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 |
|---|---|---|---|---|---|
Considering the genetic mutation at chromosome 13, position 24882493, impacting CPAP: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTGGTGTTTATCATTCATATAAATGTCTTTATAGTTTTACTACATATGAATGCATCCATAAATGACATGGTATTTTTTAATGTATCTGCTGTCACACAATTTTTATTTTCTATTTTATTTGCTCTTTAATCCATGTTGGTATGTATAACTCTATTCACTTTTACTGCTATATCTGTGTACATAATTTATCCTGATATTCCATTACCAGTTTTTTTCTCATAAATGTTCCTCTTTAGGAGCCTTGTATACATGAGCGGCTTTCTAGTACATATACATAGTGATGGAATTTGCTGGGCCATGGGGTTGCTTTTTGACTTTTA... | TTGGTGTTTATCATTCATATAAATGTCTTTATAGTTTTACTACATATGAATGCATCCATAAATGACATGGTATTTTTTAATGTATCTGCTGTCACACAATTTTTATTTTCTATTTTATTTGCTCTTTAATCCATGTTGGTATGTATAACTCTATTCACTTTTACTGCTATATCTGTGTACATAATTTATCCTGATATTCCATTACCAGTTTTTTTCTCATAAATGTTCCTCTTTAGGAGCCTTGTATACATGAGCGGCTTTCTAGTACATATACATAGTGATGGAATTTGCTGGGCCATGGGGTTGCTTTTTGACTTTTA... | benign | 207,458 |
Considering the variant on chromosome 13, location 24884094, involving gene CPAP, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAGATACATCTATATAGATAGATACATCTATATAGATAGATACATCTATATAGATATATAGATACATCTATATAGATAGATATAGATACATCTATATAGATAGATATATAGATACATCTATATATAGATACATCTGTACTTATATTCTTCAAAAAGTTTTATTTTTCATATTCAGTTAAGTCACCTGGAATTGATAGATTTCATTAACAAAACCTGATTCATAGTATATGT... | ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAGATACATCTATATAGATAGATACATCTATATAGATAGATACATCTATATAGATATATAGATACATCTATATAGATAGATATAGATACATCTATATAGATAGATATATAGATACATCTATATATAGATACATCTGTACTTATATTCTTCAAAAAGTTTTATTTTTCATATTCAGTTAAGTCACCTGGAATTGATAGATTTCATTAACAAAACCTGATTCATAGTATATGT... | benign | 207,468 |
Clinical classification of chromosome 13, position 24884190, gene CPAP: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Microcephaly_6,_primary,_autosomal_recessive', 'Seckel_syndrome_4'] | ATCTATATAGATAGATACATCTATATAGATAGATACATCTATATAGATATATAGATACATCTATATAGATAGATATAGATACATCTATATAGATAGATATATAGATACATCTATATATAGATACATCTGTACTTATATTCTTCAAAAAGTTTTATTTTTCATATTCAGTTAAGTCACCTGGAATTGATAGATTTCATTAACAAAACCTGATTCATAGTATATGTGACAGGTAAGGTCTATCTAGACCAATCTGTAATTATTTATTATATAAATTTACAAGTAAGTAAGTAAGTGACTTGCCCATCCTTCAGGGACATCTT... | ATCTATATAGATAGATACATCTATATAGATAGATACATCTATATAGATATATAGATACATCTATATAGATAGATATAGATACATCTATATAGATAGATATATAGATACATCTATATATAGATACATCTGTACTTATATTCTTCAAAAAGTTTTATTTTTCATATTCAGTTAAGTCACCTGGAATTGATAGATTTCATTAACAAAACCTGATTCATAGTATATGTGACAGGTAAGGTCTATCTAGACCAATCTGTAATTATTTATTATATAAATTTACAAGTAAGTAAGTAAGTGACTTGCCCATCCTTCAGGGACATCTT... | pathogenic | 207,469 |
The genetic variant at chromosome 13, position 24884402, affecting gene CPAP: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | CATAGTATATGTGACAGGTAAGGTCTATCTAGACCAATCTGTAATTATTTATTATATAAATTTACAAGTAAGTAAGTAAGTGACTTGCCCATCCTTCAGGGACATCTTGCTTCCATGAGGCTACAGTAATCTCACTGTGGTAACATCAGGGTAGCTGTGGTCCATGGGTTAACACTGGCTAGTCATCGTTCATGCCCCCCTCCACTCTCAAGTATCCCATTTTGAGACATTACATTACAAAGTCAGCCTTGTTATAACTGCTTTCTCTTCACCATGATTACTACCTGTTGTGTGTGACCTATTTATATTCATCCACTGTT... | CATAGTATATGTGACAGGTAAGGTCTATCTAGACCAATCTGTAATTATTTATTATATAAATTTACAAGTAAGTAAGTAAGTGACTTGCCCATCCTTCAGGGACATCTTGCTTCCATGAGGCTACAGTAATCTCACTGTGGTAACATCAGGGTAGCTGTGGTCCATGGGTTAACACTGGCTAGTCATCGTTCATGCCCCCCTCCACTCTCAAGTATCCCATTTTGAGACATTACATTACAAAGTCAGCCTTGTTATAACTGCTTTCTCTTCACCATGATTACTACCTGTTGTGTGTGACCTATTTATATTCATCCACTGTT... | pathogenic | 207,470 |
Does the chromosome 13 mutation at position 24885662 within gene CPAP classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Seckel_syndrome_4'] | TTGTGTTCTTCCTTTTGGTTGTTATATTAAAAGGGACCCTTCTTTCACTAATTTAAAAACCATCTGAGTGTTTGTTTGCTCTGTATCAGGTGGGGAAGAGAGTTAGTTATTCCTGGGAAGGGGCATGATCAGACTTAAAAATCTGTTTTGAAAGAATGGAACAAAAAAGGAGAATGTGAAAAATAATTCACATCAAGTTGACTGACATGCCTGTGGGACATTCATTCAAACTGAACCCCCTAATATGGGTGTCACATATCATCAGAAACGCAAGGCTGGGGCACCTTCTGAGCACAGATGAACAGGTGTCACACTGAGTG... | TTGTGTTCTTCCTTTTGGTTGTTATATTAAAAGGGACCCTTCTTTCACTAATTTAAAAACCATCTGAGTGTTTGTTTGCTCTGTATCAGGTGGGGAAGAGAGTTAGTTATTCCTGGGAAGGGGCATGATCAGACTTAAAAATCTGTTTTGAAAGAATGGAACAAAAAAGGAGAATGTGAAAAATAATTCACATCAAGTTGACTGACATGCCTGTGGGACATTCATTCAAACTGAACCCCCTAATATGGGTGTCACATATCATCAGAAACGCAAGGCTGGGGCACCTTCTGAGCACAGATGAACAGGTGTCACACTGAGTG... | pathogenic | 207,476 |
