question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
A genetic variant at chromosome 13, position 36827780, affecting gene RFXAP (regulatory factor X associated protein)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | ACAAAATCACAGAGAAAAGATTATAAACTTGACTACATAAAAATGAATGCTATAGTCAAAAATGGTGGCAAATTGCACAATGACCTAGAGCAAAAATATGTACAACAAATATAAAAGACTATGGTTAACGTGTCTGGTATTTTATCACATAAAATATTCCTGGTTGGGCATTGTGGTTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAGGTGGGAGGATCACTTGAGGCTGGGAATTTGAGACCATTCTGGGCAACGTAGCGAGACCCCATCTACAAAAAAATTTAAAAATTAGCCGAGTGTGATGGTATGTAGCTGT... | ACAAAATCACAGAGAAAAGATTATAAACTTGACTACATAAAAATGAATGCTATAGTCAAAAATGGTGGCAAATTGCACAATGACCTAGAGCAAAAATATGTACAACAAATATAAAAGACTATGGTTAACGTGTCTGGTATTTTATCACATAAAATATTCCTGGTTGGGCATTGTGGTTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAGGTGGGAGGATCACTTGAGGCTGGGAATTTGAGACCATTCTGGGCAACGTAGCGAGACCCCATCTACAAAAAAATTTAAAAATTAGCCGAGTGTGATGGTATGTAGCTGT... | benign | 214,157 |
Does the chromosome 13 mutation at position 38688091 within gene FREM2 (FRAS1 related extracellular matrix 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Fraser_syndrome_2'] | GAATCTACACACTACTAAAACCAAACAAACACAAGGGGGCAGGAAGAGCTCAAGCTCTGACTTCAAAACCTGTTGGCTGAAATGAGAGCTAAACTATTTTAGTGTGCCCTCCGGATATTTATCAATTTTCGTGGCATGCAAAGAAATGTGATGCTGACAAGTAGATTTAGTTTGTGCTTGGTCTAATTACTGCGAAGAGAACAGGAACGTCTCTAATGACAGCTACCCTAACAGAGTCGGATTTGGGAGCGCCTGGGGCCACATTCCCTAGAATTTATTCTTTGGTGCAAGACTAGCAATTCTGATCAGACTGCATTTCT... | GAATCTACACACTACTAAAACCAAACAAACACAAGGGGGCAGGAAGAGCTCAAGCTCTGACTTCAAAACCTGTTGGCTGAAATGAGAGCTAAACTATTTTAGTGTGCCCTCCGGATATTTATCAATTTTCGTGGCATGCAAAGAAATGTGATGCTGACAAGTAGATTTAGTTTGTGCTTGGTCTAATTACTGCGAAGAGAACAGGAACGTCTCTAATGACAGCTACCCTAACAGAGTCGGATTTGGGAGCGCCTGGGGCCACATTCCCTAGAATTTATTCTTTGGTGCAAGACTAGCAATTCTGATCAGACTGCATTTCT... | pathogenic | 214,221 |
Is the genetic variant on chromosome 13, position 38690175, gene FREM2 (FRAS1 related extracellular matrix 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Fraser_syndrome_1', 'Fraser_syndrome_2', 'Isolated_cryptophthalmia'] | ACTAGGCGTGCGCTATCGCCACACAGCCGCCAGTCGCTCACCAAACAGGGACTGGATACCCATGGTGGTGGAGCTGCGTTCACGAGGGGCTCCTGTGGGCAGCCCTGCTTTGAAACGCGAGCACTTCCAGGTTCTGGTGAGGATCCGAGGAGGGGCCGAGAACACTGCACCCAAGCCCAGTTTCGTGGCCATGATGATGATGGAGGTGGACCAGTTTGTACTGACGGCCCTGACCCCAGACATGCTGGCAGCCGAGGATGCTGAGTCTCCCTCTGACCTGTTGATCTTCAACCTTACTTCTCCATTCCAGCCTGGCCAGG... | ACTAGGCGTGCGCTATCGCCACACAGCCGCCAGTCGCTCACCAAACAGGGACTGGATACCCATGGTGGTGGAGCTGCGTTCACGAGGGGCTCCTGTGGGCAGCCCTGCTTTGAAACGCGAGCACTTCCAGGTTCTGGTGAGGATCCGAGGAGGGGCCGAGAACACTGCACCCAAGCCCAGTTTCGTGGCCATGATGATGATGGAGGTGGACCAGTTTGTACTGACGGCCCTGACCCCAGACATGCTGGCAGCCGAGGATGCTGAGTCTCCCTCTGACCTGTTGATCTTCAACCTTACTTCTCCATTCCAGCCTGGCCAGG... | pathogenic | 214,238 |
Gene mutation in FREM2 (FRAS1 related extracellular matrix 2) at chromosome 13, position 38690640—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['FREM2-related_disorder', 'Fraser_syndrome_2'] | TCTAGAAGGAGCAGCTTCAGACCCTTTTGCCTTCATGGTAGTGGTGAAGCCCATGAACACAATGGCTCCGGTGGTCACCCGGAATACCGGTCTTATTCTCTATGAGGGTCAGTCTCGGCCCCTCACAGGCCCTGCAGGCAGTGGTCCGCAAAACTTGGTCATCAGCGATGAGGATGACCTAGAAGCAGTGCGGCTAGAGGTGGTGGCTGGGCTCCGGCATGGTCACCTTGTCATTCTGGGTGCTTCCAGTGGCAGCTCTGCTCCCAAGAGCTTTACAGTGGCTGAGCTGGCAGCCGGCCAGGTGGTCTACCAGCATGATG... | TCTAGAAGGAGCAGCTTCAGACCCTTTTGCCTTCATGGTAGTGGTGAAGCCCATGAACACAATGGCTCCGGTGGTCACCCGGAATACCGGTCTTATTCTCTATGAGGGTCAGTCTCGGCCCCTCACAGGCCCTGCAGGCAGTGGTCCGCAAAACTTGGTCATCAGCGATGAGGATGACCTAGAAGCAGTGCGGCTAGAGGTGGTGGCTGGGCTCCGGCATGGTCACCTTGTCATTCTGGGTGCTTCCAGTGGCAGCTCTGCTCCCAAGAGCTTTACAGTGGCTGAGCTGGCAGCCGGCCAGGTGGTCTACCAGCATGATG... | pathogenic | 214,243 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 38690912, gene FREM2 (FRAS1 related extracellular matrix 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Fraser_syndrome_2', 'Isolated_cryptophthalmia'] | TTACAGTGGCTGAGCTGGCAGCCGGCCAGGTGGTCTACCAGCATGATGACAGAGACGGCTCGCTGAGCGACAACCTGGTGCTTCGCATGGTGGATGGAGGAGGCAGGCACCAGGTACAGTTTCTGTTCCCCATCACCTTAGTGCCTGTGGATGACCAGCCACCTGTTCTCAATGCCAACACGGGGCTGACACTGGCAGAGGGTGAAACAGTGCCCATCCTGCCCCTTTCCCTGAGTGCAACTGACATGGATTCAGATGATTCTCTGCTGCTTTTTGTGCTGGAGTCACCCTTCTTAACTACGGGGCATCTGCTTCTCCGC... | TTACAGTGGCTGAGCTGGCAGCCGGCCAGGTGGTCTACCAGCATGATGACAGAGACGGCTCGCTGAGCGACAACCTGGTGCTTCGCATGGTGGATGGAGGAGGCAGGCACCAGGTACAGTTTCTGTTCCCCATCACCTTAGTGCCTGTGGATGACCAGCCACCTGTTCTCAATGCCAACACGGGGCTGACACTGGCAGAGGGTGAAACAGTGCCCATCCTGCCCCTTTCCCTGAGTGCAACTGACATGGATTCAGATGATTCTCTGCTGCTTTTTGTGCTGGAGTCACCCTTCTTAACTACGGGGCATCTGCTTCTCCGC... | pathogenic | 214,244 |
Evaluate the clinical significance of the mutation at chromosome 13, position 38692505 in gene FREM2 (FRAS1 related extracellular matrix 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Fraser_syndrome_2', 'Isolated_cryptophthalmia'] | ATATGTCTCAAGAATGGAGAATTGGTGGCAATACTATCCAAGGAGTTACTATATGGGTGACCATCCTGCCTGTTGATAGCCAGGCCCCAGAAATCTTTGTAGGTGAACAGTTGATAGTAATGGAAGGTGATAAAAGTGTTATAACATCAGTGCATATAAGTGCTGAAGATGTCGACTCCCTGAATGATGACATCTTGTGCACTATAGTTATTCAGCCTACTTCAGGTTATGTTGAAAACATTTCTCCAGCACCAGGCTCTGAGAAATCAAGAGCAGGGATTGCCATAAGTGCTTTCAACTTGAAAGATCTCAGGCAGGGC... | ATATGTCTCAAGAATGGAGAATTGGTGGCAATACTATCCAAGGAGTTACTATATGGGTGACCATCCTGCCTGTTGATAGCCAGGCCCCAGAAATCTTTGTAGGTGAACAGTTGATAGTAATGGAAGGTGATAAAAGTGTTATAACATCAGTGCATATAAGTGCTGAAGATGTCGACTCCCTGAATGATGACATCTTGTGCACTATAGTTATTCAGCCTACTTCAGGTTATGTTGAAAACATTTCTCCAGCACCAGGCTCTGAGAAATCAAGAGCAGGGATTGCCATAAGTGCTTTCAACTTGAAAGATCTCAGGCAGGGC... | pathogenic | 214,262 |
Mutation at chromosome 13, position 38784742, within FREM2 (FRAS1 related extracellular matrix 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Fraser_syndrome_2', 'Isolated_cryptophthalmia'] | GACAAGATGACTTTTGAGGTCATTTCCACCTCTCAAGTGGTGCTCCATTGGAAGGTGTTAATGTGTGCCAAGAGAACAAAGTTAGATTTATAAAAACTGTGTCAGCATGACTTATTTATTTAGAAGAAAGCAATTACTAGAGATATAAGCCATGTTGGGTTTTGTTTTTAGATTTCAGAATTCACTGGCCCAGAGCCTATTCCCTTTATACCCACTTCTTTTCCCCTCTCCTTCCTCCTTTTCCTCCCACTATGTTATTCTAAAGAATATTCAAGGGGGAAAAATCAATCATTAGAGAAATTTTAATTCTGTATGATTGT... | GACAAGATGACTTTTGAGGTCATTTCCACCTCTCAAGTGGTGCTCCATTGGAAGGTGTTAATGTGTGCCAAGAGAACAAAGTTAGATTTATAAAAACTGTGTCAGCATGACTTATTTATTTAGAAGAAAGCAATTACTAGAGATATAAGCCATGTTGGGTTTTGTTTTTAGATTTCAGAATTCACTGGCCCAGAGCCTATTCCCTTTATACCCACTTCTTTTCCCCTCTCCTTCCTCCTTTTCCTCCCACTATGTTATTCTAAAGAATATTCAAGGGGGAAAAATCAATCATTAGAGAAATTTTAATTCTGTATGATTGT... | pathogenic | 214,275 |
Evaluate this variant at chromosome 13, position 38784770, gene FREM2 (FRAS1 related extracellular matrix 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Fraser_syndrome_2', 'Isolated_cryptophthalmia'] | CCTCTCAAGTGGTGCTCCATTGGAAGGTGTTAATGTGTGCCAAGAGAACAAAGTTAGATTTATAAAAACTGTGTCAGCATGACTTATTTATTTAGAAGAAAGCAATTACTAGAGATATAAGCCATGTTGGGTTTTGTTTTTAGATTTCAGAATTCACTGGCCCAGAGCCTATTCCCTTTATACCCACTTCTTTTCCCCTCTCCTTCCTCCTTTTCCTCCCACTATGTTATTCTAAAGAATATTCAAGGGGGAAAAATCAATCATTAGAGAAATTTTAATTCTGTATGATTGTTTCAGAGGTAAGAAGCTCAGACAAAAAT... | CCTCTCAAGTGGTGCTCCATTGGAAGGTGTTAATGTGTGCCAAGAGAACAAAGTTAGATTTATAAAAACTGTGTCAGCATGACTTATTTATTTAGAAGAAAGCAATTACTAGAGATATAAGCCATGTTGGGTTTTGTTTTTAGATTTCAGAATTCACTGGCCCAGAGCCTATTCCCTTTATACCCACTTCTTTTCCCCTCTCCTTCCTCCTTTTCCTCCCACTATGTTATTCTAAAGAATATTCAAGGGGGAAAAATCAATCATTAGAGAAATTTTAATTCTGTATGATTGTTTCAGAGGTAAGAAGCTCAGACAAAAAT... | pathogenic | 214,276 |
Evaluate this variant at chromosome 13, position 38848638, gene FREM2 (FRAS1 related extracellular matrix 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Fraser_syndrome_1'] | GGTGATGTGGAATACTCTGTGGATGAGAGTGCTGGCTATGTGGAAGTGCAGGTGTGGAGAACGGGCACTGACCTGTCCAAGTCTTCTAGTGTCACAGTGAGGTCTCGGAAAACAGATCCTCCCTCTGCAGATGGTGAGCAGTTTCCCACTCGGCTCTTTTGATTGTTCTGCAATTTTCAATGACCATGGCACAAATTTATTTAAAGCTGAAATACTTCACTTCTATTAAAGCAGTTGGCTGGGTATATTGTTTTTGCTGAAATTATTACTCTAGGAGGTAAATCTAGGCTTTATTTACTACTTTGGGAAAGTACATTTAA... | GGTGATGTGGAATACTCTGTGGATGAGAGTGCTGGCTATGTGGAAGTGCAGGTGTGGAGAACGGGCACTGACCTGTCCAAGTCTTCTAGTGTCACAGTGAGGTCTCGGAAAACAGATCCTCCCTCTGCAGATGGTGAGCAGTTTCCCACTCGGCTCTTTTGATTGTTCTGCAATTTTCAATGACCATGGCACAAATTTATTTAAAGCTGAAATACTTCACTTCTATTAAAGCAGTTGGCTGGGTATATTGTTTTTGCTGAAATTATTACTCTAGGAGGTAAATCTAGGCTTTATTTACTACTTTGGGAAAGTACATTTAA... | pathogenic | 214,286 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 38859547, gene FREM2 (FRAS1 related extracellular matrix 2): what disease(s) if pathogenic? | pathogenic; ['Fraser_syndrome_2', 'Isolated_cryptophthalmia'] | TTACTCCCACTGTCAAAGAATTGACTCCTTCATAAAATTTCCCTTCACAACCCCAAGACACATTTAGCTACTGTCATCACAACTGGAGAAAAAAAAATAAATTAGAGCCCAAACACCTCATGGGCCGCTGGCCAACCTTTGGATTGACTGCCCTGGGCTCAGCTGCCCTCCCTGGAACCATAAGATGTGAACAAGGTGCCAAGGTCATGTGCTGCAGGCCACTTAGGGCCTGTTGCTCTCCAGGGGCTCTGAGTATGACAATTTGCATCATAACGAGGCCATGGGGTTGCCAGGGATCGTGAGTATTGTTCTGTGTGGTA... | TTACTCCCACTGTCAAAGAATTGACTCCTTCATAAAATTTCCCTTCACAACCCCAAGACACATTTAGCTACTGTCATCACAACTGGAGAAAAAAAAATAAATTAGAGCCCAAACACCTCATGGGCCGCTGGCCAACCTTTGGATTGACTGCCCTGGGCTCAGCTGCCCTCCCTGGAACCATAAGATGTGAACAAGGTGCCAAGGTCATGTGCTGCAGGCCACTTAGGGCCTGTTGCTCTCCAGGGGCTCTGAGTATGACAATTTGCATCATAACGAGGCCATGGGGTTGCCAGGGATCGTGAGTATTGTTCTGTGTGGTA... | pathogenic | 214,308 |
