question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Located at chromosome 17 position 41819371, the variant affecting gene FKBP10 (FKBP prolyl isomerase 10)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bruck_syndrome_1', 'Osteogenesis_imperfecta_type_11'] | CACGCAGTATGAAGAGTGGCAGCTCTGGCTGGGGCAGTAGCTGACATATATGGTCCCAGAGTTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAACCCAGGAGTTCCAGACCAGCCTAGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAAATAAATTATCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAACTACTCAGAAGGCTCAGGTGGGAGGATTGCTTGACCCCGGGAGGCTGCAGTGAGCCATGATCATGCCACTGAATTCCACCCTGTGTGACAGAGCAAAACCCCTCTTTTTTTCTTTTTCTTTTTTT... | CACGCAGTATGAAGAGTGGCAGCTCTGGCTGGGGCAGTAGCTGACATATATGGTCCCAGAGTTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAACCCAGGAGTTCCAGACCAGCCTAGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAAATAAATTATCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAACTACTCAGAAGGCTCAGGTGGGAGGATTGCTTGACCCCGGGAGGCTGCAGTGAGCCATGATCATGCCACTGAATTCCACCCTGTGTGACAGAGCAAAACCCCTCTTTTTTTCTTTTTCTTTTTTT... | pathogenic | 271,146 |
Gene FKBP10 (FKBP prolyl isomerase 10) variant at chromosome position 41819587 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Osteogenesis_imperfecta_type_11'] | GAGGATTGCTTGACCCCGGGAGGCTGCAGTGAGCCATGATCATGCCACTGAATTCCACCCTGTGTGACAGAGCAAAACCCCTCTTTTTTTCTTTTTCTTTTTTTTTTTGAGACAGCATCTCACTCTGTTGCACAGGCTGGAGTTTAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTCCTGGGCTCAAGCAGTCCTCCCTCTCAGCCTCCCAAATAGCTGGGACTACAGGTGCACACCACCACACGTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGCGCAGGCTGGTCTTGAACTCCTGG... | GAGGATTGCTTGACCCCGGGAGGCTGCAGTGAGCCATGATCATGCCACTGAATTCCACCCTGTGTGACAGAGCAAAACCCCTCTTTTTTTCTTTTTCTTTTTTTTTTTGAGACAGCATCTCACTCTGTTGCACAGGCTGGAGTTTAGTGGTGCGATCTCGGCTCACTGCAACCTCAGCCTCCTGGGCTCAAGCAGTCCTCCCTCTCAGCCTCCCAAATAGCTGGGACTACAGGTGCACACCACCACACGTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGCGCAGGCTGGTCTTGAACTCCTGG... | pathogenic | 271,148 |
The mutation impacting FKBP10 (FKBP prolyl isomerase 10) on chromosome 17 at position 41820469: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGGTTGGCTGATCAAGGGCATGGACCAGGGGCTGCTGGGCATGTGTCCTGGAGAGAGAAGGAAGATTATCATCCCTCCATTCCTGGCCTATGGCGAGAAAGGCTATGGTGAGGGTGGGCAAGGACACAAGGGGAAATTCCGCAGAAGAGGGAAAAACCAGGCCTCCACATACAGTTGCTCAGGTTGTATACTGCACGAGGGCATCCAACCAAGGACTCAAGGTGGGATGAAATCTACCCTTGGTGCTACTAAGAAGGGGTGCTTTGGCCGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAAGCCAAGGCGG... | TGGTTGGCTGATCAAGGGCATGGACCAGGGGCTGCTGGGCATGTGTCCTGGAGAGAGAAGGAAGATTATCATCCCTCCATTCCTGGCCTATGGCGAGAAAGGCTATGGTGAGGGTGGGCAAGGACACAAGGGGAAATTCCGCAGAAGAGGGAAAAACCAGGCCTCCACATACAGTTGCTCAGGTTGTATACTGCACGAGGGCATCCAACCAAGGACTCAAGGTGGGATGAAATCTACCCTTGGTGCTACTAAGAAGGGGTGCTTTGGCCGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAAGCCAAGGCGG... | benign | 271,151 |
Chromosome 17, position 41820960, gene FKBP10 (FKBP prolyl isomerase 10): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Bruck_syndrome_1', 'Osteogenesis_imperfecta_type_11'] | CGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGGGGTGCTTTATTCTGATTCACACGAAGGCTCAGTATGAGCCGGTGGTGGCCCTGGGGAAAACCCAGCTCAGGTCTTACTGGAGGAGCAAGAAGCAGGGCTGCTGATGGGCGGGAAAGGGCTCTGGAGAGTGGGGCTAGTGTCTTGCATGGTGCCCACTGGGCCTTCCTGAGTCAAGAAGGAGCCTCGGCTTGCTCCCCAATTTTATGGTTCAAGCCCTATCCCTTCCCCAGGGACAGTGATCCCCCCACAGGC... | CGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGGGGTGCTTTATTCTGATTCACACGAAGGCTCAGTATGAGCCGGTGGTGGCCCTGGGGAAAACCCAGCTCAGGTCTTACTGGAGGAGCAAGAAGCAGGGCTGCTGATGGGCGGGAAAGGGCTCTGGAGAGTGGGGCTAGTGTCTTGCATGGTGCCCACTGGGCCTTCCTGAGTCAAGAAGGAGCCTCGGCTTGCTCCCCAATTTTATGGTTCAAGCCCTATCCCTTCCCCAGGGACAGTGATCCCCCCACAGGC... | pathogenic | 271,157 |
Gene FKBP10 (FKBP prolyl isomerase 10) variant at chromosome 17, position 41821026—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Inborn_genetic_diseases'] | GGGGTGCTTTATTCTGATTCACACGAAGGCTCAGTATGAGCCGGTGGTGGCCCTGGGGAAAACCCAGCTCAGGTCTTACTGGAGGAGCAAGAAGCAGGGCTGCTGATGGGCGGGAAAGGGCTCTGGAGAGTGGGGCTAGTGTCTTGCATGGTGCCCACTGGGCCTTCCTGAGTCAAGAAGGAGCCTCGGCTTGCTCCCCAATTTTATGGTTCAAGCCCTATCCCTTCCCCAGGGACAGTGATCCCCCCACAGGCCTCGCTGGTCTTTCACGTCCTCCTGATTGACGTGCACAACCCGAAGGACGCTGTCCAGCTAGAGAC... | GGGGTGCTTTATTCTGATTCACACGAAGGCTCAGTATGAGCCGGTGGTGGCCCTGGGGAAAACCCAGCTCAGGTCTTACTGGAGGAGCAAGAAGCAGGGCTGCTGATGGGCGGGAAAGGGCTCTGGAGAGTGGGGCTAGTGTCTTGCATGGTGCCCACTGGGCCTTCCTGAGTCAAGAAGGAGCCTCGGCTTGCTCCCCAATTTTATGGTTCAAGCCCTATCCCTTCCCCAGGGACAGTGATCCCCCCACAGGCCTCGCTGGTCTTTCACGTCCTCCTGATTGACGTGCACAACCCGAAGGACGCTGTCCAGCTAGAGAC... | pathogenic | 271,159 |
Gene mutation in FKBP10 (FKBP prolyl isomerase 10) at chromosome 17, position 41821111—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AGCAAGAAGCAGGGCTGCTGATGGGCGGGAAAGGGCTCTGGAGAGTGGGGCTAGTGTCTTGCATGGTGCCCACTGGGCCTTCCTGAGTCAAGAAGGAGCCTCGGCTTGCTCCCCAATTTTATGGTTCAAGCCCTATCCCTTCCCCAGGGACAGTGATCCCCCCACAGGCCTCGCTGGTCTTTCACGTCCTCCTGATTGACGTGCACAACCCGAAGGACGCTGTCCAGCTAGAGACGCTGGAGCTCCCCCCCGGCTGTGTCCGCAGAGCCGGGGCCGGGGACTTCATGCGCTACCACTACAATGGCTCCTTGATGGACGGC... | AGCAAGAAGCAGGGCTGCTGATGGGCGGGAAAGGGCTCTGGAGAGTGGGGCTAGTGTCTTGCATGGTGCCCACTGGGCCTTCCTGAGTCAAGAAGGAGCCTCGGCTTGCTCCCCAATTTTATGGTTCAAGCCCTATCCCTTCCCCAGGGACAGTGATCCCCCCACAGGCCTCGCTGGTCTTTCACGTCCTCCTGATTGACGTGCACAACCCGAAGGACGCTGTCCAGCTAGAGACGCTGGAGCTCCCCCCCGGCTGTGTCCGCAGAGCCGGGGCCGGGGACTTCATGCGCTACCACTACAATGGCTCCTTGATGGACGGC... | benign | 271,161 |