Determine whether the variant at chromosome 13, position 24889370, in gene CPAP (centrosome assembly and centriole elongation protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Lissencephaly', 'Microcephaly', 'Microcephaly_6,_primary,_autosomal_recessive'] | CCTGTAGGAACTGGGCCACACAGCAGGAGATGAGCAGCGGGTGGGCGAGCCAGCGAAGCTTCATCTGTATTTACAGCAGCTCCCCATCACTCGCATTACCACCTGAGCTCCACCTCCTGTCAGATCAGCAGTGGCATTAGATTCTCATAGGAGCAAGAACCCTATTGTGAACTGCATATGCGAGGGATCCAGGTTGCACGCTCCTTAGAGTATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGATGGGACCATCTAATTGCAGGAAAACAAGCTCAGGGCTCCCCCTGATTCTACATTATGGTGAGTTG... | CCTGTAGGAACTGGGCCACACAGCAGGAGATGAGCAGCGGGTGGGCGAGCCAGCGAAGCTTCATCTGTATTTACAGCAGCTCCCCATCACTCGCATTACCACCTGAGCTCCACCTCCTGTCAGATCAGCAGTGGCATTAGATTCTCATAGGAGCAAGAACCCTATTGTGAACTGCATATGCGAGGGATCCAGGTTGCACGCTCCTTAGAGTATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGATGGGACCATCTAATTGCAGGAAAACAAGCTCAGGGCTCCCCCTGATTCTACATTATGGTGAGTTG... | pathogenic | 207,477 |
A genetic alteration at chromosome 13, position 24892872, in gene CPAP (centrosome assembly and centriole elongation protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CCCTCCATTCGCTGCCTGGACCCAGCTCCTCTCACTTCACCAAGTATGGTGCTTCTGCAATTCTTCCACTTCCTCCTGCGTCAATATTTTCCTCTCCACTGAGTCAGTCCAACCAATATACAAACACCTGTTAATTTTACCGTCTTAAAAAAAAAATTCCCCTATGGCCACTACCCTCATGTCCTTAATTTACTGCAAAACTATTAAACAAAGCTGTTATCCGCTCCCAGCCGATCAGGCTTTCCTCTTCAACACTCCAGAGAAACAGTCCTTCTCAAGGCCCACAGTTCCTTCTCCCTGGTAAACTCCATGGCCGATTT... | CCCTCCATTCGCTGCCTGGACCCAGCTCCTCTCACTTCACCAAGTATGGTGCTTCTGCAATTCTTCCACTTCCTCCTGCGTCAATATTTTCCTCTCCACTGAGTCAGTCCAACCAATATACAAACACCTGTTAATTTTACCGTCTTAAAAAAAAAATTCCCCTATGGCCACTACCCTCATGTCCTTAATTTACTGCAAAACTATTAAACAAAGCTGTTATCCGCTCCCAGCCGATCAGGCTTTCCTCTTCAACACTCCAGAGAAACAGTCCTTCTCAAGGCCCACAGTTCCTTCTCCCTGGTAAACTCCATGGCCGATTT... | benign | 207,480 |
Assess the variant on chromosome 13, position 24892882, impacting CPAP (centrosome assembly and centriole elongation protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GCTGCCTGGACCCAGCTCCTCTCACTTCACCAAGTATGGTGCTTCTGCAATTCTTCCACTTCCTCCTGCGTCAATATTTTCCTCTCCACTGAGTCAGTCCAACCAATATACAAACACCTGTTAATTTTACCGTCTTAAAAAAAAAATTCCCCTATGGCCACTACCCTCATGTCCTTAATTTACTGCAAAACTATTAAACAAAGCTGTTATCCGCTCCCAGCCGATCAGGCTTTCCTCTTCAACACTCCAGAGAAACAGTCCTTCTCAAGGCCCACAGTTCCTTCTCCCTGGTAAACTCCATGGCCGATTTCAGTCCTCCT... | GCTGCCTGGACCCAGCTCCTCTCACTTCACCAAGTATGGTGCTTCTGCAATTCTTCCACTTCCTCCTGCGTCAATATTTTCCTCTCCACTGAGTCAGTCCAACCAATATACAAACACCTGTTAATTTTACCGTCTTAAAAAAAAAATTCCCCTATGGCCACTACCCTCATGTCCTTAATTTACTGCAAAACTATTAAACAAAGCTGTTATCCGCTCCCAGCCGATCAGGCTTTCCTCTTCAACACTCCAGAGAAACAGTCCTTCTCAAGGCCCACAGTTCCTTCTCCCTGGTAAACTCCATGGCCGATTTCAGTCCTCCT... | benign | 207,481 |
The chromosome 13, position 24905919 genetic variant in gene CPAP (centrosome assembly and centriole elongation protein): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Microcephaly_6,_primary,_autosomal_recessive'] | AAAGGTATAACTGAGTCACTGCATATTTTTTCCCAACTTACAGACCCAAACGTACCTGAGTTTTTCCAAGGCACTTTCTCGTTCAATGCGAAGTTTAGCTAAAGATGCGTTCTCAGCTTTAAACTTTTCTATTTCTGTTTCCAATTCAATAATTTTCTCTCTCAAAACCTGGGATCGAGCATTGTCACCTATGAAATAGGCCATAAATACTGAACTTCAAAAAAGGCATTACTGCAGCAAAAACACTAGCTAGCTAGTAACACTAAGAGCCAAGAATATGGCAAACATCTGTGCTATTAAAATGCATTAGAAACAATGCT... | AAAGGTATAACTGAGTCACTGCATATTTTTTCCCAACTTACAGACCCAAACGTACCTGAGTTTTTCCAAGGCACTTTCTCGTTCAATGCGAAGTTTAGCTAAAGATGCGTTCTCAGCTTTAAACTTTTCTATTTCTGTTTCCAATTCAATAATTTTCTCTCTCAAAACCTGGGATCGAGCATTGTCACCTATGAAATAGGCCATAAATACTGAACTTCAAAAAAGGCATTACTGCAGCAAAAACACTAGCTAGCTAGTAACACTAAGAGCCAAGAATATGGCAAACATCTGTGCTATTAAAATGCATTAGAAACAATGCT... | pathogenic | 207,487 |
