGGAACACCCCAGAAGACGAGCCCCATGGCTTCAGAACACACATTTCAGAGGACCAAAAGATGAGGAAGAGATCCACTTCACTCCCCAAAGTCTCTTGCGGAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACG... | AAGTCAGATGCTTGCCGACCCCTCAGCAACCTGTCTTGTGCAAAAATGATCAGGGACTCCATCATTAAGCCCCAGGTTACCTTCACCAGCACCTGCAGGGGAACACCCCAGAAGACGAGCCCCATGGCTTCAGAACACACATTTCAGAGGACCAAAAGATGAGGAAGAGATCCACTTCACTCCCCAAAGTCTCTTGCGGAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACG... | pathogenic | 265,000 |
Regarding the variant found on chromosome 17 at position 17214998 in gene FLCN (folliculin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'FLCN-related_disorder', 'Hereditary_cancer-predisposing_syndrome'] | GATGCTTGCCGACCCCTCAGCAACCTGTCTTGTGCAAAAATGATCAGGGACTCCATCATTAAGCCCCAGGTTACCTTCACCAGCACCTGCAGGGGAACACCCCAGAAGACGAGCCCCATGGCTTCAGAACACACATTTCAGAGGACCAAAAGATGAGGAAGAGATCCACTTCACTCCCCAAAGTCTCTTGCGGAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAA... | GATGCTTGCCGACCCCTCAGCAACCTGTCTTGTGCAAAAATGATCAGGGACTCCATCATTAAGCCCCAGGTTACCTTCACCAGCACCTGCAGGGGAACACCCCAGAAGACGAGCCCCATGGCTTCAGAACACACATTTCAGAGGACCAAAAGATGAGGAAGAGATCCACTTCACTCCCCAAAGTCTCTTGCGGAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAA... | pathogenic | 265,002 |
The mutation impacting FLCN (folliculin) on chromosome 17 at position 17215032: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | CAAAAATGATCAGGGACTCCATCATTAAGCCCCAGGTTACCTTCACCAGCACCTGCAGGGGAACACCCCAGAAGACGAGCCCCATGGCTTCAGAACACACATTTCAGAGGACCAAAAGATGAGGAAGAGATCCACTTCACTCCCCAAAGTCTCTTGCGGAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACT... | CAAAAATGATCAGGGACTCCATCATTAAGCCCCAGGTTACCTTCACCAGCACCTGCAGGGGAACACCCCAGAAGACGAGCCCCATGGCTTCAGAACACACATTTCAGAGGACCAAAAGATGAGGAAGAGATCCACTTCACTCCCCAAAGTCTCTTGCGGAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACT... | pathogenic | 265,013 |
Variant at chromosome 17, position 17215082, gene FLCN (folliculin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Birt-Hogg-Dube_syndrome'] | ACCTGCAGGGGAACACCCCAGAAGACGAGCCCCATGGCTTCAGAACACACATTTCAGAGGACCAAAAGATGAGGAAGAGATCCACTTCACTCCCCAAAGTCTCTTGCGGAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCAC... | ACCTGCAGGGGAACACCCCAGAAGACGAGCCCCATGGCTTCAGAACACACATTTCAGAGGACCAAAAGATGAGGAAGAGATCCACTTCACTCCCCAAAGTCTCTTGCGGAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCAC... | pathogenic | 265,025 |
Regarding the variant at chromosome 17 and position 17215098, affecting gene FLCN (folliculin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CCCAGAAGACGAGCCCCATGGCTTCAGAACACACATTTCAGAGGACCAAAAGATGAGGAAGAGATCCACTTCACTCCCCAAAGTCTCTTGCGGAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGC... | CCCAGAAGACGAGCCCCATGGCTTCAGAACACACATTTCAGAGGACCAAAAGATGAGGAAGAGATCCACTTCACTCCCCAAAGTCTCTTGCGGAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGC... | benign | 265,030 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 17215104, gene FLCN (folliculin): what disease(s) if pathogenic? | benign | AGACGAGCCCCATGGCTTCAGAACACACATTTCAGAGGACCAAAAGATGAGGAAGAGATCCACTTCACTCCCCAAAGTCTCTTGCGGAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTG... | AGACGAGCCCCATGGCTTCAGAACACACATTTCAGAGGACCAAAAGATGAGGAAGAGATCCACTTCACTCCCCAAAGTCTCTTGCGGAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTG... | benign | 265,034 |
The mutation in gene FLCN (folliculin) at chromosome 17, position 17215190—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_spontaneous_pneumothorax', 'Hereditary_cancer-predisposing_syndrome'] | GAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAA... | GAGCCCTAACTCAATCACTCAGTGACCAAGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAA... | pathogenic | 265,046 |
Gene FLCN (folliculin) variant at chromosome position 17215218 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | AGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACA... | AGAGCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACA... | pathogenic | 265,052 |
For chromosome 17, position 17215221, gene FLCN (folliculin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | GCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAG... | GCTGGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAG... | pathogenic | 265,053 |