Variant chromosome 17, position 42218217, gene STAT5B (signal transducer and activator of transcription 5B): benign or pathogenic? Disease(s)? | pathogenic; ['Growth_hormone_insensitivity_with_immune_dysregulation_1,_autosomal_recessive'] | TTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTA... | TTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTA... | pathogenic | 271,207 |
Chromosome 17, position 42223504, gene STAT5B (signal transducer and activator of transcription 5B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Growth_hormone_insensitivity_with_immune_dysregulation_1,_autosomal_recessive'] | CTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTAGGATGGATTCAGATAAAAAAGGAAGACAGGCTAGAATCATCCTGTCAACCTTTACTCAATAACTGTTATGTTTCAGGCATTGTGCTGGCCTCAGGGTACAGA... | CTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTAGGATGGATTCAGATAAAAAAGGAAGACAGGCTAGAATCATCCTGTCAACCTTTACTCAATAACTGTTATGTTTCAGGCATTGTGCTGGCCTCAGGGTACAGA... | pathogenic | 271,214 |
Regarding the variant found on chromosome 17 at position 42315480 in gene STAT3 (signal transducer and activator of transcription 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TACACTATGAAGTACACATTGGAATTTGAATGCAGTGGCCAGGACAGCAGCTTATAAACCACCTTATAGGTAGGTAAGCAACCCACGGGATTCCCTCGGCTGGGCTGGGGATGGGGAGGGGGCAGTGGACAGGAAGCGGGCAGGGCCTGAGGACCCTGTTCTTTAATGGGCCACAACAGGGCTCAGCTCCTCTCAGAACTTTTGCTACAATCAGAGTTAAGACCAGATACATGCTACCTAAGGCCATGAACTTGACAATATCTGCTCCAGAGAAGCCCTGAACCCTCGCCCTAGGTCCCTATGATTTAAACCCAATGGTA... | TACACTATGAAGTACACATTGGAATTTGAATGCAGTGGCCAGGACAGCAGCTTATAAACCACCTTATAGGTAGGTAAGCAACCCACGGGATTCCCTCGGCTGGGCTGGGGATGGGGAGGGGGCAGTGGACAGGAAGCGGGCAGGGCCTGAGGACCCTGTTCTTTAATGGGCCACAACAGGGCTCAGCTCCTCTCAGAACTTTTGCTACAATCAGAGTTAAGACCAGATACATGCTACCTAAGGCCATGAACTTGACAATATCTGCTCCAGAGAAGCCCTGAACCCTCGCCCTAGGTCCCTATGATTTAAACCCAATGGTA... | benign | 271,228 |
Determine if the mutation at chromosome 17, position 42323632 in gene STAT3 (signal transducer and activator of transcription 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACA... | TAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACA... | benign | 271,252 |
Variant at chromosome 17, position 42323632, gene STAT3 (signal transducer and activator of transcription 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACA... | TAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACA... | benign | 271,253 |
Gene STAT3 (signal transducer and activator of transcription 3) variant at chromosome position 42325037 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant', 'STAT3_gain_of_function'] | GGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATAT... | GGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATAT... | pathogenic | 271,262 |
Evaluate if the mutation on chromosome 17 at position 42325969 in STAT3 (signal transducer and activator of transcription 3) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAA... | GCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAA... | benign | 271,266 |
Determine whether the variant at chromosome 17, position 42325969, in gene STAT3 (signal transducer and activator of transcription 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAA... | GCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAA... | benign | 271,267 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 42329460, gene STAT3 (signal transducer and activator of transcription 3): what disease(s) if pathogenic? | benign | AAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAA... | AAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAA... | benign | 271,274 |
Does the variant on chromosome 17 at location 42329792 affecting gene STAT3 (signal transducer and activator of transcription 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAA... | AATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAA... | benign | 271,282 |
The chromosome 17, position 42337874 genetic variant in gene STAT3 (signal transducer and activator of transcription 3): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GCACTCTAACCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAATTAAAAAAAGAGAGAAGTTAGCATCATTCCATCATTCTTTGATGGTTTATCACTAGTGTAACAAAGACCAAAAGACCAGAAAGACAGAAAGTGAAAGGAGAGGGAGGGGGACCGCTGCAGGGATTTCTGAACTCCTGAGCTCTTTTCTGGCACTTCTATCCTCCCATTCCCAGAACTTAAGCTTCTTCGTTCCCTGGTCAGGAAGCATTTAAAACTGCTTTCAGTAAATTAACAACACTCAGGGTTAGTGAGGATATGAATAGACAGGCATTCTCA... | GCACTCTAACCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAATTAAAAAAAGAGAGAAGTTAGCATCATTCCATCATTCTTTGATGGTTTATCACTAGTGTAACAAAGACCAAAAGACCAGAAAGACAGAAAGTGAAAGGAGAGGGAGGGGGACCGCTGCAGGGATTTCTGAACTCCTGAGCTCTTTTCTGGCACTTCTATCCTCCCATTCCCAGAACTTAAGCTTCTTCGTTCCCTGGTCAGGAAGCATTTAAAACTGCTTTCAGTAAATTAACAACACTCAGGGTTAGTGAGGATATGAATAGACAGGCATTCTCA... | benign | 271,297 |
Does the chromosome 17 mutation at position 42337874 within gene STAT3 (signal transducer and activator of transcription 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCACTCTAACCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAATTAAAAAAAGAGAGAAGTTAGCATCATTCCATCATTCTTTGATGGTTTATCACTAGTGTAACAAAGACCAAAAGACCAGAAAGACAGAAAGTGAAAGGAGAGGGAGGGGGACCGCTGCAGGGATTTCTGAACTCCTGAGCTCTTTTCTGGCACTTCTATCCTCCCATTCCCAGAACTTAAGCTTCTTCGTTCCCTGGTCAGGAAGCATTTAAAACTGCTTTCAGTAAATTAACAACACTCAGGGTTAGTGAGGATATGAATAGACAGGCATTCTCA... | GCACTCTAACCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAATTAAAAAAAGAGAGAAGTTAGCATCATTCCATCATTCTTTGATGGTTTATCACTAGTGTAACAAAGACCAAAAGACCAGAAAGACAGAAAGTGAAAGGAGAGGGAGGGGGACCGCTGCAGGGATTTCTGAACTCCTGAGCTCTTTTCTGGCACTTCTATCCTCCCATTCCCAGAACTTAAGCTTCTTCGTTCCCTGGTCAGGAAGCATTTAAAACTGCTTTCAGTAAATTAACAACACTCAGGGTTAGTGAGGATATGAATAGACAGGCATTCTCA... | benign | 271,298 |