Variant in CPAP (centrosome assembly and centriole elongation protein), chromosome 13, position 24906603—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Seckel_syndrome_4'] | CCACAAGGCTAAAGAAATGAGCTAAGTTATACAACTCTGTCATATTAAAACTACATAGAAAAAATGACTGGAATGAAATATCCCAAAATGGCATAGCAGTTACTTTTGGGTAGTTAAGTTGTAAATATTTTTGCTTCTATGCTTTTTAAGCTTCCAAACTTTGTACAAAAAAATTACTTTTAAAATCAGAATTTTTGAAAATTAACGTTATAATTTCTATTTTAATTTCTATTTTAAAGCACCTATGCTCTGCTAGTTTATAATATAATATAATGGAAAGGAATCTTTCAGGGTGAGTTTAAAAAGTCCGTTACATCAAC... | CCACAAGGCTAAAGAAATGAGCTAAGTTATACAACTCTGTCATATTAAAACTACATAGAAAAAATGACTGGAATGAAATATCCCAAAATGGCATAGCAGTTACTTTTGGGTAGTTAAGTTGTAAATATTTTTGCTTCTATGCTTTTTAAGCTTCCAAACTTTGTACAAAAAAATTACTTTTAAAATCAGAATTTTTGAAAATTAACGTTATAATTTCTATTTTAATTTCTATTTTAAAGCACCTATGCTCTGCTAGTTTATAATATAATATAATGGAAAGGAATCTTTCAGGGTGAGTTTAAAAAGTCCGTTACATCAAC... | pathogenic | 207,497 |
Clinical classification of chromosome 13, position 24907138, gene CPAP (centrosome assembly and centriole elongation protein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic | AAGGGGTACTTGAACCAGGTCTGGGGAAGAAAGGAAACGTAGAAGCTTTGATGTTATCTCACTTTATTAAAAACTAATTAATTTTAAAGCCTCATATAGACCCATAAAATAAATCAAATTTTTACAAATCACCCATTAATTTGACTTAATTCTATTGAGCAATAAGGAAAGTTAGGATTTTAAGCATTCTGACAGCATACTGATTAATGTTAAATTTCTAACATTCTGATACATATTTTATAATGCTCTGACTCACCAGGTGGTTGGTCTTGACTTATGTTTAACTTGAGTTCATTTCCCAAGTGTGAATCTGACTTTGG... | AAGGGGTACTTGAACCAGGTCTGGGGAAGAAAGGAAACGTAGAAGCTTTGATGTTATCTCACTTTATTAAAAACTAATTAATTTTAAAGCCTCATATAGACCCATAAAATAAATCAAATTTTTACAAATCACCCATTAATTTGACTTAATTCTATTGAGCAATAAGGAAAGTTAGGATTTTAAGCATTCTGACAGCATACTGATTAATGTTAAATTTCTAACATTCTGATACATATTTTATAATGCTCTGACTCACCAGGTGGTTGGTCTTGACTTATGTTTAACTTGAGTTCATTTCCCAAGTGTGAATCTGACTTTGG... | pathogenic | 207,501 |
Clinically, how would you classify the variant at chromosome 13, position 24908060, gene CPAP (centrosome assembly and centriole elongation protein): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | TCCTGATTTTACAAGGCTGTTCCCTCAATTCATCAGCTGAGGACAATGAATGAAGTTGTTTGGGTGCGACTTCACACTCACTCTCCTTCTCACGTGCAGTGTGGTCCAAATCCTCACTGCGGTTACAATGACTAATGGGATCTGCCGGATTTGTCTTCTGTGGCACAGCTTTGACAGGGGTGGAAGACATCCGGTGACCTTTGCAGATCTGTTGATCCCTTTCTAAGATTTTCAGTACAAATGAGGAATTACTAGAAAATGATATTTCATCAGCAGCTTGTTCTAAAAACAAAAATTCATCTAATTCCAAATTTTCCTTT... | TCCTGATTTTACAAGGCTGTTCCCTCAATTCATCAGCTGAGGACAATGAATGAAGTTGTTTGGGTGCGACTTCACACTCACTCTCCTTCTCACGTGCAGTGTGGTCCAAATCCTCACTGCGGTTACAATGACTAATGGGATCTGCCGGATTTGTCTTCTGTGGCACAGCTTTGACAGGGGTGGAAGACATCCGGTGACCTTTGCAGATCTGTTGATCCCTTTCTAAGATTTTCAGTACAAATGAGGAATTACTAGAAAATGATATTTCATCAGCAGCTTGTTCTAAAAACAAAAATTCATCTAATTCCAAATTTTCCTTT... | pathogenic | 207,503 |
A genetic alteration at chromosome 13, position 24908092, in gene CPAP (centrosome assembly and centriole elongation protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_primary_microcephaly', 'Seckel_syndrome_4'] | TCAGCTGAGGACAATGAATGAAGTTGTTTGGGTGCGACTTCACACTCACTCTCCTTCTCACGTGCAGTGTGGTCCAAATCCTCACTGCGGTTACAATGACTAATGGGATCTGCCGGATTTGTCTTCTGTGGCACAGCTTTGACAGGGGTGGAAGACATCCGGTGACCTTTGCAGATCTGTTGATCCCTTTCTAAGATTTTCAGTACAAATGAGGAATTACTAGAAAATGATATTTCATCAGCAGCTTGTTCTAAAAACAAAAATTCATCTAATTCCAAATTTTCCTTTTCCTTTTCTCGTTCCCAAGTCTCTAACTTTTT... | TCAGCTGAGGACAATGAATGAAGTTGTTTGGGTGCGACTTCACACTCACTCTCCTTCTCACGTGCAGTGTGGTCCAAATCCTCACTGCGGTTACAATGACTAATGGGATCTGCCGGATTTGTCTTCTGTGGCACAGCTTTGACAGGGGTGGAAGACATCCGGTGACCTTTGCAGATCTGTTGATCCCTTTCTAAGATTTTCAGTACAAATGAGGAATTACTAGAAAATGATATTTCATCAGCAGCTTGTTCTAAAAACAAAAATTCATCTAATTCCAAATTTTCCTTTTCCTTTTCTCGTTCCCAAGTCTCTAACTTTTT... | pathogenic | 207,504 |
Considering the genetic mutation at chromosome 13, position 24912007, impacting CPAP (centrosome assembly and centriole elongation protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Microcephaly_6,_primary,_autosomal_recessive'] | GTATGTTTCTTCCTGGGTTGGGTCCGGGTAGACATATGATGGGAAGCAGCATGTGGCTCTCTCTCCAGTGGTGGTATTTCCTGGAGACCTGTGCTTCTGGCTCTGATCATCAGGCAGTAAACTCAAACCTTACAATTAAGAAATGCAACAAAGCTGATGACTTCCTTCAACATTTTCTCTTTTATCCCCAGTAGTGACCCCCACCCCACAAAGACTTCTCCACAGTGACAACAGTATTTTTTCCCTTTATTAGGAAATGGTGTTTAACAAAACCATTGATTGTTTGAGACAGTCTCGCTCTGTCGCCAAGGCTGAAGTGC... | GTATGTTTCTTCCTGGGTTGGGTCCGGGTAGACATATGATGGGAAGCAGCATGTGGCTCTCTCTCCAGTGGTGGTATTTCCTGGAGACCTGTGCTTCTGGCTCTGATCATCAGGCAGTAAACTCAAACCTTACAATTAAGAAATGCAACAAAGCTGATGACTTCCTTCAACATTTTCTCTTTTATCCCCAGTAGTGACCCCCACCCCACAAAGACTTCTCCACAGTGACAACAGTATTTTTTCCCTTTATTAGGAAATGGTGTTTAACAAAACCATTGATTGTTTGAGACAGTCTCGCTCTGTCGCCAAGGCTGAAGTGC... | pathogenic | 207,511 |
