question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Variant chromosome 17, position 31200484, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | GTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTAC... | GTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTAC... | pathogenic | 267,020 |
Is the genetic variant on chromosome 17, position 31200485, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACA... | TTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACA... | pathogenic | 267,021 |
Mutation found at chromosome 17 position 31200512, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | CCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATT... | CCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATT... | pathogenic | 267,030 |
Variant in NF1 (neurofibromin 1), chromosome 17, position 31200528—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Neurofibromatosis,_type_1'] | CGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAG... | CGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAG... | pathogenic | 267,033 |
Does the genetic variant at chromosome 17, position 31200530, impacting gene NF1 (neurofibromin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTA... | GTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTA... | pathogenic | 267,034 |
Mutation at chromosome 17, position 31200531, within NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAG... | TAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAG... | pathogenic | 267,035 |
Evaluate if the mutation on chromosome 17 at position 31200549 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome', 'Tibial_pseudarthrosis'] | AAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAGAGATGGGGGTTTTACCAT... | AAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAGAGATGGGGGTTTTACCAT... | pathogenic | 267,043 |
Clinical significance of chromosome 17, position 31200552, gene NF1 (neurofibromin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | TTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAGAGATGGGGGTTTTACCATGTT... | TTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAGAGATGGGGGTTTTACCATGTT... | pathogenic | 267,044 |
Variant on chromosome 17, at position 31200552, affecting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAGAGATGGGGGTTTTACCATGTT... | TTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAGAGATGGGGGTTTTACCATGTT... | pathogenic | 267,045 |
Is the variant located on chromosome 17 at position 31200556, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAGAGATGGGGGTTTTACCATGTTGATC... | TCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAGAGATGGGGGTTTTACCATGTTGATC... | pathogenic | 267,046 |
Variant at chromosome 17, position 31200569, gene NF1 (neurofibromin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Neurofibromatosis,_type_1'] | GGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAGAGATGGGGGTTTTACCATGTTGATCAGGCTGGTCTTAA... | GGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAGAGATGGGGGTTTTACCATGTTGATCAGGCTGGTCTTAA... | pathogenic | 267,049 |
A genetic variant at chromosome 17, position 31201047, affecting gene NF1 (neurofibromin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Neurofibromatosis,_type_1'] | AACCTATCTAGCTAGAGTTTTGTTGACTTTTTCAAAGAATCAGCTTCTGGTTTTGTAATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTT... | AACCTATCTAGCTAGAGTTTTGTTGACTTTTTCAAAGAATCAGCTTCTGGTTTTGTAATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTT... | pathogenic | 267,070 |
Variant on chromosome 17, at position 31201055, affecting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TAGCTAGAGTTTTGTTGACTTTTTCAAAGAATCAGCTTCTGGTTTTGTAATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTT... | TAGCTAGAGTTTTGTTGACTTTTTCAAAGAATCAGCTTCTGGTTTTGTAATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTT... | pathogenic | 267,072 |
Is chromosome 17, position 31201068, gene NF1 (neurofibromin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GTTGACTTTTTCAAAGAATCAGCTTCTGGTTTTGTAATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTA... | GTTGACTTTTTCAAAGAATCAGCTTCTGGTTTTGTAATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTA... | pathogenic | 267,077 |
Variant chromosome 17, position 31201074, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | TTTTTCAAAGAATCAGCTTCTGGTTTTGTAATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTT... | TTTTTCAAAGAATCAGCTTCTGGTTTTGTAATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTT... | pathogenic | 267,079 |