Variant at chromosome 17, position 42338841, gene STAT3 (signal transducer and activator of transcription 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CCTTAAAAAGGGCATGTGTCATTTTAGATTACTAAAATAACTAAAATTAAAAGGTTTGTCTATCTGTTAAATACAGTTAAACCAAAAGCCTTAATTGAATTATTAAGTAAAATATACTTAAAATATAATAATATAAATACATTTTTTAAAACAAAGTTTCTCCAAATAAAGTAAAAACTTTATTTTATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGTTGGTGTGCGGTAGTAAGATCTCCGCTCACTGCAACTTCCATATCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCGCCCAGAGTAGCT... | CCTTAAAAAGGGCATGTGTCATTTTAGATTACTAAAATAACTAAAATTAAAAGGTTTGTCTATCTGTTAAATACAGTTAAACCAAAAGCCTTAATTGAATTATTAAGTAAAATATACTTAAAATATAATAATATAAATACATTTTTTAAAACAAAGTTTCTCCAAATAAAGTAAAAACTTTATTTTATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGTTGGTGTGCGGTAGTAAGATCTCCGCTCACTGCAACTTCCATATCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCGCCCAGAGTAGCT... | benign | 271,305 |
Is the genetic variant on chromosome 17, position 42339255, gene STAT3 (signal transducer and activator of transcription 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CCTGACCTCAAGTGATCCGCCCATCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACAGCGCCTGGCCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGT... | CCTGACCTCAAGTGATCCGCCCATCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACAGCGCCTGGCCGAAATAAAGTAAAAACTTTAATTCTTGGGCTAAATTTGAATATGGAAAAGTCCCCACGTTGGAGATATAGTACCAATTCTGTGGGCCTGCAGTTAAGATCAGAATTCAATCTAGCTTTCGAGAAAGAAAGGAAAAGCTTCTTTCATCCTTTACCAGTTTTCTAGCCGATCTAGGCAGATGTTGGGCGGGCCTCCAATGCAGGCAATCTGTTGCCGCCTCTTCCAGTCAGCCAGCTCCTCGTCCGT... | benign | 271,306 |
Variant at chromosome position 42405338, chromosome 17, gene CAVIN1 (caveolae associated protein 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Congenital_generalized_lipodystrophy_type_4'] | TTCTCTCCCCACCTCCCCTCCAGCTCTCAACTTGGTGGCAGGGCCGGCACCCTGCTCTCCCTCCTAACTCCCAGCCTGCTGCTGCCCCCTTCTGGGACCCTAATTTTCTGGACTTTGAGAAATGGGCTGCCCCTGGGGGTGCCTCCAAGAGCCCATTTGAGGGATCGGGTGGGGCTGACCTCTCTGTCTTCTTTGGATCATCGCCTTCTCACACTGTCCTCCCTCTTGATTCTGAAAAATGGTCCTGCTGCCCATGGAGAACCACAGTAAGATAGATTTCTCATGCAGCTAGTGAGGGGACTTCTCTCTTCACCCATTTC... | TTCTCTCCCCACCTCCCCTCCAGCTCTCAACTTGGTGGCAGGGCCGGCACCCTGCTCTCCCTCCTAACTCCCAGCCTGCTGCTGCCCCCTTCTGGGACCCTAATTTTCTGGACTTTGAGAAATGGGCTGCCCCTGGGGGTGCCTCCAAGAGCCCATTTGAGGGATCGGGTGGGGCTGACCTCTCTGTCTTCTTTGGATCATCGCCTTCTCACACTGTCCTCCCTCTTGATTCTGAAAAATGGTCCTGCTGCCCATGGAGAACCACAGTAAGATAGATTTCTCATGCAGCTAGTGAGGGGACTTCTCTCTTCACCCATTTC... | pathogenic | 271,340 |
Clinical classification of chromosome 17, position 42536320, gene NAGLU: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | GGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTAC... | GGTTAACTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGACTGAGACAGGAGAATGGCTTGAACCTGGGTGGCTGAGGTTCCCGTGAGCTGAGATTAAAAAAAAAAATCATACTTCCCTAGTATCTAAAGTTGATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTAC... | pathogenic | 271,348 |
The genetic variant at chromosome 17, position 42536462, affecting gene NAGLU: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | GATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCC... | GATATCTGATTCCAGGCCTCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCC... | pathogenic | 271,350 |
The mutation impacting NAGLU on chromosome 17 at position 42536480: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | TCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGT... | TCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGT... | pathogenic | 271,351 |
Clinical significance of chromosome 17, position 42536480, gene NAGLU: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B', 'NAGLU-related_disorder'] | TCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGT... | TCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGT... | pathogenic | 271,352 |
The chromosome 17, position 42536480 genetic variant in gene NAGLU: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | TCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGT... | TCTTTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGT... | pathogenic | 271,353 |
Regarding the variant found on chromosome 17 at position 42536483 in gene NAGLU: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | TTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGC... | TTCAACTTTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGC... | pathogenic | 271,354 |
Chromosome 17, position 42536490, gene NAGLU: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | TTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGT... | TTTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGT... | pathogenic | 271,355 |
Evaluate this variant at chromosome 17, position 42536491, gene NAGLU: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | TTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTA... | TTTTTGTTTGTTTGTTTGTTTTTTTGATATGGAGTCTCGCTCTGTCATCCAGGCTGGAATGCAAATGGCACGATCTTGGCTCACTGCAACTTCCACCTCCAGCGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCAAGCCTGGCTAACTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCTCCGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAGTA... | pathogenic | 271,356 |