Variant at chromosome 13, position 24912736, gene CPAP (centrosome assembly and centriole elongation protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Intellectual_disability,_moderate', 'Lissencephaly_type_3', 'Microcephaly_6,_primary,_autosomal_recessive', 'Perisylvian_polymicrogyria', 'Primary_microcephaly'] | TTATGTAAATAACTTTGAAATCAGCTTCCCTGTCATTCTGTCATAGTGCGGTTCTACCTTTAAAAGTATCACAGCTGTTATTTAAGTGATCTTGATTATTCTTTGTATGTATTCCATAAAGAAACCCTAAGCCATTCAACTATTTTAAGGCACACAAATGTTTTCTATATTCTCTAAGATAAACATCCAAATTCCCTAAACCATTGTTTATGTGCTACAATTTCTCATGACCACACCCCACCTGACCCCTGCACCCAGCCTCACTCACTTGCCAAGTCTTTTTTTCCTTGTATTCTCAATGCCCAGCATAATCTCTGAGC... | TTATGTAAATAACTTTGAAATCAGCTTCCCTGTCATTCTGTCATAGTGCGGTTCTACCTTTAAAAGTATCACAGCTGTTATTTAAGTGATCTTGATTATTCTTTGTATGTATTCCATAAAGAAACCCTAAGCCATTCAACTATTTTAAGGCACACAAATGTTTTCTATATTCTCTAAGATAAACATCCAAATTCCCTAAACCATTGTTTATGTGCTACAATTTCTCATGACCACACCCCACCTGACCCCTGCACCCAGCCTCACTCACTTGCCAAGTCTTTTTTTCCTTGTATTCTCAATGCCCAGCATAATCTCTGAGC... | pathogenic | 207,513 |
A genetic alteration at chromosome 13, position 24912899, in gene CPAP (centrosome assembly and centriole elongation protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | TCTATATTCTCTAAGATAAACATCCAAATTCCCTAAACCATTGTTTATGTGCTACAATTTCTCATGACCACACCCCACCTGACCCCTGCACCCAGCCTCACTCACTTGCCAAGTCTTTTTTTCCTTGTATTCTCAATGCCCAGCATAATCTCTGAGCAGAACAGGTGCTTTCCTGGGTCAGTAAAGTATATTTCTTAAAAGAAGCAAACACATGGCTCCAACCTCAGTTTTTTTCAAACTATGGGACACAATCTATAATAATTTTATTATCGGATGTAGCATTTTTTAAAATGATATAGAACTAGAATAAACAAGACAGA... | TCTATATTCTCTAAGATAAACATCCAAATTCCCTAAACCATTGTTTATGTGCTACAATTTCTCATGACCACACCCCACCTGACCCCTGCACCCAGCCTCACTCACTTGCCAAGTCTTTTTTTCCTTGTATTCTCAATGCCCAGCATAATCTCTGAGCAGAACAGGTGCTTTCCTGGGTCAGTAAAGTATATTTCTTAAAAGAAGCAAACACATGGCTCCAACCTCAGTTTTTTTCAAACTATGGGACACAATCTATAATAATTTTATTATCGGATGTAGCATTTTTTAAAATGATATAGAACTAGAATAAACAAGACAGA... | pathogenic | 207,518 |
Evaluate the clinical significance of the mutation at chromosome 13, position 24913007 in gene CPAP (centrosome assembly and centriole elongation protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Microcephaly_1,_primary,_autosomal_recessive', 'Microcephaly_6,_primary,_autosomal_recessive'] | CCAAGTCTTTTTTTCCTTGTATTCTCAATGCCCAGCATAATCTCTGAGCAGAACAGGTGCTTTCCTGGGTCAGTAAAGTATATTTCTTAAAAGAAGCAAACACATGGCTCCAACCTCAGTTTTTTTCAAACTATGGGACACAATCTATAATAATTTTATTATCGGATGTAGCATTTTTTAAAATGATATAGAACTAGAATAAACAAGACAGAAAATGTCCTCACTACATGCCAGGAACACCAATAAGGACTGATGACATGAAATTGCTTTGTCATTATGAGTCACGATTTTAAACATTTTTACTACTACAGAGTGTGGTC... | CCAAGTCTTTTTTTCCTTGTATTCTCAATGCCCAGCATAATCTCTGAGCAGAACAGGTGCTTTCCTGGGTCAGTAAAGTATATTTCTTAAAAGAAGCAAACACATGGCTCCAACCTCAGTTTTTTTCAAACTATGGGACACAATCTATAATAATTTTATTATCGGATGTAGCATTTTTTAAAATGATATAGAACTAGAATAAACAAGACAGAAAATGTCCTCACTACATGCCAGGAACACCAATAAGGACTGATGACATGAAATTGCTTTGTCATTATGAGTCACGATTTTAAACATTTTTACTACTACAGAGTGTGGTC... | pathogenic | 207,523 |
Is the genetic change at chromosome 13, position 25577115, within gene ATP8A2 (ATPase phospholipid transporting 8A2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['ATP8A2-related_disorder', 'Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_4', 'Inborn_genetic_diseases'] | GAAATGCTCTACTTCCATGTCCTCCTTTTTCTTTAGATTTCCAGAGCCTGATGTTCTTGCATCAGCAGCTGCAGACATGTCTGAATAGTTTGGAGCATGTGATGGGGGCATTATTTTCATTGGCGTTTCCCAAGTCCCATGAGGTCATTCCTCTTGCTCCATTTGAGCACTCCTCTGGAGATCTGAGAAACTGACAAATGATGACAGATGAGATCAGTTCATCCCATTAGAGGCTGGGTCCACGTAGGGAAGTTTTCCTGGACTTATTCGGAAGCATTCTTCCCCAGTACAATTTTAAAAAGTTAGACCCAGGAATATTT... | GAAATGCTCTACTTCCATGTCCTCCTTTTTCTTTAGATTTCCAGAGCCTGATGTTCTTGCATCAGCAGCTGCAGACATGTCTGAATAGTTTGGAGCATGTGATGGGGGCATTATTTTCATTGGCGTTTCCCAAGTCCCATGAGGTCATTCCTCTTGCTCCATTTGAGCACTCCTCTGGAGATCTGAGAAACTGACAAATGATGACAGATGAGATCAGTTCATCCCATTAGAGGCTGGGTCCACGTAGGGAAGTTTTCCTGGACTTATTCGGAAGCATTCTTCCCCAGTACAATTTTAAAAAGTTAGACCCAGGAATATTT... | pathogenic | 207,542 |
