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 |
|---|---|---|---|---|---|
The chromosome 5, position 132579346 genetic variant in gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CATTAAAGGACCCATGTGATTACATTTGCCCCATCCAAATAATCCAGGATAGTCTATTTTAAGGTCAAATGATTAACACCCTAATTCCATCTGTAATCTTAATTCTCTTTTGCTGTGCAATGTAACATTCACAAATTCAAGGGATTAAAATGTGGACATCTTGGAGGACCATTGTTCCATGTACCATAGCTAAGTAAATGCTAGTTTATTACTTTTTATTTGAAAATTTCTTTTTCTAGACCTCCATGATACAATACTGTTCTCTCTTTCTATCACAGCTACATACTACTTCATTCACCCCATCAATAAAGGTTGGAAGT... | CATTAAAGGACCCATGTGATTACATTTGCCCCATCCAAATAATCCAGGATAGTCTATTTTAAGGTCAAATGATTAACACCCTAATTCCATCTGTAATCTTAATTCTCTTTTGCTGTGCAATGTAACATTCACAAATTCAAGGGATTAAAATGTGGACATCTTGGAGGACCATTGTTCCATGTACCATAGCTAAGTAAATGCTAGTTTATTACTTTTTATTTGAAAATTTCTTTTTCTAGACCTCCATGATACAATACTGTTCTCTCTTTCTATCACAGCTACATACTACTTCATTCACCCCATCAATAAAGGTTGGAAGT... | pathogenic | 100,236 |
Gene RAD50 (RAD50 double strand break repair protein) variant at chromosome 5, position 132579402—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | TTTTAAGGTCAAATGATTAACACCCTAATTCCATCTGTAATCTTAATTCTCTTTTGCTGTGCAATGTAACATTCACAAATTCAAGGGATTAAAATGTGGACATCTTGGAGGACCATTGTTCCATGTACCATAGCTAAGTAAATGCTAGTTTATTACTTTTTATTTGAAAATTTCTTTTTCTAGACCTCCATGATACAATACTGTTCTCTCTTTCTATCACAGCTACATACTACTTCATTCACCCCATCAATAAAGGTTGGAAGTCTCATTAGGCTCAGTCCTGTATCTTCTCCTTTTTTTTGCTCTGTATTTTCTTCCTA... | TTTTAAGGTCAAATGATTAACACCCTAATTCCATCTGTAATCTTAATTCTCTTTTGCTGTGCAATGTAACATTCACAAATTCAAGGGATTAAAATGTGGACATCTTGGAGGACCATTGTTCCATGTACCATAGCTAAGTAAATGCTAGTTTATTACTTTTTATTTGAAAATTTCTTTTTCTAGACCTCCATGATACAATACTGTTCTCTCTTTCTATCACAGCTACATACTACTTCATTCACCCCATCAATAAAGGTTGGAAGTCTCATTAGGCTCAGTCCTGTATCTTCTCCTTTTTTTTGCTCTGTATTTTCTTCCTA... | pathogenic | 100,248 |
Clinical significance of chromosome 5, position 132579425, gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CCTAATTCCATCTGTAATCTTAATTCTCTTTTGCTGTGCAATGTAACATTCACAAATTCAAGGGATTAAAATGTGGACATCTTGGAGGACCATTGTTCCATGTACCATAGCTAAGTAAATGCTAGTTTATTACTTTTTATTTGAAAATTTCTTTTTCTAGACCTCCATGATACAATACTGTTCTCTCTTTCTATCACAGCTACATACTACTTCATTCACCCCATCAATAAAGGTTGGAAGTCTCATTAGGCTCAGTCCTGTATCTTCTCCTTTTTTTTGCTCTGTATTTTCTTCCTAGGTAATCACATTCTTATCCATTG... | CCTAATTCCATCTGTAATCTTAATTCTCTTTTGCTGTGCAATGTAACATTCACAAATTCAAGGGATTAAAATGTGGACATCTTGGAGGACCATTGTTCCATGTACCATAGCTAAGTAAATGCTAGTTTATTACTTTTTATTTGAAAATTTCTTTTTCTAGACCTCCATGATACAATACTGTTCTCTCTTTCTATCACAGCTACATACTACTTCATTCACCCCATCAATAAAGGTTGGAAGTCTCATTAGGCTCAGTCCTGTATCTTCTCCTTTTTTTTGCTCTGTATTTTCTTCCTAGGTAATCACATTCTTATCCATTG... | pathogenic | 100,252 |
Classify the chromosome 5 variant at position 132579492 affecting gene RAD50 (RAD50 double strand break repair protein) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | AAAATGTGGACATCTTGGAGGACCATTGTTCCATGTACCATAGCTAAGTAAATGCTAGTTTATTACTTTTTATTTGAAAATTTCTTTTTCTAGACCTCCATGATACAATACTGTTCTCTCTTTCTATCACAGCTACATACTACTTCATTCACCCCATCAATAAAGGTTGGAAGTCTCATTAGGCTCAGTCCTGTATCTTCTCCTTTTTTTTGCTCTGTATTTTCTTCCTAGGTAATCACATTCTTATCCATTGCTCAAACTACTCTGTGTTCATAGATGACTCACAGATTTATGTCATATCTCCAAACCAGACCTCTGTT... | AAAATGTGGACATCTTGGAGGACCATTGTTCCATGTACCATAGCTAAGTAAATGCTAGTTTATTACTTTTTATTTGAAAATTTCTTTTTCTAGACCTCCATGATACAATACTGTTCTCTCTTTCTATCACAGCTACATACTACTTCATTCACCCCATCAATAAAGGTTGGAAGTCTCATTAGGCTCAGTCCTGTATCTTCTCCTTTTTTTTGCTCTGTATTTTCTTCCTAGGTAATCACATTCTTATCCATTGCTCAAACTACTCTGTGTTCATAGATGACTCACAGATTTATGTCATATCTCCAAACCAGACCTCTGTT... | pathogenic | 100,260 |
Regarding the variant found on chromosome 5 at position 132579868 in gene RAD50 (RAD50 double strand break repair protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | TTTTTTTTTGAGATGGAGTCTTGCTCTGTCTGTCACCCAGGCTGGAGTGCAGTGGTGAAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGT... | TTTTTTTTTGAGATGGAGTCTTGCTCTGTCTGTCACCCAGGCTGGAGTGCAGTGGTGAAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGT... | pathogenic | 100,270 |
Determine whether the variant at chromosome 5, position 132579907, in gene RAD50 (RAD50 double strand break repair protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGCTGGAGTGCAGTGGTGAAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGTTTCAAAGACAACTTAGGTTCAACGTTTCCAAAACCAAAC... | GGCTGGAGTGCAGTGGTGAAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGTTTCAAAGACAACTTAGGTTCAACGTTTCCAAAACCAAAC... | pathogenic | 100,278 |
Considering the variant on chromosome 5, location 132579996, involving gene RAD50 (RAD50 double strand break repair protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | GGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGTTTCAAAGACAACTTAGGTTCAACGTTTCCAAAACCAAACTCAGTCCTTTCTCTTTGACCTCCCCCCTTAAAAAACCTCCAACAACTTGGTCTTATGGTATACCTCACCTTGGTGAATGATACCACTAT... | GGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGTTTCAAAGACAACTTAGGTTCAACGTTTCCAAAACCAAACTCAGTCCTTTCTCTTTGACCTCCCCCCTTAAAAAACCTCCAACAACTTGGTCTTATGGTATACCTCACCTTGGTGAATGATACCACTAT... | pathogenic | 100,292 |
Regarding the variant found on chromosome 5 at position 132579997 in gene RAD50 (RAD50 double strand break repair protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGTTTCAAAGACAACTTAGGTTCAACGTTTCCAAAACCAAACTCAGTCCTTTCTCTTTGACCTCCCCCCTTAAAAAACCTCCAACAACTTGGTCTTATGGTATACCTCACCTTGGTGAATGATACCACTATC... | GGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGTTTCAAAGACAACTTAGGTTCAACGTTTCCAAAACCAAACTCAGTCCTTTCTCTTTGACCTCCCCCCTTAAAAAACCTCCAACAACTTGGTCTTATGGTATACCTCACCTTGGTGAATGATACCACTATC... | pathogenic | 100,293 |
Evaluate if the mutation on chromosome 5 at position 132580023 in RAD50 (RAD50 double strand break repair protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGTTTCAAAGACAACTTAGGTTCAACGTTTCCAAAACCAAACTCAGTCCTTTCTCTTTGACCTCCCCCCTTAAAAAACCTCCAACAACTTGGTCTTATGGTATACCTCACCTTGGTGAATGATACCACTATCCGTCCAGTGACAAAAGCCAAGAACCT... | TGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGTTTCAAAGACAACTTAGGTTCAACGTTTCCAAAACCAAACTCAGTCCTTTCTCTTTGACCTCCCCCCTTAAAAAACCTCCAACAACTTGGTCTTATGGTATACCTCACCTTGGTGAATGATACCACTATCCGTCCAGTGACAAAAGCCAAGAACCT... | pathogenic | 100,296 |
Considering the variant on chromosome 5, location 132580039, involving gene RAD50 (RAD50 double strand break repair protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | TTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGTTTCAAAGACAACTTAGGTTCAACGTTTCCAAAACCAAACTCAGTCCTTTCTCTTTGACCTCCCCCCTTAAAAAACCTCCAACAACTTGGTCTTATGGTATACCTCACCTTGGTGAATGATACCACTATCCGTCCAGTGACAAAAGCCAAGAACCTAAGTCTTGATATGTCT... | TTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGTTTCAAAGACAACTTAGGTTCAACGTTTCCAAAACCAAACTCAGTCCTTTCTCTTTGACCTCCCCCCTTAAAAAACCTCCAACAACTTGGTCTTATGGTATACCTCACCTTGGTGAATGATACCACTATCCGTCCAGTGACAAAAGCCAAGAACCTAAGTCTTGATATGTCT... | pathogenic | 100,298 |
Gene RAD50 (RAD50 double strand break repair protein) variant at chromosome position 132580071 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGTTTCAAAGACAACTTAGGTTCAACGTTTCCAAAACCAAACTCAGTCCTTTCTCTTTGACCTCCCCCCTTAAAAAACCTCCAACAACTTGGTCTTATGGTATACCTCACCTTGGTGAATGATACCACTATCCGTCCAGTGACAAAAGCCAAGAACCTAAGTCTTGATATGTCTTTGCCTTCCATATCCAGTCTATTACTGAGACC... | CAGAATGGTCTTGATCTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCATCTCTGATTTTTTTTACCAGTTGTTTCAAAGACAACTTAGGTTCAACGTTTCCAAAACCAAACTCAGTCCTTTCTCTTTGACCTCCCCCCTTAAAAAACCTCCAACAACTTGGTCTTATGGTATACCTCACCTTGGTGAATGATACCACTATCCGTCCAGTGACAAAAGCCAAGAACCTAAGTCTTGATATGTCTTTGCCTTCCATATCCAGTCTATTACTGAGACC... | benign | 100,304 |
Does the variant impacting RAD50 (RAD50 double strand break repair protein) on chromosome 5, position 132587587, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTTTTCAATGTTATTTATTTATTGGTCATTTTATTATTGAGCTGTGAGAGTTCTTTTTTTTTTTTTTTTTTTTCTTGTTTTTTGAGACAGGGTCTCGCTGTCTTACCCAGGCCAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGACTCCCAGGCTCAAGTGATCCTTCCACCTCAGTCTCCCACGTAGCTGGGACTACAGGCACACACTCACCACACCGGTGAGACTTGTAGAGGCAAGGTCTCACCAGGTTACCCAGGCTGGTCTCAAACTTCTGGGCTCAAGCAATCAGCCTGCCTCAGTCTCCCAAAGT... | TTTTTCAATGTTATTTATTTATTGGTCATTTTATTATTGAGCTGTGAGAGTTCTTTTTTTTTTTTTTTTTTTTCTTGTTTTTTGAGACAGGGTCTCGCTGTCTTACCCAGGCCAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGACTCCCAGGCTCAAGTGATCCTTCCACCTCAGTCTCCCACGTAGCTGGGACTACAGGCACACACTCACCACACCGGTGAGACTTGTAGAGGCAAGGTCTCACCAGGTTACCCAGGCTGGTCTCAAACTTCTGGGCTCAAGCAATCAGCCTGCCTCAGTCTCCCAAAGT... | pathogenic | 100,306 |