Chromosome 17, position 42537420, gene NAGLU (N-acetyl-alpha-glucosaminidase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | AGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCC... | AGCGGGGTCTTGTGACCTTTTATCTTGTGCTGACCTCCTGTCTCATCCTGTGACGAAGGCCTAACCTCCTGGGAATTCAGCCCAGCAGGTCTCTGCCTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCC... | pathogenic | 271,369 |
Is the genetic mutation found on chromosome 17 at position 42537516, within the gene NAGLU (N-acetyl-alpha-glucosaminidase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Abnormal_facial_shape', 'Abnormality_of_metabolism/homeostasis', 'Charcot-Marie-Tooth_disease_axonal_type_2V', 'Coarse_facial_features', 'Hepatosplenomegaly', 'Hypertrichosis', 'Intellectual_disability,_severe', 'Mucopolysaccharidosis,_MPS-III-B', 'Mucopolysacchariduria', 'Thick_eyebrow'] | CTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCC... | CTCATTTTACCCAGCCCCTGTTCAAGATGGAGTCGCTCTGGTTGGAAACTTCTGACAAAATGACAGCTCCTGTTATGTTGCTGCTGCTGCCGCCAATGGACAGCCTTTAACGTGCCCGCCAGCCCTGCTCCACCGCCGGCCTGGGCTCACATGGCCCCATCCCTCCTCGAACCTCCTAGCCTGTTAGTTACTCAAATCTGCAAGCTCTCTGCCTTCTCAGGGCCTTCAATAAATGCATTTCTTCTGTCTGGAAGGCTCTTCCTTTCCCTCTTCTAGCCAATTCCTATTCATCCCTGAGTTTCAGATTAAAAGTCACTTCC... | pathogenic | 271,375 |
Considering the genetic mutation at chromosome 17, position 42538449, impacting NAGLU (N-acetyl-alpha-glucosaminidase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | CCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACC... | CCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCCCCGAAGCTTCCCCGCGTCCGCCCGAGGCGCTTACCCCCTCCCGGAGCCGCTGCCACC... | pathogenic | 271,381 |
The chromosome 17, position 42540993 genetic variant in gene NAGLU (N-acetyl-alpha-glucosaminidase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | AACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCT... | AACCCTGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCT... | pathogenic | 271,393 |
Benign or pathogenic: chromosome 17, position 42541016, gene NAGLU (N-acetyl-alpha-glucosaminidase) variant? Disease(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-B'] | AAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCG... | AAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCG... | pathogenic | 271,395 |
Chromosome 17, position 42541048, gene NAGLU (N-acetyl-alpha-glucosaminidase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | TAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCA... | TAATCCCATCTACTTAGGAGGCTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCA... | pathogenic | 271,396 |
The genetic variant at chromosome 17, position 42541069, affecting gene NAGLU (N-acetyl-alpha-glucosaminidase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Inborn_genetic_diseases', 'Mucopolysaccharidosis,_MPS-III-B'] | CTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGG... | CTGAGACAGGAGAATTGCTTAAACCTGGGAGGCAGACGTTGCAGTGAGTCAAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGCGAAACTCTGTCTCAAACAAACAAACAAGCTCTGGACGTAGGCCTGGGTTTGATTTCTGACTCTGCTACTAATTAGCTGTGTGACTTCGGGCAGATGACATGACTGCTCTGTGCCTCAGTTTCCTTACTTGTAAAATGGGATCTCTACCCACTTCGCTGTAGGGTTTGTAATTATCTCTCGATCTATCTGTGACTTTGCACAGAGTGCTAGCAAATGGCAGCCCTTGGGAGTGG... | pathogenic | 271,398 |
Variant in gene NAGLU (N-acetyl-alpha-glucosaminidase), located at chromosome 17 position 42543067: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | CTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAA... | CTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAA... | pathogenic | 271,412 |
Clinically, how would you classify the variant at chromosome 17, position 42543178, gene NAGLU (N-acetyl-alpha-glucosaminidase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | TGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACT... | TGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACT... | pathogenic | 271,415 |
Assess the variant on chromosome 17, position 42543205, impacting NAGLU (N-acetyl-alpha-glucosaminidase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | CTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGT... | CTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGT... | pathogenic | 271,417 |
Variant in gene NAGLU (N-acetyl-alpha-glucosaminidase), located at chromosome 17 position 42543241: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | GGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCAT... | GGCCATGACTGCAGGTACAGTGCCTGGGTGGGGTGGGAGAGCCCCCCAGACCCTCAAAAAGAAGGGAGTAGCAGATGTCAGTAGGGGTAGGCAGAGGGACTGGAATAATGCCTCGCCATAACACACAGTACTTCATAGTTTACCAAGCACGTGTACACATGCGTTGTCTCAGTGAATCCCACTGTGGTTGAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCAT... | pathogenic | 271,420 |
Mutation at chromosome 17, position 42543430, within NAGLU (N-acetyl-alpha-glucosaminidase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | GAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGG... | GAGAGGTGAGCTCTGGAAGCCAACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGG... | pathogenic | 271,426 |
The genetic variant at chromosome 17, position 42543452, affecting gene NAGLU (N-acetyl-alpha-glucosaminidase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | ACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCC... | ACAACCTGGGTCACACCTCGCGCTCCTATTTCCTGGCCGTGTGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCC... | pathogenic | 271,429 |