Mutation at chromosome 17, position 17215224, within FLCN (folliculin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCC... | GGCAATGTACTGAATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCC... | pathogenic | 265,054 |
Assess the variant on chromosome 17, position 17215236, impacting FLCN (folliculin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACA... | AATATTCACAACTGCAGCAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACA... | pathogenic | 265,059 |
Chromosome 17, position 17215253, gene FLCN (folliculin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Colorectal_cancer', 'Familial_spontaneous_pneumothorax', 'Hereditary_cancer-predisposing_syndrome', 'Nonpapillary_renal_cell_carcinoma', 'Potocki-Lupski_syndrome'] | CAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCT... | CAAAAGGTACCCTCAAACATAAGGCCCAGAAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCT... | pathogenic | 265,062 |
Variant on chromosome 17, at position 17215282, affecting FLCN (folliculin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | AAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCTGATGGTTTCCCTTCCTTGCTGGGACACAG... | AAACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCTGATGGTTTCCCTTCCTTGCTGGGACACAG... | pathogenic | 265,069 |
Evaluate this variant at chromosome 17, position 17215284, gene FLCN (folliculin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCTGATGGTTTCCCTTCCTTGCTGGGACACAGCT... | ACTCTTGCTGAATTTCAAAGTAGAAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCTGATGGTTTCCCTTCCTTGCTGGGACACAGCT... | pathogenic | 265,070 |
Variant at chromosome 17, position 17215307, gene FLCN (folliculin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCTGATGGTTTCCCTTCCTTGCTGGGACACAGCTCCTTCCAGCAGTTGAGAAACTCA... | AAACGCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCTGATGGTTTCCCTTCCTTGCTGGGACACAGCTCCTTCCAGCAGTTGAGAAACTCA... | pathogenic | 265,080 |
Considering the genetic mutation at chromosome 17, position 17215311, impacting FLCN (folliculin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCTGATGGTTTCCCTTCCTTGCTGGGACACAGCTCCTTCCAGCAGTTGAGAAACTCAAGGG... | GCTTGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCTGATGGTTTCCCTTCCTTGCTGGGACACAGCTCCTTCCAGCAGTTGAGAAACTCAAGGG... | pathogenic | 265,082 |
Is the chromosome 17, position 17215314 variant in FLCN (folliculin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | TGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCTGATGGTTTCCCTTCCTTGCTGGGACACAGCTCCTTCCAGCAGTTGAGAAACTCAAGGGACA... | TGAATGTTAACCTCGGGAGCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCTGATGGTTTCCCTTCCTTGCTGGGACACAGCTCCTTCCAGCAGTTGAGAAACTCAAGGGACA... | pathogenic | 265,083 |
Is the chromosome 17, position 17215332 variant in FLCN (folliculin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCTGATGGTTTCCCTTCCTTGCTGGGACACAGCTCCTTCCAGCAGTTGAGAAACTCAAGGGACAGTCCCTCTCACGGGGCTG... | GCAGACATGTTATTGCGACTGCATACTGAGTCGGACCTGTTTCTCCTGCGGGTTTTGAGTCTAAGTCCACAAGGGGCCTGGGAGGCAAGCTGTCCTCCTAGTCGTCTCTCCAAGGAGTTTGAACACAGAGAGAGCCCATCATCCCTCCGCCTTTCATTGCCATCTTCAGCGATTCCAACGGCTGGAGGGAGAGTCTGGGAAGCACACAGGCCCCAAACCTGACAGGGCCGAGCCCAGCCCTGATGGTTTCCCTTCCTTGCTGGGACACAGCTCCTTCCAGCAGTTGAGAAACTCAAGGGACAGTCCCTCTCACGGGGCTG... | benign | 265,088 |
Assess the variant on chromosome 17, position 17216384, impacting FLCN (folliculin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Birt-Hogg-Dube_syndrome'] | CTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGG... | CTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGG... | pathogenic | 265,104 |
Evaluate this variant at chromosome 17, position 17216392, gene FLCN (folliculin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAG... | CCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAG... | pathogenic | 265,105 |
The mutation in gene FLCN (folliculin) at chromosome 17, position 17216393—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGG... | CAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGG... | pathogenic | 265,107 |
Benign or pathogenic: chromosome 17, position 17216394, gene FLCN (folliculin) variant? Disease(s) if pathogenic? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'Colorectal_cancer', 'FLCN-related_disorder', 'Familial_spontaneous_pneumothorax', 'Hereditary_cancer-predisposing_syndrome', 'Nonpapillary_renal_cell_carcinoma', 'Potocki-Lupski_syndrome'] | AGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGT... | AGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGT... | pathogenic | 265,108 |