Is chromosome 5, position 132587616, gene RAD50 (RAD50 double strand break repair protein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTTATTATTGAGCTGTGAGAGTTCTTTTTTTTTTTTTTTTTTTTCTTGTTTTTTGAGACAGGGTCTCGCTGTCTTACCCAGGCCAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGACTCCCAGGCTCAAGTGATCCTTCCACCTCAGTCTCCCACGTAGCTGGGACTACAGGCACACACTCACCACACCGGTGAGACTTGTAGAGGCAAGGTCTCACCAGGTTACCCAGGCTGGTCTCAAACTTCTGGGCTCAAGCAATCAGCCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACAGTGC... | TTTATTATTGAGCTGTGAGAGTTCTTTTTTTTTTTTTTTTTTTTCTTGTTTTTTGAGACAGGGTCTCGCTGTCTTACCCAGGCCAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGACTCCCAGGCTCAAGTGATCCTTCCACCTCAGTCTCCCACGTAGCTGGGACTACAGGCACACACTCACCACACCGGTGAGACTTGTAGAGGCAAGGTCTCACCAGGTTACCCAGGCTGGTCTCAAACTTCTGGGCTCAAGCAATCAGCCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACAGTGC... | pathogenic | 100,308 |
Variant at chromosome 5, position 132587956, gene RAD50 (RAD50 double strand break repair protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGTTCTGGATACAAGCCCTTTATCAGATATTGGTTTTGCAGATATTTCTTAACTGCTTTTCAGAGGACAGGAGTTTTAAATTTTGATCAGGTACAGTTTATAAACTTTTTTCTCTTATGGTTTATACTTTTTGTTTATTATTTAGGAAGTCTTTGACCCAGTGTCACAAAAATATTCTTCAGTGTTTTCCTCTAAAAGTTTTATAGTTTGAGTTCTTACAATTAAGTATATGCTTCATTTCAGAATCTTAATATGATATGAGGTAAAAGTTGAGGTTTACTTTCTTACATACAAATGTCCACTTCTTCTAGCACCCAGAG... | TGTTCTGGATACAAGCCCTTTATCAGATATTGGTTTTGCAGATATTTCTTAACTGCTTTTCAGAGGACAGGAGTTTTAAATTTTGATCAGGTACAGTTTATAAACTTTTTTCTCTTATGGTTTATACTTTTTGTTTATTATTTAGGAAGTCTTTGACCCAGTGTCACAAAAATATTCTTCAGTGTTTTCCTCTAAAAGTTTTATAGTTTGAGTTCTTACAATTAAGTATATGCTTCATTTCAGAATCTTAATATGATATGAGGTAAAAGTTGAGGTTTACTTTCTTACATACAAATGTCCACTTCTTCTAGCACCCAGAG... | pathogenic | 100,324 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 132588032, gene RAD50 (RAD50 double strand break repair protein): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'RAD50-related_disorder'] | TAAATTTTGATCAGGTACAGTTTATAAACTTTTTTCTCTTATGGTTTATACTTTTTGTTTATTATTTAGGAAGTCTTTGACCCAGTGTCACAAAAATATTCTTCAGTGTTTTCCTCTAAAAGTTTTATAGTTTGAGTTCTTACAATTAAGTATATGCTTCATTTCAGAATCTTAATATGATATGAGGTAAAAGTTGAGGTTTACTTTCTTACATACAAATGTCCACTTCTTCTAGCACCCAGAGCCTAGTCATTATGATACCCTGCCTTCTAATCTTATTGTTATCTTGTCTCCCAATCTTAACTATACAATTTTGTACA... | TAAATTTTGATCAGGTACAGTTTATAAACTTTTTTCTCTTATGGTTTATACTTTTTGTTTATTATTTAGGAAGTCTTTGACCCAGTGTCACAAAAATATTCTTCAGTGTTTTCCTCTAAAAGTTTTATAGTTTGAGTTCTTACAATTAAGTATATGCTTCATTTCAGAATCTTAATATGATATGAGGTAAAAGTTGAGGTTTACTTTCTTACATACAAATGTCCACTTCTTCTAGCACCCAGAGCCTAGTCATTATGATACCCTGCCTTCTAATCTTATTGTTATCTTGTCTCCCAATCTTAACTATACAATTTTGTACA... | pathogenic | 100,340 |
The mutation impacting RAD50 (RAD50 double strand break repair protein) on chromosome 5 at position 132588037: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTTGATCAGGTACAGTTTATAAACTTTTTTCTCTTATGGTTTATACTTTTTGTTTATTATTTAGGAAGTCTTTGACCCAGTGTCACAAAAATATTCTTCAGTGTTTTCCTCTAAAAGTTTTATAGTTTGAGTTCTTACAATTAAGTATATGCTTCATTTCAGAATCTTAATATGATATGAGGTAAAAGTTGAGGTTTACTTTCTTACATACAAATGTCCACTTCTTCTAGCACCCAGAGCCTAGTCATTATGATACCCTGCCTTCTAATCTTATTGTTATCTTGTCTCCCAATCTTAACTATACAATTTTGTACAAGTCA... | TTTGATCAGGTACAGTTTATAAACTTTTTTCTCTTATGGTTTATACTTTTTGTTTATTATTTAGGAAGTCTTTGACCCAGTGTCACAAAAATATTCTTCAGTGTTTTCCTCTAAAAGTTTTATAGTTTGAGTTCTTACAATTAAGTATATGCTTCATTTCAGAATCTTAATATGATATGAGGTAAAAGTTGAGGTTTACTTTCTTACATACAAATGTCCACTTCTTCTAGCACCCAGAGCCTAGTCATTATGATACCCTGCCTTCTAATCTTATTGTTATCTTGTCTCCCAATCTTAACTATACAATTTTGTACAAGTCA... | pathogenic | 100,341 |
Gene mutation in RAD50 (RAD50 double strand break repair protein) at chromosome 5, position 132588670—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GTTAAAGTCGAGGATGCATTTTGGTGCAATTATGAAAGCTTGCAATTGCTGTCTAAGCATTCCAATAACTTCATATGTTAGTTTAAAATTAGGTTCTGCTGGGCATGGTGGTACATACTTATAGTCTCAGCTACTTGGAGGCTGAGGTGGGAGGAACACTTGAGCCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATC... | GTTAAAGTCGAGGATGCATTTTGGTGCAATTATGAAAGCTTGCAATTGCTGTCTAAGCATTCCAATAACTTCATATGTTAGTTTAAAATTAGGTTCTGCTGGGCATGGTGGTACATACTTATAGTCTCAGCTACTTGGAGGCTGAGGTGGGAGGAACACTTGAGCCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATC... | benign | 100,354 |
The chromosome 5, position 132588671 genetic variant in gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TTAAAGTCGAGGATGCATTTTGGTGCAATTATGAAAGCTTGCAATTGCTGTCTAAGCATTCCAATAACTTCATATGTTAGTTTAAAATTAGGTTCTGCTGGGCATGGTGGTACATACTTATAGTCTCAGCTACTTGGAGGCTGAGGTGGGAGGAACACTTGAGCCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCA... | TTAAAGTCGAGGATGCATTTTGGTGCAATTATGAAAGCTTGCAATTGCTGTCTAAGCATTCCAATAACTTCATATGTTAGTTTAAAATTAGGTTCTGCTGGGCATGGTGGTACATACTTATAGTCTCAGCTACTTGGAGGCTGAGGTGGGAGGAACACTTGAGCCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCA... | benign | 100,355 |
Variant at chromosome position 132588802, chromosome 5, gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ACTTGGAGGCTGAGGTGGGAGGAACACTTGAGCCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGC... | ACTTGGAGGCTGAGGTGGGAGGAACACTTGAGCCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGC... | pathogenic | 100,371 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 132588805, gene RAD50 (RAD50 double strand break repair protein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | TGGAGGCTGAGGTGGGAGGAACACTTGAGCCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGCTCC... | TGGAGGCTGAGGTGGGAGGAACACTTGAGCCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGCTCC... | pathogenic | 100,372 |
Variant at chromosome position 132588808, chromosome 5, gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AGGCTGAGGTGGGAGGAACACTTGAGCCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGCTCCCTT... | AGGCTGAGGTGGGAGGAACACTTGAGCCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGCTCCCTT... | pathogenic | 100,374 |
The mutation in gene RAD50 (RAD50 double strand break repair protein) at chromosome 5, position 132588826—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CACTTGAGCCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGCTCCCTTGTTGTACTTTACTTGCTC... | CACTTGAGCCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGCTCCCTTGTTGTACTTTACTTGCTC... | pathogenic | 100,378 |
Does the variant impacting RAD50 (RAD50 double strand break repair protein) on chromosome 5, position 132588834, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | CCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGCTCCCTTGTTGTACTTTACTTGCTCAGAGTCCT... | CCCAGGAGTTCAAGTTGTATTGCACTGTTATTGCACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGCTCCCTTGTTGTACTTTACTTGCTCAGAGTCCT... | pathogenic | 100,379 |
Is the genetic variant on chromosome 5, position 132588868, gene RAD50 (RAD50 double strand break repair protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGCTCCCTTGTTGTACTTTACTTGCTCAGAGTCCTCTGTGGTTGAGCAAGCTTTGGATTAAAGTATACT... | ACCTGTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGCTCCCTTGTTGTACTTTACTTGCTCAGAGTCCTCTGTGGTTGAGCAAGCTTTGGATTAAAGTATACT... | pathogenic | 100,386 |
Gene RAD50 (RAD50 double strand break repair protein) variant at chromosome 5, position 132588872—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | GTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGCTCCCTTGTTGTACTTTACTTGCTCAGAGTCCTCTGTGGTTGAGCAAGCTTTGGATTAAAGTATACTCTTC... | GTGAATAGCCACTCCAGCCAGGGCAACATAGCAAGACCTTGTCTCTGCATTTGAAATAATAATAATAAAAGTAGGTTGTAAAAATGTCTTAGAAGAAGAGTTGGTCAGTTTTGGAATCATAGAGGCAAACACTAGAAGAATATCCCCAGCATCATCCAATAAGAGAATGCCCCGAACCAGATCCCAGTATTCCTGGGAGATGAGGCAACCAGCTGTCTCTGGAAGCGAGCCTCAGAGCAGGCCACTGAGCTCCCTTGTTGTACTTTACTTGCTCAGAGTCCTCTGTGGTTGAGCAAGCTTTGGATTAAAGTATACTCTTC... | pathogenic | 100,388 |
Evaluate the clinical significance of the mutation at chromosome 5, position 132589636 in gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | TCTCTCTAAAATAATGAAACTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTA... | TCTCTCTAAAATAATGAAACTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTA... | pathogenic | 100,395 |
For chromosome 5, position 132589643, gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AAAATAATGAAACTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGT... | AAAATAATGAAACTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGT... | pathogenic | 100,397 |