Mutation found at chromosome 17 position 42543493, gene NAGLU (N-acetyl-alpha-glucosaminidase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | TGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCA... | TGACTTATGACTCATGACCTCCTTCCCAGTGTCTCGTTTGCTTTTCCTGTAAACTGGGACTACCTCATAGGTAGAATAACGCCTGGCCCAGAGCAAAGGCCACTAAGAGCTAGCTATGAACAAGGATTTTGTTTCATCTCTGCGTGGTTGCTGAAGTAGGCACTGCAGGCAGGAGGTGAGTGGATGTGCCTAAAGGCACTAAGTGCGCATCCTGCTACAAAACTGTGAAGCCAGGGCTCCTTCCTGCCACTTAAAGGAGGAGTGGAGCAGAGGGCGCCCAAGTCAGGAATGACTTAGTGGAGAGGCGTCTGTGTTGGCCA... | pathogenic | 271,431 |
Is the variant located on chromosome 17 at position 42543921, gene NAGLU (N-acetyl-alpha-glucosaminidase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | AGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTA... | AGGCCCTACCCAAGACCTGAAGGAGAAGCTACATTTTTTTTTTTTTTGAGACAGATTTCACTCTGTTGCTGAGGCTGGAGCACAGTGGCACAATCTCATCTCACTGCAACCTTCGTCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACCCGCCACCACGCCCGGCAATTTTTGTTTGTTTTGAGATAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTA... | pathogenic | 271,453 |
The chromosome 17, position 42544174 genetic variant in gene NAGLU (N-acetyl-alpha-glucosaminidase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2V', 'Mucopolysaccharidosis,_MPS-III-B'] | GATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCA... | GATCTCAGTTCACTGCAACCTCTGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCCCCAACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTAGGTCAAGCTGGTTTCAAACTCCTGACCTCAAATGATTCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTGCCTGGCCAATTTTTGTATTTTTAGTAGAAACAGGTTTCACCATGGTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGAACTGCCCA... | pathogenic | 271,464 |
A genetic variant at chromosome 17, position 42565719, affecting gene COASY (Coenzyme A synthase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Neurodegeneration_with_brain_iron_accumulation', 'Pontocerebellar_hypoplasia,_type_12'] | GGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTT... | GGGTCTTGGAATTTTCCATCTGCCTCTGATGCCCTCTGGCACTGCTCGTTCTCTGGAGTGGTTTCCTGGTGGCTTATTCTCTGGACACATGCCAGCCCTTGGAGTGACTATTGTGCTTGCCTGTTTCTTCACCTTCATGCTCCCCTCACCATCACCATAGGCCTTACCAGTTGAACCCTTTCTGCCACCCCCTCTGGGGATACTGTACTTAGGGACACTTTTTCCCAAACTGGCCCATACTCTCCTCCCCAATAAAAAGATCTCACTGTTCTTCTGGGCTCCTTCCCCAGGCAAGTTGCTCCCTGAGCTGCTCCAACCTT... | pathogenic | 271,499 |
Evaluate if the mutation on chromosome 17 at position 42683801 in CNTNAP1 is benign or pathogenic. Disease name(s) if pathogenic? | benign | TCCTCCCTCTCTGTAACCCTTCTCCCCCTCCCTGCCCCCACTCCCACCTGCTCTGTGGCCTCCGTCCCCATCTCTGGCTACACAGGTTTCTGAGGTATAGCCACAGGGGGTAGAAGTTAAACTACTAGCGGGACAGGAAGGAAGAGGCGGGGAGAGGGGCCGAGAGGGAGGTGGGGATTAGGGTCTACGGGGTCACTTTCCCATTCCACCTCCTCCAAAAGACTTCACTCTCTTGTGCAGGATCTGGATTTTACGAAAAAAAAAAAAAGAAGAAGAAAGGAAGGAAAGAGGAAAGAAAGAAAGAAAGAAAGAAAAAAAGG... | TCCTCCCTCTCTGTAACCCTTCTCCCCCTCCCTGCCCCCACTCCCACCTGCTCTGTGGCCTCCGTCCCCATCTCTGGCTACACAGGTTTCTGAGGTATAGCCACAGGGGGTAGAAGTTAAACTACTAGCGGGACAGGAAGGAAGAGGCGGGGAGAGGGGCCGAGAGGGAGGTGGGGATTAGGGTCTACGGGGTCACTTTCCCATTCCACCTCCTCCAAAAGACTTCACTCTCTTGTGCAGGATCTGGATTTTACGAAAAAAAAAAAAAGAAGAAGAAAGGAAGGAAAGAGGAAAGAAAGAAAGAAAGAAAGAAAAAAAGG... | benign | 271,554 |
Classify the chromosome 17 variant at position 42900952 affecting gene G6PC1 (glucose-6-phosphatase catalytic subunit 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['G6PC1-related_disorder', 'Glycogen_storage_disease,_type_I', 'Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA'] | CAAGTTTTTAAACATTTTATTCCCCCTGGCTCTTATCCTCAAAAAATGCATGAATTTGGAGGCAGTGGCTCATGCCTGTAATCCCAATGCTTTGCTAGGTTGAGGCGGGAGGATCACTTGAAGCCAGGAATTTGAGACCAGCCTGGGCCGCATAGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTC... | CAAGTTTTTAAACATTTTATTCCCCCTGGCTCTTATCCTCAAAAAATGCATGAATTTGGAGGCAGTGGCTCATGCCTGTAATCCCAATGCTTTGCTAGGTTGAGGCGGGAGGATCACTTGAAGCCAGGAATTTGAGACCAGCCTGGGCCGCATAGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTC... | pathogenic | 271,680 |
Evaluate this variant at chromosome 17, position 42901010, gene G6PC1 (glucose-6-phosphatase catalytic subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA'] | GAGGCAGTGGCTCATGCCTGTAATCCCAATGCTTTGCTAGGTTGAGGCGGGAGGATCACTTGAAGCCAGGAATTTGAGACCAGCCTGGGCCGCATAGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTCTACTATTTGTAGGCTGATATATAGTATACACACACACACACACACACATATACACACA... | GAGGCAGTGGCTCATGCCTGTAATCCCAATGCTTTGCTAGGTTGAGGCGGGAGGATCACTTGAAGCCAGGAATTTGAGACCAGCCTGGGCCGCATAGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTCTACTATTTGTAGGCTGATATATAGTATACACACACACACACACACACATATACACACA... | pathogenic | 271,685 |
Clinical significance of chromosome 17, position 42901025, gene G6PC1 (glucose-6-phosphatase catalytic subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA'] | GCCTGTAATCCCAATGCTTTGCTAGGTTGAGGCGGGAGGATCACTTGAAGCCAGGAATTTGAGACCAGCCTGGGCCGCATAGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTCTACTATTTGTAGGCTGATATATAGTATACACACACACACACACACACATATACACACACACAGTGTATCTTGA... | GCCTGTAATCCCAATGCTTTGCTAGGTTGAGGCGGGAGGATCACTTGAAGCCAGGAATTTGAGACCAGCCTGGGCCGCATAGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTCTACTATTTGTAGGCTGATATATAGTATACACACACACACACACACACATATACACACACACAGTGTATCTTGA... | pathogenic | 271,686 |
Is the genetic variant on chromosome 17, position 42903959, gene G6PC1 (glucose-6-phosphatase catalytic subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA', 'Inborn_genetic_diseases'] | GCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACATTCCCATTCTGG... | GCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACATTCCCATTCTGG... | pathogenic | 271,699 |