Evaluate the clinical significance of the mutation at chromosome 17, position 17216394 in gene FLCN (folliculin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'Colorectal_cancer', 'FLCN-related_disorder', 'Familial_spontaneous_pneumothorax', 'Hereditary_cancer-predisposing_syndrome', 'Nonpapillary_renal_cell_carcinoma'] | AGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGT... | AGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGT... | pathogenic | 265,109 |
Gene FLCN (folliculin) variant at chromosome 17, position 17216414—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | TGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGC... | TGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGC... | pathogenic | 265,119 |
Gene mutation in FLCN (folliculin) at chromosome 17, position 17216427—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCT... | AAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCT... | pathogenic | 265,123 |
Does the variant on chromosome 17 at location 17216446 affecting gene FLCN (folliculin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | AGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTG... | AGCCTGGCCAACATGCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTG... | pathogenic | 265,132 |
Is the chromosome 17, position 17216460 variant in FLCN (folliculin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTGTGAGCTTGGAGCCC... | GCTAAAACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTGTGAGCTTGGAGCCC... | pathogenic | 265,139 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 17216466, gene FLCN (folliculin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTGTGAGCTTGGAGCCCTTGCCC... | ACCCTGTCTCTACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTGTGAGCTTGGAGCCCTTGCCC... | pathogenic | 265,142 |
Clinical significance of chromosome 17, position 17216476, gene FLCN (folliculin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Familial_spontaneous_pneumothorax', 'Hereditary_cancer-predisposing_syndrome'] | TACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTGTGAGCTTGGAGCCCTTGCCCAAGCCTCAGT... | TACTAAAAATACAAATATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTGTGAGCTTGGAGCCCTTGCCCAAGCCTCAGT... | pathogenic | 265,144 |
Variant on chromosome 17, at position 17216491, affecting FLCN (folliculin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | TATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTGTGAGCTTGGAGCCCTTGCCCAAGCCTCAGTCGCTCTCCAAGGCAG... | TATTAGCCAGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTGTGAGCTTGGAGCCCTTGCCCAAGCCTCAGTCGCTCTCCAAGGCAG... | pathogenic | 265,149 |
Evaluate the clinical significance of the mutation at chromosome 17, position 17216500 in gene FLCN (folliculin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTGTGAGCTTGGAGCCCTTGCCCAAGCCTCAGTCGCTCTCCAAGGCAGGCGCCACCC... | GGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTGTGAGCTTGGAGCCCTTGCCCAAGCCTCAGTCGCTCTCCAAGGCAGGCGCCACCC... | pathogenic | 265,151 |
Chromosome 17, position 17216505, gene FLCN (folliculin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'FLCN-related_disorder', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | GGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTGTGAGCTTGGAGCCCTTGCCCAAGCCTCAGTCGCTCTCCAAGGCAGGCGCCACCCCCACC... | GGTGGTGGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCCAAACTCTGACTCAAAAAAAATAAAAAATAAAAATAAAATAAAATAAAAAGCGGGGTGGGGCATGGGTTACTGGGCTTTTAGGTTTTGAAGTTAATTGCACAGCAGATGACAGAGCTTCCATTATGAACCCTCCTGTGAGCTTGGAGCCCTTGCCCAAGCCTCAGTCGCTCTCCAAGGCAGGCGCCACCCCCACC... | pathogenic | 265,156 |
Considering the genetic mutation at chromosome 17, position 17217084, impacting FLCN (folliculin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | GACAGGTTCTGGTTGGTCAGAGCCGCTTCAATCTTATTCAGGATGGTGGGGCCCACTGGGGAGAAGGGCAGGGGCAGAGCAAGGGCAGGCGTTAGCGCGGGGCGGGGGCATCTTCTCACAAAAAGGACACTCTGCCTGGGGGCACCCACCTCGGTCTGCAGCTACAGGGCTCCCACTGGTCACCACAAACTCGTACTTGCTGAGAGACTGGTCATCCTCACACCCCACAGGGTGGAGGGTGGAACGTGCGGCTGCGTGGACCTCCACGATGACAGCAAACTCTGTAACAACACAAGGCCCGTGGCTCCTCATCTCCCCCA... | GACAGGTTCTGGTTGGTCAGAGCCGCTTCAATCTTATTCAGGATGGTGGGGCCCACTGGGGAGAAGGGCAGGGGCAGAGCAAGGGCAGGCGTTAGCGCGGGGCGGGGGCATCTTCTCACAAAAAGGACACTCTGCCTGGGGGCACCCACCTCGGTCTGCAGCTACAGGGCTCCCACTGGTCACCACAAACTCGTACTTGCTGAGAGACTGGTCATCCTCACACCCCACAGGGTGGAGGGTGGAACGTGCGGCTGCGTGGACCTCCACGATGACAGCAAACTCTGTAACAACACAAGGCCCGTGGCTCCTCATCTCCCCCA... | pathogenic | 265,174 |