Is the chromosome 5, position 132589645 variant in RAD50 (RAD50 double strand break repair protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | AATAATGAAACTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGT... | AATAATGAAACTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGT... | pathogenic | 100,398 |
Clinical significance of chromosome 5, position 132589652, gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | AAACTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAG... | AAACTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAG... | pathogenic | 100,399 |
Variant in RAD50 (RAD50 double strand break repair protein), chromosome 5, position 132589655—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTT... | CTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTT... | pathogenic | 100,402 |
Is the chromosome 5, position 132589667 variant in RAD50 (RAD50 double strand break repair protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACT... | ATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACT... | pathogenic | 100,405 |
A genetic variant at chromosome 5, position 132589667, affecting gene RAD50 (RAD50 double strand break repair protein)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACT... | ATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACT... | pathogenic | 100,406 |
A mutation at chromosome position 132589671 on chromosome 5 in gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACTGATG... | AAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACTGATG... | pathogenic | 100,408 |
Evaluate the clinical significance of the mutation at chromosome 5, position 132589675 in gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACTGATGAGCA... | CTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACTGATGAGCA... | pathogenic | 100,409 |
Benign or pathogenic: chromosome 5, position 132589675, gene RAD50 (RAD50 double strand break repair protein) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | CTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACTGATGAGCA... | CTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACTGATGAGCA... | pathogenic | 100,410 |
Evaluate the clinical significance of the mutation at chromosome 5, position 132589695 in gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACTGATGAGCAACTAAATGACTTATATCACA... | AAATGGAGAAAGATAATAGTGAACTGGAAGAGAAAATGGAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACTGATGAGCAACTAAATGACTTATATCACA... | pathogenic | 100,412 |
Variant at chromosome position 132589733, chromosome 5, gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACTGATGAGCAACTAAATGACTTATATCACAATCACCAGAGAACAGTAAGGGAGAAAGAAAGGAAATTG... | GAAAAGGTTTGTGGTGGTAGAATTTTGTTCTGCTTCAAAATTTTGGGATTATTGTAATGAACTTTATTTGAATCCATTTTGCCATCCACATTGGAAAAAAACAAATACAGATCTTGTTACTTCTATGTATATGTTAAAATGAAGGATATTGAATAAGGTTTGGTTTATATTTGATACCTCAAAGTGATCATATTTTCTTATGTTTGTACATTAAAGCTTTTTATTTTGGTGTTACACAGGTTTTTCAAGGGACTGATGAGCAACTAAATGACTTATATCACAATCACCAGAGAACAGTAAGGGAGAAAGAAAGGAAATTG... | pathogenic | 100,421 |
Variant chromosome 5, position 132591312, gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGTATTTTACTGTATGTTTTCTGTGTTTAGATATGTTTAGATACATAAATACTTATCATCATGTTACAGTTGCCAAAGTATTCAGTACAGTAATATGCTGTATAGGTTTGTAGCCCATAAACAATAGGCTATACCATATAGTCTATGTGTGTATTAAACTATACCATGTAGGCTTATGTAAATACATTCTGATGTTCACACAATGATAAAATTGCCTAATGATGCATTTCTTGGAATATATCCCTGCTGAGCAACACACGACTGTACTTTTTTGTATTTTCTTCAGTGTACATATATTCCTTTTGCAATTAAAAAACTTA... | TGTATTTTACTGTATGTTTTCTGTGTTTAGATATGTTTAGATACATAAATACTTATCATCATGTTACAGTTGCCAAAGTATTCAGTACAGTAATATGCTGTATAGGTTTGTAGCCCATAAACAATAGGCTATACCATATAGTCTATGTGTGTATTAAACTATACCATGTAGGCTTATGTAAATACATTCTGATGTTCACACAATGATAAAATTGCCTAATGATGCATTTCTTGGAATATATCCCTGCTGAGCAACACACGACTGTACTTTTTTGTATTTTCTTCAGTGTACATATATTCCTTTTGCAATTAAAAAACTTA... | pathogenic | 100,453 |
Regarding the variant at chromosome 5 and position 132591390, affecting gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | TATTCAGTACAGTAATATGCTGTATAGGTTTGTAGCCCATAAACAATAGGCTATACCATATAGTCTATGTGTGTATTAAACTATACCATGTAGGCTTATGTAAATACATTCTGATGTTCACACAATGATAAAATTGCCTAATGATGCATTTCTTGGAATATATCCCTGCTGAGCAACACACGACTGTACTTTTTTGTATTTTCTTCAGTGTACATATATTCCTTTTGCAATTAAAAAACTTAAATTGTTTAGTAAATTATTAATGCTCATTCTTTACATATGCATTTAGAATGACTTTGCAGAAAAAGAGACTCTGAAAC... | TATTCAGTACAGTAATATGCTGTATAGGTTTGTAGCCCATAAACAATAGGCTATACCATATAGTCTATGTGTGTATTAAACTATACCATGTAGGCTTATGTAAATACATTCTGATGTTCACACAATGATAAAATTGCCTAATGATGCATTTCTTGGAATATATCCCTGCTGAGCAACACACGACTGTACTTTTTTGTATTTTCTTCAGTGTACATATATTCCTTTTGCAATTAAAAAACTTAAATTGTTTAGTAAATTATTAATGCTCATTCTTTACATATGCATTTAGAATGACTTTGCAGAAAAAGAGACTCTGAAAC... | pathogenic | 100,465 |
A genetic variant at chromosome 5, position 132591858, affecting gene RAD50 (RAD50 double strand break repair protein)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TGAACTGGACCAGGAGCTCATAAAAGCTGTAAGATATTGTTTGAATAATCTAATAATTTTAAGATATAATACTTTTAGAAGTATTTTGTCTATTTTTGATCCTAAGATTATAGCATTTTAATAAAAACATCAACTTTGTCTTATTCTCATGTAAAATGAATTCATCTGAATATCTTGATCTTCTGACTCTTTGGTTCTACAACCCGATAGCCTGAAAATTAGAATCACATAGGGAGCTTTTTAAAGATACTGTACTCAGACCTTAAAGCTTCAGACCTTCCAAATCAAAATCTCTGAGAATGGGGCATAGAAATGTACAT... | TGAACTGGACCAGGAGCTCATAAAAGCTGTAAGATATTGTTTGAATAATCTAATAATTTTAAGATATAATACTTTTAGAAGTATTTTGTCTATTTTTGATCCTAAGATTATAGCATTTTAATAAAAACATCAACTTTGTCTTATTCTCATGTAAAATGAATTCATCTGAATATCTTGATCTTCTGACTCTTTGGTTCTACAACCCGATAGCCTGAAAATTAGAATCACATAGGGAGCTTTTTAAAGATACTGTACTCAGACCTTAAAGCTTCAGACCTTCCAAATCAAAATCTCTGAGAATGGGGCATAGAAATGTACAT... | benign | 100,468 |
Variant at chromosome 5, position 132591944, gene RAD50 (RAD50 double strand break repair protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGTCTATTTTTGATCCTAAGATTATAGCATTTTAATAAAAACATCAACTTTGTCTTATTCTCATGTAAAATGAATTCATCTGAATATCTTGATCTTCTGACTCTTTGGTTCTACAACCCGATAGCCTGAAAATTAGAATCACATAGGGAGCTTTTTAAAGATACTGTACTCAGACCTTAAAGCTTCAGACCTTCCAAATCAAAATCTCTGAGAATGGGGCATAGAAATGTACATTCAAAACACAACAAAACTGGCTAATTCTTATGAGCACCTTGATTAAGAACACTTACCAGGCCGGGTGCGGTGTCTCACACCTGTAA... | TGTCTATTTTTGATCCTAAGATTATAGCATTTTAATAAAAACATCAACTTTGTCTTATTCTCATGTAAAATGAATTCATCTGAATATCTTGATCTTCTGACTCTTTGGTTCTACAACCCGATAGCCTGAAAATTAGAATCACATAGGGAGCTTTTTAAAGATACTGTACTCAGACCTTAAAGCTTCAGACCTTCCAAATCAAAATCTCTGAGAATGGGGCATAGAAATGTACATTCAAAACACAACAAAACTGGCTAATTCTTATGAGCACCTTGATTAAGAACACTTACCAGGCCGGGTGCGGTGTCTCACACCTGTAA... | pathogenic | 100,481 |
The chromosome 5, position 132591957 genetic variant in gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | TCCTAAGATTATAGCATTTTAATAAAAACATCAACTTTGTCTTATTCTCATGTAAAATGAATTCATCTGAATATCTTGATCTTCTGACTCTTTGGTTCTACAACCCGATAGCCTGAAAATTAGAATCACATAGGGAGCTTTTTAAAGATACTGTACTCAGACCTTAAAGCTTCAGACCTTCCAAATCAAAATCTCTGAGAATGGGGCATAGAAATGTACATTCAAAACACAACAAAACTGGCTAATTCTTATGAGCACCTTGATTAAGAACACTTACCAGGCCGGGTGCGGTGTCTCACACCTGTAATCCCAGCACTTTG... | TCCTAAGATTATAGCATTTTAATAAAAACATCAACTTTGTCTTATTCTCATGTAAAATGAATTCATCTGAATATCTTGATCTTCTGACTCTTTGGTTCTACAACCCGATAGCCTGAAAATTAGAATCACATAGGGAGCTTTTTAAAGATACTGTACTCAGACCTTAAAGCTTCAGACCTTCCAAATCAAAATCTCTGAGAATGGGGCATAGAAATGTACATTCAAAACACAACAAAACTGGCTAATTCTTATGAGCACCTTGATTAAGAACACTTACCAGGCCGGGTGCGGTGTCTCACACCTGTAATCCCAGCACTTTG... | pathogenic | 100,483 |
A genetic alteration at chromosome 5, position 132592012, in gene RAD50 (RAD50 double strand break repair protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | AATGAATTCATCTGAATATCTTGATCTTCTGACTCTTTGGTTCTACAACCCGATAGCCTGAAAATTAGAATCACATAGGGAGCTTTTTAAAGATACTGTACTCAGACCTTAAAGCTTCAGACCTTCCAAATCAAAATCTCTGAGAATGGGGCATAGAAATGTACATTCAAAACACAACAAAACTGGCTAATTCTTATGAGCACCTTGATTAAGAACACTTACCAGGCCGGGTGCGGTGTCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGCAGATAACGTGAGGTCAGGAGTTCAAGACCTGTCCAGCCA... | AATGAATTCATCTGAATATCTTGATCTTCTGACTCTTTGGTTCTACAACCCGATAGCCTGAAAATTAGAATCACATAGGGAGCTTTTTAAAGATACTGTACTCAGACCTTAAAGCTTCAGACCTTCCAAATCAAAATCTCTGAGAATGGGGCATAGAAATGTACATTCAAAACACAACAAAACTGGCTAATTCTTATGAGCACCTTGATTAAGAACACTTACCAGGCCGGGTGCGGTGTCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGCAGATAACGTGAGGTCAGGAGTTCAAGACCTGTCCAGCCA... | pathogenic | 100,492 |