A mutation at chromosome position 38861415 on chromosome 13 in gene FREM2 (FRAS1 related extracellular matrix 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GTACCGGTGGCTGATTAGTGCACCTGCGGGCCCTGACGGTGTGACCAGCCCTATGAGAGAAGTGGACTTCGACACCTTTTTTACGTCATCCAAGATGGTCACACTGGACTCCATATACTTTCAGCCTGGCTCCCGGGTACAGTGCGCAGCTCGTGCTGTGAACACCAATGGGGATGAAGGCCTGGAGCTCATGAGCCCTATTGTAACCATCAGCAGAGAAGAAGGTCAGTCATTGCCATTTTCCCCTGAAGATCACTGGAATACTGTGCAATATTACAAATGTCTACTTTCTGGTTATTAATACTTCCAATGTCCCACAT... | GTACCGGTGGCTGATTAGTGCACCTGCGGGCCCTGACGGTGTGACCAGCCCTATGAGAGAAGTGGACTTCGACACCTTTTTTACGTCATCCAAGATGGTCACACTGGACTCCATATACTTTCAGCCTGGCTCCCGGGTACAGTGCGCAGCTCGTGCTGTGAACACCAATGGGGATGAAGGCCTGGAGCTCATGAGCCCTATTGTAACCATCAGCAGAGAAGAAGGTCAGTCATTGCCATTTTCCCCTGAAGATCACTGGAATACTGTGCAATATTACAAATGTCTACTTTCTGGTTATTAATACTTCCAATGTCCCACAT... | benign | 214,313 |
The chromosome 13, position 38861415 genetic variant in gene FREM2 (FRAS1 related extracellular matrix 2): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GTACCGGTGGCTGATTAGTGCACCTGCGGGCCCTGACGGTGTGACCAGCCCTATGAGAGAAGTGGACTTCGACACCTTTTTTACGTCATCCAAGATGGTCACACTGGACTCCATATACTTTCAGCCTGGCTCCCGGGTACAGTGCGCAGCTCGTGCTGTGAACACCAATGGGGATGAAGGCCTGGAGCTCATGAGCCCTATTGTAACCATCAGCAGAGAAGAAGGTCAGTCATTGCCATTTTCCCCTGAAGATCACTGGAATACTGTGCAATATTACAAATGTCTACTTTCTGGTTATTAATACTTCCAATGTCCCACAT... | GTACCGGTGGCTGATTAGTGCACCTGCGGGCCCTGACGGTGTGACCAGCCCTATGAGAGAAGTGGACTTCGACACCTTTTTTACGTCATCCAAGATGGTCACACTGGACTCCATATACTTTCAGCCTGGCTCCCGGGTACAGTGCGCAGCTCGTGCTGTGAACACCAATGGGGATGAAGGCCTGGAGCTCATGAGCCCTATTGTAACCATCAGCAGAGAAGAAGGTCAGTCATTGCCATTTTCCCCTGAAGATCACTGGAATACTGTGCAATATTACAAATGTCTACTTTCTGGTTATTAATACTTCCAATGTCCCACAT... | benign | 214,314 |
Variant chromosome 13, position 38861415, gene FREM2 (FRAS1 related extracellular matrix 2): benign or pathogenic? Disease(s)? | benign | GTACCGGTGGCTGATTAGTGCACCTGCGGGCCCTGACGGTGTGACCAGCCCTATGAGAGAAGTGGACTTCGACACCTTTTTTACGTCATCCAAGATGGTCACACTGGACTCCATATACTTTCAGCCTGGCTCCCGGGTACAGTGCGCAGCTCGTGCTGTGAACACCAATGGGGATGAAGGCCTGGAGCTCATGAGCCCTATTGTAACCATCAGCAGAGAAGAAGGTCAGTCATTGCCATTTTCCCCTGAAGATCACTGGAATACTGTGCAATATTACAAATGTCTACTTTCTGGTTATTAATACTTCCAATGTCCCACAT... | GTACCGGTGGCTGATTAGTGCACCTGCGGGCCCTGACGGTGTGACCAGCCCTATGAGAGAAGTGGACTTCGACACCTTTTTTACGTCATCCAAGATGGTCACACTGGACTCCATATACTTTCAGCCTGGCTCCCGGGTACAGTGCGCAGCTCGTGCTGTGAACACCAATGGGGATGAAGGCCTGGAGCTCATGAGCCCTATTGTAACCATCAGCAGAGAAGAAGGTCAGTCATTGCCATTTTCCCCTGAAGATCACTGGAATACTGTGCAATATTACAAATGTCTACTTTCTGGTTATTAATACTTCCAATGTCCCACAT... | benign | 214,315 |
Evaluate if the mutation on chromosome 13 at position 38861415 in FREM2 (FRAS1 related extracellular matrix 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GTACCGGTGGCTGATTAGTGCACCTGCGGGCCCTGACGGTGTGACCAGCCCTATGAGAGAAGTGGACTTCGACACCTTTTTTACGTCATCCAAGATGGTCACACTGGACTCCATATACTTTCAGCCTGGCTCCCGGGTACAGTGCGCAGCTCGTGCTGTGAACACCAATGGGGATGAAGGCCTGGAGCTCATGAGCCCTATTGTAACCATCAGCAGAGAAGAAGGTCAGTCATTGCCATTTTCCCCTGAAGATCACTGGAATACTGTGCAATATTACAAATGTCTACTTTCTGGTTATTAATACTTCCAATGTCCCACAT... | GTACCGGTGGCTGATTAGTGCACCTGCGGGCCCTGACGGTGTGACCAGCCCTATGAGAGAAGTGGACTTCGACACCTTTTTTACGTCATCCAAGATGGTCACACTGGACTCCATATACTTTCAGCCTGGCTCCCGGGTACAGTGCGCAGCTCGTGCTGTGAACACCAATGGGGATGAAGGCCTGGAGCTCATGAGCCCTATTGTAACCATCAGCAGAGAAGAAGGTCAGTCATTGCCATTTTCCCCTGAAGATCACTGGAATACTGTGCAATATTACAAATGTCTACTTTCTGGTTATTAATACTTCCAATGTCCCACAT... | benign | 214,316 |
Gene FREM2 (FRAS1 related extracellular matrix 2) variant at chromosome 13, position 38861415—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GTACCGGTGGCTGATTAGTGCACCTGCGGGCCCTGACGGTGTGACCAGCCCTATGAGAGAAGTGGACTTCGACACCTTTTTTACGTCATCCAAGATGGTCACACTGGACTCCATATACTTTCAGCCTGGCTCCCGGGTACAGTGCGCAGCTCGTGCTGTGAACACCAATGGGGATGAAGGCCTGGAGCTCATGAGCCCTATTGTAACCATCAGCAGAGAAGAAGGTCAGTCATTGCCATTTTCCCCTGAAGATCACTGGAATACTGTGCAATATTACAAATGTCTACTTTCTGGTTATTAATACTTCCAATGTCCCACAT... | GTACCGGTGGCTGATTAGTGCACCTGCGGGCCCTGACGGTGTGACCAGCCCTATGAGAGAAGTGGACTTCGACACCTTTTTTACGTCATCCAAGATGGTCACACTGGACTCCATATACTTTCAGCCTGGCTCCCGGGTACAGTGCGCAGCTCGTGCTGTGAACACCAATGGGGATGAAGGCCTGGAGCTCATGAGCCCTATTGTAACCATCAGCAGAGAAGAAGGTCAGTCATTGCCATTTTCCCCTGAAGATCACTGGAATACTGTGCAATATTACAAATGTCTACTTTCTGGTTATTAATACTTCCAATGTCCCACAT... | benign | 214,317 |
Gene COG6 (component of oligomeric golgi complex 6) variant at chromosome 13, position 39655705—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AATAAAGATTTTAAAAATTAATATAAATTTGTATTTTTTATTACTTAAACATTTTGTCTATTTATCTCCAATTTACTTTTTAAAATAAACAGCTTTATTTTTTTTTTTTCAATTTTAAGATAGGGCCTTGCTCCATCACCCAGGCTAGAGTAGAGGGCAGTGGCATGATTATGACTTACCGCAGGCTTGAGCTCAAGTGATACTCCCACCTCAACCTTCCAAGTAGCTGGGACCACAGGCATGCCACCACACTCGACTAGTTTTCGTATTTTTTTTTTTTTTTTTGTAGAGACAGGGTCTCGCTATGTTGCCCAGGCTGG... | AATAAAGATTTTAAAAATTAATATAAATTTGTATTTTTTATTACTTAAACATTTTGTCTATTTATCTCCAATTTACTTTTTAAAATAAACAGCTTTATTTTTTTTTTTTCAATTTTAAGATAGGGCCTTGCTCCATCACCCAGGCTAGAGTAGAGGGCAGTGGCATGATTATGACTTACCGCAGGCTTGAGCTCAAGTGATACTCCCACCTCAACCTTCCAAGTAGCTGGGACCACAGGCATGCCACCACACTCGACTAGTTTTCGTATTTTTTTTTTTTTTTTTGTAGAGACAGGGTCTCGCTATGTTGCCCAGGCTGG... | benign | 214,363 |
Considering the genetic mutation at chromosome 13, position 39679539, impacting COG6 (component of oligomeric golgi complex 6): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['COG6-congenital_disorder_of_glycosylation'] | AAGTTGCAGATGCCTTCTTATCCAAGTTCCAACTGACTTCTGATGAAATGAGTCTTCTCCGAGGTACAAGAGAAGGACCCATTACTGAGGTATCCTGGCTTTCTGTTATAATCATTTAAAGTTTAGTAGTTACAGATATTAGAGAGAAATTGCTTTTTTGAAGCTTTATTTTCCCATTAAAAAAAGTTTCATCTGAGAATATTTTTATGTTTGGAAATTTAAGATGTGTATTTTAATTATATTTTTCAAAGTAATACATGTACTTTTTAAAAAGAGTCAAAGTTATAAAAAGAAAATCTATGTCACCTATTTTACTCTTC... | AAGTTGCAGATGCCTTCTTATCCAAGTTCCAACTGACTTCTGATGAAATGAGTCTTCTCCGAGGTACAAGAGAAGGACCCATTACTGAGGTATCCTGGCTTTCTGTTATAATCATTTAAAGTTTAGTAGTTACAGATATTAGAGAGAAATTGCTTTTTTGAAGCTTTATTTTCCCATTAAAAAAAGTTTCATCTGAGAATATTTTTATGTTTGGAAATTTAAGATGTGTATTTTAATTATATTTTTCAAAGTAATACATGTACTTTTTAAAAAGAGTCAAAGTTATAAAAAGAAAATCTATGTCACCTATTTTACTCTTC... | pathogenic | 214,384 |
Is the genetic change at chromosome 13, position 39679963, within gene COG6 (component of oligomeric golgi complex 6) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TATGTTAACTATTTTCTATTGATTCTCTATTGTGAAATGTGAGGATTTAGCCTTCTACCCACTCTGTCTCCTCCCCCAACACAGATAGTACACACATATGTTCTCTTTATCTCCTTCATACATCATAGTACAGTTAGACCACATTTTCTATTTTCTTTTCCTTTTTTTTTGAGACAGGGTCTCGCTCTGTCAACCTGGCTGGAGTGCAGTAGCACGAACACAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCTCATCTCAGCCTCCCAGGTAGCTAGGGTATCCAGGCATGCACCACCACTCCTGGCTGA... | TATGTTAACTATTTTCTATTGATTCTCTATTGTGAAATGTGAGGATTTAGCCTTCTACCCACTCTGTCTCCTCCCCCAACACAGATAGTACACACATATGTTCTCTTTATCTCCTTCATACATCATAGTACAGTTAGACCACATTTTCTATTTTCTTTTCCTTTTTTTTTGAGACAGGGTCTCGCTCTGTCAACCTGGCTGGAGTGCAGTAGCACGAACACAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCTCATCTCAGCCTCCCAGGTAGCTAGGGTATCCAGGCATGCACCACCACTCCTGGCTGA... | benign | 214,386 |
A genetic alteration at chromosome 13, position 39679998, in gene COG6 (component of oligomeric golgi complex 6)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['COG6-congenital_disorder_of_glycosylation', 'Hypohidrosis-enamel_hypoplasia-palmoplantar_keratoderma-intellectual_disability_syndrome', 'Inborn_genetic_diseases'] | AATGTGAGGATTTAGCCTTCTACCCACTCTGTCTCCTCCCCCAACACAGATAGTACACACATATGTTCTCTTTATCTCCTTCATACATCATAGTACAGTTAGACCACATTTTCTATTTTCTTTTCCTTTTTTTTTGAGACAGGGTCTCGCTCTGTCAACCTGGCTGGAGTGCAGTAGCACGAACACAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCTCATCTCAGCCTCCCAGGTAGCTAGGGTATCCAGGCATGCACCACCACTCCTGGCTGATTTTTTAATTTTAATTTTTAGTAGAGATAGGATCT... | AATGTGAGGATTTAGCCTTCTACCCACTCTGTCTCCTCCCCCAACACAGATAGTACACACATATGTTCTCTTTATCTCCTTCATACATCATAGTACAGTTAGACCACATTTTCTATTTTCTTTTCCTTTTTTTTTGAGACAGGGTCTCGCTCTGTCAACCTGGCTGGAGTGCAGTAGCACGAACACAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCTCATCTCAGCCTCCCAGGTAGCTAGGGTATCCAGGCATGCACCACCACTCCTGGCTGATTTTTTAATTTTAATTTTTAGTAGAGATAGGATCT... | pathogenic | 214,387 |
Considering the genetic mutation at chromosome 13, position 39724500, impacting COG6 (component of oligomeric golgi complex 6): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CGAGCAGAGCTATTGGAGTTGCTTGGAAAATGGCAATCATTTAGATGGTAACAGATACCATAGTTGACAGTGTACTATGTCATTAGCAAGCAAACTGGTAAAATCTGGGGGAACATTCTGGTGAGGAATAGAAGGAAGACCTCTAGACTCAGGATTGTACTGGCACAAAAAAAAAAAAAAAAAGAACAAGATTTTTTCTCACCAGGGAATGTTTCAACCCATCAAGGTAGTTCTCTTCTGTGGTTTTTATCTCCATTAGCATTAGTTGGAATCCCCCAAAATAGCACAAAGCTGGGGAGCCCATACTACTCACATCTGTT... | CGAGCAGAGCTATTGGAGTTGCTTGGAAAATGGCAATCATTTAGATGGTAACAGATACCATAGTTGACAGTGTACTATGTCATTAGCAAGCAAACTGGTAAAATCTGGGGGAACATTCTGGTGAGGAATAGAAGGAAGACCTCTAGACTCAGGATTGTACTGGCACAAAAAAAAAAAAAAAAAGAACAAGATTTTTTCTCACCAGGGAATGTTTCAACCCATCAAGGTAGTTCTCTTCTGTGGTTTTTATCTCCATTAGCATTAGTTGGAATCCCCCAAAATAGCACAAAGCTGGGGAGCCCATACTACTCACATCTGTT... | benign | 214,413 |