The genetic variant at chromosome 17, position 17217091, affecting gene FLCN (folliculin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTGGTTGGTCAGAGCCGCTTCAATCTTATTCAGGATGGTGGGGCCCACTGGGGAGAAGGGCAGGGGCAGAGCAAGGGCAGGCGTTAGCGCGGGGCGGGGGCATCTTCTCACAAAAAGGACACTCTGCCTGGGGGCACCCACCTCGGTCTGCAGCTACAGGGCTCCCACTGGTCACCACAAACTCGTACTTGCTGAGAGACTGGTCATCCTCACACCCCACAGGGTGGAGGGTGGAACGTGCGGCTGCGTGGACCTCCACGATGACAGCAAACTCTGTAACAACACAAGGCCCGTGGCTCCTCATCTCCCCCATGCTCCT... | TCTGGTTGGTCAGAGCCGCTTCAATCTTATTCAGGATGGTGGGGCCCACTGGGGAGAAGGGCAGGGGCAGAGCAAGGGCAGGCGTTAGCGCGGGGCGGGGGCATCTTCTCACAAAAAGGACACTCTGCCTGGGGGCACCCACCTCGGTCTGCAGCTACAGGGCTCCCACTGGTCACCACAAACTCGTACTTGCTGAGAGACTGGTCATCCTCACACCCCACAGGGTGGAGGGTGGAACGTGCGGCTGCGTGGACCTCCACGATGACAGCAAACTCTGTAACAACACAAGGCCCGTGGCTCCTCATCTCCCCCATGCTCCT... | pathogenic | 265,176 |
Is the variant located on chromosome 17 at position 17217105, gene FLCN (folliculin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Birt-Hogg-Dube_syndrome'] | GCCGCTTCAATCTTATTCAGGATGGTGGGGCCCACTGGGGAGAAGGGCAGGGGCAGAGCAAGGGCAGGCGTTAGCGCGGGGCGGGGGCATCTTCTCACAAAAAGGACACTCTGCCTGGGGGCACCCACCTCGGTCTGCAGCTACAGGGCTCCCACTGGTCACCACAAACTCGTACTTGCTGAGAGACTGGTCATCCTCACACCCCACAGGGTGGAGGGTGGAACGTGCGGCTGCGTGGACCTCCACGATGACAGCAAACTCTGTAACAACACAAGGCCCGTGGCTCCTCATCTCCCCCATGCTCCTCACCTCCCCTGCGC... | GCCGCTTCAATCTTATTCAGGATGGTGGGGCCCACTGGGGAGAAGGGCAGGGGCAGAGCAAGGGCAGGCGTTAGCGCGGGGCGGGGGCATCTTCTCACAAAAAGGACACTCTGCCTGGGGGCACCCACCTCGGTCTGCAGCTACAGGGCTCCCACTGGTCACCACAAACTCGTACTTGCTGAGAGACTGGTCATCCTCACACCCCACAGGGTGGAGGGTGGAACGTGCGGCTGCGTGGACCTCCACGATGACAGCAAACTCTGTAACAACACAAGGCCCGTGGCTCCTCATCTCCCCCATGCTCCTCACCTCCCCTGCGC... | pathogenic | 265,179 |
Does the genetic variant at chromosome 17, position 17217142, impacting gene FLCN (folliculin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGAGAAGGGCAGGGGCAGAGCAAGGGCAGGCGTTAGCGCGGGGCGGGGGCATCTTCTCACAAAAAGGACACTCTGCCTGGGGGCACCCACCTCGGTCTGCAGCTACAGGGCTCCCACTGGTCACCACAAACTCGTACTTGCTGAGAGACTGGTCATCCTCACACCCCACAGGGTGGAGGGTGGAACGTGCGGCTGCGTGGACCTCCACGATGACAGCAAACTCTGTAACAACACAAGGCCCGTGGCTCCTCATCTCCCCCATGCTCCTCACCTCCCCTGCGCTAGCCCACCGTGGGCCCCACTCCGCTCATCCCAGGTC... | GGGAGAAGGGCAGGGGCAGAGCAAGGGCAGGCGTTAGCGCGGGGCGGGGGCATCTTCTCACAAAAAGGACACTCTGCCTGGGGGCACCCACCTCGGTCTGCAGCTACAGGGCTCCCACTGGTCACCACAAACTCGTACTTGCTGAGAGACTGGTCATCCTCACACCCCACAGGGTGGAGGGTGGAACGTGCGGCTGCGTGGACCTCCACGATGACAGCAAACTCTGTAACAACACAAGGCCCGTGGCTCCTCATCTCCCCCATGCTCCTCACCTCCCCTGCGCTAGCCCACCGTGGGCCCCACTCCGCTCATCCCAGGTC... | pathogenic | 265,185 |
Does the variant on chromosome 17 at location 17219037 affecting gene FLCN (folliculin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | CACCTTGGCATCCCCACCTGACGCCAGGCACCAGGCCAATACTGCCCTGCGCCGCACACCTAAGGAAAAGATGTTCTCACCCGAAGTACTTCAAAAGCTGACTGGACGAGGTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACT... | CACCTTGGCATCCCCACCTGACGCCAGGCACCAGGCCAATACTGCCCTGCGCCGCACACCTAAGGAAAAGATGTTCTCACCCGAAGTACTTCAAAAGCTGACTGGACGAGGTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACT... | pathogenic | 265,210 |
Is chromosome 17, position 17219042, gene FLCN (folliculin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGGCATCCCCACCTGACGCCAGGCACCAGGCCAATACTGCCCTGCGCCGCACACCTAAGGAAAAGATGTTCTCACCCGAAGTACTTCAAAAGCTGACTGGACGAGGTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCT... | TGGCATCCCCACCTGACGCCAGGCACCAGGCCAATACTGCCCTGCGCCGCACACCTAAGGAAAAGATGTTCTCACCCGAAGTACTTCAAAAGCTGACTGGACGAGGTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCT... | pathogenic | 265,212 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 17219059, gene FLCN (folliculin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCAGGCACCAGGCCAATACTGCCCTGCGCCGCACACCTAAGGAAAAGATGTTCTCACCCGAAGTACTTCAAAAGCTGACTGGACGAGGTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTG... | GCCAGGCACCAGGCCAATACTGCCCTGCGCCGCACACCTAAGGAAAAGATGTTCTCACCCGAAGTACTTCAAAAGCTGACTGGACGAGGTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTG... | pathogenic | 265,219 |