Evaluate if the mutation on chromosome 17 at position 31201083 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GAATCAGCTTCTGGTTTTGTAATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCAC... | GAATCAGCTTCTGGTTTTGTAATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCAC... | pathogenic | 267,082 |
Evaluate if the mutation on chromosome 17 at position 31201094 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TGGTTTTGTAATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACA... | TGGTTTTGTAATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACA... | pathogenic | 267,085 |
Is chromosome 17, position 31201103, gene NF1 (neurofibromin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | AATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACATATTTGTGA... | AATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACATATTTGTGA... | pathogenic | 267,087 |
Is the genetic change at chromosome 17, position 31201104, within gene NF1 (neurofibromin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Neurofibromatosis,_type_1'] | ATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACATATTTGTGAA... | ATTTTTCTCCATTGTTTTTCTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACATATTTGTGAA... | pathogenic | 267,088 |
Regarding the variant found on chromosome 17 at position 31201123 in gene NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACATATTTGTGAATTTTTTAGTTTTTTTATCT... | CTGTTCTCTCTTTTCACTCTAATTTTTATTATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACATATTTGTGAATTTTTTAGTTTTTTTATCT... | pathogenic | 267,095 |
Is the genetic variant on chromosome 17, position 31201152, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACATATTTGTGAATTTTTTAGTTTTTTTATCTGCTGTTGGTTTTTCATTTCCATTATGATC... | TATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACATATTTGTGAATTTTTTAGTTTTTTTATCTGCTGTTGGTTTTTCATTTCCATTATGATC... | pathogenic | 267,100 |
Clinical classification of chromosome 17, position 31201153, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACATATTTGTGAATTTTTTAGTTTTTTTATCTGCTGTTGGTTTTTCATTTCCATTATGATCA... | ATTTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACATATTTGTGAATTTTTTAGTTTTTTTATCTGCTGTTGGTTTTTCATTTCCATTATGATCA... | pathogenic | 267,101 |
Does the chromosome 17 mutation at position 31201155 within gene NF1 (neurofibromin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Neurofibromatosis,_type_1'] | TTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACATATTTGTGAATTTTTTAGTTTTTTTATCTGCTGTTGGTTTTTCATTTCCATTATGATCACA... | TTTCTTTCTTCTGCTAGCTTTGGTGTAGTTTACTCTTTTTCTAGTTCCTTGAGGTATATGGTTAGGTTATTGAATGAGAACTTTCTTATTTTTTGATGTCAGTGTTTACAGGTTTACATTTTTCTTTTAGCTCTGCATTCACTGCATCCTATAAGTTTTAGTATGTTGTGTTTTCGTTTTCATTTATCTCACGTTGGTTTCTAATTTCCTTTGTGATTTTTTCCTTTGATCTATTAGTTAACATTCACAAATTTTCACATATTTGTGAATTTTTTAGTTTTTTTATCTGCTGTTGGTTTTTCATTTCCATTATGATCACA... | pathogenic | 267,102 |
Clinical classification of chromosome 17, position 31201388, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | benign | TTAGTTAACATTCACAAATTTTCACATATTTGTGAATTTTTTAGTTTTTTTATCTGCTGTTGGTTTTTCATTTCCATTATGATCACAAAACATACTTTGTATGATTTCAGTTTCTTTAAATGTATTAAGACTTATTTTGTAGCCTAACATAGGTCTGTTTTGGAGAATGTTCCATGTACACTTGAGAAGAATATATTGTGCTGGTGTTGGGTGAGTTTAGTTTTTGACATGTTACATTTGAGCATTCATTTAGGAGAAAAGCCAAAGGAAGACATTTGTTAATGAACTGTAAAGAGGGGTTGACATCACAAGAATAGGTA... | TTAGTTAACATTCACAAATTTTCACATATTTGTGAATTTTTTAGTTTTTTTATCTGCTGTTGGTTTTTCATTTCCATTATGATCACAAAACATACTTTGTATGATTTCAGTTTCTTTAAATGTATTAAGACTTATTTTGTAGCCTAACATAGGTCTGTTTTGGAGAATGTTCCATGTACACTTGAGAAGAATATATTGTGCTGGTGTTGGGTGAGTTTAGTTTTTGACATGTTACATTTGAGCATTCATTTAGGAGAAAAGCCAAAGGAAGACATTTGTTAATGAACTGTAAAGAGGGGTTGACATCACAAGAATAGGTA... | benign | 267,114 |
Is the genetic change at chromosome 17, position 31201440, within gene NF1 (neurofibromin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TCTGCTGTTGGTTTTTCATTTCCATTATGATCACAAAACATACTTTGTATGATTTCAGTTTCTTTAAATGTATTAAGACTTATTTTGTAGCCTAACATAGGTCTGTTTTGGAGAATGTTCCATGTACACTTGAGAAGAATATATTGTGCTGGTGTTGGGTGAGTTTAGTTTTTGACATGTTACATTTGAGCATTCATTTAGGAGAAAAGCCAAAGGAAGACATTTGTTAATGAACTGTAAAGAGGGGTTGACATCACAAGAATAGGTAATTTTTTTTGAGAAACAAATTTAGAGCAACAGAACAGCCTTGAATATATTCT... | TCTGCTGTTGGTTTTTCATTTCCATTATGATCACAAAACATACTTTGTATGATTTCAGTTTCTTTAAATGTATTAAGACTTATTTTGTAGCCTAACATAGGTCTGTTTTGGAGAATGTTCCATGTACACTTGAGAAGAATATATTGTGCTGGTGTTGGGTGAGTTTAGTTTTTGACATGTTACATTTGAGCATTCATTTAGGAGAAAAGCCAAAGGAAGACATTTGTTAATGAACTGTAAAGAGGGGTTGACATCACAAGAATAGGTAATTTTTTTTGAGAAACAAATTTAGAGCAACAGAACAGCCTTGAATATATTCT... | pathogenic | 267,130 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 31201466, gene NF1 (neurofibromin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | ATGATCACAAAACATACTTTGTATGATTTCAGTTTCTTTAAATGTATTAAGACTTATTTTGTAGCCTAACATAGGTCTGTTTTGGAGAATGTTCCATGTACACTTGAGAAGAATATATTGTGCTGGTGTTGGGTGAGTTTAGTTTTTGACATGTTACATTTGAGCATTCATTTAGGAGAAAAGCCAAAGGAAGACATTTGTTAATGAACTGTAAAGAGGGGTTGACATCACAAGAATAGGTAATTTTTTTTGAGAAACAAATTTAGAGCAACAGAACAGCCTTGAATATATTCTTATTTAGAAGGCTGAAGGTTGAATAT... | ATGATCACAAAACATACTTTGTATGATTTCAGTTTCTTTAAATGTATTAAGACTTATTTTGTAGCCTAACATAGGTCTGTTTTGGAGAATGTTCCATGTACACTTGAGAAGAATATATTGTGCTGGTGTTGGGTGAGTTTAGTTTTTGACATGTTACATTTGAGCATTCATTTAGGAGAAAAGCCAAAGGAAGACATTTGTTAATGAACTGTAAAGAGGGGTTGACATCACAAGAATAGGTAATTTTTTTTGAGAAACAAATTTAGAGCAACAGAACAGCCTTGAATATATTCTTATTTAGAAGGCTGAAGGTTGAATAT... | pathogenic | 267,136 |