Does the variant impacting COG6 (component of oligomeric golgi complex 6) on chromosome 13, position 39724501, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GAGCAGAGCTATTGGAGTTGCTTGGAAAATGGCAATCATTTAGATGGTAACAGATACCATAGTTGACAGTGTACTATGTCATTAGCAAGCAAACTGGTAAAATCTGGGGGAACATTCTGGTGAGGAATAGAAGGAAGACCTCTAGACTCAGGATTGTACTGGCACAAAAAAAAAAAAAAAAAGAACAAGATTTTTTCTCACCAGGGAATGTTTCAACCCATCAAGGTAGTTCTCTTCTGTGGTTTTTATCTCCATTAGCATTAGTTGGAATCCCCCAAAATAGCACAAAGCTGGGGAGCCCATACTACTCACATCTGTTA... | GAGCAGAGCTATTGGAGTTGCTTGGAAAATGGCAATCATTTAGATGGTAACAGATACCATAGTTGACAGTGTACTATGTCATTAGCAAGCAAACTGGTAAAATCTGGGGGAACATTCTGGTGAGGAATAGAAGGAAGACCTCTAGACTCAGGATTGTACTGGCACAAAAAAAAAAAAAAAAAGAACAAGATTTTTTCTCACCAGGGAATGTTTCAACCCATCAAGGTAGTTCTCTTCTGTGGTTTTTATCTCCATTAGCATTAGTTGGAATCCCCCAAAATAGCACAAAGCTGGGGAGCCCATACTACTCACATCTGTTA... | benign | 214,414 |
Mutation found at chromosome 13 position 39751399, gene COG6 (component of oligomeric golgi complex 6): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GAAATTTTGTAGGACAGGTAAGACATGAACAACATGTATTTCTGTAATTCTAAACAATTTTTTAAGTACATTTTGGAAATTGGGTTATATTGCAGTCATATCCATTTGATGCAGAACTAACCCCTTCCTAATACAAAGCTGTTGGGATCTGAACATCAAGAAAATGTAGAAGCTTTATTGTAAGTTAGGAGTGGTAAAAGCTATATGAAAGGAACAGAAAAAGTGCCATGGACATTCCACAAAGGAAGTAATTATTTCTAGCTCTAAAGATCAGACAAGACTTCATGGATAAGAGAGAACATTTTTGTTGAACATTAAGA... | GAAATTTTGTAGGACAGGTAAGACATGAACAACATGTATTTCTGTAATTCTAAACAATTTTTTAAGTACATTTTGGAAATTGGGTTATATTGCAGTCATATCCATTTGATGCAGAACTAACCCCTTCCTAATACAAAGCTGTTGGGATCTGAACATCAAGAAAATGTAGAAGCTTTATTGTAAGTTAGGAGTGGTAAAAGCTATATGAAAGGAACAGAAAAAGTGCCATGGACATTCCACAAAGGAAGTAATTATTTCTAGCTCTAAAGATCAGACAAGACTTCATGGATAAGAGAGAACATTTTTGTTGAACATTAAGA... | benign | 214,420 |
Gene SLC25A15 (solute carrier family 25 member 15) variant at chromosome position 40799058 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome'] | TATTTATTCATGGCTTTATGGACTTGATCGATCTTTGAGAACCTACTAGGTGTCAGTCTCTGTGGTTGGTACTGGTGTTCAGAACAGTCTTCTCTCACTTGAGGGCACAGTGAGCGCCGTGACCATATCATTTGTGGTAAATTACACGGGAAGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATG... | TATTTATTCATGGCTTTATGGACTTGATCGATCTTTGAGAACCTACTAGGTGTCAGTCTCTGTGGTTGGTACTGGTGTTCAGAACAGTCTTCTCTCACTTGAGGGCACAGTGAGCGCCGTGACCATATCATTTGTGGTAAATTACACGGGAAGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATG... | pathogenic | 214,438 |
For chromosome 13, position 40799096, gene SLC25A15 (solute carrier family 25 member 15): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome'] | GAACCTACTAGGTGTCAGTCTCTGTGGTTGGTACTGGTGTTCAGAACAGTCTTCTCTCACTTGAGGGCACAGTGAGCGCCGTGACCATATCATTTGTGGTAAATTACACGGGAAGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTTATTCAGCTTATCTGCA... | GAACCTACTAGGTGTCAGTCTCTGTGGTTGGTACTGGTGTTCAGAACAGTCTTCTCTCACTTGAGGGCACAGTGAGCGCCGTGACCATATCATTTGTGGTAAATTACACGGGAAGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTTATTCAGCTTATCTGCA... | pathogenic | 214,442 |
Variant at chromosome 13, position 40799112, gene SLC25A15 (solute carrier family 25 member 15): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome'] | AGTCTCTGTGGTTGGTACTGGTGTTCAGAACAGTCTTCTCTCACTTGAGGGCACAGTGAGCGCCGTGACCATATCATTTGTGGTAAATTACACGGGAAGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTTATTCAGCTTATCTGCATCTAGGCTCTCTGAAT... | AGTCTCTGTGGTTGGTACTGGTGTTCAGAACAGTCTTCTCTCACTTGAGGGCACAGTGAGCGCCGTGACCATATCATTTGTGGTAAATTACACGGGAAGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTTATTCAGCTTATCTGCATCTAGGCTCTCTGAAT... | pathogenic | 214,443 |
Mutation found at chromosome 13 position 40799209, gene SLC25A15 (solute carrier family 25 member 15): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome'] | AGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTTATTCAGCTTATCTGCATCTAGGCTCTCTGAATTACGCACCCACTTAAAACATTCTGTCACCTTTTCTCTTGGAATAATTAAATTATTTTAATGTAATTCAGATTTCTTTTTATCCTAGCCCAGCATTAC... | AGTTAGCTTACCCTTGCAGAGGACGGGAGACAGTTGTTGCTAGCATTTGTACATTCATTAGCCTCCCCCTTCTCCCTGTTGGAAATGTAACTGTCCCAGCTACACAGCAAATGTGTATTCTAGTAACCTGTGATGCCTGAACTGTTCAAGATGATCAAGTTAAAATATGAATGTGCTGAATTAAATGCTTTATTCAGCTTATCTGCATCTAGGCTCTCTGAATTACGCACCCACTTAAAACATTCTGTCACCTTTTCTCTTGGAATAATTAAATTATTTTAATGTAATTCAGATTTCTTTTTATCCTAGCCCAGCATTAC... | pathogenic | 214,446 |
Gene SLC25A15 (solute carrier family 25 member 15) variant at chromosome position 40805127 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome'] | CCTACCCCCAAATGCCAGTCATGATCCCATGACACAACACTCTTCTAGGGCTGGAAGGGATCTTCTATCCCAACTCCCATGAACCAGGAACTCGCAGAGAAGCCTTTCTTCTGAAACACTTCTCAGACTTTTCCCCGTATTCGTTTTTTTTTTTTTGAAAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGCTTCTTGTGCCTCAGCCACCAGAGTAGCTGGGATTACAGGCGTGCACCACCAGGCATGGCTAATTTTTAGTAGAGACGGG... | CCTACCCCCAAATGCCAGTCATGATCCCATGACACAACACTCTTCTAGGGCTGGAAGGGATCTTCTATCCCAACTCCCATGAACCAGGAACTCGCAGAGAAGCCTTTCTTCTGAAACACTTCTCAGACTTTTCCCCGTATTCGTTTTTTTTTTTTTGAAAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGCTTCTTGTGCCTCAGCCACCAGAGTAGCTGGGATTACAGGCGTGCACCACCAGGCATGGCTAATTTTTAGTAGAGACGGG... | pathogenic | 214,450 |
Does the variant on chromosome 13 at location 40805209 affecting gene SLC25A15 (solute carrier family 25 member 15) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome'] | ACCAGGAACTCGCAGAGAAGCCTTTCTTCTGAAACACTTCTCAGACTTTTCCCCGTATTCGTTTTTTTTTTTTTGAAAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGCTTCTTGTGCCTCAGCCACCAGAGTAGCTGGGATTACAGGCGTGCACCACCAGGCATGGCTAATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCCTCAACTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTATGAGCCACCAC... | ACCAGGAACTCGCAGAGAAGCCTTTCTTCTGAAACACTTCTCAGACTTTTCCCCGTATTCGTTTTTTTTTTTTTGAAAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGCTTCTTGTGCCTCAGCCACCAGAGTAGCTGGGATTACAGGCGTGCACCACCAGGCATGGCTAATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCCTCAACTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTATGAGCCACCAC... | pathogenic | 214,456 |
Regarding the variant at chromosome 13 and position 40805248, affecting gene SLC25A15 (solute carrier family 25 member 15): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome'] | CTCAGACTTTTCCCCGTATTCGTTTTTTTTTTTTTGAAAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGCTTCTTGTGCCTCAGCCACCAGAGTAGCTGGGATTACAGGCGTGCACCACCAGGCATGGCTAATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCCTCAACTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTATGAGCCACCACGCCTGGCCTCCCCATATTCTTGAACTCTTACTGGATTCC... | CTCAGACTTTTCCCCGTATTCGTTTTTTTTTTTTTGAAAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGCTTCTTGTGCCTCAGCCACCAGAGTAGCTGGGATTACAGGCGTGCACCACCAGGCATGGCTAATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCCTCAACTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTATGAGCCACCACGCCTGGCCTCCCCATATTCTTGAACTCTTACTGGATTCC... | pathogenic | 214,457 |
Variant in SLC25A15 (solute carrier family 25 member 15), chromosome 13, position 40807335—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome'] | TCTATTGCCCTAGTGTATTGGATGATTTTTCATTTTACATTGTACTAAAGTGGCAGATGTGGAAGCCAATTTATCTACTCCAAAATATTGTTTCTAGAATGCTTTCCCCTATCAGAGATTTTCTGAAAGGATTGGCTGTGATGGGACCCACCACCCACTGCATAAAAAGTCTTAGACAGATATTTAATACCCCAGAACTGGAGAAGCCAGGAGCTTAACACCCTTTTTGGCCTCTTGGAAACATAAGGCATGATCTTCAGCCATTTTTGGAGGTACATAATGGGTGGCTTTTGAACTTTGCCTTAGACCTGAGCCTTCAT... | TCTATTGCCCTAGTGTATTGGATGATTTTTCATTTTACATTGTACTAAAGTGGCAGATGTGGAAGCCAATTTATCTACTCCAAAATATTGTTTCTAGAATGCTTTCCCCTATCAGAGATTTTCTGAAAGGATTGGCTGTGATGGGACCCACCACCCACTGCATAAAAAGTCTTAGACAGATATTTAATACCCCAGAACTGGAGAAGCCAGGAGCTTAACACCCTTTTTGGCCTCTTGGAAACATAAGGCATGATCTTCAGCCATTTTTGGAGGTACATAATGGGTGGCTTTTGAACTTTGCCTTAGACCTGAGCCTTCAT... | pathogenic | 214,460 |
The chromosome 13, position 40807392 genetic variant in gene SLC25A15 (solute carrier family 25 member 15): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome'] | TGTGGAAGCCAATTTATCTACTCCAAAATATTGTTTCTAGAATGCTTTCCCCTATCAGAGATTTTCTGAAAGGATTGGCTGTGATGGGACCCACCACCCACTGCATAAAAAGTCTTAGACAGATATTTAATACCCCAGAACTGGAGAAGCCAGGAGCTTAACACCCTTTTTGGCCTCTTGGAAACATAAGGCATGATCTTCAGCCATTTTTGGAGGTACATAATGGGTGGCTTTTGAACTTTGCCTTAGACCTGAGCCTTCATAAGTGCCAATTTGGATTCTGAGATGAATATTTGATCCCCACTTCAGGTTTCGTATGG... | TGTGGAAGCCAATTTATCTACTCCAAAATATTGTTTCTAGAATGCTTTCCCCTATCAGAGATTTTCTGAAAGGATTGGCTGTGATGGGACCCACCACCCACTGCATAAAAAGTCTTAGACAGATATTTAATACCCCAGAACTGGAGAAGCCAGGAGCTTAACACCCTTTTTGGCCTCTTGGAAACATAAGGCATGATCTTCAGCCATTTTTGGAGGTACATAATGGGTGGCTTTTGAACTTTGCCTTAGACCTGAGCCTTCATAAGTGCCAATTTGGATTCTGAGATGAATATTTGATCCCCACTTCAGGTTTCGTATGG... | pathogenic | 214,463 |
Clinical classification of chromosome 13, position 40807393, gene SLC25A15 (solute carrier family 25 member 15): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome', 'SLC25A15-related_disorder'] | GTGGAAGCCAATTTATCTACTCCAAAATATTGTTTCTAGAATGCTTTCCCCTATCAGAGATTTTCTGAAAGGATTGGCTGTGATGGGACCCACCACCCACTGCATAAAAAGTCTTAGACAGATATTTAATACCCCAGAACTGGAGAAGCCAGGAGCTTAACACCCTTTTTGGCCTCTTGGAAACATAAGGCATGATCTTCAGCCATTTTTGGAGGTACATAATGGGTGGCTTTTGAACTTTGCCTTAGACCTGAGCCTTCATAAGTGCCAATTTGGATTCTGAGATGAATATTTGATCCCCACTTCAGGTTTCGTATGGG... | GTGGAAGCCAATTTATCTACTCCAAAATATTGTTTCTAGAATGCTTTCCCCTATCAGAGATTTTCTGAAAGGATTGGCTGTGATGGGACCCACCACCCACTGCATAAAAAGTCTTAGACAGATATTTAATACCCCAGAACTGGAGAAGCCAGGAGCTTAACACCCTTTTTGGCCTCTTGGAAACATAAGGCATGATCTTCAGCCATTTTTGGAGGTACATAATGGGTGGCTTTTGAACTTTGCCTTAGACCTGAGCCTTCATAAGTGCCAATTTGGATTCTGAGATGAATATTTGATCCCCACTTCAGGTTTCGTATGGG... | pathogenic | 214,464 |