Variant in PDX1 (pancreatic and duodenal homeobox 1), chromosome 13, position 27924518—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_4', 'Maturity_onset_diabetes_mellitus_in_young', 'Pancreatic_agenesis_1', 'Type_2_diabetes_mellitus'] | GAGCGAAGTGACAAAAGGGCTCTCACTGGCAGTACGAATCTGAATGCTAATGACAACAGAGGTTTTGAAAAACATTGACCCCCAAATGCTTCAGCAGCGCTGTCCAGCTGGCACCTAAACTGCATCACTCTGCGCCTTGGGGAAGGGCCCAGGCTTGGCGACCTTGACCTTTTCCCACCATCCTCAACCTCCACCCCTGCCGCGTCGCGCTGAGCACAGGTCCCCCGGGAATAGTGCACCCCAGGAAGTCTCTCCCTGAGCAGTCTCTCGCAGGGACTTCACGAAGCCCTCTCGCAGGGACTATACGAAGCCCGCAGCCT... | GAGCGAAGTGACAAAAGGGCTCTCACTGGCAGTACGAATCTGAATGCTAATGACAACAGAGGTTTTGAAAAACATTGACCCCCAAATGCTTCAGCAGCGCTGTCCAGCTGGCACCTAAACTGCATCACTCTGCGCCTTGGGGAAGGGCCCAGGCTTGGCGACCTTGACCTTTTCCCACCATCCTCAACCTCCACCCCTGCCGCGTCGCGCTGAGCACAGGTCCCCCGGGAATAGTGCACCCCAGGAAGTCTCTCCCTGAGCAGTCTCTCGCAGGGACTTCACGAAGCCCTCTCGCAGGGACTATACGAAGCCCGCAGCCT... | pathogenic | 207,624 |
Gene POMP (proteasome maturation protein) variant at chromosome position 28672406 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Keratosis_linearis-ichthyosis_congenita-sclerosing_keratoderma_syndrome', 'Proteasome-associated_autoinflammatory_syndrome_2'] | TCCCCTGCTCCCCCAAATCATTCAGTTTATTACTTGCTCTCCCCACCATTGCTACTATGCTGGTCCTTGCCCCTGTCAGACTTCATCTGGATTACTGCAACACTCATCCCTGCTGCCCCTCCAATCCTTGTTAAGACTCTAATCAGAATAATCTTTGTAAAACACAGATTTGATTATGTCATTCCCCTCACTTTACCCTCTAAATAAAAATAAAACCCAACACTTAGTGTGGCTCTGTCCATGAATTGGCTCCTTGCTTCCCACCACACTTCTTATCCTCTTAAACTACTTGCAGTTTCCTAATTCATTAAGTTCTTTCA... | TCCCCTGCTCCCCCAAATCATTCAGTTTATTACTTGCTCTCCCCACCATTGCTACTATGCTGGTCCTTGCCCCTGTCAGACTTCATCTGGATTACTGCAACACTCATCCCTGCTGCCCCTCCAATCCTTGTTAAGACTCTAATCAGAATAATCTTTGTAAAACACAGATTTGATTATGTCATTCCCCTCACTTTACCCTCTAAATAAAAATAAAACCCAACACTTAGTGTGGCTCTGTCCATGAATTGGCTCCTTGCTTCCCACCACACTTCTTATCCTCTTAAACTACTTGCAGTTTCCTAATTCATTAAGTTCTTTCA... | pathogenic | 207,689 |
Is the genetic variant on chromosome 13, position 31215032, gene B3GLCT (beta 3-glucosyltransferase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CTTTCTTCTTAGAACTTGAAGAAATGATTGGGCTTTGTGTGTGTGTGTGTGTGCACGCGTGCGCGTGTGTGTGTATGTGTGTGTAAAGTGAGAAAATGCATTAGATCCTGGTGAAAATAAAGGTGAGGGGCACTAAACGTCTTTGTTCTACTGGGTAGGCGCTGCCTGGTATAGAGAGCAGGTGGTCCTTTTGTGATGTGACTCTAGGGTCCCCCATAGTGAAGACTTTCACTCATTCATTTATTAAGTAAATATTTATTGAGTTTCTTCTATGTGCTAGCTGTGCTTTTGGTGTGGAGACAAATGGTAGATAAAACTGT... | CTTTCTTCTTAGAACTTGAAGAAATGATTGGGCTTTGTGTGTGTGTGTGTGTGCACGCGTGCGCGTGTGTGTGTATGTGTGTGTAAAGTGAGAAAATGCATTAGATCCTGGTGAAAATAAAGGTGAGGGGCACTAAACGTCTTTGTTCTACTGGGTAGGCGCTGCCTGGTATAGAGAGCAGGTGGTCCTTTTGTGATGTGACTCTAGGGTCCCCCATAGTGAAGACTTTCACTCATTCATTTATTAAGTAAATATTTATTGAGTTTCTTCTATGTGCTAGCTGTGCTTTTGGTGTGGAGACAAATGGTAGATAAAACTGT... | benign | 207,711 |
Does the variant on chromosome 13 at location 31229168 affecting gene B3GLCT (beta 3-glucosyltransferase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AGTACTGGTTAATTTTTATTGCTGCATAGTATTCAAGTTAATGTATCTTGTTAGTGGATATTTTTGTTGCTTCCCATTTTTTTCTTTTACACAGTGCCACTGTAAACACTTTTGTCATATATCCTTGTGCACACATCTGAGTTTCTCAAGGATGATTAATAAGAGTGGAATTTCTGGGTCATTGGGAATGTGCATCTTCTTTATTAAATTAAAAAAAAAATTATTCTCTGAGGCTTATTTACTCCATTCTTAACAAAAAGAAATCCTTATAACTCCTCTTTAGATGTGTCAGTTTATATTAATGTTTCAGATGTAGTAGA... | AGTACTGGTTAATTTTTATTGCTGCATAGTATTCAAGTTAATGTATCTTGTTAGTGGATATTTTTGTTGCTTCCCATTTTTTTCTTTTACACAGTGCCACTGTAAACACTTTTGTCATATATCCTTGTGCACACATCTGAGTTTCTCAAGGATGATTAATAAGAGTGGAATTTCTGGGTCATTGGGAATGTGCATCTTCTTTATTAAATTAAAAAAAAAATTATTCTCTGAGGCTTATTTACTCCATTCTTAACAAAAAGAAATCCTTATAACTCCTCTTTAGATGTGTCAGTTTATATTAATGTTTCAGATGTAGTAGA... | benign | 207,714 |