Is the variant located on chromosome 17 at position 31201479, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATACTTTGTATGATTTCAGTTTCTTTAAATGTATTAAGACTTATTTTGTAGCCTAACATAGGTCTGTTTTGGAGAATGTTCCATGTACACTTGAGAAGAATATATTGTGCTGGTGTTGGGTGAGTTTAGTTTTTGACATGTTACATTTGAGCATTCATTTAGGAGAAAAGCCAAAGGAAGACATTTGTTAATGAACTGTAAAGAGGGGTTGACATCACAAGAATAGGTAATTTTTTTTGAGAAACAAATTTAGAGCAACAGAACAGCCTTGAATATATTCTTATTTAGAAGGCTGAAGGTTGAATATAACCTGGAGTGTT... | ATACTTTGTATGATTTCAGTTTCTTTAAATGTATTAAGACTTATTTTGTAGCCTAACATAGGTCTGTTTTGGAGAATGTTCCATGTACACTTGAGAAGAATATATTGTGCTGGTGTTGGGTGAGTTTAGTTTTTGACATGTTACATTTGAGCATTCATTTAGGAGAAAAGCCAAAGGAAGACATTTGTTAATGAACTGTAAAGAGGGGTTGACATCACAAGAATAGGTAATTTTTTTTGAGAAACAAATTTAGAGCAACAGAACAGCCTTGAATATATTCTTATTTAGAAGGCTGAAGGTTGAATATAACCTGGAGTGTT... | pathogenic | 267,140 |
Evaluate if the mutation on chromosome 17 at position 31206271 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | TTTTTTCCTTACGACAATTTATCGTAATTTACATATGGATAGTTCACATACTGAAAATGAGATGATTGCTTTCTACTGAGAGGTTGTAGTTGAAAGGAATTGTTTCCAAGGCATTTGAAAATTATTTAAATCTCTTAAGGAATTGCCACATAATTTGTTCATATTATGTAAGTGTTGCCATTTGGCTATAAACATGGTATTTTCAAGGAAAAAAAGAGTAAGTCTACTTTAATTGACTGGTGTTCAGGAAGGGCACATTTAGTAACTGCTCAAAATACTAAACTTTTTTGCCAACCACATGATGTCTAGTTTTTCATACT... | TTTTTTCCTTACGACAATTTATCGTAATTTACATATGGATAGTTCACATACTGAAAATGAGATGATTGCTTTCTACTGAGAGGTTGTAGTTGAAAGGAATTGTTTCCAAGGCATTTGAAAATTATTTAAATCTCTTAAGGAATTGCCACATAATTTGTTCATATTATGTAAGTGTTGCCATTTGGCTATAAACATGGTATTTTCAAGGAAAAAAAGAGTAAGTCTACTTTAATTGACTGGTGTTCAGGAAGGGCACATTTAGTAACTGCTCAAAATACTAAACTTTTTTGCCAACCACATGATGTCTAGTTTTTCATACT... | pathogenic | 267,161 |
Determine if the mutation at chromosome 17, position 31206305 in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Neurofibromatosis,_type_1'] | ATGGATAGTTCACATACTGAAAATGAGATGATTGCTTTCTACTGAGAGGTTGTAGTTGAAAGGAATTGTTTCCAAGGCATTTGAAAATTATTTAAATCTCTTAAGGAATTGCCACATAATTTGTTCATATTATGTAAGTGTTGCCATTTGGCTATAAACATGGTATTTTCAAGGAAAAAAAGAGTAAGTCTACTTTAATTGACTGGTGTTCAGGAAGGGCACATTTAGTAACTGCTCAAAATACTAAACTTTTTTGCCAACCACATGATGTCTAGTTTTTCATACTTATTTTATTTGAAAATGTGTATTTTACTTTAAAA... | ATGGATAGTTCACATACTGAAAATGAGATGATTGCTTTCTACTGAGAGGTTGTAGTTGAAAGGAATTGTTTCCAAGGCATTTGAAAATTATTTAAATCTCTTAAGGAATTGCCACATAATTTGTTCATATTATGTAAGTGTTGCCATTTGGCTATAAACATGGTATTTTCAAGGAAAAAAAGAGTAAGTCTACTTTAATTGACTGGTGTTCAGGAAGGGCACATTTAGTAACTGCTCAAAATACTAAACTTTTTTGCCAACCACATGATGTCTAGTTTTTCATACTTATTTTATTTGAAAATGTGTATTTTACTTTAAAA... | pathogenic | 267,171 |
Variant chromosome 17, position 31206339, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CTTTCTACTGAGAGGTTGTAGTTGAAAGGAATTGTTTCCAAGGCATTTGAAAATTATTTAAATCTCTTAAGGAATTGCCACATAATTTGTTCATATTATGTAAGTGTTGCCATTTGGCTATAAACATGGTATTTTCAAGGAAAAAAAGAGTAAGTCTACTTTAATTGACTGGTGTTCAGGAAGGGCACATTTAGTAACTGCTCAAAATACTAAACTTTTTTGCCAACCACATGATGTCTAGTTTTTCATACTTATTTTATTTGAAAATGTGTATTTTACTTTAAAATGAATATATTATGAAAAATGAAAACTATGAAAAT... | CTTTCTACTGAGAGGTTGTAGTTGAAAGGAATTGTTTCCAAGGCATTTGAAAATTATTTAAATCTCTTAAGGAATTGCCACATAATTTGTTCATATTATGTAAGTGTTGCCATTTGGCTATAAACATGGTATTTTCAAGGAAAAAAAGAGTAAGTCTACTTTAATTGACTGGTGTTCAGGAAGGGCACATTTAGTAACTGCTCAAAATACTAAACTTTTTTGCCAACCACATGATGTCTAGTTTTTCATACTTATTTTATTTGAAAATGTGTATTTTACTTTAAAATGAATATATTATGAAAAATGAAAACTATGAAAAT... | pathogenic | 267,177 |
Variant at chromosome position 31206349, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Neurofibromatosis,_type_1'] | AGAGGTTGTAGTTGAAAGGAATTGTTTCCAAGGCATTTGAAAATTATTTAAATCTCTTAAGGAATTGCCACATAATTTGTTCATATTATGTAAGTGTTGCCATTTGGCTATAAACATGGTATTTTCAAGGAAAAAAAGAGTAAGTCTACTTTAATTGACTGGTGTTCAGGAAGGGCACATTTAGTAACTGCTCAAAATACTAAACTTTTTTGCCAACCACATGATGTCTAGTTTTTCATACTTATTTTATTTGAAAATGTGTATTTTACTTTAAAATGAATATATTATGAAAAATGAAAACTATGAAAATTACTAAATCT... | AGAGGTTGTAGTTGAAAGGAATTGTTTCCAAGGCATTTGAAAATTATTTAAATCTCTTAAGGAATTGCCACATAATTTGTTCATATTATGTAAGTGTTGCCATTTGGCTATAAACATGGTATTTTCAAGGAAAAAAAGAGTAAGTCTACTTTAATTGACTGGTGTTCAGGAAGGGCACATTTAGTAACTGCTCAAAATACTAAACTTTTTTGCCAACCACATGATGTCTAGTTTTTCATACTTATTTTATTTGAAAATGTGTATTTTACTTTAAAATGAATATATTATGAAAAATGAAAACTATGAAAATTACTAAATCT... | pathogenic | 267,178 |