Clinical significance of chromosome 13, position 40808570, gene SLC25A15 (solute carrier family 25 member 15): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome'] | CCATGTAGCAGTGCTGCAGGAAGGGCTGGCTGATGGGGAATACCTGACAGTGTCTTCTGAAGCTCTCAGAAGGAAAATAGTTTTTAAATGTCTGTGGCCTTTATTACCTTGGGACTTGATCCTTCATCTGTCCAAGCCAAGTCTCCTTCTTGCTGAGAACAAAGTGAGGAGAGAGGGATTCACTAAGTTGCACTGAGTATGTGATTTCTTGGCCTGTTCTTAGCAGGGATAAACCTGCCCTGGTTGCCCTCAATCATGAAGGGGAGTCAGACAAAGAGTGTCCTGTGTTCTGGCTGCTACAGGAGCAGGGCTGCTTAGAA... | CCATGTAGCAGTGCTGCAGGAAGGGCTGGCTGATGGGGAATACCTGACAGTGTCTTCTGAAGCTCTCAGAAGGAAAATAGTTTTTAAATGTCTGTGGCCTTTATTACCTTGGGACTTGATCCTTCATCTGTCCAAGCCAAGTCTCCTTCTTGCTGAGAACAAAGTGAGGAGAGAGGGATTCACTAAGTTGCACTGAGTATGTGATTTCTTGGCCTGTTCTTAGCAGGGATAAACCTGCCCTGGTTGCCCTCAATCATGAAGGGGAGTCAGACAAAGAGTGTCCTGTGTTCTGGCTGCTACAGGAGCAGGGCTGCTTAGAA... | pathogenic | 214,472 |
Does the variant impacting SUCLA2 (succinate-CoA ligase ADP-forming subunit beta) on chromosome 13, position 47988897, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome,_encephalomyopathic_form_with_methylmalonic_aciduria'] | CCCATGCATGGGACATTAACTCAATCACAAGTGCTCTTTGTAGTTTAAATAGGTGACTAATTTTTGTTGTTCAACAGAGATCTGTCCACAGGGATTCCCAAAAACATGGCTATACCCCAAAAAGTAACACCAACCAACTCTACATTGGTCTAATGTGATAATATCAAAGAATTTATAATGTCTTCGGTCAAACAGTTTTACTGGTACTACAGTATTTTTAACCTGAATTATAACCACGTATTATTAGTAAGCAAGTATTAAAATAAAAACATTTTATCCTCAACAAGACCTAAATAGTTGTCAGGAAATTCAAGTTCATA... | CCCATGCATGGGACATTAACTCAATCACAAGTGCTCTTTGTAGTTTAAATAGGTGACTAATTTTTGTTGTTCAACAGAGATCTGTCCACAGGGATTCCCAAAAACATGGCTATACCCCAAAAAGTAACACCAACCAACTCTACATTGGTCTAATGTGATAATATCAAAGAATTTATAATGTCTTCGGTCAAACAGTTTTACTGGTACTACAGTATTTTTAACCTGAATTATAACCACGTATTATTAGTAAGCAAGTATTAAAATAAAAACATTTTATCCTCAACAAGACCTAAATAGTTGTCAGGAAATTCAAGTTCATA... | pathogenic | 214,575 |
Is the genetic variant on chromosome 13, position 48303700, gene RB1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinoblastoma'] | AAGCATTTACTGTGTGTGTAACACTGTGCTAGGTACTAAGGCAATGATGATACCCAAGATTTGGTCTCTATCCTGAAGATAAGCACAGGAGAAACATTATCAGTCATGATGCTTTCTGTTGCAAACAAGTGAAAACCTCAGCTCAGCTTAGGTCAGCTCCAGGGCTGGCCAAATCAGAGGCTCATTTATAACACTGAGGATCCAGATTCTTTTGAAATTCCTCCTGCACCAATATCAGCATTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACT... | AAGCATTTACTGTGTGTGTAACACTGTGCTAGGTACTAAGGCAATGATGATACCCAAGATTTGGTCTCTATCCTGAAGATAAGCACAGGAGAAACATTATCAGTCATGATGCTTTCTGTTGCAAACAAGTGAAAACCTCAGCTCAGCTTAGGTCAGCTCCAGGGCTGGCCAAATCAGAGGCTCATTTATAACACTGAGGATCCAGATTCTTTTGAAATTCCTCCTGCACCAATATCAGCATTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACT... | pathogenic | 214,600 |
Determine whether the variant at chromosome 13, position 48303914, in gene RB1 (RB transcriptional corepressor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | AAATTCCTCCTGCACCAATATCAGCATTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACAT... | AAATTCCTCCTGCACCAATATCAGCATTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACAT... | pathogenic | 214,604 |
Does the variant impacting RB1 (RB transcriptional corepressor 1) on chromosome 13, position 48303921, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Malignant_tumor_of_urinary_bladder', 'Retinoblastoma'] | TCCTGCACCAATATCAGCATTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCA... | TCCTGCACCAATATCAGCATTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCA... | pathogenic | 214,607 |
For chromosome 13, position 48303925, gene RB1 (RB transcriptional corepressor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | GCACCAATATCAGCATTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAG... | GCACCAATATCAGCATTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAG... | pathogenic | 214,608 |
Chromosome 13, position 48303925, gene RB1 (RB transcriptional corepressor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | GCACCAATATCAGCATTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAG... | GCACCAATATCAGCATTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAG... | pathogenic | 214,609 |
For chromosome 13, position 48303940, gene RB1 (RB transcriptional corepressor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinoblastoma'] | TTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGT... | TTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGT... | pathogenic | 214,615 |
The genetic variant at chromosome 13, position 48303940, affecting gene RB1 (RB transcriptional corepressor 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinoblastoma'] | TTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGT... | TTTCTACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGT... | pathogenic | 214,616 |
Chromosome 13, position 48303944, gene RB1 (RB transcriptional corepressor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinoblastoma'] | TACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGG... | TACCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGG... | pathogenic | 214,619 |
The genetic variant at chromosome 13, position 48303946, affecting gene RB1 (RB transcriptional corepressor 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinoblastoma'] | CCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTA... | CCTTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTA... | pathogenic | 214,621 |
Is the variant located on chromosome 13 at position 48303948, gene RB1 (RB transcriptional corepressor 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGG... | TTCTCTGTAGGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGG... | benign | 214,623 |
For chromosome 13, position 48303957, gene RB1 (RB transcriptional corepressor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | GGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGGACTGGCTGT... | GGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGGACTGGCTGT... | pathogenic | 214,628 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 48303957, gene RB1 (RB transcriptional corepressor 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGGACTGGCTGT... | GGTTGGCTTGCCTCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGGACTGGCTGT... | pathogenic | 214,629 |
Clinical classification of chromosome 13, position 48303969, gene RB1 (RB transcriptional corepressor 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Retinoblastoma'] | TCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGGACTGGCTGTTGAGTAGGCCAG... | TCACGTTACAATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGGACTGGCTGTTGAGTAGGCCAG... | pathogenic | 214,634 |
Does the chromosome 13 mutation at position 48303978 within gene RB1 (RB transcriptional corepressor 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGGACTGGCTGTTGAGTAGGCCAGTGCTTGCCA... | AATGGCTGCAGCAATCAGAAGTGTCACATCCTCAGTAATACTTAATATTATTACTATTATTTAATAATATTTAGAACTGTGCCATCCCTGTTTCAATTTATCAGGCTCCCAGCAGACTACTCCTTATCTTTCAAATGTCAAAACTGCATCCTGAGCTCTTGCCTAAACTAATCTGGGGTGAGGTGAATGGAAGTAGCACTTTAATTGTATTCATTCTTTGTAGCTGGACCTGGGCCTGGGCCCTATCTCCTGACATTTGCCCACAAGAAAGATTTCTGAAGTTAGGTAGGACTGGCTGTTGAGTAGGCCAGTGCTTGCCA... | benign | 214,638 |
Variant at chromosome 13, position 48307297, gene RB1 (RB transcriptional corepressor 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Retinoblastoma'] | GAAAAGATTGAAGTGGGATTTAGGAAATGGCCCCTGGAAGGCTATTAAAAATTTATATATTTAAATGGACTGTCTTATAGGTCAGTTAAAAACCATATTCGTTAAAAAACCAAAATAACAACAACAAAAAATTAAAAACCACGTCTGGGGCATGTTCTGGGAAAAGACATGGCTTTAGTTTCTGATTAAATTCTGATGTATCCAATTCTTGCAAATTTCCCTTGGGAAAATGCAGTAATGGCTACTCTAAAGAATTCCATGTTATGCACACAGCTTTGGAAGCATACTCTAATGTAGGGTAACCAGGAATATTGACGTTG... | GAAAAGATTGAAGTGGGATTTAGGAAATGGCCCCTGGAAGGCTATTAAAAATTTATATATTTAAATGGACTGTCTTATAGGTCAGTTAAAAACCATATTCGTTAAAAAACCAAAATAACAACAACAAAAAATTAAAAACCACGTCTGGGGCATGTTCTGGGAAAAGACATGGCTTTAGTTTCTGATTAAATTCTGATGTATCCAATTCTTGCAAATTTCCCTTGGGAAAATGCAGTAATGGCTACTCTAAAGAATTCCATGTTATGCACACAGCTTTGGAAGCATACTCTAATGTAGGGTAACCAGGAATATTGACGTTG... | pathogenic | 214,672 |
Does the variant on chromosome 13 at location 48307352 affecting gene RB1 (RB transcriptional corepressor 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | TATATTTAAATGGACTGTCTTATAGGTCAGTTAAAAACCATATTCGTTAAAAAACCAAAATAACAACAACAAAAAATTAAAAACCACGTCTGGGGCATGTTCTGGGAAAAGACATGGCTTTAGTTTCTGATTAAATTCTGATGTATCCAATTCTTGCAAATTTCCCTTGGGAAAATGCAGTAATGGCTACTCTAAAGAATTCCATGTTATGCACACAGCTTTGGAAGCATACTCTAATGTAGGGTAACCAGGAATATTGACGTTGTGGCCACTGCTTGGAAAAAAGAGGACTGTTTCTTTCATTTTTTAACTCATTTTAT... | TATATTTAAATGGACTGTCTTATAGGTCAGTTAAAAACCATATTCGTTAAAAAACCAAAATAACAACAACAAAAAATTAAAAACCACGTCTGGGGCATGTTCTGGGAAAAGACATGGCTTTAGTTTCTGATTAAATTCTGATGTATCCAATTCTTGCAAATTTCCCTTGGGAAAATGCAGTAATGGCTACTCTAAAGAATTCCATGTTATGCACACAGCTTTGGAAGCATACTCTAATGTAGGGTAACCAGGAATATTGACGTTGTGGCCACTGCTTGGAAAAAAGAGGACTGTTTCTTTCATTTTTTAACTCATTTTAT... | pathogenic | 214,685 |
Considering the genetic mutation at chromosome 13, position 48342592, impacting RB1 (RB transcriptional corepressor 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTAGCAACTTTCGCTTCATTTTTTAATCTTTAAAAGAGAGAGAGAGAAAAAAAAAGGCTGGAATTGATGAAAGGACATATATTGAGAGCAGTTATTGCCTGAGTGCAAAGAAACAAACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTAT... | TTAGCAACTTTCGCTTCATTTTTTAATCTTTAAAAGAGAGAGAGAGAAAAAAAAAGGCTGGAATTGATGAAAGGACATATATTGAGAGCAGTTATTGCCTGAGTGCAAAGAAACAAACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTAT... | benign | 214,694 |