Mutation found at chromosome 13 position 31269183, gene B3GLCT (beta 3-glucosyltransferase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TTGAATGAGAAAGAAACTTGAAAAGCCAAAAAGATGGAGAGCATGTTTAAGGTAACAGTACTAAGGTGTTTACTGACTGTTATGAAGGGGCCTATGAAACATTGCCATCTAACAGTGGAGGTCACATGCCTCTTGTATTCTAATCACAACTTGGTGTTCCTTGCCTGTGGCAATAAGCCCGGGTATGACTTTTCTGTCTTTGGAGCCTGAATGAAATGAATACTTACTCTTTGTGGTCTGATTAGATTTTGAAGGCATGTGGCATGAGTCCAAATCCCAAAGTTACCTTGATGCAGTTTATTTATGAAAACATGCTCCAA... | TTGAATGAGAAAGAAACTTGAAAAGCCAAAAAGATGGAGAGCATGTTTAAGGTAACAGTACTAAGGTGTTTACTGACTGTTATGAAGGGGCCTATGAAACATTGCCATCTAACAGTGGAGGTCACATGCCTCTTGTATTCTAATCACAACTTGGTGTTCCTTGCCTGTGGCAATAAGCCCGGGTATGACTTTTCTGTCTTTGGAGCCTGAATGAAATGAATACTTACTCTTTGTGGTCTGATTAGATTTTGAAGGCATGTGGCATGAGTCCAAATCCCAAAGTTACCTTGATGCAGTTTATTTATGAAAACATGCTCCAA... | benign | 207,727 |
Does the variant on chromosome 13 at location 31276666 affecting gene B3GLCT (beta 3-glucosyltransferase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TACCGCTTTGTGTGAGTAACAGAAGAAAAACTTCTTTGCATATCAAAGGAAAAATTTAGATGCTGTGCATAATGTCATCCTAGCACTTTAAAATGAATTTTAAATTCAGGGCATTCATGTGCAAGTTGGTTATAAGGGTATATTGTGTGATGCTAAGGTTTGGGCTTCTGCTGATTCTGTCACCCAAATAGTGAACATGGTACCCAATAGGAAGTTTTCAAACCTTGCTCTTCTTCCTTCCTCCCCTTTTTAGAGTCCCCAGTGTCTGTTGTTCCTATTTTTATGTTTGTGTGTACCCAGTGTTTAGCTTCCACTTATAA... | TACCGCTTTGTGTGAGTAACAGAAGAAAAACTTCTTTGCATATCAAAGGAAAAATTTAGATGCTGTGCATAATGTCATCCTAGCACTTTAAAATGAATTTTAAATTCAGGGCATTCATGTGCAAGTTGGTTATAAGGGTATATTGTGTGATGCTAAGGTTTGGGCTTCTGCTGATTCTGTCACCCAAATAGTGAACATGGTACCCAATAGGAAGTTTTCAAACCTTGCTCTTCTTCCTTCCTCCCCTTTTTAGAGTCCCCAGTGTCTGTTGTTCCTATTTTTATGTTTGTGTGTACCCAGTGTTTAGCTTCCACTTATAA... | benign | 207,737 |
Regarding the variant found on chromosome 13 at position 32315645 in gene BRCA2: is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGTGATTACAGGCGTGAGCCACCATGCCCAGCTGGAAATAATGTTTTTAAGAAAAATTAAAGCATATTGTAAATTGAATACAAATAGTAAATTGAGCAGCTGCACTAGAAGAGAATAGGTGAGAAAGTCTATTATGGTGGAGCTAATAAGTTGCAAGTCCCTGGTACAAAGAGAACAAGAAACATAAAGGTATGGGGGGCTGTATAAAATGACAGAAAATGTTATTTCTGAGACTTGTGTGACATGCCACGGGTTCTCATTAGTCCACTCCTAGTGAGACACC... | CCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGTGATTACAGGCGTGAGCCACCATGCCCAGCTGGAAATAATGTTTTTAAGAAAAATTAAAGCATATTGTAAATTGAATACAAATAGTAAATTGAGCAGCTGCACTAGAAGAGAATAGGTGAGAAAGTCTATTATGGTGGAGCTAATAAGTTGCAAGTCCCTGGTACAAAGAGAACAAGAAACATAAAGGTATGGGGGGCTGTATAAAATGACAGAAAATGTTATTTCTGAGACTTGTGTGACATGCCACGGGTTCTCATTAGTCCACTCCTAGTGAGACACC... | benign | 207,809 |
Does the variant impacting BRCA2 on chromosome 13, position 32315663, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CCTTGGCCTCCCAAAGTGCTGTGATTACAGGCGTGAGCCACCATGCCCAGCTGGAAATAATGTTTTTAAGAAAAATTAAAGCATATTGTAAATTGAATACAAATAGTAAATTGAGCAGCTGCACTAGAAGAGAATAGGTGAGAAAGTCTATTATGGTGGAGCTAATAAGTTGCAAGTCCCTGGTACAAAGAGAACAAGAAACATAAAGGTATGGGGGGCTGTATAAAATGACAGAAAATGTTATTTCTGAGACTTGTGTGACATGCCACGGGTTCTCATTAGTCCACTCCTAGTGAGACACCCCTCCCCCACAAAAAGGG... | CCTTGGCCTCCCAAAGTGCTGTGATTACAGGCGTGAGCCACCATGCCCAGCTGGAAATAATGTTTTTAAGAAAAATTAAAGCATATTGTAAATTGAATACAAATAGTAAATTGAGCAGCTGCACTAGAAGAGAATAGGTGAGAAAGTCTATTATGGTGGAGCTAATAAGTTGCAAGTCCCTGGTACAAAGAGAACAAGAAACATAAAGGTATGGGGGGCTGTATAAAATGACAGAAAATGTTATTTCTGAGACTTGTGTGACATGCCACGGGTTCTCATTAGTCCACTCCTAGTGAGACACCCCTCCCCCACAAAAAGGG... | benign | 207,811 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32316413, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCAAGCACCTTCTGGAAGCAGCAAGGCCCCCATGGGAGCAACTCTCACTGAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCT... | TCAAGCACCTTCTGGAAGCAGCAAGGCCCCCATGGGAGCAACTCTCACTGAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCT... | benign | 207,820 |
A mutation at chromosome position 32316419 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma', 'Pancreatic_canc... | ACCTTCTGGAAGCAGCAAGGCCCCCATGGGAGCAACTCTCACTGAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTT... | ACCTTCTGGAAGCAGCAAGGCCCCCATGGGAGCAACTCTCACTGAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTT... | pathogenic | 207,821 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32316462, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATT... | GAATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATT... | pathogenic | 207,832 |