Variant at chromosome 17, position 31206372, gene NF1 (neurofibromin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GTTTCCAAGGCATTTGAAAATTATTTAAATCTCTTAAGGAATTGCCACATAATTTGTTCATATTATGTAAGTGTTGCCATTTGGCTATAAACATGGTATTTTCAAGGAAAAAAAGAGTAAGTCTACTTTAATTGACTGGTGTTCAGGAAGGGCACATTTAGTAACTGCTCAAAATACTAAACTTTTTTGCCAACCACATGATGTCTAGTTTTTCATACTTATTTTATTTGAAAATGTGTATTTTACTTTAAAATGAATATATTATGAAAAATGAAAACTATGAAAATTACTAAATCTTAAGCCTAAAGTTATTTTATGTG... | GTTTCCAAGGCATTTGAAAATTATTTAAATCTCTTAAGGAATTGCCACATAATTTGTTCATATTATGTAAGTGTTGCCATTTGGCTATAAACATGGTATTTTCAAGGAAAAAAAGAGTAAGTCTACTTTAATTGACTGGTGTTCAGGAAGGGCACATTTAGTAACTGCTCAAAATACTAAACTTTTTTGCCAACCACATGATGTCTAGTTTTTCATACTTATTTTATTTGAAAATGTGTATTTTACTTTAAAATGAATATATTATGAAAAATGAAAACTATGAAAATTACTAAATCTTAAGCCTAAAGTTATTTTATGTG... | pathogenic | 267,184 |
Mutation at chromosome 17, position 31214448, within NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TATAACAATACAAAGTATACTATAGTAGGCTGGGCCTGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATA... | TATAACAATACAAAGTATACTATAGTAGGCTGGGCCTGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATA... | pathogenic | 267,190 |
A genetic variant at chromosome 17, position 31214456, affecting gene NF1 (neurofibromin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Neurofibromatosis,_type_1'] | TACAAAGTATACTATAGTAGGCTGGGCCTGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAA... | TACAAAGTATACTATAGTAGGCTGGGCCTGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAA... | pathogenic | 267,195 |
Is the variant located on chromosome 17 at position 31214471, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Neurofibromatosis,_type_1'] | AGTAGGCTGGGCCTGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCA... | AGTAGGCTGGGCCTGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCA... | pathogenic | 267,197 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 31214472, gene NF1 (neurofibromin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | GTAGGCTGGGCCTGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAG... | GTAGGCTGGGCCTGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAG... | pathogenic | 267,198 |
Regarding the variant found on chromosome 17 at position 31214493 in gene NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | ACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATC... | ACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATC... | pathogenic | 267,200 |
Variant chromosome 17, position 31214498, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | TGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTA... | TGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTA... | pathogenic | 267,202 |
Considering the variant on chromosome 17, location 31214506, involving gene NF1 (neurofibromin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATAC... | CAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATAC... | pathogenic | 267,204 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31214524 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | pathogenic | 267,209 |
The chromosome 17, position 31214547 genetic variant in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome'] | AGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTGCTATACTTTTTTTTTATATGACT... | AGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTGCTATACTTTTTTTTTATATGACT... | pathogenic | 267,216 |
Determine whether the variant at chromosome 17, position 31214554, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | GAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTGCTATACTTTTTTTTTATATGACTAGAAGTG... | GAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTGCTATACTTTTTTTTTATATGACTAGAAGTG... | pathogenic | 267,218 |
A genetic variant on chromosome 17, position 31214579, affects the gene NF1 (neurofibromin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTGCTATACTTTTTTTTTATATGACTAGAAGTGAAGATTTGTTTACACCAGCATCACT... | AACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTGCTATACTTTTTTTTTATATGACTAGAAGTGAAGATTTGTTTACACCAGCATCACT... | pathogenic | 267,222 |
Regarding the variant at chromosome 17 and position 31214585, affecting gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTGCTATACTTTTTTTTTATATGACTAGAAGTGAAGATTTGTTTACACCAGCATCACTACAAAC... | TTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTGCTATACTTTTTTTTTATATGACTAGAAGTGAAGATTTGTTTACACCAGCATCACTACAAAC... | pathogenic | 267,223 |
Variant on chromosome 17, at position 31214585, affecting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTGCTATACTTTTTTTTTATATGACTAGAAGTGAAGATTTGTTTACACCAGCATCACTACAAAC... | TTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTGCTATACTTTTTTTTTATATGACTAGAAGTGAAGATTTGTTTACACCAGCATCACTACAAAC... | pathogenic | 267,224 |