Is the genetic variant on chromosome 5, position 132595635, gene RAD50 (RAD50 double strand break repair protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGGTTGGATAAGCGGGTCAAAAATTCCACACAGATTTTTGAGGAAAGTAGAAGGACTTGGCTTTGGTGGTGTTTAATCTGTGTTTCTTGTGGAAGTATCTGTGAGGGAATACAATATTGGAGTTTGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAG... | TGGTTGGATAAGCGGGTCAAAAATTCCACACAGATTTTTGAGGAAAGTAGAAGGACTTGGCTTTGGTGGTGTTTAATCTGTGTTTCTTGTGGAAGTATCTGTGAGGGAATACAATATTGGAGTTTGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAG... | pathogenic | 100,543 |
Located at chromosome 5 position 132595656, the variant affecting gene RAD50 (RAD50 double strand break repair protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AATTCCACACAGATTTTTGAGGAAAGTAGAAGGACTTGGCTTTGGTGGTGTTTAATCTGTGTTTCTTGTGGAAGTATCTGTGAGGGAATACAATATTGGAGTTTGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAG... | AATTCCACACAGATTTTTGAGGAAAGTAGAAGGACTTGGCTTTGGTGGTGTTTAATCTGTGTTTCTTGTGGAAGTATCTGTGAGGGAATACAATATTGGAGTTTGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAG... | pathogenic | 100,545 |
Determine if the mutation at chromosome 5, position 132595656 in gene RAD50 (RAD50 double strand break repair protein) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AATTCCACACAGATTTTTGAGGAAAGTAGAAGGACTTGGCTTTGGTGGTGTTTAATCTGTGTTTCTTGTGGAAGTATCTGTGAGGGAATACAATATTGGAGTTTGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAG... | AATTCCACACAGATTTTTGAGGAAAGTAGAAGGACTTGGCTTTGGTGGTGTTTAATCTGTGTTTCTTGTGGAAGTATCTGTGAGGGAATACAATATTGGAGTTTGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAG... | pathogenic | 100,546 |
Mutation at chromosome 5, position 132595667, within RAD50 (RAD50 double strand break repair protein): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GATTTTTGAGGAAAGTAGAAGGACTTGGCTTTGGTGGTGTTTAATCTGTGTTTCTTGTGGAAGTATCTGTGAGGGAATACAATATTGGAGTTTGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGA... | GATTTTTGAGGAAAGTAGAAGGACTTGGCTTTGGTGGTGTTTAATCTGTGTTTCTTGTGGAAGTATCTGTGAGGGAATACAATATTGGAGTTTGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGA... | pathogenic | 100,548 |
Is the genetic variant on chromosome 5, position 132595696, gene RAD50 (RAD50 double strand break repair protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | TTTGGTGGTGTTTAATCTGTGTTTCTTGTGGAAGTATCTGTGAGGGAATACAATATTGGAGTTTGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGAAAATAGTCTTCAAGGAGAAGGTCAACAGT... | TTTGGTGGTGTTTAATCTGTGTTTCTTGTGGAAGTATCTGTGAGGGAATACAATATTGGAGTTTGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGAAAATAGTCTTCAAGGAGAAGGTCAACAGT... | pathogenic | 100,554 |
Variant on chromosome 5, at position 132595758, affecting RAD50 (RAD50 double strand break repair protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGAAAATAGTCTTCAAGGAGAAGGTCAACAGTGTTTGGTGCTACGTAGAGGTAGAGTAAGATGAAGACTGTACTTGGCACTTAGGTCACTGGTG... | TTGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGAAAATAGTCTTCAAGGAGAAGGTCAACAGTGTTTGGTGCTACGTAGAGGTAGAGTAAGATGAAGACTGTACTTGGCACTTAGGTCACTGGTG... | pathogenic | 100,565 |
A genetic variant at chromosome 5, position 132595759, affecting gene RAD50 (RAD50 double strand break repair protein)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGAAAATAGTCTTCAAGGAGAAGGTCAACAGTGTTTGGTGCTACGTAGAGGTAGAGTAAGATGAAGACTGTACTTGGCACTTAGGTCACTGGTGA... | TGAAATTCAGGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGAAAATAGTCTTCAAGGAGAAGGTCAACAGTGTTTGGTGCTACGTAGAGGTAGAGTAAGATGAAGACTGTACTTGGCACTTAGGTCACTGGTGA... | pathogenic | 100,566 |
Variant in gene RAD50 (RAD50 double strand break repair protein), located at chromosome 5 position 132595768: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder', 'RAD50-related_disorder'] | GGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGAAAATAGTCTTCAAGGAGAAGGTCAACAGTGTTTGGTGCTACGTAGAGGTAGAGTAAGATGAAGACTGTACTTGGCACTTAGGTCACTGGTGATCTTGATGA... | GGAGATTGGAAGTTGTTGCTATGTAAGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGAAAATAGTCTTCAAGGAGAAGGTCAACAGTGTTTGGTGCTACGTAGAGGTAGAGTAAGATGAAGACTGTACTTGGCACTTAGGTCACTGGTGATCTTGATGA... | pathogenic | 100,569 |
Does the variant on chromosome 5 at location 132595793 affecting gene RAD50 (RAD50 double strand break repair protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | AGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGAAAATAGTCTTCAAGGAGAAGGTCAACAGTGTTTGGTGCTACGTAGAGGTAGAGTAAGATGAAGACTGTACTTGGCACTTAGGTCACTGGTGATCTTGATGAGAAGTGCTCAAGGGAGTCTAGGATA... | AGGGATACTCAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGAAAATAGTCTTCAAGGAGAAGGTCAACAGTGTTTGGTGCTACGTAGAGGTAGAGTAAGATGAAGACTGTACTTGGCACTTAGGTCACTGGTGATCTTGATGAGAAGTGCTCAAGGGAGTCTAGGATA... | pathogenic | 100,575 |
Determine if the mutation at chromosome 5, position 132595802 in gene RAD50 (RAD50 double strand break repair protein) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder', 'RAD50-related_disorder'] | CAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGAAAATAGTCTTCAAGGAGAAGGTCAACAGTGTTTGGTGCTACGTAGAGGTAGAGTAAGATGAAGACTGTACTTGGCACTTAGGTCACTGGTGATCTTGATGAGAAGTGCTCAAGGGAGTCTAGGATAATGAAAATA... | CAAAGTCATTAGTATGTCACCTTGAGAGAGTTATGCAAAGGGAAGGAGTTACAATTAGATTCCTGGGAAGCACAAACATTTAAAATGTTAGCAGGCAAAGGAAAAGGAGCAAGTGAAGGAAACTGGGATGTGCCCAGGGAACCAGGGTGAGAGCCAGATAGCTGTGGTGTCTAGGTGCCTTGGGAAAATAGTCTTCAAGGAGAAGGTCAACAGTGTTTGGTGCTACGTAGAGGTAGAGTAAGATGAAGACTGTACTTGGCACTTAGGTCACTGGTGATCTTGATGAGAAGTGCTCAAGGGAGTCTAGGATAATGAAAATA... | pathogenic | 100,578 |
Variant chromosome 5, position 132603350, gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AACTTCTTTTAACATCTTATGTAATCATCAAAAAAGAAGGCACCAAAACCTAGACCATATTGATGAAAGATTTTGTGTGTGTGTAGGAAAATGTAAAAATAGGGTTAAAATTGTATGTATACCTACAGTTCTTCACAGAGATGTCCCCAGTTTAATAAATGCTTGGCCATCATTATTAGGCTGTCATAGCTGTGTCACTTTTTAGATATTGGGCACATAATTTAAGGCCAACTACTAATCTGTGACAACAGTGTTCAAGAGGAAACATTGGCATGGAATTACTCATAACCTGCATACCTTCATATTTATTATGTGGAATA... | AACTTCTTTTAACATCTTATGTAATCATCAAAAAAGAAGGCACCAAAACCTAGACCATATTGATGAAAGATTTTGTGTGTGTGTAGGAAAATGTAAAAATAGGGTTAAAATTGTATGTATACCTACAGTTCTTCACAGAGATGTCCCCAGTTTAATAAATGCTTGGCCATCATTATTAGGCTGTCATAGCTGTGTCACTTTTTAGATATTGGGCACATAATTTAAGGCCAACTACTAATCTGTGACAACAGTGTTCAAGAGGAAACATTGGCATGGAATTACTCATAACCTGCATACCTTCATATTTATTATGTGGAATA... | pathogenic | 100,584 |
A genetic alteration at chromosome 5, position 132603405, in gene RAD50 (RAD50 double strand break repair protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | CATATTGATGAAAGATTTTGTGTGTGTGTAGGAAAATGTAAAAATAGGGTTAAAATTGTATGTATACCTACAGTTCTTCACAGAGATGTCCCCAGTTTAATAAATGCTTGGCCATCATTATTAGGCTGTCATAGCTGTGTCACTTTTTAGATATTGGGCACATAATTTAAGGCCAACTACTAATCTGTGACAACAGTGTTCAAGAGGAAACATTGGCATGGAATTACTCATAACCTGCATACCTTCATATTTATTATGTGGAATACAAATACCTCCTATTTCTGTGGTATAAAAAAAAACTGTAGGTCTGACATGCACAC... | CATATTGATGAAAGATTTTGTGTGTGTGTAGGAAAATGTAAAAATAGGGTTAAAATTGTATGTATACCTACAGTTCTTCACAGAGATGTCCCCAGTTTAATAAATGCTTGGCCATCATTATTAGGCTGTCATAGCTGTGTCACTTTTTAGATATTGGGCACATAATTTAAGGCCAACTACTAATCTGTGACAACAGTGTTCAAGAGGAAACATTGGCATGGAATTACTCATAACCTGCATACCTTCATATTTATTATGTGGAATACAAATACCTCCTATTTCTGTGGTATAAAAAAAAACTGTAGGTCTGACATGCACAC... | pathogenic | 100,597 |
The mutation in gene RAD50 (RAD50 double strand break repair protein) at chromosome 5, position 132604019—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | GCCTGTCTGCTGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTCATGGGTGCAGCAAACCACCATGGCACGTGTATACCTATGTAACAAACCCACACGTTCTGCACGTGTATCCCAGAACTTAAAGCATAAAAATAAATAAATAATTAAAAAATTTTAAAAAACTATAGGTCTGTTGCCACAGGTCAGGTTGGCATTTCTTGGTCATAGTTTGCATTTTTAAAAAATCATTAAGTAATAGCCACTTGAGTTTCTGGTTATTCTTTAAGTTTATAATAAGACTCCTATTAGAGAC... | GCCTGTCTGCTGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTCATGGGTGCAGCAAACCACCATGGCACGTGTATACCTATGTAACAAACCCACACGTTCTGCACGTGTATCCCAGAACTTAAAGCATAAAAATAAATAAATAATTAAAAAATTTTAAAAAACTATAGGTCTGTTGCCACAGGTCAGGTTGGCATTTCTTGGTCATAGTTTGCATTTTTAAAAAATCATTAAGTAATAGCCACTTGAGTTTCTGGTTATTCTTTAAGTTTATAATAAGACTCCTATTAGAGAC... | pathogenic | 100,619 |