Assess the variant on chromosome 17, position 17219066, impacting FLCN (folliculin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACCAGGCCAATACTGCCCTGCGCCGCACACCTAAGGAAAAGATGTTCTCACCCGAAGTACTTCAAAAGCTGACTGGACGAGGTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCC... | ACCAGGCCAATACTGCCCTGCGCCGCACACCTAAGGAAAAGATGTTCTCACCCGAAGTACTTCAAAAGCTGACTGGACGAGGTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCC... | pathogenic | 265,221 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 17219126, gene FLCN (folliculin): what disease(s) if pathogenic? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Familial_spontaneous_pneumothorax', 'Hereditary_cancer-predisposing_syndrome'] | TTCAAAAGCTGACTGGACGAGGTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAG... | TTCAAAAGCTGACTGGACGAGGTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAG... | pathogenic | 265,237 |
Variant in gene FLCN (folliculin), located at chromosome 17 position 17219133: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | GCTGACTGGACGAGGTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGC... | GCTGACTGGACGAGGTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGC... | pathogenic | 265,240 |
Located at chromosome 17 position 17219147, the variant affecting gene FLCN (folliculin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | GTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGCTCCAAGATCTTTCT... | GTCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGCTCCAAGATCTTTCT... | pathogenic | 265,245 |
Variant in gene FLCN (folliculin), located at chromosome 17 position 17219148: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | TCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGCTCCAAGATCTTTCTC... | TCCACGTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGCTCCAAGATCTTTCTC... | pathogenic | 265,247 |
Gene FLCN (folliculin) variant at chromosome 17, position 17219153—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | GTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGCTCCAAGATCTTTCTCCCAGT... | GTCTCTGCTTTTCCAGATCACCTGGTTCCCCATGAGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGCTCCAAGATCTTTCTCCCAGT... | pathogenic | 265,249 |
Evaluate this variant at chromosome 17, position 17219187, gene FLCN (folliculin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'FLCN-related_disorder', 'Hereditary_cancer-predisposing_syndrome'] | AGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGCTCCAAGATCTTTCTCCCAGTTTTGTTTTTAAAAATTTGAAGCAAAAAGATGTTA... | AGAACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGCTCCAAGATCTTTCTCCCAGTTTTGTTTTTAAAAATTTGAAGCAAAAAGATGTTA... | pathogenic | 265,254 |
Assess the variant on chromosome 17, position 17219190, impacting FLCN (folliculin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGCTCCAAGATCTTTCTCCCAGTTTTGTTTTTAAAAATTTGAAGCAAAAAGATGTTAACT... | ACGTGCCAGGCCAGCATGCGGAAAGAAGGGGCACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGCTCCAAGATCTTTCTCCCAGTTTTGTTTTTAAAAATTTGAAGCAAAAAGATGTTAACT... | pathogenic | 265,255 |
Is the chromosome 17, position 17219222 variant in FLCN (folliculin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | ACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGCTCCAAGATCTTTCTCCCAGTTTTGTTTTTAAAAATTTGAAGCAAAAAGATGTTAACTTTGTGCAATATTCACCTTCTCTCTACAGACAC... | ACCCAGGACCTAAACAAGAGAGTGCAGTGCTTTCAGCGTGACTAGTAGAAATGGTTTTTCTCTCCCTTCCCATGAAGTTATTTGTGTGTTCATAAAACTTTGTAGAGCAAAGACAGGGCTCAGGAGAAAGACACTTATCTTCTCAGGGAGGCGGGTGCCCGGCCCAGGGTTAAAGGGGCAGAGAGAGAAGTTCCAGGTTTGCACATAAATGCTAGATTCCAAAGCTCTTGCTCCAAGATCTTTCTCCCAGTTTTGTTTTTAAAAATTTGAAGCAAAAAGATGTTAACTTTGTGCAATATTCACCTTCTCTCTACAGACAC... | benign | 265,267 |
Regarding the variant found on chromosome 17 at position 17221358 in gene FLCN (folliculin): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TGGCTGCGGCCAGGTCCTATGCTCCCTGCTCCCTGTTGCTCTGGGAGCCCTGGGGTGGGAGGGAGGGCTCAGTTGCTGTCTACTTAGCCCGGGGTACCACACATCTCTCTTAGAAGCACTTATGGAAAGACCGTCAGCTGTTCTCTGCTGGTGAGAAAACTCAAATCAGTAAGAAAAATGCCAACAGCGTGTCTACGGAACACACCCAGTCGGCCACAGTTCTCGAGGATCTACACGTTGTTTCTTTTTTTTCCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCACAGGCTGGAGTGCAGTGG... | TGGCTGCGGCCAGGTCCTATGCTCCCTGCTCCCTGTTGCTCTGGGAGCCCTGGGGTGGGAGGGAGGGCTCAGTTGCTGTCTACTTAGCCCGGGGTACCACACATCTCTCTTAGAAGCACTTATGGAAAGACCGTCAGCTGTTCTCTGCTGGTGAGAAAACTCAAATCAGTAAGAAAAATGCCAACAGCGTGTCTACGGAACACACCCAGTCGGCCACAGTTCTCGAGGATCTACACGTTGTTTCTTTTTTTTCCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCACAGGCTGGAGTGCAGTGG... | benign | 265,270 |