Regarding the variant found on chromosome 17 at position 31218969 in gene NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CTATTGTCACTGCACTAAGGAAGCCTCCCTGAGTCGGACACTTTTCCATGTTATAGGCTGTCATAGCAGCATGTACCTTAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTC... | CTATTGTCACTGCACTAAGGAAGCCTCCCTGAGTCGGACACTTTTCCATGTTATAGGCTGTCATAGCAGCATGTACCTTAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTC... | benign | 267,233 |
Variant at chromosome 17, position 31218989, gene NF1 (neurofibromin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AAGCCTCCCTGAGTCGGACACTTTTCCATGTTATAGGCTGTCATAGCAGCATGTACCTTAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCT... | AAGCCTCCCTGAGTCGGACACTTTTCCATGTTATAGGCTGTCATAGCAGCATGTACCTTAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCT... | benign | 267,234 |
A genetic alteration at chromosome 17, position 31219017, in gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Neurofibromatosis,_type_1'] | TGTTATAGGCTGTCATAGCAGCATGTACCTTAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACAC... | TGTTATAGGCTGTCATAGCAGCATGTACCTTAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACAC... | pathogenic | 267,237 |
The genetic variant at chromosome 17, position 31219017, affecting gene NF1 (neurofibromin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'NF1-related_disorder', 'Neurofibromatosis,_familial_spinal', 'Neurofibromatosis,_type_1', 'Neurofibromatosis-Noonan_syndrome', 'likely other unspecified diseases'] | TGTTATAGGCTGTCATAGCAGCATGTACCTTAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACAC... | TGTTATAGGCTGTCATAGCAGCATGTACCTTAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACAC... | pathogenic | 267,238 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31219029 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TCATAGCAGCATGTACCTTAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGG... | TCATAGCAGCATGTACCTTAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGG... | pathogenic | 267,244 |
Chromosome 17, position 31219040, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TGTACCTTAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGGCTTCATATATT... | TGTACCTTAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGGCTTCATATATT... | pathogenic | 267,248 |
Variant in gene NF1 (neurofibromin 1), located at chromosome 17 position 31219047: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGGCTTCATATATTCTTCTTT... | TAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGGCTTCATATATTCTTCTTT... | pathogenic | 267,251 |
Chromosome 17, position 31219047, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | TAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGGCTTCATATATTCTTCTTT... | TAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGGCTTCATATATTCTTCTTT... | pathogenic | 267,252 |
A mutation at chromosome position 31219058 on chromosome 17 in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGGCTTCATATATTCTTCTTTTTTTTTTTTCT... | CTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGGCTTCATATATTCTTCTTTTTTTTTTTTCT... | pathogenic | 267,255 |
Clinical classification of chromosome 17, position 31219075, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | TTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGGCTTCATATATTCTTCTTTTTTTTTTTTCTGAGACAGAGTCTCACTA... | TTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGGCTTCATATATTCTTCTTTTTTTTTTTTCTGAGACAGAGTCTCACTA... | pathogenic | 267,262 |
The genetic variant at chromosome 17, position 31219107, affecting gene NF1 (neurofibromin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | GATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGGCTTCATATATTCTTCTTTTTTTTTTTTCTGAGACAGAGTCTCACTATATTGCCCAGGCTAGAGTGCAGTGGTGTGATC... | GATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGGCTTCATATATTCTTCTTTTTTTTTTTTCTGAGACAGAGTCTCACTATATTGCCCAGGCTAGAGTGCAGTGGTGTGATC... | pathogenic | 267,273 |
Is chromosome 17, position 31221857, gene NF1 (neurofibromin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | ATCATAGAATATGTGGCCTTTTATGTCTGGCTACCTTGACTTAATGCTTTCAAGGTTCATTTATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGA... | ATCATAGAATATGTGGCCTTTTATGTCTGGCTACCTTGACTTAATGCTTTCAAGGTTCATTTATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGA... | pathogenic | 267,291 |
Clinical classification of chromosome 17, position 31221859, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | CATAGAATATGTGGCCTTTTATGTCTGGCTACCTTGACTTAATGCTTTCAAGGTTCATTTATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAG... | CATAGAATATGTGGCCTTTTATGTCTGGCTACCTTGACTTAATGCTTTCAAGGTTCATTTATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAG... | pathogenic | 267,293 |