Is the genetic variant on chromosome 5, position 132604038, gene RAD50 (RAD50 double strand break repair protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | GCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTCATGGGTGCAGCAAACCACCATGGCACGTGTATACCTATGTAACAAACCCACACGTTCTGCACGTGTATCCCAGAACTTAAAGCATAAAAATAAATAAATAATTAAAAAATTTTAAAAAACTATAGGTCTGTTGCCACAGGTCAGGTTGGCATTTCTTGGTCATAGTTTGCATTTTTAAAAAATCATTAAGTAATAGCCACTTGAGTTTCTGGTTATTCTTTAAGTTTATAATAAGACTCCTATTAGAGACCAGTTTAATTTATTCTACT... | GCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTCATGGGTGCAGCAAACCACCATGGCACGTGTATACCTATGTAACAAACCCACACGTTCTGCACGTGTATCCCAGAACTTAAAGCATAAAAATAAATAAATAATTAAAAAATTTTAAAAAACTATAGGTCTGTTGCCACAGGTCAGGTTGGCATTTCTTGGTCATAGTTTGCATTTTTAAAAAATCATTAAGTAATAGCCACTTGAGTTTCTGGTTATTCTTTAAGTTTATAATAAGACTCCTATTAGAGACCAGTTTAATTTATTCTACT... | pathogenic | 100,624 |
Clinical classification of chromosome 5, position 132604813, gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CCATCAATGCCTTTTCTGTTTCAGGGTTCCATGCAGGATCCCACGTAGCATCTAGTTGTTATTTCTCCTTAGGCTCCTGCAGTCTGTAACAATCTGTCTTTATCTTTCATGACCTTAACACTTTTGGTCAATATGACCAGTTCATTAGTAGAATATTTCTCAGTTTGACAAACACCACAGTAATAATTATTGCAAGCAAGATCTGTCAGTGGATACTAAAATCAGTAGGCAGAAAGTTGAGAAGCAAGATATTTACATAGTCTCAACATTTCTCTCCTAAGATACTTGTTAATTACAAAGACTAAAACAGTAACTTTACA... | CCATCAATGCCTTTTCTGTTTCAGGGTTCCATGCAGGATCCCACGTAGCATCTAGTTGTTATTTCTCCTTAGGCTCCTGCAGTCTGTAACAATCTGTCTTTATCTTTCATGACCTTAACACTTTTGGTCAATATGACCAGTTCATTAGTAGAATATTTCTCAGTTTGACAAACACCACAGTAATAATTATTGCAAGCAAGATCTGTCAGTGGATACTAAAATCAGTAGGCAGAAAGTTGAGAAGCAAGATATTTACATAGTCTCAACATTTCTCTCCTAAGATACTTGTTAATTACAAAGACTAAAACAGTAACTTTACA... | pathogenic | 100,628 |
The mutation impacting RAD50 (RAD50 double strand break repair protein) on chromosome 5 at position 132604964: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AATATTTCTCAGTTTGACAAACACCACAGTAATAATTATTGCAAGCAAGATCTGTCAGTGGATACTAAAATCAGTAGGCAGAAAGTTGAGAAGCAAGATATTTACATAGTCTCAACATTTCTCTCCTAAGATACTTGTTAATTACAAAGACTAAAACAGTAACTTTACAGTGGAGAAACCTGGCCAACACCATCTAAGCCAAGTGAATAAGGATTAACATCATCAGTAATAAGACATATTGATATCATGATTCCATATCCACTGATATGATACCCTGAAAAGAACACAATGTCACTTCTGTGGTATTCTTCCTAAAAATA... | AATATTTCTCAGTTTGACAAACACCACAGTAATAATTATTGCAAGCAAGATCTGTCAGTGGATACTAAAATCAGTAGGCAGAAAGTTGAGAAGCAAGATATTTACATAGTCTCAACATTTCTCTCCTAAGATACTTGTTAATTACAAAGACTAAAACAGTAACTTTACAGTGGAGAAACCTGGCCAACACCATCTAAGCCAAGTGAATAAGGATTAACATCATCAGTAATAAGACATATTGATATCATGATTCCATATCCACTGATATGATACCCTGAAAAGAACACAATGTCACTTCTGTGGTATTCTTCCTAAAAATA... | pathogenic | 100,652 |
Evaluate if the mutation on chromosome 5 at position 132604987 in RAD50 (RAD50 double strand break repair protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CCACAGTAATAATTATTGCAAGCAAGATCTGTCAGTGGATACTAAAATCAGTAGGCAGAAAGTTGAGAAGCAAGATATTTACATAGTCTCAACATTTCTCTCCTAAGATACTTGTTAATTACAAAGACTAAAACAGTAACTTTACAGTGGAGAAACCTGGCCAACACCATCTAAGCCAAGTGAATAAGGATTAACATCATCAGTAATAAGACATATTGATATCATGATTCCATATCCACTGATATGATACCCTGAAAAGAACACAATGTCACTTCTGTGGTATTCTTCCTAAAAATACATAACCTCAGTCTAACTGTGAG... | CCACAGTAATAATTATTGCAAGCAAGATCTGTCAGTGGATACTAAAATCAGTAGGCAGAAAGTTGAGAAGCAAGATATTTACATAGTCTCAACATTTCTCTCCTAAGATACTTGTTAATTACAAAGACTAAAACAGTAACTTTACAGTGGAGAAACCTGGCCAACACCATCTAAGCCAAGTGAATAAGGATTAACATCATCAGTAATAAGACATATTGATATCATGATTCCATATCCACTGATATGATACCCTGAAAAGAACACAATGTCACTTCTGTGGTATTCTTCCTAAAAATACATAACCTCAGTCTAACTGTGAG... | pathogenic | 100,655 |
Determine whether the variant at chromosome 5, position 132608637, in gene RAD50 (RAD50 double strand break repair protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AAAAGAGGGAATCCTCCCTAACTCATTTTATAAGGCCAGCATCATCCTGATACCAAAACCTAGCAGAGACACAACAAAAAAAGAAAATTTCAGGCCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACGTCAAAAAGCTTATCCACCACGATCAAGTCGGCTTTATTCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAATGTAATCCATCACATGAACAGAACCAAAGACAAAAACCACATGATTATCCCAATAGATGGAGAAAAGGCCTTCGATA... | AAAAGAGGGAATCCTCCCTAACTCATTTTATAAGGCCAGCATCATCCTGATACCAAAACCTAGCAGAGACACAACAAAAAAAGAAAATTTCAGGCCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACGTCAAAAAGCTTATCCACCACGATCAAGTCGGCTTTATTCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAATGTAATCCATCACATGAACAGAACCAAAGACAAAAACCACATGATTATCCCAATAGATGGAGAAAAGGCCTTCGATA... | pathogenic | 100,664 |
A genetic variant at chromosome 5, position 132608682, affecting gene RAD50 (RAD50 double strand break repair protein)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | CCTGATACCAAAACCTAGCAGAGACACAACAAAAAAAGAAAATTTCAGGCCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACGTCAAAAAGCTTATCCACCACGATCAAGTCGGCTTTATTCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAATGTAATCCATCACATGAACAGAACCAAAGACAAAAACCACATGATTATCCCAATAGATGGAGAAAAGGCCTTCGATAAAATTCAACACCGCTTCATGCTAAAAGCTCTCAATAAACTAGGTA... | CCTGATACCAAAACCTAGCAGAGACACAACAAAAAAAGAAAATTTCAGGCCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACGTCAAAAAGCTTATCCACCACGATCAAGTCGGCTTTATTCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAATGTAATCCATCACATGAACAGAACCAAAGACAAAAACCACATGATTATCCCAATAGATGGAGAAAAGGCCTTCGATAAAATTCAACACCGCTTCATGCTAAAAGCTCTCAATAAACTAGGTA... | pathogenic | 100,671 |
The chromosome 5, position 132608686 genetic variant in gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATACCAAAACCTAGCAGAGACACAACAAAAAAAGAAAATTTCAGGCCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACGTCAAAAAGCTTATCCACCACGATCAAGTCGGCTTTATTCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAATGTAATCCATCACATGAACAGAACCAAAGACAAAAACCACATGATTATCCCAATAGATGGAGAAAAGGCCTTCGATAAAATTCAACACCGCTTCATGCTAAAAGCTCTCAATAAACTAGGTATCGA... | ATACCAAAACCTAGCAGAGACACAACAAAAAAAGAAAATTTCAGGCCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACGTCAAAAAGCTTATCCACCACGATCAAGTCGGCTTTATTCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAATGTAATCCATCACATGAACAGAACCAAAGACAAAAACCACATGATTATCCCAATAGATGGAGAAAAGGCCTTCGATAAAATTCAACACCGCTTCATGCTAAAAGCTCTCAATAAACTAGGTATCGA... | pathogenic | 100,673 |
Chromosome 5, position 132608689, gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | CCAAAACCTAGCAGAGACACAACAAAAAAAGAAAATTTCAGGCCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACGTCAAAAAGCTTATCCACCACGATCAAGTCGGCTTTATTCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAATGTAATCCATCACATGAACAGAACCAAAGACAAAAACCACATGATTATCCCAATAGATGGAGAAAAGGCCTTCGATAAAATTCAACACCGCTTCATGCTAAAAGCTCTCAATAAACTAGGTATCGATGG... | CCAAAACCTAGCAGAGACACAACAAAAAAAGAAAATTTCAGGCCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACGTCAAAAAGCTTATCCACCACGATCAAGTCGGCTTTATTCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAATGTAATCCATCACATGAACAGAACCAAAGACAAAAACCACATGATTATCCCAATAGATGGAGAAAAGGCCTTCGATAAAATTCAACACCGCTTCATGCTAAAAGCTCTCAATAAACTAGGTATCGATGG... | pathogenic | 100,674 |
Determine whether the variant at chromosome 5, position 132609185, in gene RAD50 (RAD50 double strand break repair protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GATTTCTGGAAGAAGGAGTTTGCCATAATAAGGAAGAACTGGCTGCCTGGTTAAGTAGTAAATGTTATTGGAGGTGGTCAGGTGGTGGTTGGTTAATTCTGTATAAGGATTCCTGCTTGTACAGGAGGTTTGTCTTATCTGCAGATCCTTTATCTATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATA... | GATTTCTGGAAGAAGGAGTTTGCCATAATAAGGAAGAACTGGCTGCCTGGTTAAGTAGTAAATGTTATTGGAGGTGGTCAGGTGGTGGTTGGTTAATTCTGTATAAGGATTCCTGCTTGTACAGGAGGTTTGTCTTATCTGCAGATCCTTTATCTATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATA... | pathogenic | 100,690 |
Variant on chromosome 5, at position 132609272, affecting RAD50 (RAD50 double strand break repair protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTTGGTTAATTCTGTATAAGGATTCCTGCTTGTACAGGAGGTTTGTCTTATCTGCAGATCCTTTATCTATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATT... | GTTGGTTAATTCTGTATAAGGATTCCTGCTTGTACAGGAGGTTTGTCTTATCTGCAGATCCTTTATCTATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATT... | benign | 100,694 |
Benign or pathogenic: chromosome 5, position 132609285, gene RAD50 (RAD50 double strand break repair protein) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GTATAAGGATTCCTGCTTGTACAGGAGGTTTGTCTTATCTGCAGATCCTTTATCTATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTA... | GTATAAGGATTCCTGCTTGTACAGGAGGTTTGTCTTATCTGCAGATCCTTTATCTATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTA... | pathogenic | 100,696 |
Considering the genetic mutation at chromosome 5, position 132609293, impacting RAD50 (RAD50 double strand break repair protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTCCTGCTTGTACAGGAGGTTTGTCTTATCTGCAGATCCTTTATCTATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATAT... | ATTCCTGCTTGTACAGGAGGTTTGTCTTATCTGCAGATCCTTTATCTATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATAT... | pathogenic | 100,697 |