A mutation at chromosome position 17221528 on chromosome 17 in gene FLCN (folliculin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AAGAAAAATGCCAACAGCGTGTCTACGGAACACACCCAGTCGGCCACAGTTCTCGAGGATCTACACGTTGTTTCTTTTTTTTCCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCACAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCCCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATGTCCGGCTAACTTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTTATCTGCCAGGCTGGTCTCAAACT... | AAGAAAAATGCCAACAGCGTGTCTACGGAACACACCCAGTCGGCCACAGTTCTCGAGGATCTACACGTTGTTTCTTTTTTTTCCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCACAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCCCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATGTCCGGCTAACTTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTTATCTGCCAGGCTGGTCTCAAACT... | benign | 265,275 |
Is the chromosome 17, position 17221609 variant in FLCN (folliculin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | TCCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCACAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCCCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATGTCCGGCTAACTTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTTATCTGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCCCCGACCTCGGCCTCCCGGTCCACTTTTGTTTTAGCTTGAGGGCGTACGTGTGCGGCTTTGTTAC... | TCCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCACAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCCCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATGTCCGGCTAACTTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTTATCTGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCCCCGACCTCGGCCTCCCGGTCCACTTTTGTTTTAGCTTGAGGGCGTACGTGTGCGGCTTTGTTAC... | pathogenic | 265,301 |
Evaluate the clinical significance of the mutation at chromosome 17, position 17221615 in gene FLCN (folliculin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_renal_cancer'] | TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCACAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCCCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATGTCCGGCTAACTTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTTATCTGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCCCCGACCTCGGCCTCCCGGTCCACTTTTGTTTTAGCTTGAGGGCGTACGTGTGCGGCTTTGTTACAAGGGT... | TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCACAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCCCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATGTCCGGCTAACTTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCACCGTTATCTGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCCCCGACCTCGGCCTCCCGGTCCACTTTTGTTTTAGCTTGAGGGCGTACGTGTGCGGCTTTGTTACAAGGGT... | pathogenic | 265,302 |
Regarding the variant at chromosome 17 and position 17222541, affecting gene FLCN (folliculin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1'] | TTTCACATCACGAGACCCAAAGGGAAGGGTGCACGTCAGAAGCAAATCCAGGATGCGAAGCCAGGTCTGTCTGATGCCAAAGGGCAAGCCCTGAGCCCGAAACCCCATACTGCGCATGCCCAGCACACCTGCGTTTCCAGCTCTCACAAAGGCTTCGACAGACCTGGCTCTTCGTGCTAAAAAGCTCACCAAGACACTGCCCTTGCCATCTGCACCTGCCTAGAAACATGATTAGCACTATAATAAATGGCTCCAGGGCCAGCCAACCTGCAGGGCATGGGGGTGGATTCCCAGGCTTTGTCTTTCCTGACCAGGTTTTG... | TTTCACATCACGAGACCCAAAGGGAAGGGTGCACGTCAGAAGCAAATCCAGGATGCGAAGCCAGGTCTGTCTGATGCCAAAGGGCAAGCCCTGAGCCCGAAACCCCATACTGCGCATGCCCAGCACACCTGCGTTTCCAGCTCTCACAAAGGCTTCGACAGACCTGGCTCTTCGTGCTAAAAAGCTCACCAAGACACTGCCCTTGCCATCTGCACCTGCCTAGAAACATGATTAGCACTATAATAAATGGCTCCAGGGCCAGCCAACCTGCAGGGCATGGGGGTGGATTCCCAGGCTTTGTCTTTCCTGACCAGGTTTTG... | pathogenic | 265,330 |