Does the chromosome 13 mutation at position 48342616 within gene RB1 (RB transcriptional corepressor 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Retinoblastoma'] | AATCTTTAAAAGAGAGAGAGAGAAAAAAAAAGGCTGGAATTGATGAAAGGACATATATTGAGAGCAGTTATTGCCTGAGTGCAAAGAAACAAACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAA... | AATCTTTAAAAGAGAGAGAGAGAAAAAAAAAGGCTGGAATTGATGAAAGGACATATATTGAGAGCAGTTATTGCCTGAGTGCAAAGAAACAAACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAA... | pathogenic | 214,698 |
Determine whether the variant at chromosome 13, position 48342616, in gene RB1 (RB transcriptional corepressor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Retinoblastoma'] | AATCTTTAAAAGAGAGAGAGAGAAAAAAAAAGGCTGGAATTGATGAAAGGACATATATTGAGAGCAGTTATTGCCTGAGTGCAAAGAAACAAACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAA... | AATCTTTAAAAGAGAGAGAGAGAAAAAAAAAGGCTGGAATTGATGAAAGGACATATATTGAGAGCAGTTATTGCCTGAGTGCAAAGAAACAAACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAA... | pathogenic | 214,699 |
Variant on chromosome 13, at position 48342621, affecting RB1 (RB transcriptional corepressor 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | TTAAAAGAGAGAGAGAGAAAAAAAAAGGCTGGAATTGATGAAAGGACATATATTGAGAGCAGTTATTGCCTGAGTGCAAAGAAACAAACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAACAGTA... | TTAAAAGAGAGAGAGAGAAAAAAAAAGGCTGGAATTGATGAAAGGACATATATTGAGAGCAGTTATTGCCTGAGTGCAAAGAAACAAACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAACAGTA... | pathogenic | 214,701 |
Does the genetic variant at chromosome 13, position 48342691, impacting gene RB1 (RB transcriptional corepressor 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | TGAGTGCAAAGAAACAAACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAACAGTAAGTATGTAACATAGTTTCAAAATCAGATTTATTGAGGTATAATTTACATACACAAAATATGCCAATTTTA... | TGAGTGCAAAGAAACAAACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAACAGTAAGTATGTAACATAGTTTCAAAATCAGATTTATTGAGGTATAATTTACATACACAAAATATGCCAATTTTA... | pathogenic | 214,712 |
Regarding the variant found on chromosome 13 at position 48342703 in gene RB1 (RB transcriptional corepressor 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'RB1-related_disorder', 'Retinoblastoma'] | AACAAACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAACAGTAAGTATGTAACATAGTTTCAAAATCAGATTTATTGAGGTATAATTTACATACACAAAATATGCCAATTTTAAGTGCACAGTTC... | AACAAACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAACAGTAAGTATGTAACATAGTTTCAAAATCAGATTTATTGAGGTATAATTTACATACACAAAATATGCCAATTTTAAGTGCACAGTTC... | pathogenic | 214,715 |
Clinical significance of chromosome 13, position 48342707, gene RB1 (RB transcriptional corepressor 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinoblastoma'] | AACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAACAGTAAGTATGTAACATAGTTTCAAAATCAGATTTATTGAGGTATAATTTACATACACAAAATATGCCAATTTTAAGTGCACAGTTCAATA... | AACCAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAACAGTAAGTATGTAACATAGTTTCAAAATCAGATTTATTGAGGTATAATTTACATACACAAAATATGCCAATTTTAAGTGCACAGTTCAATA... | pathogenic | 214,717 |
Determine if the mutation at chromosome 13, position 48342710 in gene RB1 (RB transcriptional corepressor 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | CAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAACAGTAAGTATGTAACATAGTTTCAAAATCAGATTTATTGAGGTATAATTTACATACACAAAATATGCCAATTTTAAGTGCACAGTTCAATACGT... | CAAAATGGTAAGAAATAAGCATAAAAATTTAAAGACTATGGTAGTTGGGGTTATTTATTAAAGAGACAAACAACCTTTGACATCTTATTAGTTCCCAAGAAATTGACCATATTAACATAAACACAAATACAGAAGTTGATTTTTGTTCATTTTATTAAAATATATATTTTTAATTAGTCTTGAAAACAGTGAAGCAGTGTATACTTTGTATCTTCAATTTCAGAAACAGTAAGTATGTAACATAGTTTCAAAATCAGATTTATTGAGGTATAATTTACATACACAAAATATGCCAATTTTAAGTGCACAGTTCAATACGT... | pathogenic | 214,719 |
A mutation at chromosome position 48345151 on chromosome 13 in gene RB1 (RB transcriptional corepressor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinoblastoma'] | GATTGTTTTAACTAGAGGATATTATAACTAAATGCTTTTTTTCAGATTATATATTGATTTGAACATGCTACAATACTTGAACCAGTTAATTACTTAATAGGTGTTTGTTGTTGAGTTTATAAGCCTCATAAGAAGAGTTTATTAATGTGTTTTCAATAATGTATGAACTTTATCTTCAGAAAGTATCCAGGACTTCCAGTCATTTTCTTTGCAACATATTTACAAAAATGCAACAGTATGTATTTTTACCAAATAGGTAATTATGTTTCTCCTTGAACAAAGACATCTAGAATTAAACATAATTGATATTTTATTTAAAC... | GATTGTTTTAACTAGAGGATATTATAACTAAATGCTTTTTTTCAGATTATATATTGATTTGAACATGCTACAATACTTGAACCAGTTAATTACTTAATAGGTGTTTGTTGTTGAGTTTATAAGCCTCATAAGAAGAGTTTATTAATGTGTTTTCAATAATGTATGAACTTTATCTTCAGAAAGTATCCAGGACTTCCAGTCATTTTCTTTGCAACATATTTACAAAAATGCAACAGTATGTATTTTTACCAAATAGGTAATTATGTTTCTCCTTGAACAAAGACATCTAGAATTAAACATAATTGATATTTTATTTAAAC... | pathogenic | 214,735 |
Variant at chromosome position 48349019, chromosome 13, gene RB1 (RB transcriptional corepressor 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinoblastoma'] | GATATAGAATTTGGGGACTCATTGGTAGGAGTGATTTGGGGTACAGTTCTGATTTTTTTTCCTGCTATAGTAATTTCGACTGGATGCTTCCAAGTTGTTTGCTCTGCTGTCTGAGATAAGGAATCTGCTTGGATATTTGTTTCTGTTGTAAGAAGCAGGAATTACATAGTGGACAAAGCATTACATTGTATATGTTTAAGGGTGAAGGGTAACTATAGTGGTGATTTTGGTCAGAGAAAAAACCATAGAAGGCAATGTCCGAATAGGGTTTACAGGAAAAATAGAAATTCACCAAGCAAAATGAGTGGGAACTGGGAGCG... | GATATAGAATTTGGGGACTCATTGGTAGGAGTGATTTGGGGTACAGTTCTGATTTTTTTTCCTGCTATAGTAATTTCGACTGGATGCTTCCAAGTTGTTTGCTCTGCTGTCTGAGATAAGGAATCTGCTTGGATATTTGTTTCTGTTGTAAGAAGCAGGAATTACATAGTGGACAAAGCATTACATTGTATATGTTTAAGGGTGAAGGGTAACTATAGTGGTGATTTTGGTCAGAGAAAAAACCATAGAAGGCAATGTCCGAATAGGGTTTACAGGAAAAATAGAAATTCACCAAGCAAAATGAGTGGGAACTGGGAGCG... | pathogenic | 214,765 |
Determine whether the variant at chromosome 13, position 48349024, in gene RB1 (RB transcriptional corepressor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | AGAATTTGGGGACTCATTGGTAGGAGTGATTTGGGGTACAGTTCTGATTTTTTTTCCTGCTATAGTAATTTCGACTGGATGCTTCCAAGTTGTTTGCTCTGCTGTCTGAGATAAGGAATCTGCTTGGATATTTGTTTCTGTTGTAAGAAGCAGGAATTACATAGTGGACAAAGCATTACATTGTATATGTTTAAGGGTGAAGGGTAACTATAGTGGTGATTTTGGTCAGAGAAAAAACCATAGAAGGCAATGTCCGAATAGGGTTTACAGGAAAAATAGAAATTCACCAAGCAAAATGAGTGGGAACTGGGAGCGAGCAT... | AGAATTTGGGGACTCATTGGTAGGAGTGATTTGGGGTACAGTTCTGATTTTTTTTCCTGCTATAGTAATTTCGACTGGATGCTTCCAAGTTGTTTGCTCTGCTGTCTGAGATAAGGAATCTGCTTGGATATTTGTTTCTGTTGTAAGAAGCAGGAATTACATAGTGGACAAAGCATTACATTGTATATGTTTAAGGGTGAAGGGTAACTATAGTGGTGATTTTGGTCAGAGAAAAAACCATAGAAGGCAATGTCCGAATAGGGTTTACAGGAAAAATAGAAATTCACCAAGCAAAATGAGTGGGAACTGGGAGCGAGCAT... | pathogenic | 214,768 |
The chromosome 13, position 48360004 genetic variant in gene RB1 (RB transcriptional corepressor 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ATGAACAATCACAGAAATACTTAACTACATTTGCGATAAGGAATGTAAAGGGAAAGTGTAATCCCCCAATGGGTTCTTCCTGCTGGCTGCACAGACAAAATCAATCCACCAAGATTGTGGCATTGCAGTAGAGATAGTTTAATTGACCACTAGGCTGACCCATGTGGGAGAACTGGAGTTATCACTCAAATCAGCCTCAGCTGGTTAAGTTCTTAGTGCAAGCACTCATAGGGCATTTTCTTCTTTTAGATTATCTTTCAGATTGGGTTCTCTGTCTGATTTTTTTCCCCTTCTTATGTTGTGATTCTTTTTTGATTTTC... | ATGAACAATCACAGAAATACTTAACTACATTTGCGATAAGGAATGTAAAGGGAAAGTGTAATCCCCCAATGGGTTCTTCCTGCTGGCTGCACAGACAAAATCAATCCACCAAGATTGTGGCATTGCAGTAGAGATAGTTTAATTGACCACTAGGCTGACCCATGTGGGAGAACTGGAGTTATCACTCAAATCAGCCTCAGCTGGTTAAGTTCTTAGTGCAAGCACTCATAGGGCATTTTCTTCTTTTAGATTATCTTTCAGATTGGGTTCTCTGTCTGATTTTTTTCCCCTTCTTATGTTGTGATTCTTTTTTGATTTTC... | benign | 214,771 |
Is the genetic change at chromosome 13, position 48360004, within gene RB1 (RB transcriptional corepressor 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATGAACAATCACAGAAATACTTAACTACATTTGCGATAAGGAATGTAAAGGGAAAGTGTAATCCCCCAATGGGTTCTTCCTGCTGGCTGCACAGACAAAATCAATCCACCAAGATTGTGGCATTGCAGTAGAGATAGTTTAATTGACCACTAGGCTGACCCATGTGGGAGAACTGGAGTTATCACTCAAATCAGCCTCAGCTGGTTAAGTTCTTAGTGCAAGCACTCATAGGGCATTTTCTTCTTTTAGATTATCTTTCAGATTGGGTTCTCTGTCTGATTTTTTTCCCCTTCTTATGTTGTGATTCTTTTTTGATTTTC... | ATGAACAATCACAGAAATACTTAACTACATTTGCGATAAGGAATGTAAAGGGAAAGTGTAATCCCCCAATGGGTTCTTCCTGCTGGCTGCACAGACAAAATCAATCCACCAAGATTGTGGCATTGCAGTAGAGATAGTTTAATTGACCACTAGGCTGACCCATGTGGGAGAACTGGAGTTATCACTCAAATCAGCCTCAGCTGGTTAAGTTCTTAGTGCAAGCACTCATAGGGCATTTTCTTCTTTTAGATTATCTTTCAGATTGGGTTCTCTGTCTGATTTTTTTCCCCTTCTTATGTTGTGATTCTTTTTTGATTTTC... | benign | 214,774 |
Is chromosome 13, position 48360015, gene RB1 (RB transcriptional corepressor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Retinoblastoma'] | CAGAAATACTTAACTACATTTGCGATAAGGAATGTAAAGGGAAAGTGTAATCCCCCAATGGGTTCTTCCTGCTGGCTGCACAGACAAAATCAATCCACCAAGATTGTGGCATTGCAGTAGAGATAGTTTAATTGACCACTAGGCTGACCCATGTGGGAGAACTGGAGTTATCACTCAAATCAGCCTCAGCTGGTTAAGTTCTTAGTGCAAGCACTCATAGGGCATTTTCTTCTTTTAGATTATCTTTCAGATTGGGTTCTCTGTCTGATTTTTTTCCCCTTCTTATGTTGTGATTCTTTTTTGATTTTCTATGTTTACAT... | CAGAAATACTTAACTACATTTGCGATAAGGAATGTAAAGGGAAAGTGTAATCCCCCAATGGGTTCTTCCTGCTGGCTGCACAGACAAAATCAATCCACCAAGATTGTGGCATTGCAGTAGAGATAGTTTAATTGACCACTAGGCTGACCCATGTGGGAGAACTGGAGTTATCACTCAAATCAGCCTCAGCTGGTTAAGTTCTTAGTGCAAGCACTCATAGGGCATTTTCTTCTTTTAGATTATCTTTCAGATTGGGTTCTCTGTCTGATTTTTTTCCCCTTCTTATGTTGTGATTCTTTTTTGATTTTCTATGTTTACAT... | pathogenic | 214,776 |