The mutation in gene RAD50 (RAD50 double strand break repair protein) at chromosome 5, position 132609295—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | TCCTGCTTGTACAGGAGGTTTGTCTTATCTGCAGATCCTTTATCTATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATATCA... | TCCTGCTTGTACAGGAGGTTTGTCTTATCTGCAGATCCTTTATCTATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATATCA... | pathogenic | 100,698 |
Evaluate if the mutation on chromosome 5 at position 132609298 in RAD50 (RAD50 double strand break repair protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGCTTGTACAGGAGGTTTGTCTTATCTGCAGATCCTTTATCTATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATATCAGAG... | TGCTTGTACAGGAGGTTTGTCTTATCTGCAGATCCTTTATCTATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATATCAGAG... | pathogenic | 100,700 |
Assess the variant on chromosome 5, position 132609339, impacting RAD50 (RAD50 double strand break repair protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATATCAGAGGTTCAGAATATAATATAAAATAGTACTTGCATCTGTATAAT... | TATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATATCAGAGGTTCAGAATATAATATAAAATAGTACTTGCATCTGTATAAT... | pathogenic | 100,707 |
A genetic alteration at chromosome 5, position 132609339, in gene RAD50 (RAD50 double strand break repair protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neoplasm_of_the_skin', 'Nijmegen_breakage_syndrome-like_disorder'] | TATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATATCAGAGGTTCAGAATATAATATAAAATAGTACTTGCATCTGTATAAT... | TATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATATCAGAGGTTCAGAATATAATATAAAATAGTACTTGCATCTGTATAAT... | pathogenic | 100,708 |
Is the genetic change at chromosome 5, position 132609339, within gene RAD50 (RAD50 double strand break repair protein) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATATCAGAGGTTCAGAATATAATATAAAATAGTACTTGCATCTGTATAAT... | TATGGCGGTCACTCTCAGTCATAGCACTCTTTCCATTTGATTCCGGATGTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATATCAGAGGTTCAGAATATAATATAAAATAGTACTTGCATCTGTATAAT... | pathogenic | 100,709 |
Is the variant located on chromosome 5 at position 132609387, gene RAD50 (RAD50 double strand break repair protein), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | GTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATATCAGAGGTTCAGAATATAATATAAAATAGTACTTGCATCTGTATAATTTTTTACTATTTATAAAGCACTTTGACATTGAACCATTCAGTGCCTCA... | GTGGTTTCAGAACCCTTACCAATACAGTGAGCAGGCACTCAGTTGCCACTGGAATGCATTTGACATCCCTTATATAGATTAATCACATCTAAGACTCAACCAGTTATAAACAGTTATAAACAATCTTACCTAGGTTTATATAATTATGCGTACTCATTCAATAAGCACTAAGTATATTACTGAATAATTACTATAAATTTTTATTAAATTTTAGATTACAAAATATCAGAGGTTCAGAATATAATATAAAATAGTACTTGCATCTGTATAATTTTTTACTATTTATAAAGCACTTTGACATTGAACCATTCAGTGCCTCA... | pathogenic | 100,715 |
Chromosome 5, position 132616029, gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CCAAAGTTATCCAGTTTAAAAGTAATAACACTGTGATTTGAGCCTAGATGTATCTGACTTCAAAGCATTACACTCTTGATGTGGTATATACTGTCTTTCAAAACTAGAAGAATAATGGAAGCTGACCTAAAACAAAGAAATGCCTAGCTGTCTGGTAACAATGCAGGTAGACAGACCAGCAACAATATTTTGTGCCAAAAATCAGTCTCATCTAAAAATGTGATAGCACTTTAAAGAGTCCTTTCATGCAATTGTGAAAACAAATTCAAATGTTCTGGGGTATTAGATGAAAGTAAGCAGTAGCACATTCCCTTGTTCCT... | CCAAAGTTATCCAGTTTAAAAGTAATAACACTGTGATTTGAGCCTAGATGTATCTGACTTCAAAGCATTACACTCTTGATGTGGTATATACTGTCTTTCAAAACTAGAAGAATAATGGAAGCTGACCTAAAACAAAGAAATGCCTAGCTGTCTGGTAACAATGCAGGTAGACAGACCAGCAACAATATTTTGTGCCAAAAATCAGTCTCATCTAAAAATGTGATAGCACTTTAAAGAGTCCTTTCATGCAATTGTGAAAACAAATTCAAATGTTCTGGGGTATTAGATGAAAGTAAGCAGTAGCACATTCCCTTGTTCCT... | pathogenic | 100,723 |
The mutation in gene RAD50 (RAD50 double strand break repair protein) at chromosome 5, position 132616034—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | GTTATCCAGTTTAAAAGTAATAACACTGTGATTTGAGCCTAGATGTATCTGACTTCAAAGCATTACACTCTTGATGTGGTATATACTGTCTTTCAAAACTAGAAGAATAATGGAAGCTGACCTAAAACAAAGAAATGCCTAGCTGTCTGGTAACAATGCAGGTAGACAGACCAGCAACAATATTTTGTGCCAAAAATCAGTCTCATCTAAAAATGTGATAGCACTTTAAAGAGTCCTTTCATGCAATTGTGAAAACAAATTCAAATGTTCTGGGGTATTAGATGAAAGTAAGCAGTAGCACATTCCCTTGTTCCTAATAA... | GTTATCCAGTTTAAAAGTAATAACACTGTGATTTGAGCCTAGATGTATCTGACTTCAAAGCATTACACTCTTGATGTGGTATATACTGTCTTTCAAAACTAGAAGAATAATGGAAGCTGACCTAAAACAAAGAAATGCCTAGCTGTCTGGTAACAATGCAGGTAGACAGACCAGCAACAATATTTTGTGCCAAAAATCAGTCTCATCTAAAAATGTGATAGCACTTTAAAGAGTCCTTTCATGCAATTGTGAAAACAAATTCAAATGTTCTGGGGTATTAGATGAAAGTAAGCAGTAGCACATTCCCTTGTTCCTAATAA... | pathogenic | 100,724 |
The mutation impacting RAD50 (RAD50 double strand break repair protein) on chromosome 5 at position 132616125: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | TTCAAAACTAGAAGAATAATGGAAGCTGACCTAAAACAAAGAAATGCCTAGCTGTCTGGTAACAATGCAGGTAGACAGACCAGCAACAATATTTTGTGCCAAAAATCAGTCTCATCTAAAAATGTGATAGCACTTTAAAGAGTCCTTTCATGCAATTGTGAAAACAAATTCAAATGTTCTGGGGTATTAGATGAAAGTAAGCAGTAGCACATTCCCTTGTTCCTAATAAGGAACAACAAGCATAGTACCCCATAGTAGAACCTTGGTAAGTCACACCAGCTACAGTGGTACATTAGATTGCTTTAGCAACAAAGGACATT... | TTCAAAACTAGAAGAATAATGGAAGCTGACCTAAAACAAAGAAATGCCTAGCTGTCTGGTAACAATGCAGGTAGACAGACCAGCAACAATATTTTGTGCCAAAAATCAGTCTCATCTAAAAATGTGATAGCACTTTAAAGAGTCCTTTCATGCAATTGTGAAAACAAATTCAAATGTTCTGGGGTATTAGATGAAAGTAAGCAGTAGCACATTCCCTTGTTCCTAATAAGGAACAACAAGCATAGTACCCCATAGTAGAACCTTGGTAAGTCACACCAGCTACAGTGGTACATTAGATTGCTTTAGCAACAAAGGACATT... | pathogenic | 100,736 |
Evaluate the clinical significance of the mutation at chromosome 5, position 132616140 in gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATAATGGAAGCTGACCTAAAACAAAGAAATGCCTAGCTGTCTGGTAACAATGCAGGTAGACAGACCAGCAACAATATTTTGTGCCAAAAATCAGTCTCATCTAAAAATGTGATAGCACTTTAAAGAGTCCTTTCATGCAATTGTGAAAACAAATTCAAATGTTCTGGGGTATTAGATGAAAGTAAGCAGTAGCACATTCCCTTGTTCCTAATAAGGAACAACAAGCATAGTACCCCATAGTAGAACCTTGGTAAGTCACACCAGCTACAGTGGTACATTAGATTGCTTTAGCAACAAAGGACATTTATAACCATGTCATT... | ATAATGGAAGCTGACCTAAAACAAAGAAATGCCTAGCTGTCTGGTAACAATGCAGGTAGACAGACCAGCAACAATATTTTGTGCCAAAAATCAGTCTCATCTAAAAATGTGATAGCACTTTAAAGAGTCCTTTCATGCAATTGTGAAAACAAATTCAAATGTTCTGGGGTATTAGATGAAAGTAAGCAGTAGCACATTCCCTTGTTCCTAATAAGGAACAACAAGCATAGTACCCCATAGTAGAACCTTGGTAAGTCACACCAGCTACAGTGGTACATTAGATTGCTTTAGCAACAAAGGACATTTATAACCATGTCATT... | benign | 100,741 |
Is chromosome 5, position 132618111, gene RAD50 (RAD50 double strand break repair protein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | GAAGTTGAAGAAGAAAGAAAACAACATTTGAAGGAAATGGGTCAAATGCAGGTTTTGCAAATGAAAAGGTATGCTTTTAAAATAATCTTCAGTTTAAATAAACGTCTTTATTACTGGAATGTGAAGAATATTAAATACCTGTTTTAAAAGAATTTTAGCCTCAGCCTGGTATCCTTTGAGAGTTACTAGAAGGTGAACAGTGTTTTGATACAATTATATTTCATGGCCTTAAGAACTTTATTACTGAAGAAGTGATATAGAATTGGTAATCACACTGTAGTGATGGGCCTTAGTTATTCAGTATTGAACATGCTTAGTCC... | GAAGTTGAAGAAGAAAGAAAACAACATTTGAAGGAAATGGGTCAAATGCAGGTTTTGCAAATGAAAAGGTATGCTTTTAAAATAATCTTCAGTTTAAATAAACGTCTTTATTACTGGAATGTGAAGAATATTAAATACCTGTTTTAAAAGAATTTTAGCCTCAGCCTGGTATCCTTTGAGAGTTACTAGAAGGTGAACAGTGTTTTGATACAATTATATTTCATGGCCTTAAGAACTTTATTACTGAAGAAGTGATATAGAATTGGTAATCACACTGTAGTGATGGGCCTTAGTTATTCAGTATTGAACATGCTTAGTCC... | pathogenic | 100,748 |
Regarding the variant found on chromosome 5 at position 132618256 in gene RAD50 (RAD50 double strand break repair protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | AAAAGAATTTTAGCCTCAGCCTGGTATCCTTTGAGAGTTACTAGAAGGTGAACAGTGTTTTGATACAATTATATTTCATGGCCTTAAGAACTTTATTACTGAAGAAGTGATATAGAATTGGTAATCACACTGTAGTGATGGGCCTTAGTTATTCAGTATTGAACATGCTTAGTCCCCATACATCTGCTAGCCTGCTGCACAGAATAGTGGTACTAAGCATAAAGAATATGGAGCTGTGGACCTTGTCTGGGTCAGAGCTTGTACAGTCTATAATATTGTCAATGGAGTTGTTGCCAGAGTGATTTATCCACAGAGATTCA... | AAAAGAATTTTAGCCTCAGCCTGGTATCCTTTGAGAGTTACTAGAAGGTGAACAGTGTTTTGATACAATTATATTTCATGGCCTTAAGAACTTTATTACTGAAGAAGTGATATAGAATTGGTAATCACACTGTAGTGATGGGCCTTAGTTATTCAGTATTGAACATGCTTAGTCCCCATACATCTGCTAGCCTGCTGCACAGAATAGTGGTACTAAGCATAAAGAATATGGAGCTGTGGACCTTGTCTGGGTCAGAGCTTGTACAGTCTATAATATTGTCAATGGAGTTGTTGCCAGAGTGATTTATCCACAGAGATTCA... | pathogenic | 100,767 |
Variant at chromosome 5, position 132637162, gene RAD50: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTTTTCAATTTTAACTGTCATATTCAAGGGCTGTTAATATCCTAGCCACTTTTCTCTGATCTTGAACAAGTCACTGATTTCATTGAATCTTAGTTTTGTTAATGGTAAATAGAGATAACAGTATCTAATTCCCAGTATTGTCGTAAGGATTAAATGAAATTGATTATTTAGCATAGTTTTGTCTCGCATATGGTAAATGGTCATCAATAATAATCATTATTATCATTGTTATTCCCTTATGTAGATTACTGTAGCGACCTTAGTCATCCCCATCTCTTACACAGTACAGCTGTAAATTCCATAGTAGACAGAGAGGATAC... | CTTTTCAATTTTAACTGTCATATTCAAGGGCTGTTAATATCCTAGCCACTTTTCTCTGATCTTGAACAAGTCACTGATTTCATTGAATCTTAGTTTTGTTAATGGTAAATAGAGATAACAGTATCTAATTCCCAGTATTGTCGTAAGGATTAAATGAAATTGATTATTTAGCATAGTTTTGTCTCGCATATGGTAAATGGTCATCAATAATAATCATTATTATCATTGTTATTCCCTTATGTAGATTACTGTAGCGACCTTAGTCATCCCCATCTCTTACACAGTACAGCTGTAAATTCCATAGTAGACAGAGAGGATAC... | pathogenic | 100,780 |