Variant in gene G6PC1 (glucose-6-phosphatase catalytic subunit 1), located at chromosome 17 position 42907558: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_I', 'Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA'] | AAAAAAAAAAAAGAAGAAGAAGAAGAAAAGGAAAGGAGAAGGAAAGAAGGACCAAACATCTTTTGTAGAAATATGTTTGCTTTCATCATAACAGCTTGTTATCAAGGATGAATTTCTCCCTGAAATTAATGGAGGCACAGACTGGAAAGTTTAAAGTGGCTTTAAGAGGTTATTTTATTTAGTCCTCTGTCTTAATAGAAGCAAATTATTATCTCTGCTCCTTAGGTAGAGTAGCTAAGGCTCAGAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAACGCAGGTGGATCACCTGAG... | AAAAAAAAAAAAGAAGAAGAAGAAGAAAAGGAAAGGAGAAGGAAAGAAGGACCAAACATCTTTTGTAGAAATATGTTTGCTTTCATCATAACAGCTTGTTATCAAGGATGAATTTCTCCCTGAAATTAATGGAGGCACAGACTGGAAAGTTTAAAGTGGCTTTAAGAGGTTATTTTATTTAGTCCTCTGTCTTAATAGAAGCAAATTATTATCTCTGCTCCTTAGGTAGAGTAGCTAAGGCTCAGAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAACGCAGGTGGATCACCTGAG... | pathogenic | 271,710 |
Evaluate if the mutation on chromosome 17 at position 42909365 in G6PC1 (glucose-6-phosphatase catalytic subunit 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA'] | ATTTGTTAAATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAAC... | ATTTGTTAAATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAAC... | pathogenic | 271,721 |
Gene mutation in G6PC1 (glucose-6-phosphatase catalytic subunit 1) at chromosome 17, position 42910943—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA'] | GATGGGGTTTCACCTGTTGATCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATAAGCCACCGTGCCTGGTCAATTTTGATCTTTTTTAAAGAGACAGGGGTCTTGCTATGTTGCCCAGACTAGTCTTGAACTCCTGGCCTCAAGTGATCCTCTCACCTCGGCCTCCCAAAGTATTGGGATTACAGGTCTGAGCCGCTGCACCCAGCCCCCAACAGGCATCTTTGGACTTTTGAGTACTGGCTTTAATTTACAAAAATTCCACTGAGAGCACCTAAGTT... | GATGGGGTTTCACCTGTTGATCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATAAGCCACCGTGCCTGGTCAATTTTGATCTTTTTTAAAGAGACAGGGGTCTTGCTATGTTGCCCAGACTAGTCTTGAACTCCTGGCCTCAAGTGATCCTCTCACCTCGGCCTCCCAAAGTATTGGGATTACAGGTCTGAGCCGCTGCACCCAGCCCCCAACAGGCATCTTTGGACTTTTGAGTACTGGCTTTAATTTACAAAAATTCCACTGAGAGCACCTAAGTT... | pathogenic | 271,731 |
Evaluate this variant at chromosome 17, position 42911108, gene G6PC1 (glucose-6-phosphatase catalytic subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA'] | TCTTGAACTCCTGGCCTCAAGTGATCCTCTCACCTCGGCCTCCCAAAGTATTGGGATTACAGGTCTGAGCCGCTGCACCCAGCCCCCAACAGGCATCTTTGGACTTTTGAGTACTGGCTTTAATTTACAAAAATTCCACTGAGAGCACCTAAGTTTGCCAGGCTCCAACATTTCTGCAGGGGCTGTTTTCTTTGCTGAAGGATCTGCACCTGTGTTCTGTTATGGTTGCCTCTTCTGTTGCAGGTGCTTGAATGTCATTTTGTGGTTGGGATTCTGGGCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTG... | TCTTGAACTCCTGGCCTCAAGTGATCCTCTCACCTCGGCCTCCCAAAGTATTGGGATTACAGGTCTGAGCCGCTGCACCCAGCCCCCAACAGGCATCTTTGGACTTTTGAGTACTGGCTTTAATTTACAAAAATTCCACTGAGAGCACCTAAGTTTGCCAGGCTCCAACATTTCTGCAGGGGCTGTTTTCTTTGCTGAAGGATCTGCACCTGTGTTCTGTTATGGTTGCCTCTTCTGTTGCAGGTGCTTGAATGTCATTTTGTGGTTGGGATTCTGGGCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTG... | pathogenic | 271,737 |
Variant on chromosome 17, at position 42911149, affecting G6PC1 (glucose-6-phosphatase catalytic subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA'] | CCCAAAGTATTGGGATTACAGGTCTGAGCCGCTGCACCCAGCCCCCAACAGGCATCTTTGGACTTTTGAGTACTGGCTTTAATTTACAAAAATTCCACTGAGAGCACCTAAGTTTGCCAGGCTCCAACATTTCTGCAGGGGCTGTTTTCTTTGCTGAAGGATCTGCACCTGTGTTCTGTTATGGTTGCCTCTTCTGTTGCAGGTGCTTGAATGTCATTTTGTGGTTGGGATTCTGGGCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTGCTCATTTTCCTCATCAAGTTGTTGCTGGAGTCCTGTCAGGT... | CCCAAAGTATTGGGATTACAGGTCTGAGCCGCTGCACCCAGCCCCCAACAGGCATCTTTGGACTTTTGAGTACTGGCTTTAATTTACAAAAATTCCACTGAGAGCACCTAAGTTTGCCAGGCTCCAACATTTCTGCAGGGGCTGTTTTCTTTGCTGAAGGATCTGCACCTGTGTTCTGTTATGGTTGCCTCTTCTGTTGCAGGTGCTTGAATGTCATTTTGTGGTTGGGATTCTGGGCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTGCTCATTTTCCTCATCAAGTTGTTGCTGGAGTCCTGTCAGGT... | pathogenic | 271,742 |
Does the genetic variant at chromosome 17, position 42911206, impacting gene G6PC1 (glucose-6-phosphatase catalytic subunit 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA'] | TTGGACTTTTGAGTACTGGCTTTAATTTACAAAAATTCCACTGAGAGCACCTAAGTTTGCCAGGCTCCAACATTTCTGCAGGGGCTGTTTTCTTTGCTGAAGGATCTGCACCTGTGTTCTGTTATGGTTGCCTCTTCTGTTGCAGGTGCTTGAATGTCATTTTGTGGTTGGGATTCTGGGCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTGCTCATTTTCCTCATCAAGTTGTTGCTGGAGTCCTGTCAGGTATGGGCTGATCTGACTCCCTTCCTTCTCCCCCAAACCCCATTCCGTTTCTCTCCCTA... | TTGGACTTTTGAGTACTGGCTTTAATTTACAAAAATTCCACTGAGAGCACCTAAGTTTGCCAGGCTCCAACATTTCTGCAGGGGCTGTTTTCTTTGCTGAAGGATCTGCACCTGTGTTCTGTTATGGTTGCCTCTTCTGTTGCAGGTGCTTGAATGTCATTTTGTGGTTGGGATTCTGGGCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTGCTCATTTTCCTCATCAAGTTGTTGCTGGAGTCCTGTCAGGTATGGGCTGATCTGACTCCCTTCCTTCTCCCCCAAACCCCATTCCGTTTCTCTCCCTA... | pathogenic | 271,747 |
A genetic variant at chromosome 17, position 42911329, affecting gene G6PC1 (glucose-6-phosphatase catalytic subunit 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Glycogen_storage_disease_due_to_glucose-6-phosphatase_deficiency_type_IA'] | ATGGTTGCCTCTTCTGTTGCAGGTGCTTGAATGTCATTTTGTGGTTGGGATTCTGGGCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTGCTCATTTTCCTCATCAAGTTGTTGCTGGAGTCCTGTCAGGTATGGGCTGATCTGACTCCCTTCCTTCTCCCCCAAACCCCATTCCGTTTCTCTCCCTAATCAGGACAAAATCCCAGCATTCCAGCCACATCCTGTGTGTAATCAGTACTGTTAGCATTTCTGTGGGTTGAAAGTCAAGAATGAGCAACTTGAAATGATTAATTTCTATAAGAGTGCCCAGA... | ATGGTTGCCTCTTCTGTTGCAGGTGCTTGAATGTCATTTTGTGGTTGGGATTCTGGGCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTGCTCATTTTCCTCATCAAGTTGTTGCTGGAGTCCTGTCAGGTATGGGCTGATCTGACTCCCTTCCTTCTCCCCCAAACCCCATTCCGTTTCTCTCCCTAATCAGGACAAAATCCCAGCATTCCAGCCACATCCTGTGTGTAATCAGTACTGTTAGCATTTCTGTGGGTTGAAAGTCAAGAATGAGCAACTTGAAATGATTAATTTCTATAAGAGTGCCCAGA... | pathogenic | 271,756 |