Does the variant on chromosome 13 at location 32316463 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTC... | AATCCATTTGAAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTC... | pathogenic | 207,835 |
Is the genetic mutation found on chromosome 13 at position 32316473, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_prostate', 'Medulloblastoma', 'Pancreatic_cancer,_susceptibility_to,_2', 'Wilms_tumor_1'... | AAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTC... | AAGGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTC... | pathogenic | 207,840 |
Chromosome 13, position 32316475, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGG... | GGTTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGG... | pathogenic | 207,842 |
A genetic variant at chromosome 13, position 32316477, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGA... | TTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGA... | pathogenic | 207,843 |
A genetic variant at chromosome 13, position 32316477, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGA... | TTTTGTAGGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGA... | pathogenic | 207,844 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32316484—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_breast_cancer_and_ovarian_cancer', 'Malignant_tumor_of_breast'] | GGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAG... | GGTCTTACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAG... | pathogenic | 207,846 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32316490—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGA... | ACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGA... | pathogenic | 207,848 |
Assess the variant on chromosome 13, position 32316490, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGA... | ACAACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGA... | pathogenic | 207,850 |
Is the genetic variant on chromosome 13, position 32316492, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA... | AACAAACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA... | pathogenic | 207,851 |
Is the genetic variant on chromosome 13, position 32316497, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCAC... | ACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCAC... | pathogenic | 207,852 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32316497 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCAC... | ACCCTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCAC... | pathogenic | 207,854 |
Mutation at chromosome 13, position 32316500, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | CTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTG... | CTATTCAGCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTG... | pathogenic | 207,855 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32316507, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTG... | GCCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTG... | pathogenic | 207,856 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32316508: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTGG... | CCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTGG... | pathogenic | 207,858 |
Is the variant located on chromosome 13 at position 32316508, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | CCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTGG... | CCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTGG... | pathogenic | 207,859 |
Chromosome 13, position 32316508, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | CCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTGG... | CCTTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTGG... | pathogenic | 207,860 |