Variant at chromosome position 48362828, chromosome 13, gene RB1 (RB transcriptional corepressor 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'RB1-related_disorder'] | TTCAAGAGTAGGATTTCAAAGTCACTTATTATATTATTATATACAGAAAAATGTAAACTTACTTAAGGTCAGACTAATTCCTTGCTTCTGAAATGATGAAAGTATTAATGCTAAAAATAATAGATAACATGGAAGTTTCAAAGTGTTGTTGAAATGGATGGAAGGATGAAGGCTCATTAAACTTTGTGAACAAGAATTTAGTGGAAAAATTAAGTATGGAGCAGAATTTTGAAGATGTGTTGAACATGGTTTGGCAGAGAAGGCAGAAACCTTCATTTAGCAGAAACCACATGCAAAGAAAGAAATAAAAAAAATTCTAT... | TTCAAGAGTAGGATTTCAAAGTCACTTATTATATTATTATATACAGAAAAATGTAAACTTACTTAAGGTCAGACTAATTCCTTGCTTCTGAAATGATGAAAGTATTAATGCTAAAAATAATAGATAACATGGAAGTTTCAAAGTGTTGTTGAAATGGATGGAAGGATGAAGGCTCATTAAACTTTGTGAACAAGAATTTAGTGGAAAAATTAAGTATGGAGCAGAATTTTGAAGATGTGTTGAACATGGTTTGGCAGAGAAGGCAGAAACCTTCATTTAGCAGAAACCACATGCAAAGAAAGAAATAAAAAAAATTCTAT... | pathogenic | 214,797 |
Variant at chromosome position 48362864, chromosome 13, gene RB1 (RB transcriptional corepressor 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | TTATATACAGAAAAATGTAAACTTACTTAAGGTCAGACTAATTCCTTGCTTCTGAAATGATGAAAGTATTAATGCTAAAAATAATAGATAACATGGAAGTTTCAAAGTGTTGTTGAAATGGATGGAAGGATGAAGGCTCATTAAACTTTGTGAACAAGAATTTAGTGGAAAAATTAAGTATGGAGCAGAATTTTGAAGATGTGTTGAACATGGTTTGGCAGAGAAGGCAGAAACCTTCATTTAGCAGAAACCACATGCAAAGAAAGAAATAAAAAAAATTCTATATAGAAAACAAATATACTTCAAATTTTCTCCCAAAT... | TTATATACAGAAAAATGTAAACTTACTTAAGGTCAGACTAATTCCTTGCTTCTGAAATGATGAAAGTATTAATGCTAAAAATAATAGATAACATGGAAGTTTCAAAGTGTTGTTGAAATGGATGGAAGGATGAAGGCTCATTAAACTTTGTGAACAAGAATTTAGTGGAAAAATTAAGTATGGAGCAGAATTTTGAAGATGTGTTGAACATGGTTTGGCAGAGAAGGCAGAAACCTTCATTTAGCAGAAACCACATGCAAAGAAAGAAATAAAAAAAATTCTATATAGAAAACAAATATACTTCAAATTTTCTCCCAAAT... | pathogenic | 214,802 |
Does the variant impacting RB1 (RB transcriptional corepressor 1) on chromosome 13, position 48362940, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | AAAAATAATAGATAACATGGAAGTTTCAAAGTGTTGTTGAAATGGATGGAAGGATGAAGGCTCATTAAACTTTGTGAACAAGAATTTAGTGGAAAAATTAAGTATGGAGCAGAATTTTGAAGATGTGTTGAACATGGTTTGGCAGAGAAGGCAGAAACCTTCATTTAGCAGAAACCACATGCAAAGAAAGAAATAAAAAAAATTCTATATAGAAAACAAATATACTTCAAATTTTCTCCCAAATTTTATAAATTTCCTTTATATACCCTTTCCCCACTTTTTTCAATGTTATAACTTTAATAAGTTGATGTTGCAAGTTA... | AAAAATAATAGATAACATGGAAGTTTCAAAGTGTTGTTGAAATGGATGGAAGGATGAAGGCTCATTAAACTTTGTGAACAAGAATTTAGTGGAAAAATTAAGTATGGAGCAGAATTTTGAAGATGTGTTGAACATGGTTTGGCAGAGAAGGCAGAAACCTTCATTTAGCAGAAACCACATGCAAAGAAAGAAATAAAAAAAATTCTATATAGAAAACAAATATACTTCAAATTTTCTCCCAAATTTTATAAATTTCCTTTATATACCCTTTCCCCACTTTTTTCAATGTTATAACTTTAATAAGTTGATGTTGCAAGTTA... | pathogenic | 214,810 |
Is the genetic variant on chromosome 13, position 48364896, gene RB1 (RB transcriptional corepressor 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | GAACACCCAGGCGAGGTCAGAACAGGAGTGCACGGATAGCAAAACAACTAGAAAATGATACAAGAATTATTGAAGTTCTCTGTAAAGAACATGAATGTAATATAGATGAGGTAATTTAACTTCATGATTTCTTTAAAACAGTTAAAGTAGATTTAGATGTAAGTTCTCCCTAACAATATTTACTTCTTTTGTTATGAGCATGTTTTTTTTGTAATTAGTGCTAACTCTTTTGCAGTAGCAAAATATTTAGAAAAAATTAATTCGTTATATTTAGTTACTTTGATTTTAAAGAGAGTAGCTCCCTCACTCTGGAATCACTG... | GAACACCCAGGCGAGGTCAGAACAGGAGTGCACGGATAGCAAAACAACTAGAAAATGATACAAGAATTATTGAAGTTCTCTGTAAAGAACATGAATGTAATATAGATGAGGTAATTTAACTTCATGATTTCTTTAAAACAGTTAAAGTAGATTTAGATGTAAGTTCTCCCTAACAATATTTACTTCTTTTGTTATGAGCATGTTTTTTTTGTAATTAGTGCTAACTCTTTTGCAGTAGCAAAATATTTAGAAAAAATTAATTCGTTATATTTAGTTACTTTGATTTTAAAGAGAGTAGCTCCCTCACTCTGGAATCACTG... | pathogenic | 214,821 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 48367501, gene RB1 (RB transcriptional corepressor 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinoblastoma'] | AAGTGTTTTACCTTAGTGATATTCCATCCATCTACCTGTTTTGTTTCGCATTTTGCTACAAATGTCTTTCCAATGAGAACAGAATAACTGAGAGCTTTGCATGGTAAGACGAAATATGTGGAGAAAAGGATGCTGTGATAGATGATGAAGAACAAAACCAGTGTTTTAGAAGACATAGTATTAGTCACTATGACCAAAAGGCATGAAATAAAATAGCTAGACTGCTAGTTCTGTAACCTGAATTGATAGCTAGTTTTTGAATTAATTTATTAATTCAACAAATATTTTTTGAATGCTTAATATATGTCAGGCACGTGCTA... | AAGTGTTTTACCTTAGTGATATTCCATCCATCTACCTGTTTTGTTTCGCATTTTGCTACAAATGTCTTTCCAATGAGAACAGAATAACTGAGAGCTTTGCATGGTAAGACGAAATATGTGGAGAAAAGGATGCTGTGATAGATGATGAAGAACAAAACCAGTGTTTTAGAAGACATAGTATTAGTCACTATGACCAAAAGGCATGAAATAAAATAGCTAGACTGCTAGTTCTGTAACCTGAATTGATAGCTAGTTTTTGAATTAATTTATTAATTCAACAAATATTTTTTGAATGCTTAATATATGTCAGGCACGTGCTA... | pathogenic | 214,831 |
A genetic variant at chromosome 13, position 48367516, affecting gene RB1 (RB transcriptional corepressor 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | GTGATATTCCATCCATCTACCTGTTTTGTTTCGCATTTTGCTACAAATGTCTTTCCAATGAGAACAGAATAACTGAGAGCTTTGCATGGTAAGACGAAATATGTGGAGAAAAGGATGCTGTGATAGATGATGAAGAACAAAACCAGTGTTTTAGAAGACATAGTATTAGTCACTATGACCAAAAGGCATGAAATAAAATAGCTAGACTGCTAGTTCTGTAACCTGAATTGATAGCTAGTTTTTGAATTAATTTATTAATTCAACAAATATTTTTTGAATGCTTAATATATGTCAGGCACGTGCTAGATACTATGGATACA... | GTGATATTCCATCCATCTACCTGTTTTGTTTCGCATTTTGCTACAAATGTCTTTCCAATGAGAACAGAATAACTGAGAGCTTTGCATGGTAAGACGAAATATGTGGAGAAAAGGATGCTGTGATAGATGATGAAGAACAAAACCAGTGTTTTAGAAGACATAGTATTAGTCACTATGACCAAAAGGCATGAAATAAAATAGCTAGACTGCTAGTTCTGTAACCTGAATTGATAGCTAGTTTTTGAATTAATTTATTAATTCAACAAATATTTTTTGAATGCTTAATATATGTCAGGCACGTGCTAGATACTATGGATACA... | pathogenic | 214,836 |
The mutation in gene RB1 (RB transcriptional corepressor 1) at chromosome 13, position 48367574—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | TGAGAACAGAATAACTGAGAGCTTTGCATGGTAAGACGAAATATGTGGAGAAAAGGATGCTGTGATAGATGATGAAGAACAAAACCAGTGTTTTAGAAGACATAGTATTAGTCACTATGACCAAAAGGCATGAAATAAAATAGCTAGACTGCTAGTTCTGTAACCTGAATTGATAGCTAGTTTTTGAATTAATTTATTAATTCAACAAATATTTTTTGAATGCTTAATATATGTCAGGCACGTGCTAGATACTATGGATACAGAGATTTCACTCTCAGTCACTATCCTTAAAGTGCTAGTGGGAGAGGCTGACAAAGAAA... | TGAGAACAGAATAACTGAGAGCTTTGCATGGTAAGACGAAATATGTGGAGAAAAGGATGCTGTGATAGATGATGAAGAACAAAACCAGTGTTTTAGAAGACATAGTATTAGTCACTATGACCAAAAGGCATGAAATAAAATAGCTAGACTGCTAGTTCTGTAACCTGAATTGATAGCTAGTTTTTGAATTAATTTATTAATTCAACAAATATTTTTTGAATGCTTAATATATGTCAGGCACGTGCTAGATACTATGGATACAGAGATTTCACTCTCAGTCACTATCCTTAAAGTGCTAGTGGGAGAGGCTGACAAAGAAA... | pathogenic | 214,844 |
Is the genetic mutation found on chromosome 13 at position 48368533, within the gene RB1 (RB transcriptional corepressor 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | ACTTCTCTGAGGTTGGAATCACTTTGGCGTTAAAAGTCACAGTAGAAGGCATGCCAATAGTTTTCTCTTGGGCATTGGTTTTTAAAGTATAATTAAAAAATTATGGATCAGAACTGATGAAAGATTTACAAATTCTAGCAATTGAAAAAGTATCTAAGATTGGGAATAAATTGTGCAAGTGTGTTAATTGAACTGATAAATTGAGCTAATTGTCTTGCCCAAGATACTTAACTGAAGGGTACTGGAGTGAACCAAAGGGTTTAGAAAACATTGGTAGAATATGTAATCAAGAGGATTTGCAACAATGTTTGAAAAAATAT... | ACTTCTCTGAGGTTGGAATCACTTTGGCGTTAAAAGTCACAGTAGAAGGCATGCCAATAGTTTTCTCTTGGGCATTGGTTTTTAAAGTATAATTAAAAAATTATGGATCAGAACTGATGAAAGATTTACAAATTCTAGCAATTGAAAAAGTATCTAAGATTGGGAATAAATTGTGCAAGTGTGTTAATTGAACTGATAAATTGAGCTAATTGTCTTGCCCAAGATACTTAACTGAAGGGTACTGGAGTGAACCAAAGGGTTTAGAAAACATTGGTAGAATATGTAATCAAGAGGATTTGCAACAATGTTTGAAAAAATAT... | pathogenic | 214,852 |
Benign or pathogenic: chromosome 13, position 48373434, gene RB1 (RB transcriptional corepressor 1) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | AAAATTTTGTGTCCCATTCCACTGAGGAATATGCCTAGGCCTTACTACCACAGACATAGTGTATAAAAATCTCTGGGCTTGTCTGTTGTAGCAGTTTACTTGAGAGTTTTTAAAGATCTGAACCAACGATAGTGGTGGGAATGAAGGAACAATAACAGATTTGATAAATATTTGATGAATTCATACTTAGAATGTTGTTCTTGAGGCATTTCTGAAGAAGATATCTAGTAAGCAGTAGGATAGCCTTCTATAGATTTGGGAATCATCAGGGGAGTTAAACCCATAAAAAAAAATGAGATTGCTTGAAGGGAGGGTGCATA... | AAAATTTTGTGTCCCATTCCACTGAGGAATATGCCTAGGCCTTACTACCACAGACATAGTGTATAAAAATCTCTGGGCTTGTCTGTTGTAGCAGTTTACTTGAGAGTTTTTAAAGATCTGAACCAACGATAGTGGTGGGAATGAAGGAACAATAACAGATTTGATAAATATTTGATGAATTCATACTTAGAATGTTGTTCTTGAGGCATTTCTGAAGAAGATATCTAGTAAGCAGTAGGATAGCCTTCTATAGATTTGGGAATCATCAGGGGAGTTAAACCCATAAAAAAAAATGAGATTGCTTGAAGGGAGGGTGCATA... | pathogenic | 214,870 |
The mutation in gene RB1 (RB transcriptional corepressor 1) at chromosome 13, position 48373467—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinoblastoma'] | CCTAGGCCTTACTACCACAGACATAGTGTATAAAAATCTCTGGGCTTGTCTGTTGTAGCAGTTTACTTGAGAGTTTTTAAAGATCTGAACCAACGATAGTGGTGGGAATGAAGGAACAATAACAGATTTGATAAATATTTGATGAATTCATACTTAGAATGTTGTTCTTGAGGCATTTCTGAAGAAGATATCTAGTAAGCAGTAGGATAGCCTTCTATAGATTTGGGAATCATCAGGGGAGTTAAACCCATAAAAAAAAATGAGATTGCTTGAAGGGAGGGTGCATAATGGCAAGAGTGGGTGGCTAAGGGCTGAAGCCT... | CCTAGGCCTTACTACCACAGACATAGTGTATAAAAATCTCTGGGCTTGTCTGTTGTAGCAGTTTACTTGAGAGTTTTTAAAGATCTGAACCAACGATAGTGGTGGGAATGAAGGAACAATAACAGATTTGATAAATATTTGATGAATTCATACTTAGAATGTTGTTCTTGAGGCATTTCTGAAGAAGATATCTAGTAAGCAGTAGGATAGCCTTCTATAGATTTGGGAATCATCAGGGGAGTTAAACCCATAAAAAAAAATGAGATTGCTTGAAGGGAGGGTGCATAATGGCAAGAGTGGGTGGCTAAGGGCTGAAGCCT... | pathogenic | 214,872 |
Determine if the mutation at chromosome 13, position 48380023 in gene RB1 (RB transcriptional corepressor 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AAAGATAAAAAATGGAACATTTGCACAGAGCACTTACTATGAAAGGAGCTTACAGGATTGAAAGTTGCTCTGAATGAGTCAGTGAGTCGAGTGGCAAGTGAATGTGAAGGCCTACAATATTACCTATGACATGACTGTACACTATCGTAGACTTTATAAATACTACACTTAGGCTAAACTAATTTCATAAACATTTTTTCTTTCTTCAGTAGTAAATTAACCATAGCTCACTGTAACTTTTTTACTTTATAAATCTTCAGTTTGTAAGAAACTTTTGACTCTTATAACACTTAGCTTAAAACACAAACACCTTATACAGC... | AAAGATAAAAAATGGAACATTTGCACAGAGCACTTACTATGAAAGGAGCTTACAGGATTGAAAGTTGCTCTGAATGAGTCAGTGAGTCGAGTGGCAAGTGAATGTGAAGGCCTACAATATTACCTATGACATGACTGTACACTATCGTAGACTTTATAAATACTACACTTAGGCTAAACTAATTTCATAAACATTTTTTCTTTCTTCAGTAGTAAATTAACCATAGCTCACTGTAACTTTTTTACTTTATAAATCTTCAGTTTGTAAGAAACTTTTGACTCTTATAACACTTAGCTTAAAACACAAACACCTTATACAGC... | benign | 214,926 |