Determine whether the variant at chromosome 17, position 31221868, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | TGTGGCCTTTTATGTCTGGCTACCTTGACTTAATGCTTTCAAGGTTCATTTATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTAT... | TGTGGCCTTTTATGTCTGGCTACCTTGACTTAATGCTTTCAAGGTTCATTTATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTAT... | pathogenic | 267,299 |
Mutation at chromosome 17, position 31221871, within NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GGCCTTTTATGTCTGGCTACCTTGACTTAATGCTTTCAAGGTTCATTTATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCAT... | GGCCTTTTATGTCTGGCTACCTTGACTTAATGCTTTCAAGGTTCATTTATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCAT... | pathogenic | 267,300 |
Classify the chromosome 17 variant at position 31221915 affecting gene NF1 (neurofibromin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATTTATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGT... | ATTTATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGT... | pathogenic | 267,310 |
Assess the variant on chromosome 17, position 31221919, impacting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGC... | ATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGC... | pathogenic | 267,312 |
Evaluate this variant at chromosome 17, position 31223448, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | AAGAGACTTTGTGGCAAGTGAGACAGTTTAAGTAAAAACTTAAAAGATAAGTAAATCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTA... | AAGAGACTTTGTGGCAAGTGAGACAGTTTAAGTAAAAACTTAAAAGATAAGTAAATCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTA... | pathogenic | 267,328 |
Benign or pathogenic: chromosome 17, position 31223448, gene NF1 (neurofibromin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | AAGAGACTTTGTGGCAAGTGAGACAGTTTAAGTAAAAACTTAAAAGATAAGTAAATCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTA... | AAGAGACTTTGTGGCAAGTGAGACAGTTTAAGTAAAAACTTAAAAGATAAGTAAATCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTA... | pathogenic | 267,330 |
Chromosome 17, position 31223454, gene NF1 (neurofibromin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Neurofibromatosis,_type_1'] | CTTTGTGGCAAGTGAGACAGTTTAAGTAAAAACTTAAAAGATAAGTAAATCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATAT... | CTTTGTGGCAAGTGAGACAGTTTAAGTAAAAACTTAAAAGATAAGTAAATCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATAT... | pathogenic | 267,332 |
A genetic alteration at chromosome 17, position 31223463, in gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Neurofibromatosis,_type_1'] | AAGTGAGACAGTTTAAGTAAAAACTTAAAAGATAAGTAAATCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACT... | AAGTGAGACAGTTTAAGTAAAAACTTAAAAGATAAGTAAATCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACT... | pathogenic | 267,336 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 31223474, gene NF1 (neurofibromin 1): what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TTTAAGTAAAAACTTAAAAGATAAGTAAATCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAG... | TTTAAGTAAAAACTTAAAAGATAAGTAAATCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAG... | pathogenic | 267,338 |
Determine if the mutation at chromosome 17, position 31223475 in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'NF1-related_disorder', 'Neurofibroma', 'Neurofibromatosis,_type_1'] | TTAAGTAAAAACTTAAAAGATAAGTAAATCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAGA... | TTAAGTAAAAACTTAAAAGATAAGTAAATCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAGA... | pathogenic | 267,339 |
Chromosome 17, position 31223503, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Neurofibromatosis,_type_1', 'likely other unspecified diseases'] | TCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAGAGCTCAATTTCTTAGCATTTATAAAATAA... | TCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAGAGCTCAATTTCTTAGCATTTATAAAATAA... | pathogenic | 267,346 |
Mutation at chromosome 17, position 31223505, within NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | TTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAGAGCTCAATTTCTTAGCATTTATAAAATAAGT... | TTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAGAGCTCAATTTCTTAGCATTTATAAAATAAGT... | pathogenic | 267,347 |
Variant at chromosome position 31223553, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Neurofibromatosis,_type_1'] | CTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAGAGCTCAATTTCTTAGCATTTATAAAATAAGTACTCCAGTGTTATGTTTACCAAAAATGTTTGAGTGAGTCTTCTCTTTG... | CTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAGAGCTCAATTTCTTAGCATTTATAAAATAAGTACTCCAGTGTTATGTTTACCAAAAATGTTTGAGTGAGTCTTCTCTTTG... | pathogenic | 267,356 |