Clinically, how would you classify the variant at chromosome 17, position 17222571, gene FLCN (folliculin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCACGTCAGAAGCAAATCCAGGATGCGAAGCCAGGTCTGTCTGATGCCAAAGGGCAAGCCCTGAGCCCGAAACCCCATACTGCGCATGCCCAGCACACCTGCGTTTCCAGCTCTCACAAAGGCTTCGACAGACCTGGCTCTTCGTGCTAAAAAGCTCACCAAGACACTGCCCTTGCCATCTGCACCTGCCTAGAAACATGATTAGCACTATAATAAATGGCTCCAGGGCCAGCCAACCTGCAGGGCATGGGGGTGGATTCCCAGGCTTTGTCTTTCCTGACCAGGTTTTGCTCTTGCTGAGACTCCATTGGCAAAGCTTA... | GCACGTCAGAAGCAAATCCAGGATGCGAAGCCAGGTCTGTCTGATGCCAAAGGGCAAGCCCTGAGCCCGAAACCCCATACTGCGCATGCCCAGCACACCTGCGTTTCCAGCTCTCACAAAGGCTTCGACAGACCTGGCTCTTCGTGCTAAAAAGCTCACCAAGACACTGCCCTTGCCATCTGCACCTGCCTAGAAACATGATTAGCACTATAATAAATGGCTCCAGGGCCAGCCAACCTGCAGGGCATGGGGGTGGATTCCCAGGCTTTGTCTTTCCTGACCAGGTTTTGCTCTTGCTGAGACTCCATTGGCAAAGCTTA... | pathogenic | 265,340 |
Variant at chromosome 17, position 17222647, gene FLCN (folliculin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Birt-Hogg-Dube_syndrome'] | ATACTGCGCATGCCCAGCACACCTGCGTTTCCAGCTCTCACAAAGGCTTCGACAGACCTGGCTCTTCGTGCTAAAAAGCTCACCAAGACACTGCCCTTGCCATCTGCACCTGCCTAGAAACATGATTAGCACTATAATAAATGGCTCCAGGGCCAGCCAACCTGCAGGGCATGGGGGTGGATTCCCAGGCTTTGTCTTTCCTGACCAGGTTTTGCTCTTGCTGAGACTCCATTGGCAAAGCTTATTTGAGGGCACGCCTGCACCTGCCTGCAGAAACACCTCGAAACAGCTCTGGCTGTTTGGAAGGCTGGTCATTTGCA... | ATACTGCGCATGCCCAGCACACCTGCGTTTCCAGCTCTCACAAAGGCTTCGACAGACCTGGCTCTTCGTGCTAAAAAGCTCACCAAGACACTGCCCTTGCCATCTGCACCTGCCTAGAAACATGATTAGCACTATAATAAATGGCTCCAGGGCCAGCCAACCTGCAGGGCATGGGGGTGGATTCCCAGGCTTTGTCTTTCCTGACCAGGTTTTGCTCTTGCTGAGACTCCATTGGCAAAGCTTATTTGAGGGCACGCCTGCACCTGCCTGCAGAAACACCTCGAAACAGCTCTGGCTGTTTGGAAGGCTGGTCATTTGCA... | pathogenic | 265,356 |
Is the chromosome 17, position 17222664 variant in FLCN (folliculin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CACACCTGCGTTTCCAGCTCTCACAAAGGCTTCGACAGACCTGGCTCTTCGTGCTAAAAAGCTCACCAAGACACTGCCCTTGCCATCTGCACCTGCCTAGAAACATGATTAGCACTATAATAAATGGCTCCAGGGCCAGCCAACCTGCAGGGCATGGGGGTGGATTCCCAGGCTTTGTCTTTCCTGACCAGGTTTTGCTCTTGCTGAGACTCCATTGGCAAAGCTTATTTGAGGGCACGCCTGCACCTGCCTGCAGAAACACCTCGAAACAGCTCTGGCTGTTTGGAAGGCTGGTCATTTGCAAGCAGAAGCATGGGAAG... | CACACCTGCGTTTCCAGCTCTCACAAAGGCTTCGACAGACCTGGCTCTTCGTGCTAAAAAGCTCACCAAGACACTGCCCTTGCCATCTGCACCTGCCTAGAAACATGATTAGCACTATAATAAATGGCTCCAGGGCCAGCCAACCTGCAGGGCATGGGGGTGGATTCCCAGGCTTTGTCTTTCCTGACCAGGTTTTGCTCTTGCTGAGACTCCATTGGCAAAGCTTATTTGAGGGCACGCCTGCACCTGCCTGCAGAAACACCTCGAAACAGCTCTGGCTGTTTGGAAGGCTGGTCATTTGCAAGCAGAAGCATGGGAAG... | benign | 265,359 |
Clinically, how would you classify the variant at chromosome 17, position 17223929, gene FLCN (folliculin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Birt-Hogg-Dube_syndrome'] | CGCTGCTCCGATGCCAATGCAGTCACTTGTGAGACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTG... | CGCTGCTCCGATGCCAATGCAGTCACTTGTGAGACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTG... | pathogenic | 265,372 |
Variant on chromosome 17, at position 17223955, affecting FLCN (folliculin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'FLCN-related_disorder', 'Hereditary_cancer-predisposing_syndrome'] | TTGTGAGACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTA... | TTGTGAGACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTA... | pathogenic | 265,380 |
Classify the chromosome 17 variant at position 17223961 affecting gene FLCN (folliculin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGG... | GACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGG... | pathogenic | 265,382 |
Determine whether the variant at chromosome 17, position 17223972, in gene FLCN (folliculin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCA... | AACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCA... | benign | 265,384 |
Considering the genetic mutation at chromosome 17, position 17223976, impacting FLCN (folliculin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Birt-Hogg-Dube_syndrome'] | GCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAG... | GCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAG... | pathogenic | 265,387 |
Does the variant impacting FLCN (folliculin) on chromosome 17, position 17224012, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | CTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATC... | CTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATC... | pathogenic | 265,394 |
Determine if the mutation at chromosome 17, position 17224022 in gene FLCN (folliculin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTT... | TGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTT... | pathogenic | 265,397 |