Gene RAD50 variant at chromosome position 132638062 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTTGCTGGTGAACCAGAAGATCACGAAATGATTCTACAGAGGCAGTAGCATTATATTCAGTTTCTTTTTTTGTATGCATCAGATAAGAGGCCTGCAAATGGAAGTAAGTCGCCTCACATCCTCACATCCTTTGTATGATGATCGCAGTAATGTTTGCCTTTTTACCACTGGTGCAACATTTATTAGTTCATAAACCCGCTTCCAAAGAACCTAAGGGCTTTTTGATGAAAGGTGACTGTGGTGGGAACAATGTTAGGTTTTGACAGGCTACTTTTGCTTTTACAAACATTTCTCCTCTTTGTTTTTAGTGTTTAGAAACT... | CTTGCTGGTGAACCAGAAGATCACGAAATGATTCTACAGAGGCAGTAGCATTATATTCAGTTTCTTTTTTTGTATGCATCAGATAAGAGGCCTGCAAATGGAAGTAAGTCGCCTCACATCCTCACATCCTTTGTATGATGATCGCAGTAATGTTTGCCTTTTTACCACTGGTGCAACATTTATTAGTTCATAAACCCGCTTCCAAAGAACCTAAGGGCTTTTTGATGAAAGGTGACTGTGGTGGGAACAATGTTAGGTTTTGACAGGCTACTTTTGCTTTTACAAACATTTCTCCTCTTTGTTTTTAGTGTTTAGAAACT... | benign | 100,791 |
Evaluate if the mutation on chromosome 5 at position 132638080 in RAD50 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | GATCACGAAATGATTCTACAGAGGCAGTAGCATTATATTCAGTTTCTTTTTTTGTATGCATCAGATAAGAGGCCTGCAAATGGAAGTAAGTCGCCTCACATCCTCACATCCTTTGTATGATGATCGCAGTAATGTTTGCCTTTTTACCACTGGTGCAACATTTATTAGTTCATAAACCCGCTTCCAAAGAACCTAAGGGCTTTTTGATGAAAGGTGACTGTGGTGGGAACAATGTTAGGTTTTGACAGGCTACTTTTGCTTTTACAAACATTTCTCCTCTTTGTTTTTAGTGTTTAGAAACTACTACCTTAAAAGAGAGT... | GATCACGAAATGATTCTACAGAGGCAGTAGCATTATATTCAGTTTCTTTTTTTGTATGCATCAGATAAGAGGCCTGCAAATGGAAGTAAGTCGCCTCACATCCTCACATCCTTTGTATGATGATCGCAGTAATGTTTGCCTTTTTACCACTGGTGCAACATTTATTAGTTCATAAACCCGCTTCCAAAGAACCTAAGGGCTTTTTGATGAAAGGTGACTGTGGTGGGAACAATGTTAGGTTTTGACAGGCTACTTTTGCTTTTACAAACATTTCTCCTCTTTGTTTTTAGTGTTTAGAAACTACTACCTTAAAAGAGAGT... | pathogenic | 100,792 |
Is the genetic change at chromosome 5, position 132638093, within gene RAD50 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | TTCTACAGAGGCAGTAGCATTATATTCAGTTTCTTTTTTTGTATGCATCAGATAAGAGGCCTGCAAATGGAAGTAAGTCGCCTCACATCCTCACATCCTTTGTATGATGATCGCAGTAATGTTTGCCTTTTTACCACTGGTGCAACATTTATTAGTTCATAAACCCGCTTCCAAAGAACCTAAGGGCTTTTTGATGAAAGGTGACTGTGGTGGGAACAATGTTAGGTTTTGACAGGCTACTTTTGCTTTTACAAACATTTCTCCTCTTTGTTTTTAGTGTTTAGAAACTACTACCTTAAAAGAGAGTTGAGGACAGGGAC... | TTCTACAGAGGCAGTAGCATTATATTCAGTTTCTTTTTTTGTATGCATCAGATAAGAGGCCTGCAAATGGAAGTAAGTCGCCTCACATCCTCACATCCTTTGTATGATGATCGCAGTAATGTTTGCCTTTTTACCACTGGTGCAACATTTATTAGTTCATAAACCCGCTTCCAAAGAACCTAAGGGCTTTTTGATGAAAGGTGACTGTGGTGGGAACAATGTTAGGTTTTGACAGGCTACTTTTGCTTTTACAAACATTTCTCCTCTTTGTTTTTAGTGTTTAGAAACTACTACCTTAAAAGAGAGTTGAGGACAGGGAC... | pathogenic | 100,795 |
Is the genetic change at chromosome 5, position 132638127, within gene RAD50 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTTTTTGTATGCATCAGATAAGAGGCCTGCAAATGGAAGTAAGTCGCCTCACATCCTCACATCCTTTGTATGATGATCGCAGTAATGTTTGCCTTTTTACCACTGGTGCAACATTTATTAGTTCATAAACCCGCTTCCAAAGAACCTAAGGGCTTTTTGATGAAAGGTGACTGTGGTGGGAACAATGTTAGGTTTTGACAGGCTACTTTTGCTTTTACAAACATTTCTCCTCTTTGTTTTTAGTGTTTAGAAACTACTACCTTAAAAGAGAGTTGAGGACAGGGACATGTCTGGACTAAGTGGAATTTAGTGCTTAGAGT... | TTTTTTGTATGCATCAGATAAGAGGCCTGCAAATGGAAGTAAGTCGCCTCACATCCTCACATCCTTTGTATGATGATCGCAGTAATGTTTGCCTTTTTACCACTGGTGCAACATTTATTAGTTCATAAACCCGCTTCCAAAGAACCTAAGGGCTTTTTGATGAAAGGTGACTGTGGTGGGAACAATGTTAGGTTTTGACAGGCTACTTTTGCTTTTACAAACATTTCTCCTCTTTGTTTTTAGTGTTTAGAAACTACTACCTTAAAAGAGAGTTGAGGACAGGGACATGTCTGGACTAAGTGGAATTTAGTGCTTAGAGT... | pathogenic | 100,801 |
Evaluate the clinical significance of the mutation at chromosome 5, position 132638214 in gene RAD50: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | TTTGCCTTTTTACCACTGGTGCAACATTTATTAGTTCATAAACCCGCTTCCAAAGAACCTAAGGGCTTTTTGATGAAAGGTGACTGTGGTGGGAACAATGTTAGGTTTTGACAGGCTACTTTTGCTTTTACAAACATTTCTCCTCTTTGTTTTTAGTGTTTAGAAACTACTACCTTAAAAGAGAGTTGAGGACAGGGACATGTCTGGACTAAGTGGAATTTAGTGCTTAGAGTTAGGATTTGGAATATAAATATGGAAGTTAATATTTAGAATTAGGATTTCTGAATCTGTGAAGGAAAGGTAAAATAAAATTTTGATGT... | TTTGCCTTTTTACCACTGGTGCAACATTTATTAGTTCATAAACCCGCTTCCAAAGAACCTAAGGGCTTTTTGATGAAAGGTGACTGTGGTGGGAACAATGTTAGGTTTTGACAGGCTACTTTTGCTTTTACAAACATTTCTCCTCTTTGTTTTTAGTGTTTAGAAACTACTACCTTAAAAGAGAGTTGAGGACAGGGACATGTCTGGACTAAGTGGAATTTAGTGCTTAGAGTTAGGATTTGGAATATAAATATGGAAGTTAATATTTAGAATTAGGATTTCTGAATCTGTGAAGGAAAGGTAAAATAAAATTTTGATGT... | pathogenic | 100,818 |
Benign or pathogenic: chromosome 5, position 132640661, gene RAD50 variant? Disease(s) if pathogenic? | benign | ATCAATGACATAATAGTATTGCAAACCAGATTCTAGCTTAAGCTAGAATGAATATTCCAGTATAGTAAGGAGTCTCATTAAGAAAGTAGCCCCTCATAGAACTAAGTCCCTACCACAGCATACACAAAGACTTAGCTGCTGGGTCAGGCCATCTGGCTTCAGGTAAGGCTCTGTGAGGACAGCCTACATTGGAAATCAGGAAGAGGAATGAAGTTTTAAAGAATCAGGAATATGGCATCCTTGGGGAACAAGGCTGGATCCTTCACTGTGCACAGGTTTGTAACAAAGATGTCACAGATACTTGAGCTTTCTGCTTTCAG... | ATCAATGACATAATAGTATTGCAAACCAGATTCTAGCTTAAGCTAGAATGAATATTCCAGTATAGTAAGGAGTCTCATTAAGAAAGTAGCCCCTCATAGAACTAAGTCCCTACCACAGCATACACAAAGACTTAGCTGCTGGGTCAGGCCATCTGGCTTCAGGTAAGGCTCTGTGAGGACAGCCTACATTGGAAATCAGGAAGAGGAATGAAGTTTTAAAGAATCAGGAATATGGCATCCTTGGGGAACAAGGCTGGATCCTTCACTGTGCACAGGTTTGTAACAAAGATGTCACAGATACTTGAGCTTTCTGCTTTCAG... | benign | 100,820 |
Is the variant located on chromosome 5 at position 132640699, gene RAD50, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TAAGCTAGAATGAATATTCCAGTATAGTAAGGAGTCTCATTAAGAAAGTAGCCCCTCATAGAACTAAGTCCCTACCACAGCATACACAAAGACTTAGCTGCTGGGTCAGGCCATCTGGCTTCAGGTAAGGCTCTGTGAGGACAGCCTACATTGGAAATCAGGAAGAGGAATGAAGTTTTAAAGAATCAGGAATATGGCATCCTTGGGGAACAAGGCTGGATCCTTCACTGTGCACAGGTTTGTAACAAAGATGTCACAGATACTTGAGCTTTCTGCTTTCAGATCAAGGCAGAAGATTACACTTGATAACACCTCTAGGC... | TAAGCTAGAATGAATATTCCAGTATAGTAAGGAGTCTCATTAAGAAAGTAGCCCCTCATAGAACTAAGTCCCTACCACAGCATACACAAAGACTTAGCTGCTGGGTCAGGCCATCTGGCTTCAGGTAAGGCTCTGTGAGGACAGCCTACATTGGAAATCAGGAAGAGGAATGAAGTTTTAAAGAATCAGGAATATGGCATCCTTGGGGAACAAGGCTGGATCCTTCACTGTGCACAGGTTTGTAACAAAGATGTCACAGATACTTGAGCTTTCTGCTTTCAGATCAAGGCAGAAGATTACACTTGATAACACCTCTAGGC... | pathogenic | 100,824 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 132640811, gene RAD50. What disease(s) is it linked to if pathogenic? | benign | ATCTGGCTTCAGGTAAGGCTCTGTGAGGACAGCCTACATTGGAAATCAGGAAGAGGAATGAAGTTTTAAAGAATCAGGAATATGGCATCCTTGGGGAACAAGGCTGGATCCTTCACTGTGCACAGGTTTGTAACAAAGATGTCACAGATACTTGAGCTTTCTGCTTTCAGATCAAGGCAGAAGATTACACTTGATAACACCTCTAGGCCCTTGACTTTTTTTAAATAAAATTCTAAAATCATAGAAATAGATGCTTACATTATCTAACTCATTTTCATAGTTTGCAGTTTTTGCTTAAAGAACATGCCATGCAGCTGGGC... | ATCTGGCTTCAGGTAAGGCTCTGTGAGGACAGCCTACATTGGAAATCAGGAAGAGGAATGAAGTTTTAAAGAATCAGGAATATGGCATCCTTGGGGAACAAGGCTGGATCCTTCACTGTGCACAGGTTTGTAACAAAGATGTCACAGATACTTGAGCTTTCTGCTTTCAGATCAAGGCAGAAGATTACACTTGATAACACCTCTAGGCCCTTGACTTTTTTTAAATAAAATTCTAAAATCATAGAAATAGATGCTTACATTATCTAACTCATTTTCATAGTTTGCAGTTTTTGCTTAAAGAACATGCCATGCAGCTGGGC... | benign | 100,839 |
The genetic variant at chromosome 5, position 132642203, affecting gene RAD50: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | CTTTGACCTAGGATTTTCTTTTTTATTCTCTCAGTCTCAGGATTATACACAAGAATATGGAAATTTAAAGGTAGCAGAGAAAAAGTGAGAGGCTCTAGAAAACGTGTCGAAGTTTTCTAACAGATCCCATTATCAGGCAAATAGCCAGGTCAAGAATTTTTAAGGTTGCTCATCTTACAGGATTATTAAAATTACAGATAAATGGCATTGTCTCTGTTTCTAGCCTTTGGTCTCAAGTTGGTTGTAGCTGATGTAATTTTTTATGTGAGAGCATCAGCGTTGTTCTGAGCATTTTGTTTTGTGGTGAATGATAGGCTGAG... | CTTTGACCTAGGATTTTCTTTTTTATTCTCTCAGTCTCAGGATTATACACAAGAATATGGAAATTTAAAGGTAGCAGAGAAAAAGTGAGAGGCTCTAGAAAACGTGTCGAAGTTTTCTAACAGATCCCATTATCAGGCAAATAGCCAGGTCAAGAATTTTTAAGGTTGCTCATCTTACAGGATTATTAAAATTACAGATAAATGGCATTGTCTCTGTTTCTAGCCTTTGGTCTCAAGTTGGTTGTAGCTGATGTAATTTTTTATGTGAGAGCATCAGCGTTGTTCTGAGCATTTTGTTTTGTGGTGAATGATAGGCTGAG... | pathogenic | 100,843 |
Is the genetic variant on chromosome 5, position 132642203, gene RAD50, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTTTGACCTAGGATTTTCTTTTTTATTCTCTCAGTCTCAGGATTATACACAAGAATATGGAAATTTAAAGGTAGCAGAGAAAAAGTGAGAGGCTCTAGAAAACGTGTCGAAGTTTTCTAACAGATCCCATTATCAGGCAAATAGCCAGGTCAAGAATTTTTAAGGTTGCTCATCTTACAGGATTATTAAAATTACAGATAAATGGCATTGTCTCTGTTTCTAGCCTTTGGTCTCAAGTTGGTTGTAGCTGATGTAATTTTTTATGTGAGAGCATCAGCGTTGTTCTGAGCATTTTGTTTTGTGGTGAATGATAGGCTGAG... | CTTTGACCTAGGATTTTCTTTTTTATTCTCTCAGTCTCAGGATTATACACAAGAATATGGAAATTTAAAGGTAGCAGAGAAAAAGTGAGAGGCTCTAGAAAACGTGTCGAAGTTTTCTAACAGATCCCATTATCAGGCAAATAGCCAGGTCAAGAATTTTTAAGGTTGCTCATCTTACAGGATTATTAAAATTACAGATAAATGGCATTGTCTCTGTTTCTAGCCTTTGGTCTCAAGTTGGTTGTAGCTGATGTAATTTTTTATGTGAGAGCATCAGCGTTGTTCTGAGCATTTTGTTTTGTGGTGAATGATAGGCTGAG... | pathogenic | 100,844 |