Regarding the variant found on chromosome 17 at position 43039999 in gene BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CGTATAGCCTAACAGCTGGGAAGAGCCTCCTGAGTTTCTCCTGCTAATATACACTGTCATTTGGTTTTATATGACTTTCAAGAGAAGATGGCAAACATCTGCTTACCTGTGTGTCTGTGTTACCTTGGATTCACCCTCTCTTCCCTCATCTAGGACGCGTGATAATGCTTTAAACACACACACACACACACACACACACACACAAACACACACACACACCCTCTGGAATTAACCAGTGCCAACTGCTGCAGCATTGCAGAGAAAAACACTCTGTAGTCACAAACTTATCTTCCAGTGCATATCTCCATTTAACTGGAGTC... | CGTATAGCCTAACAGCTGGGAAGAGCCTCCTGAGTTTCTCCTGCTAATATACACTGTCATTTGGTTTTATATGACTTTCAAGAGAAGATGGCAAACATCTGCTTACCTGTGTGTCTGTGTTACCTTGGATTCACCCTCTCTTCCCTCATCTAGGACGCGTGATAATGCTTTAAACACACACACACACACACACACACACACACAAACACACACACACACCCTCTGGAATTAACCAGTGCCAACTGCTGCAGCATTGCAGAGAAAAACACTCTGTAGTCACAAACTTATCTTCCAGTGCATATCTCCATTTAACTGGAGTC... | benign | 271,782 |
Assess the variant on chromosome 17, position 43044804, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CTTAGAGACAATTACAGAAAACTTTAATGTATTTTAGTCATCTTTGCTTTTACTCACTATTCCTGAAAAGGCAGGCTGTACTAGATGGATACTGCTTTTCCTATTAACCCATTAGTGATGGGGTCAGAAGGCTGAGGCCTGGCTTACCCTCAAGGCCCAGTAGCACTTCTGCTTGCTTCCCGCCTGCCTTTACTACTAACACCGAGACTCATCAACTCACTGGCAGGTAGACAGGGAGCTGGCATGGGCCCTTGGGAAGTCAAGCTGTAGGTGAGGATGAACTGGAAGGCTTTGACAACTAAGATACACAGTCATAAGCT... | CTTAGAGACAATTACAGAAAACTTTAATGTATTTTAGTCATCTTTGCTTTTACTCACTATTCCTGAAAAGGCAGGCTGTACTAGATGGATACTGCTTTTCCTATTAACCCATTAGTGATGGGGTCAGAAGGCTGAGGCCTGGCTTACCCTCAAGGCCCAGTAGCACTTCTGCTTGCTTCCCGCCTGCCTTTACTACTAACACCGAGACTCATCAACTCACTGGCAGGTAGACAGGGAGCTGGCATGGGCCCTTGGGAAGTCAAGCTGTAGGTGAGGATGAACTGGAAGGCTTTGACAACTAAGATACACAGTCATAAGCT... | benign | 271,798 |
Assess the variant on chromosome 17, position 43045700, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTCCTCCCTTGATTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAG... | TGTCCTCCCTTGATTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAG... | pathogenic | 271,814 |
Regarding the variant found on chromosome 17 at position 43045705 in gene BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCCCTTGATTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAAC... | TCCCTTGATTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAAC... | pathogenic | 271,819 |
Evaluate if the mutation on chromosome 17 at position 43045709 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTGATTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCC... | TTGATTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCC... | pathogenic | 271,821 |
Located at chromosome 17 position 43045709, the variant affecting gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGATTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCC... | TTGATTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCC... | pathogenic | 271,822 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43045711—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GATTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAG... | GATTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAG... | pathogenic | 271,824 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43045713—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTG... | TTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTG... | pathogenic | 271,828 |
Classify the chromosome 17 variant at position 43045716 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGA... | CTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGA... | pathogenic | 271,831 |
Does the genetic variant at chromosome 17, position 43045718, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAA... | GTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAA... | pathogenic | 271,833 |
Is the chromosome 17, position 43045721 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAG... | TTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAG... | pathogenic | 271,836 |
Evaluate the clinical significance of the mutation at chromosome 17, position 43045733 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCC... | ATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCC... | pathogenic | 271,844 |
Does the genetic variant at chromosome 17, position 43045735, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTA... | TCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTA... | pathogenic | 271,849 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43045736, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAG... | CCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAG... | pathogenic | 271,850 |
Clinically, how would you classify the variant at chromosome 17, position 43045736, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAG... | CCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAG... | pathogenic | 271,851 |
A genetic variant on chromosome 17, position 43045736, affects the gene BRCA1 (BRCA1 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAG... | CCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAG... | pathogenic | 271,852 |