Benign or pathogenic: chromosome 13, position 48380078, gene RB1 (RB transcriptional corepressor 1) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | GATTGAAAGTTGCTCTGAATGAGTCAGTGAGTCGAGTGGCAAGTGAATGTGAAGGCCTACAATATTACCTATGACATGACTGTACACTATCGTAGACTTTATAAATACTACACTTAGGCTAAACTAATTTCATAAACATTTTTTCTTTCTTCAGTAGTAAATTAACCATAGCTCACTGTAACTTTTTTACTTTATAAATCTTCAGTTTGTAAGAAACTTTTGACTCTTATAACACTTAGCTTAAAACACAAACACCTTATACAGCTGTACAAAAATATTTTCTTTCTTTATAATCCTTATTCTGTACACTTTTTTCTATT... | GATTGAAAGTTGCTCTGAATGAGTCAGTGAGTCGAGTGGCAAGTGAATGTGAAGGCCTACAATATTACCTATGACATGACTGTACACTATCGTAGACTTTATAAATACTACACTTAGGCTAAACTAATTTCATAAACATTTTTTCTTTCTTCAGTAGTAAATTAACCATAGCTCACTGTAACTTTTTTACTTTATAAATCTTCAGTTTGTAAGAAACTTTTGACTCTTATAACACTTAGCTTAAAACACAAACACCTTATACAGCTGTACAAAAATATTTTCTTTCTTTATAATCCTTATTCTGTACACTTTTTTCTATT... | pathogenic | 214,938 |
The genetic variant at chromosome 13, position 48380146, affecting gene RB1 (RB transcriptional corepressor 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | CTATGACATGACTGTACACTATCGTAGACTTTATAAATACTACACTTAGGCTAAACTAATTTCATAAACATTTTTTCTTTCTTCAGTAGTAAATTAACCATAGCTCACTGTAACTTTTTTACTTTATAAATCTTCAGTTTGTAAGAAACTTTTGACTCTTATAACACTTAGCTTAAAACACAAACACCTTATACAGCTGTACAAAAATATTTTCTTTCTTTATAATCCTTATTCTGTACACTTTTTTCTATTTAAAAATTTTTTCAATTTCATAAAGATTTTTGCCAAAAACAAAGGCAAACACACACATTAGCCTAGGC... | CTATGACATGACTGTACACTATCGTAGACTTTATAAATACTACACTTAGGCTAAACTAATTTCATAAACATTTTTTCTTTCTTCAGTAGTAAATTAACCATAGCTCACTGTAACTTTTTTACTTTATAAATCTTCAGTTTGTAAGAAACTTTTGACTCTTATAACACTTAGCTTAAAACACAAACACCTTATACAGCTGTACAAAAATATTTTCTTTCTTTATAATCCTTATTCTGTACACTTTTTTCTATTTAAAAATTTTTTCAATTTCATAAAGATTTTTGCCAAAAACAAAGGCAAACACACACATTAGCCTAGGC... | benign | 214,942 |
Does the genetic variant at chromosome 13, position 48380178, impacting gene RB1 (RB transcriptional corepressor 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | ATAAATACTACACTTAGGCTAAACTAATTTCATAAACATTTTTTCTTTCTTCAGTAGTAAATTAACCATAGCTCACTGTAACTTTTTTACTTTATAAATCTTCAGTTTGTAAGAAACTTTTGACTCTTATAACACTTAGCTTAAAACACAAACACCTTATACAGCTGTACAAAAATATTTTCTTTCTTTATAATCCTTATTCTGTACACTTTTTTCTATTTAAAAATTTTTTCAATTTCATAAAGATTTTTGCCAAAAACAAAGGCAAACACACACATTAGCCTAGGCCTACACAGGATCAGGATTAACAATACCACTGT... | ATAAATACTACACTTAGGCTAAACTAATTTCATAAACATTTTTTCTTTCTTCAGTAGTAAATTAACCATAGCTCACTGTAACTTTTTTACTTTATAAATCTTCAGTTTGTAAGAAACTTTTGACTCTTATAACACTTAGCTTAAAACACAAACACCTTATACAGCTGTACAAAAATATTTTCTTTCTTTATAATCCTTATTCTGTACACTTTTTTCTATTTAAAAATTTTTTCAATTTCATAAAGATTTTTGCCAAAAACAAAGGCAAACACACACATTAGCCTAGGCCTACACAGGATCAGGATTAACAATACCACTGT... | pathogenic | 214,949 |
Evaluate if the mutation on chromosome 13 at position 48380190 in RB1 (RB transcriptional corepressor 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | CTTAGGCTAAACTAATTTCATAAACATTTTTTCTTTCTTCAGTAGTAAATTAACCATAGCTCACTGTAACTTTTTTACTTTATAAATCTTCAGTTTGTAAGAAACTTTTGACTCTTATAACACTTAGCTTAAAACACAAACACCTTATACAGCTGTACAAAAATATTTTCTTTCTTTATAATCCTTATTCTGTACACTTTTTTCTATTTAAAAATTTTTTCAATTTCATAAAGATTTTTGCCAAAAACAAAGGCAAACACACACATTAGCCTAGGCCTACACAGGATCAGGATTAACAATACCACTGTCTTCTGCCTCCA... | CTTAGGCTAAACTAATTTCATAAACATTTTTTCTTTCTTCAGTAGTAAATTAACCATAGCTCACTGTAACTTTTTTACTTTATAAATCTTCAGTTTGTAAGAAACTTTTGACTCTTATAACACTTAGCTTAAAACACAAACACCTTATACAGCTGTACAAAAATATTTTCTTTCTTTATAATCCTTATTCTGTACACTTTTTTCTATTTAAAAATTTTTTCAATTTCATAAAGATTTTTGCCAAAAACAAAGGCAAACACACACATTAGCCTAGGCCTACACAGGATCAGGATTAACAATACCACTGTCTTCTGCCTCCA... | pathogenic | 214,950 |
A genetic variant at chromosome 13, position 48381227, affecting gene RB1 (RB transcriptional corepressor 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AACCTATCTTTAGTATGAATGATATAAACTGAAATGGAGTTAAGGAAATCCAGGTACTGGACCTACCCTCTTGTTAATTTACTTGGGAATGTTAATCACCACTTAATACTTAAGTTGTGAGTTTTAGACAAGCTAGCTTTTGTGTTGTCTTGGCGGCCATATTTGTAAGAAGGGTGAGAAGTATGTTTTAAGAAAAGGCTTTTTAAAAAATTTTAGTAATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGC... | AACCTATCTTTAGTATGAATGATATAAACTGAAATGGAGTTAAGGAAATCCAGGTACTGGACCTACCCTCTTGTTAATTTACTTGGGAATGTTAATCACCACTTAATACTTAAGTTGTGAGTTTTAGACAAGCTAGCTTTTGTGTTGTCTTGGCGGCCATATTTGTAAGAAGGGTGAGAAGTATGTTTTAAGAAAAGGCTTTTTAAAAAATTTTAGTAATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGC... | benign | 214,964 |
Mutation found at chromosome 13 position 48381321, gene RB1 (RB transcriptional corepressor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | ATCACCACTTAATACTTAAGTTGTGAGTTTTAGACAAGCTAGCTTTTGTGTTGTCTTGGCGGCCATATTTGTAAGAAGGGTGAGAAGTATGTTTTAAGAAAAGGCTTTTTAAAAAATTTTAGTAATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGCAAAACAGTGAGACTCCATCTCAAAAAAAAAAAAAATTTCATAATTGTGATTTTCTAAAATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTGTA... | ATCACCACTTAATACTTAAGTTGTGAGTTTTAGACAAGCTAGCTTTTGTGTTGTCTTGGCGGCCATATTTGTAAGAAGGGTGAGAAGTATGTTTTAAGAAAAGGCTTTTTAAAAAATTTTAGTAATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGCAAAACAGTGAGACTCCATCTCAAAAAAAAAAAAAATTTCATAATTGTGATTTTCTAAAATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTGTA... | pathogenic | 214,976 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 48381335, gene RB1 (RB transcriptional corepressor 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | CTTAAGTTGTGAGTTTTAGACAAGCTAGCTTTTGTGTTGTCTTGGCGGCCATATTTGTAAGAAGGGTGAGAAGTATGTTTTAAGAAAAGGCTTTTTAAAAAATTTTAGTAATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGCAAAACAGTGAGACTCCATCTCAAAAAAAAAAAAAATTTCATAATTGTGATTTTCTAAAATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTGTAGCGATACAAACTTG... | CTTAAGTTGTGAGTTTTAGACAAGCTAGCTTTTGTGTTGTCTTGGCGGCCATATTTGTAAGAAGGGTGAGAAGTATGTTTTAAGAAAAGGCTTTTTAAAAAATTTTAGTAATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGCAAAACAGTGAGACTCCATCTCAAAAAAAAAAAAAATTTCATAATTGTGATTTTCTAAAATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTGTAGCGATACAAACTTG... | pathogenic | 214,981 |
For chromosome 13, position 48381376, gene RB1 (RB transcriptional corepressor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinoblastoma'] | TTGGCGGCCATATTTGTAAGAAGGGTGAGAAGTATGTTTTAAGAAAAGGCTTTTTAAAAAATTTTAGTAATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGCAAAACAGTGAGACTCCATCTCAAAAAAAAAAAAAATTTCATAATTGTGATTTTCTAAAATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTGTAGCGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATGCTTAAA... | TTGGCGGCCATATTTGTAAGAAGGGTGAGAAGTATGTTTTAAGAAAAGGCTTTTTAAAAAATTTTAGTAATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGCAAAACAGTGAGACTCCATCTCAAAAAAAAAAAAAATTTCATAATTGTGATTTTCTAAAATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTGTAGCGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATGCTTAAA... | pathogenic | 214,988 |
Is the genetic variant on chromosome 13, position 48453000, gene RB1 (RB transcriptional corepressor 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | AGTTCATTCATGATTTGGCTCTTTGCTTGCTTATTGTTGGTGTATAGGAATGCTAGCGATTATTGCACATTGATTTTGTATCTGAGAGTTTGCTGAAGTTGCTTATCAGCTTAAGAATGTTTTGGGTTAAGATGATAATTTGACCTCCTCTCTTCCTATATGAATATCTTTGTTTCTTTCTCTTGCCTGATTGCCCTGGCCAGATCTTCCAATACTATGTTGAATAGGATTGGTGAGAGAGAGTATCCTTGTCTTGTGCTGGTTTTCAAGGGGAATGCTTCCAGCTTTTCCCCATTCAGTATTATGTTGGCTGTGGATTT... | AGTTCATTCATGATTTGGCTCTTTGCTTGCTTATTGTTGGTGTATAGGAATGCTAGCGATTATTGCACATTGATTTTGTATCTGAGAGTTTGCTGAAGTTGCTTATCAGCTTAAGAATGTTTTGGGTTAAGATGATAATTTGACCTCCTCTCTTCCTATATGAATATCTTTGTTTCTTTCTCTTGCCTGATTGCCCTGGCCAGATCTTCCAATACTATGTTGAATAGGATTGGTGAGAGAGAGTATCCTTGTCTTGTGCTGGTTTTCAAGGGGAATGCTTCCAGCTTTTCCCCATTCAGTATTATGTTGGCTGTGGATTT... | pathogenic | 215,010 |
Variant on chromosome 13, at position 48453019, affecting RB1 (RB transcriptional corepressor 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | TCTTTGCTTGCTTATTGTTGGTGTATAGGAATGCTAGCGATTATTGCACATTGATTTTGTATCTGAGAGTTTGCTGAAGTTGCTTATCAGCTTAAGAATGTTTTGGGTTAAGATGATAATTTGACCTCCTCTCTTCCTATATGAATATCTTTGTTTCTTTCTCTTGCCTGATTGCCCTGGCCAGATCTTCCAATACTATGTTGAATAGGATTGGTGAGAGAGAGTATCCTTGTCTTGTGCTGGTTTTCAAGGGGAATGCTTCCAGCTTTTCCCCATTCAGTATTATGTTGGCTGTGGATTTGTCATAGATGGCTCTTTGA... | TCTTTGCTTGCTTATTGTTGGTGTATAGGAATGCTAGCGATTATTGCACATTGATTTTGTATCTGAGAGTTTGCTGAAGTTGCTTATCAGCTTAAGAATGTTTTGGGTTAAGATGATAATTTGACCTCCTCTCTTCCTATATGAATATCTTTGTTTCTTTCTCTTGCCTGATTGCCCTGGCCAGATCTTCCAATACTATGTTGAATAGGATTGGTGAGAGAGAGTATCCTTGTCTTGTGCTGGTTTTCAAGGGGAATGCTTCCAGCTTTTCCCCATTCAGTATTATGTTGGCTGTGGATTTGTCATAGATGGCTCTTTGA... | pathogenic | 215,016 |
The mutation in gene RB1 (RB transcriptional corepressor 1) at chromosome 13, position 48456240—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | CAAGCTATCTAATCCCAAAGTCCAGGCTCTTAATCACTCTAACTACATTGCCTTTCACAGAAATGTGCCTAATATTTTGTTTCTGTTTAATTCTGTGTAGGAACTGACATTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTG... | CAAGCTATCTAATCCCAAAGTCCAGGCTCTTAATCACTCTAACTACATTGCCTTTCACAGAAATGTGCCTAATATTTTGTTTCTGTTTAATTCTGTGTAGGAACTGACATTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTG... | pathogenic | 215,037 |