Considering the genetic mutation at chromosome 17, position 17224049, impacting FLCN (folliculin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | TATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACA... | TATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACA... | pathogenic | 265,400 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 17224060, gene FLCN (folliculin): what disease(s) if pathogenic? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | CTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACT... | CTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACT... | pathogenic | 265,404 |
Determine whether the variant at chromosome 17, position 17224068, in gene FLCN (folliculin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'Colorectal_cancer', 'FLCN-related_disorder', 'Familial_spontaneous_pneumothorax', 'Hereditary_cancer-predisposing_syndrome', 'Nonpapillary_renal_cell_carcinoma', 'Potocki-Lupski_syndrome'] | ATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACTCCCAGCCC... | ATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACTCCCAGCCC... | pathogenic | 265,406 |
Does the variant impacting FLCN (folliculin) on chromosome 17, position 17224086, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1'] | TTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACTCCCAGCCCAGATCTGTGCTCACTGAC... | TTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACTCCCAGCCCAGATCTGTGCTCACTGAC... | pathogenic | 265,410 |
Clinically, how would you classify the variant at chromosome 17, position 17224119, gene FLCN (folliculin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACTCCCAGCCCAGATCTGTGCTCACTGACAAGTGCCCACAGGCCAGTGCTCCTCACAGAGGC... | TCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACTCCCAGCCCAGATCTGTGCTCACTGACAAGTGCCCACAGGCCAGTGCTCCTCACAGAGGC... | pathogenic | 265,417 |
Evaluate this variant at chromosome 17, position 17226190, gene FLCN (folliculin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACCTGGAGGGACACCGGCGACTCAGACAGCCCTTTCCTCGCTTAGTGACACCAAATCAAAGCCTCTTCTTCAGACTTTTCAGAGTCAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGG... | ACCTGGAGGGACACCGGCGACTCAGACAGCCCTTTCCTCGCTTAGTGACACCAAATCAAAGCCTCTTCTTCAGACTTTTCAGAGTCAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGG... | pathogenic | 265,434 |
Located at chromosome 17 position 17226224, the variant affecting gene FLCN (folliculin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'Colorectal_cancer', 'Familial_spontaneous_pneumothorax', 'Hereditary_cancer-predisposing_syndrome', 'Nonpapillary_renal_cell_carcinoma'] | TCCTCGCTTAGTGACACCAAATCAAAGCCTCTTCTTCAGACTTTTCAGAGTCAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCA... | TCCTCGCTTAGTGACACCAAATCAAAGCCTCTTCTTCAGACTTTTCAGAGTCAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCA... | pathogenic | 265,440 |
Is the genetic mutation found on chromosome 17 at position 17226233, within the gene FLCN (folliculin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome'] | AGTGACACCAAATCAAAGCCTCTTCTTCAGACTTTTCAGAGTCAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCACTGCACTCT... | AGTGACACCAAATCAAAGCCTCTTCTTCAGACTTTTCAGAGTCAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCACTGCACTCT... | pathogenic | 265,444 |
Mutation at chromosome 17, position 17226252, within FLCN (folliculin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCTTCTTCAGACTTTTCAGAGTCAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCACTGCACTCTCCCTGCACTGAAATCCGCA... | CTCTTCTTCAGACTTTTCAGAGTCAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCACTGCACTCTCCCTGCACTGAAATCCGCA... | pathogenic | 265,449 |
Does the variant on chromosome 17 at location 17226275 affecting gene FLCN (folliculin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'Colorectal_cancer', 'Familial_spontaneous_pneumothorax', 'Hereditary_cancer-predisposing_syndrome', 'Nonpapillary_renal_cell_carcinoma'] | CAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCACTGCACTCTCCCTGCACTGAAATCCGCACATTTTATTCTTTCTTTCTTTCT... | CAGCTGGCACAAATCAGCCAGCGTTAATAACGGGGAGAGTGGCACAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCACTGCACTCTCCCTGCACTGAAATCCGCACATTTTATTCTTTCTTTCTTTCT... | pathogenic | 265,454 |
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