Variant at chromosome position 43045738, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAA... | AACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAA... | pathogenic | 271,854 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43045744—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAA... | AATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAA... | pathogenic | 271,859 |
Clinically, how would you classify the variant at chromosome 17, position 43045748, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGAC... | TAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGAC... | pathogenic | 271,861 |
Does the chromosome 17 mutation at position 43045751 within gene BRCA1 (BRCA1 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | GTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCA... | GTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCA... | pathogenic | 271,863 |
Variant at chromosome position 43045752, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAG... | TACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAG... | pathogenic | 271,864 |
Assess the variant on chromosome 17, position 43045757, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCT... | CTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCT... | pathogenic | 271,868 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43045758 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTC... | TGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTC... | pathogenic | 271,869 |
Is the genetic mutation found on chromosome 17 at position 43045759, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | GCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCT... | GCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCT... | pathogenic | 271,873 |
For chromosome 17, position 43045759, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCT... | GCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCT... | pathogenic | 271,874 |
Evaluate this variant at chromosome 17, position 43045759, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCT... | GCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCT... | pathogenic | 271,875 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43045763, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAA... | AGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAA... | pathogenic | 271,881 |
Is the chromosome 17, position 43045763 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAA... | AGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAA... | pathogenic | 271,882 |
Considering the variant on chromosome 17, location 43045764, involving gene BRCA1 (BRCA1 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAG... | GGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAG... | pathogenic | 271,884 |
Mutation at chromosome 17, position 43045766, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGG... | GACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGG... | pathogenic | 271,885 |
Variant on chromosome 17, at position 43045766, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGG... | GACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGG... | pathogenic | 271,886 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43045766, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGG... | GACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGG... | pathogenic | 271,887 |
Is the genetic variant on chromosome 17, position 43045770, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACA... | TTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACA... | pathogenic | 271,890 |
Benign or pathogenic: chromosome 17, position 43045774, gene BRCA1 (BRCA1 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCC... | AGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCC... | pathogenic | 271,892 |
The mutation impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17 at position 43045776: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCT... | CTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCT... | pathogenic | 271,894 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43045777 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTG... | TATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTG... | pathogenic | 271,896 |
Clinically, how would you classify the variant at chromosome 17, position 43045779, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCG... | TAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCG... | pathogenic | 271,897 |
A mutation at chromosome position 43045784 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACAC... | AAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACAC... | pathogenic | 271,899 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43045784, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACAC... | AAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACAC... | pathogenic | 271,900 |
Variant chromosome 17, position 43045785, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACC... | AGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACC... | pathogenic | 271,901 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43045786: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCT... | GGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCT... | pathogenic | 271,902 |
For chromosome 17, position 43045788, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTT... | CTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTT... | pathogenic | 271,903 |
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