Is the chromosome 17, position 31223563 variant in NF1 (neurofibromin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAGAGCTCAATTTCTTAGCATTTATAAAATAAGTACTCCAGTGTTATGTTTACCAAAAATGTTTGAGTGAGTCTTCTCTTTGTCTTTCTCTT... | CATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAGAGCTCAATTTCTTAGCATTTATAAAATAAGTACTCCAGTGTTATGTTTACCAAAAATGTTTGAGTGAGTCTTCTCTTTGTCTTTCTCTT... | pathogenic | 267,357 |
Classify the chromosome 17 variant at position 31223581 affecting gene NF1 (neurofibromin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAGAGCTCAATTTCTTAGCATTTATAAAATAAGTACTCCAGTGTTATGTTTACCAAAAATGTTTGAGTGAGTCTTCTCTTTGTCTTTCTCTTTTTTAAAAAATTCAGGCT... | CTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAGAGCTCAATTTCTTAGCATTTATAAAATAAGTACTCCAGTGTTATGTTTACCAAAAATGTTTGAGTGAGTCTTCTCTTTGTCTTTCTCTTTTTTAAAAAATTCAGGCT... | benign | 267,365 |
The mutation in gene NF1 (neurofibromin 1) at chromosome 17, position 31225072—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTTAACTAAAACTGTATATTTACAATAGCAAGTGATAGGCTAGGTTTGGCCTGTGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCT... | TTTAACTAAAACTGTATATTTACAATAGCAAGTGATAGGCTAGGTTTGGCCTGTGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCT... | benign | 267,367 |
Chromosome 17, position 31225079, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAAACTGTATATTTACAATAGCAAGTGATAGGCTAGGTTTGGCCTGTGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTG... | AAAACTGTATATTTACAATAGCAAGTGATAGGCTAGGTTTGGCCTGTGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTG... | benign | 267,368 |
Benign or pathogenic: chromosome 17, position 31225083, gene NF1 (neurofibromin 1) variant? Disease(s) if pathogenic? | benign | CTGTATATTTACAATAGCAAGTGATAGGCTAGGTTTGGCCTGTGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATT... | CTGTATATTTACAATAGCAAGTGATAGGCTAGGTTTGGCCTGTGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATT... | benign | 267,369 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31225099 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurofibromatosis,_type_1'] | GCAAGTGATAGGCTAGGTTTGGCCTGTGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGC... | GCAAGTGATAGGCTAGGTTTGGCCTGTGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGC... | pathogenic | 267,372 |
Does the variant impacting NF1 (neurofibromin 1) on chromosome 17, position 31225123, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TGTGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTG... | TGTGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTG... | pathogenic | 267,375 |
Regarding the variant at chromosome 17 and position 31225125, affecting gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCA... | TGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCA... | pathogenic | 267,377 |
Variant at chromosome position 31225125, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Neurofibromatosis,_type_1'] | TGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCA... | TGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCA... | pathogenic | 267,378 |
Does the chromosome 17 mutation at position 31225132 within gene NF1 (neurofibromin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Neurofibromatosis,_type_1'] | TAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTT... | TAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTT... | pathogenic | 267,379 |
Determine whether the variant at chromosome 17, position 31225133, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | AGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTA... | AGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTA... | pathogenic | 267,382 |
Gene mutation in NF1 (neurofibromin 1) at chromosome 17, position 31225156—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | GCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAA... | GCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAA... | pathogenic | 267,388 |
Clinical significance of chromosome 17, position 31225182, gene NF1 (neurofibromin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATG... | TGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATG... | pathogenic | 267,395 |
Chromosome 17, position 31225202, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAA... | TCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAA... | pathogenic | 267,403 |