Does the chromosome 5 mutation at position 132898460 within gene AFF4 (ALF transcription elongation factor 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CCCCCTTGGGCGGCTCTGTTTCTTTGTAAGGCTTTCCTGGTATTCTAGTCAAAAGATTCAGGTCAATCTTCACAATAAGTGGGTACCTGTCATCAGGCTCACTGAGGGGTGAAAGAAGTTCCTTCTCTTCCATAGGAGAGAACATTCGTTGCCGAAAAAAGCTATCTTCTTCCTCCACTGAGGAGGGTTTAACAGGAGTCCTATTGCTCTCGGGGTACTTAGGAGTTTGTGAGGAAGGAGGAAGGCTCTCACTTTCATCTGAATCTGAGGATGAGGTATCTGTTTCTATGATTTCCCTTGATTTCTGGGAAGATTTACTT... | CCCCCTTGGGCGGCTCTGTTTCTTTGTAAGGCTTTCCTGGTATTCTAGTCAAAAGATTCAGGTCAATCTTCACAATAAGTGGGTACCTGTCATCAGGCTCACTGAGGGGTGAAAGAAGTTCCTTCTCTTCCATAGGAGAGAACATTCGTTGCCGAAAAAAGCTATCTTCTTCCTCCACTGAGGAGGGTTTAACAGGAGTCCTATTGCTCTCGGGGTACTTAGGAGTTTGTGAGGAAGGAGGAAGGCTCTCACTTTCATCTGAATCTGAGGATGAGGTATCTGTTTCTATGATTTCCCTTGATTTCTGGGAAGATTTACTT... | benign | 100,888 |
Does the chromosome 5 mutation at position 132898490 within gene AFF4 (ALF transcription elongation factor 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCTTTCCTGGTATTCTAGTCAAAAGATTCAGGTCAATCTTCACAATAAGTGGGTACCTGTCATCAGGCTCACTGAGGGGTGAAAGAAGTTCCTTCTCTTCCATAGGAGAGAACATTCGTTGCCGAAAAAAGCTATCTTCTTCCTCCACTGAGGAGGGTTTAACAGGAGTCCTATTGCTCTCGGGGTACTTAGGAGTTTGTGAGGAAGGAGGAAGGCTCTCACTTTCATCTGAATCTGAGGATGAGGTATCTGTTTCTATGATTTCCCTTGATTTCTGGGAAGATTTACTTGTTGACTTATATTTCTTTTTCTCTGCTGTA... | GCTTTCCTGGTATTCTAGTCAAAAGATTCAGGTCAATCTTCACAATAAGTGGGTACCTGTCATCAGGCTCACTGAGGGGTGAAAGAAGTTCCTTCTCTTCCATAGGAGAGAACATTCGTTGCCGAAAAAAGCTATCTTCTTCCTCCACTGAGGAGGGTTTAACAGGAGTCCTATTGCTCTCGGGGTACTTAGGAGTTTGTGAGGAAGGAGGAAGGCTCTCACTTTCATCTGAATCTGAGGATGAGGTATCTGTTTCTATGATTTCCCTTGATTTCTGGGAAGATTTACTTGTTGACTTATATTTCTTTTTCTCTGCTGTA... | benign | 100,889 |
Is the genetic mutation found on chromosome 5 at position 132932158, within the gene AFF4 (ALF transcription elongation factor 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTGAGTCTGAAGAGGCAAAGAGAAATAAATCCAAATGGAAACTCAGCTAAGAAGCAATTAAGAGACAAACCAAAACCCAAAGGCCAGTGTAGGACAGAAAGACTAAATAGCTGTCTAAGAGATAAAGCCAAGAATGGTGGAAAAGGCAAGTCAAAGAGCAGAGGCTAGAAGAATGCACCTGCACTTAAGAAACAAGAGAAGGCACAAGGGTTCCAAAAAGGGCAAAGAAAGAGAGGCAAGAAAGGTGGAAGGCAAATAAAAACAATGAAGCATAAAAACAGTCAAGGAAAGAAGAATGTTTGCAGAAGGAAAAAATACAT... | TTGAGTCTGAAGAGGCAAAGAGAAATAAATCCAAATGGAAACTCAGCTAAGAAGCAATTAAGAGACAAACCAAAACCCAAAGGCCAGTGTAGGACAGAAAGACTAAATAGCTGTCTAAGAGATAAAGCCAAGAATGGTGGAAAAGGCAAGTCAAAGAGCAGAGGCTAGAAGAATGCACCTGCACTTAAGAAACAAGAGAAGGCACAAGGGTTCCAAAAAGGGCAAAGAAAGAGAGGCAAGAAAGGTGGAAGGCAAATAAAAACAATGAAGCATAAAAACAGTCAAGGAAAGAAGAATGTTTGCAGAAGGAAAAAATACAT... | benign | 100,893 |
Assess the variant on chromosome 5, position 132934948, impacting AFF4 (ALF transcription elongation factor 4): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GTTCTCTTGAGAGGAGTAATCAGATAACAAATGCCACTCAAAATGAGTTTCCCAAGGCCACTGGAAAGATGTTTTAAATGTTTGCAAAACAGCATTTTACATTACGCAGATTCTTCCTTCCACCATTTTGAGCTAAGAGTTGTAATTTTTTGGCTACTGACGTCACTTTCCAAATTTTTTTTTATTGCACAAACTACATTAAAAGATAAAATTTGGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGCGAGGCCGAGGCGGGCGGATCACGTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTG... | GTTCTCTTGAGAGGAGTAATCAGATAACAAATGCCACTCAAAATGAGTTTCCCAAGGCCACTGGAAAGATGTTTTAAATGTTTGCAAAACAGCATTTTACATTACGCAGATTCTTCCTTCCACCATTTTGAGCTAAGAGTTGTAATTTTTTGGCTACTGACGTCACTTTCCAAATTTTTTTTTATTGCACAAACTACATTAAAAGATAAAATTTGGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGCGAGGCCGAGGCGGGCGGATCACGTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTG... | benign | 100,906 |
A genetic variant at chromosome 5, position 134608353, affecting gene SAR1B (secretion associated Ras related GTPase 1B)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TAAATATTCTGAAGGAATCTCCTTTCCCAACAACCACTTCATATGCCTAATATTAAATACTCAAATTTTCAGAGTATACTAGCTAGATAAGACACATTTAAATGAAACATTTGCCCAACAAGGATGCCAAACATTAGAGTTTGTTTTATTGCATGACGTTTGCATAAGAAAAAAAGTTATTGAAAACTGTAAGGCATCATGCAATCATTGAATAAGCTAATTATTAACTGTACACTTAAGATAGGTGGACATATAATCTAAAATTTAAAAACTAGTTCCAGAAAAGTACATAAAAAATTTAACATGATGAGCTTTTAAAT... | TAAATATTCTGAAGGAATCTCCTTTCCCAACAACCACTTCATATGCCTAATATTAAATACTCAAATTTTCAGAGTATACTAGCTAGATAAGACACATTTAAATGAAACATTTGCCCAACAAGGATGCCAAACATTAGAGTTTGTTTTATTGCATGACGTTTGCATAAGAAAAAAAGTTATTGAAAACTGTAAGGCATCATGCAATCATTGAATAAGCTAATTATTAACTGTACACTTAAGATAGGTGGACATATAATCTAAAATTTAAAAACTAGTTCCAGAAAAGTACATAAAAAATTTAACATGATGAGCTTTTAAAT... | benign | 100,925 |
For chromosome 5, position 134609582, gene SAR1B (secretion associated Ras related GTPase 1B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Chylomicron_retention_disease', 'Inborn_genetic_diseases'] | AGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGACTGACCAACATGGAGAAACCCCGTCTCTACCAAAAATACAAAATTAGCTGGGCGTGCTGGCACACGCCTGTAATCCCAGCTACCAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCGAGATTGCACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAGAGCCTCCTGCTATATGCTGCAGTATTTCTCCACCCTGAAATAGTATATGTAAACTAAAAAAATTT... | AGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGACTGACCAACATGGAGAAACCCCGTCTCTACCAAAAATACAAAATTAGCTGGGCGTGCTGGCACACGCCTGTAATCCCAGCTACCAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCGAGATTGCACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAGAGCCTCCTGCTATATGCTGCAGTATTTCTCCACCCTGAAATAGTATATGTAAACTAAAAAAATTT... | pathogenic | 100,928 |
Does the variant impacting SAR1B (secretion associated Ras related GTPase 1B) on chromosome 5, position 134612737, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | ATGCCACTGCACTCCAGCCTGGGAGACAGAACCAGACTCTGTTTCAAAAAAAATAATTAAAAAAAAACCAAAACAAAATTGTTTTACTCAGAAAAGAAGCTCAAATGTTAATAATTAACTGAAGTCTATGAAATCATAAGAGTAATTTTTTCCATAACATAACTTTCTTCACTGACTTGAGTTTTATGACATACCTTTTTTTTTTTTTTTTAAAGAGACAGGGTCTTGCTCTGTCATCCAGGCTAGTTCACTGCAACCTCAGACTCTTGAGCTCAAGTCATAGTCCCATCTCAGCCTCCTGAGTAGGTAGGACTATCAGT... | ATGCCACTGCACTCCAGCCTGGGAGACAGAACCAGACTCTGTTTCAAAAAAAATAATTAAAAAAAAACCAAAACAAAATTGTTTTACTCAGAAAAGAAGCTCAAATGTTAATAATTAACTGAAGTCTATGAAATCATAAGAGTAATTTTTTCCATAACATAACTTTCTTCACTGACTTGAGTTTTATGACATACCTTTTTTTTTTTTTTTTAAAGAGACAGGGTCTTGCTCTGTCATCCAGGCTAGTTCACTGCAACCTCAGACTCTTGAGCTCAAGTCATAGTCCCATCTCAGCCTCCTGAGTAGGTAGGACTATCAGT... | pathogenic | 100,932 |
Is the genetic change at chromosome 5, position 134621026, within gene SAR1B (secretion associated Ras related GTPase 1B) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases'] | ACAGAGTGAGACTCTGTCTCAAAAAAGGAAAAAAAAAAAATTAGAGTCATTATTAAAAAACATTATTTTTGGCCAAGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGTGGGCGGATCATCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATACAAAACATTAGCTGGGTGTGGTAGCACATGCCTGTAATCTGAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCTC... | ACAGAGTGAGACTCTGTCTCAAAAAAGGAAAAAAAAAAAATTAGAGTCATTATTAAAAAACATTATTTTTGGCCAAGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGTGGGCGGATCATCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATACAAAACATTAGCTGGGTGTGGTAGCACATGCCTGTAATCTGAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGAAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCTC... | pathogenic | 100,934 |
Mutation found at chromosome 5 position 138566991, gene HSPA9 (heat shock protein family A (Hsp70) member 9): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TTTGTATCACTTCTAGTTTAACGTTTACTAATCTGTTCTAATTAATGTCCATCTTTCCAAACCACAATATAATCTGCATGAGGGTAATAAACGCTAAGAATTTATTCTATAGATTTAAAATCACCTATGCAAAACTGAATGTGTAAGGATGCTCAATACATCTTGCTATAATAAACACTGGAAAACAATCAAAATGTCTATCAATAGGATGCAGCCACACTAATTAAAACCAACCAATCTCTTCCAACACCTCGCATCCCCTACCCCAAATGTCAAATCCCTGGGAAGAATTATCTTCTGGCAGTGCCAGGTATTTCAAC... | TTTGTATCACTTCTAGTTTAACGTTTACTAATCTGTTCTAATTAATGTCCATCTTTCCAAACCACAATATAATCTGCATGAGGGTAATAAACGCTAAGAATTTATTCTATAGATTTAAAATCACCTATGCAAAACTGAATGTGTAAGGATGCTCAATACATCTTGCTATAATAAACACTGGAAAACAATCAAAATGTCTATCAATAGGATGCAGCCACACTAATTAAAACCAACCAATCTCTTCCAACACCTCGCATCCCCTACCCCAAATGTCAAATCCCTGGGAAGAATTATCTTCTGGCAGTGCCAGGTATTTCAAC... | benign | 101,035 |
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