Determine whether the variant at chromosome 13, position 48456272, in gene RB1 (RB transcriptional corepressor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Retinoblastoma'] | ATCACTCTAACTACATTGCCTTTCACAGAAATGTGCCTAATATTTTGTTTCTGTTTAATTCTGTGTAGGAACTGACATTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTC... | ATCACTCTAACTACATTGCCTTTCACAGAAATGTGCCTAATATTTTGTTTCTGTTTAATTCTGTGTAGGAACTGACATTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTC... | pathogenic | 215,042 |
Chromosome 13, position 48456323, gene RB1 (RB transcriptional corepressor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | TGTTTAATTCTGTGTAGGAACTGACATTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTCCCCTCATAGAGCTTACATTCTGGAGGAGGAACACAGGCAATGAACAAGTAA... | TGTTTAATTCTGTGTAGGAACTGACATTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTCCCCTCATAGAGCTTACATTCTGGAGGAGGAACACAGGCAATGAACAAGTAA... | pathogenic | 215,054 |
Classify the chromosome 13 variant at position 48456342 affecting gene RB1 (RB transcriptional corepressor 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinoblastoma'] | ACTGACATTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTCCCCTCATAGAGCTTACATTCTGGAGGAGGAACACAGGCAATGAACAAGTAAACCAAGATGTAAGATGATT... | ACTGACATTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTCCCCTCATAGAGCTTACATTCTGGAGGAGGAACACAGGCAATGAACAAGTAAACCAAGATGTAAGATGATT... | pathogenic | 215,056 |
A genetic alteration at chromosome 13, position 48459689, in gene RB1 (RB transcriptional corepressor 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | ACCTGTAGGCCAGTGCCAAGCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGT... | ACCTGTAGGCCAGTGCCAAGCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGT... | pathogenic | 215,068 |
Does the variant on chromosome 13 at location 48459720 affecting gene RB1 (RB transcriptional corepressor 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinoblastoma'] | CCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCACTGGGGAGGGTG... | CCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCACTGGGGAGGGTG... | pathogenic | 215,076 |
Chromosome 13, position 48465020, gene RB1 (RB transcriptional corepressor 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Retinoblastoma'] | TGTACACTTGGCTGTAGGATGCCAAGCAAAAATGATTATTTGGCATTCTTGGCAATAGTAGGTAAGAGCAAGAATGTTGCAGAAGCAATGAGTACTTAAATTAGGCTATAAAGTTCATACAAATAAAGAAAATCTGACATTTTAAAGTCACAGGGAATCATTTTCAGATCTTATTTTTGCATTTAAAATATCTTTTATTGAAATGTAATACACATATGTAAAAACCTGTGTATCAAAAGTATACATTCTAACAAAAATTCATCAACTGAGCTTAGTTATATAACCAGCATCCAGATCAAGAAACAAAACATTGTCAGCAA... | TGTACACTTGGCTGTAGGATGCCAAGCAAAAATGATTATTTGGCATTCTTGGCAATAGTAGGTAAGAGCAAGAATGTTGCAGAAGCAATGAGTACTTAAATTAGGCTATAAAGTTCATACAAATAAAGAAAATCTGACATTTTAAAGTCACAGGGAATCATTTTCAGATCTTATTTTTGCATTTAAAATATCTTTTATTGAAATGTAATACACATATGTAAAAACCTGTGTATCAAAAGTATACATTCTAACAAAAATTCATCAACTGAGCTTAGTTATATAACCAGCATCCAGATCAAGAAACAAAACATTGTCAGCAA... | pathogenic | 215,122 |
Does the variant impacting RB1 (RB transcriptional corepressor 1) on chromosome 13, position 48465022, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinoblastoma'] | TACACTTGGCTGTAGGATGCCAAGCAAAAATGATTATTTGGCATTCTTGGCAATAGTAGGTAAGAGCAAGAATGTTGCAGAAGCAATGAGTACTTAAATTAGGCTATAAAGTTCATACAAATAAAGAAAATCTGACATTTTAAAGTCACAGGGAATCATTTTCAGATCTTATTTTTGCATTTAAAATATCTTTTATTGAAATGTAATACACATATGTAAAAACCTGTGTATCAAAAGTATACATTCTAACAAAAATTCATCAACTGAGCTTAGTTATATAACCAGCATCCAGATCAAGAAACAAAACATTGTCAGCAACA... | TACACTTGGCTGTAGGATGCCAAGCAAAAATGATTATTTGGCATTCTTGGCAATAGTAGGTAAGAGCAAGAATGTTGCAGAAGCAATGAGTACTTAAATTAGGCTATAAAGTTCATACAAATAAAGAAAATCTGACATTTTAAAGTCACAGGGAATCATTTTCAGATCTTATTTTTGCATTTAAAATATCTTTTATTGAAATGTAATACACATATGTAAAAACCTGTGTATCAAAAGTATACATTCTAACAAAAATTCATCAACTGAGCTTAGTTATATAACCAGCATCCAGATCAAGAAACAAAACATTGTCAGCAACA... | pathogenic | 215,124 |
Variant on chromosome 13, at position 48465203, affecting RB1 (RB transcriptional corepressor 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinoblastoma'] | TAAAATATCTTTTATTGAAATGTAATACACATATGTAAAAACCTGTGTATCAAAAGTATACATTCTAACAAAAATTCATCAACTGAGCTTAGTTATATAACCAGCATCCAGATCAAGAAACAAAACATTGTCAGCAACACATAAGACTCTCTTACATGCTCTTCCAGTCACCATAGCCTCCTTACCACCACCACCAAGTGTGTTCAATATTATTTTATCTAATAGTTTGAAACATTTTCACACCTGGCTTTTTAAAGTGCTAGTTATACAAAATTAACTGATTCTACTTTCAACTTTTCTGGGAAACATTTAAGGGACAA... | TAAAATATCTTTTATTGAAATGTAATACACATATGTAAAAACCTGTGTATCAAAAGTATACATTCTAACAAAAATTCATCAACTGAGCTTAGTTATATAACCAGCATCCAGATCAAGAAACAAAACATTGTCAGCAACACATAAGACTCTCTTACATGCTCTTCCAGTCACCATAGCCTCCTTACCACCACCACCAAGTGTGTTCAATATTATTTTATCTAATAGTTTGAAACATTTTCACACCTGGCTTTTTAAAGTGCTAGTTATACAAAATTAACTGATTCTACTTTCAACTTTTCTGGGAAACATTTAAGGGACAA... | pathogenic | 215,150 |
A genetic variant at chromosome 13, position 48465241, affecting gene RB1 (RB transcriptional corepressor 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | AAACCTGTGTATCAAAAGTATACATTCTAACAAAAATTCATCAACTGAGCTTAGTTATATAACCAGCATCCAGATCAAGAAACAAAACATTGTCAGCAACACATAAGACTCTCTTACATGCTCTTCCAGTCACCATAGCCTCCTTACCACCACCACCAAGTGTGTTCAATATTATTTTATCTAATAGTTTGAAACATTTTCACACCTGGCTTTTTAAAGTGCTAGTTATACAAAATTAACTGATTCTACTTTCAACTTTTCTGGGAAACATTTAAGGGACAAGAGCCAAAGTTAGGGTAATTTACAAACCAGGTGATCAG... | AAACCTGTGTATCAAAAGTATACATTCTAACAAAAATTCATCAACTGAGCTTAGTTATATAACCAGCATCCAGATCAAGAAACAAAACATTGTCAGCAACACATAAGACTCTCTTACATGCTCTTCCAGTCACCATAGCCTCCTTACCACCACCACCAAGTGTGTTCAATATTATTTTATCTAATAGTTTGAAACATTTTCACACCTGGCTTTTTAAAGTGCTAGTTATACAAAATTAACTGATTCTACTTTCAACTTTTCTGGGAAACATTTAAGGGACAAGAGCCAAAGTTAGGGTAATTTACAAACCAGGTGATCAG... | pathogenic | 215,158 |
A genetic variant at chromosome 13, position 48465307, affecting gene RB1 (RB transcriptional corepressor 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Retinoblastoma'] | CATCCAGATCAAGAAACAAAACATTGTCAGCAACACATAAGACTCTCTTACATGCTCTTCCAGTCACCATAGCCTCCTTACCACCACCACCAAGTGTGTTCAATATTATTTTATCTAATAGTTTGAAACATTTTCACACCTGGCTTTTTAAAGTGCTAGTTATACAAAATTAACTGATTCTACTTTCAACTTTTCTGGGAAACATTTAAGGGACAAGAGCCAAAGTTAGGGTAATTTACAAACCAGGTGATCAGTCCTGAATAATTGAGCCTTGGTGATTTGCATTTTGTTCTTTAAACACACTTTGGGTTAAACACTTC... | CATCCAGATCAAGAAACAAAACATTGTCAGCAACACATAAGACTCTCTTACATGCTCTTCCAGTCACCATAGCCTCCTTACCACCACCACCAAGTGTGTTCAATATTATTTTATCTAATAGTTTGAAACATTTTCACACCTGGCTTTTTAAAGTGCTAGTTATACAAAATTAACTGATTCTACTTTCAACTTTTCTGGGAAACATTTAAGGGACAAGAGCCAAAGTTAGGGTAATTTACAAACCAGGTGATCAGTCCTGAATAATTGAGCCTTGGTGATTTGCATTTTGTTCTTTAAACACACTTTGGGTTAAACACTTC... | pathogenic | 215,172 |
Does the genetic variant at chromosome 13, position 48465342, impacting gene RB1 (RB transcriptional corepressor 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | CATAAGACTCTCTTACATGCTCTTCCAGTCACCATAGCCTCCTTACCACCACCACCAAGTGTGTTCAATATTATTTTATCTAATAGTTTGAAACATTTTCACACCTGGCTTTTTAAAGTGCTAGTTATACAAAATTAACTGATTCTACTTTCAACTTTTCTGGGAAACATTTAAGGGACAAGAGCCAAAGTTAGGGTAATTTACAAACCAGGTGATCAGTCCTGAATAATTGAGCCTTGGTGATTTGCATTTTGTTCTTTAAACACACTTTGGGTTAAACACTTCATGTAGACTTTCAAACTGAGCTCAGTATGGAAAGA... | CATAAGACTCTCTTACATGCTCTTCCAGTCACCATAGCCTCCTTACCACCACCACCAAGTGTGTTCAATATTATTTTATCTAATAGTTTGAAACATTTTCACACCTGGCTTTTTAAAGTGCTAGTTATACAAAATTAACTGATTCTACTTTCAACTTTTCTGGGAAACATTTAAGGGACAAGAGCCAAAGTTAGGGTAATTTACAAACCAGGTGATCAGTCCTGAATAATTGAGCCTTGGTGATTTGCATTTTGTTCTTTAAACACACTTTGGGTTAAACACTTCATGTAGACTTTCAAACTGAGCTCAGTATGGAAAGA... | pathogenic | 215,178 |
Located at chromosome 13 position 48465346, the variant affecting gene RB1 (RB transcriptional corepressor 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | AGACTCTCTTACATGCTCTTCCAGTCACCATAGCCTCCTTACCACCACCACCAAGTGTGTTCAATATTATTTTATCTAATAGTTTGAAACATTTTCACACCTGGCTTTTTAAAGTGCTAGTTATACAAAATTAACTGATTCTACTTTCAACTTTTCTGGGAAACATTTAAGGGACAAGAGCCAAAGTTAGGGTAATTTACAAACCAGGTGATCAGTCCTGAATAATTGAGCCTTGGTGATTTGCATTTTGTTCTTTAAACACACTTTGGGTTAAACACTTCATGTAGACTTTCAAACTGAGCTCAGTATGGAAAGAAATA... | AGACTCTCTTACATGCTCTTCCAGTCACCATAGCCTCCTTACCACCACCACCAAGTGTGTTCAATATTATTTTATCTAATAGTTTGAAACATTTTCACACCTGGCTTTTTAAAGTGCTAGTTATACAAAATTAACTGATTCTACTTTCAACTTTTCTGGGAAACATTTAAGGGACAAGAGCCAAAGTTAGGGTAATTTACAAACCAGGTGATCAGTCCTGAATAATTGAGCCTTGGTGATTTGCATTTTGTTCTTTAAACACACTTTGGGTTAAACACTTCATGTAGACTTTCAAACTGAGCTCAGTATGGAAAGAAATA... | pathogenic | 215,179 |
Chromosome 13, position 48473387, gene RB1 (RB transcriptional corepressor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Retinoblastoma'] | TCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAATATAAATAAAAAAAAAAAAAAGAAAATCTATTTACTTGGATGGGTTTACAGATTTAGTTATCAGCTTTCCTGACTGTTAGGTATCTTCTTTT... | TCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAATATAAATAAAAAAAAAAAAAAGAAAATCTATTTACTTGGATGGGTTTACAGATTTAGTTATCAGCTTTCCTGACTGTTAGGTATCTTCTTTT... | pathogenic | 215,194 |
Is the genetic variant on chromosome 13, position 48473390, gene RB1 (RB transcriptional corepressor 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_retinoblastoma', 'Retinoblastoma'] | TAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAATATAAATAAAAAAAAAAAAAAGAAAATCTATTTACTTGGATGGGTTTACAGATTTAGTTATCAGCTTTCCTGACTGTTAGGTATCTTCTTTTGAG... | TAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAATATAAATAAAAAAAAAAAAAAGAAAATCTATTTACTTGGATGGGTTTACAGATTTAGTTATCAGCTTTCCTGACTGTTAGGTATCTTCTTTTGAG... | pathogenic | 215,195 |
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