Is the chromosome 17, position 31225203 variant in NF1 (neurofibromin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAA... | CTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAA... | pathogenic | 267,404 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31225216 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurofibromatosis,_type_1'] | CTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAATTAACTAGTCATC... | CTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAATTAACTAGTCATC... | pathogenic | 267,409 |
Considering the genetic mutation at chromosome 17, position 31225231, impacting NF1 (neurofibromin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neurofibromatosis,_type_1'] | ACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAATTAACTAGTCATCAAATGCTTAGTAGCA... | ACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAATTAACTAGTCATCAAATGCTTAGTAGCA... | pathogenic | 267,414 |
Clinical classification of chromosome 17, position 31225231, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAATTAACTAGTCATCAAATGCTTAGTAGCA... | ACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAATTAACTAGTCATCAAATGCTTAGTAGCA... | pathogenic | 267,415 |
Does the variant on chromosome 17 at location 31225242 affecting gene NF1 (neurofibromin 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAATTAACTAGTCATCAAATGCTTAGTAGCACAGAAATTCTC... | AACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAATTAACTAGTCATCAAATGCTTAGTAGCACAGAAATTCTC... | pathogenic | 267,417 |
Is the genetic variant on chromosome 17, position 31225255, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAATTAACTAGTCATCAAATGCTTAGTAGCACAGAAATTCTCAAGTGGTTGCGGG... | TAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAATTAACTAGTCATCAAATGCTTAGTAGCACAGAAATTCTCAAGTGGTTGCGGG... | benign | 267,419 |
A genetic variant at chromosome 17, position 31226432, affecting gene NF1 (neurofibromin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Neurofibromatosis,_type_1'] | ATGTATGAAACTCATATCCTTTTCAGTATTTACAGCTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTA... | ATGTATGAAACTCATATCCTTTTCAGTATTTACAGCTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTA... | pathogenic | 267,423 |
Clinically, how would you classify the variant at chromosome 17, position 31226459, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Chromosome_17q11.2_deletion_syndrome,_1.4Mb', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'NF1-related_disorder', 'Neurofibromatosis,_type_1', 'Tibial_pseudarthrosis'] | ATTTACAGCTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCC... | ATTTACAGCTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCC... | pathogenic | 267,433 |
Regarding the variant found on chromosome 17 at position 31226459 in gene NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'NF1-related_disorder', 'Neurofibromatosis,_type_1'] | ATTTACAGCTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCC... | ATTTACAGCTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCC... | pathogenic | 267,434 |
Variant at chromosome position 31226464, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CAGCTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACA... | CAGCTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACA... | pathogenic | 267,437 |
Variant at chromosome 17, position 31226466, gene NF1 (neurofibromin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GCTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATG... | GCTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATG... | pathogenic | 267,440 |
Clinically, how would you classify the variant at chromosome 17, position 31226466, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GCTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATG... | GCTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATG... | pathogenic | 267,441 |
Variant in NF1 (neurofibromin 1), chromosome 17, position 31226467—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGG... | CTTGTTATTAATAAATTGTCTCTTTAGAAATAGACTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGG... | pathogenic | 267,443 |
Gene NF1 (neurofibromin 1) variant at chromosome 17, position 31226501—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | CTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTG... | CTAATGGTGAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTG... | pathogenic | 267,450 |
Evaluate if the mutation on chromosome 17 at position 31226509 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1', 'likely other unspecified diseases'] | GAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAG... | GAAGTGGGTTTATTCACATGTGACTTATTTGATATGTTAATGTAGTGGAATTTGGCATTATTCCAAAGATACAGAAAGAGATTAGACTTCAGACTTTCATGGCCTCGCCTATGGTATAATCTCCAGAATGTGAGTATGAGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAG... | pathogenic | 267,456 |
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