The genetic variant at chromosome 13, position 32316510, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTGGAG... | TTGTATTAGGCATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTGGAG... | pathogenic | 207,861 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32316520—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTGGAGGCGGAAGTTG... | CATGTTACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTGGAGGCGGAAGTTG... | pathogenic | 207,868 |
Variant at chromosome position 32316526, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | ACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTGGAGGCGGAAGTTGCGGTGA... | ACAGAACCAACGAATTCGGAGATGAAGTCAGGTCTTCCAGTTCAGCCTGCGAGGAAGACAGGTGATCCGAATCCTAAGAATGCAAAAGATGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGGTTGAGACCAGACTGACCAACAACGGAGAAACCCCGTCTCTACTTAAAAATGCAAAGTTAGCCGTGCGTGGTGGCCCATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTTGATCCCTGGAGGCGGAAGTTGCGGTGA... | pathogenic | 207,869 |
Does the genetic variant at chromosome 13, position 32317314, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AGCAGGGTGGCCTGGGACTCTTAAGGGTCAGCGAGAAGAGAACACACACTCCAGCTCCCGCTTTATTCGGTCAGATACTGACGGTTGGGATGCCTGACAAGGAATTTCCTTTCGCCACACTGAGAAATACCCGCAGCGGCCCACCCAGGCCTGACTTCCGGGTGGTGCGTGTGCTGCGTGTCGCGTCACGGCGTCACGTGGCCAGCGCGGGCTTGTGGCGCGAGCTTCTGAAACTAGGCGGCAGAGGCGGAGCCGCTGTGGCACTGCTGCGCCTCTGCTGCGCCTCGGGTGTCTTTTGCGGCGGTGGGTCGCCGCCGGGA... | AGCAGGGTGGCCTGGGACTCTTAAGGGTCAGCGAGAAGAGAACACACACTCCAGCTCCCGCTTTATTCGGTCAGATACTGACGGTTGGGATGCCTGACAAGGAATTTCCTTTCGCCACACTGAGAAATACCCGCAGCGGCCCACCCAGGCCTGACTTCCGGGTGGTGCGTGTGCTGCGTGTCGCGTCACGGCGTCACGTGGCCAGCGCGGGCTTGTGGCGCGAGCTTCTGAAACTAGGCGGCAGAGGCGGAGCCGCTGTGGCACTGCTGCGCCTCTGCTGCGCCTCGGGTGTCTTTTGCGGCGGTGGGTCGCCGCCGGGA... | benign | 207,890 |
Is the chromosome 13, position 32317747 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CGCGTCTTCCGCAGTCCCAGTCCAGCGTGGCGGGGGAGCGCCTCACGCCCCGGGTCGCTGCCGCGGCTTCTTGCCCTTTTGTCTCTGCCAACCCCCACCCATGCCTGAGAGAAAGGTCCTTGCCCGAAGGCAGATTTTCGCCAAGCAAATTCGAGCCCCGCCCCTTCCCTGGGTCTCCATTTCCCGCCTCCGGCCCGGCCTTTGGGCTCCGCCTTCAGCTCAAGACTTAACTTCCCTCCCAGCTGTCCCAGATGACGCCATCTGAAATTTCTTGGAAACACGATCACTTTAACGGAATATTGCTGTTTTGGGGAAGTGTT... | CGCGTCTTCCGCAGTCCCAGTCCAGCGTGGCGGGGGAGCGCCTCACGCCCCGGGTCGCTGCCGCGGCTTCTTGCCCTTTTGTCTCTGCCAACCCCCACCCATGCCTGAGAGAAAGGTCCTTGCCCGAAGGCAGATTTTCGCCAAGCAAATTCGAGCCCCGCCCCTTCCCTGGGTCTCCATTTCCCGCCTCCGGCCCGGCCTTTGGGCTCCGCCTTCAGCTCAAGACTTAACTTCCCTCCCAGCTGTCCCAGATGACGCCATCTGAAATTTCTTGGAAACACGATCACTTTAACGGAATATTGCTGTTTTGGGGAAGTGTT... | benign | 207,894 |
Classify the chromosome 13 variant at position 32318103 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AGCCCCTGGTAATTGCTGTATTCCGAAGACATGCTGATGGGAATTACCAGGCGGCGTTGGTCTCTAACTGGAGCCCTCTGTCCCCACTAGCCACGCGTCACTGGTTAGCGTGATTGAAACTAAATCGTATGAAAATCCTCTTCTCTAGTCGCACTAGCCACGTTTCGAGTGCTTAATGTGGCTAGTGGCACCGGTTTGGACAGCACAGCTGTAAAATGTTCCCATCCTCACAGTAAGCTGTTACCGTTCCAGGAGATGGGACTGAATTAGAATTCAAACAAATTTTCCAGCGCTTCTGAGTTTTACCTCAGTCACATAAT... | AGCCCCTGGTAATTGCTGTATTCCGAAGACATGCTGATGGGAATTACCAGGCGGCGTTGGTCTCTAACTGGAGCCCTCTGTCCCCACTAGCCACGCGTCACTGGTTAGCGTGATTGAAACTAAATCGTATGAAAATCCTCTTCTCTAGTCGCACTAGCCACGTTTCGAGTGCTTAATGTGGCTAGTGGCACCGGTTTGGACAGCACAGCTGTAAAATGTTCCCATCCTCACAGTAAGCTGTTACCGTTCCAGGAGATGGGACTGAATTAGAATTCAAACAAATTTTCCAGCGCTTCTGAGTTTTACCTCAGTCACATAAT... | benign | 207,897 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32319059, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | benign | AACATGGTGAAACCCTATCTCTACTAAAAATACAAAAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGT... | AACATGGTGAAACCCTATCTCTACTAAAAATACAAAAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGT... | benign | 207,906 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32319060: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACATGGTGAAACCCTATCTCTACTAAAAATACAAAAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTT... | ACATGGTGAAACCCTATCTCTACTAAAAATACAAAAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTT... | benign | 207,907 |
The genetic variant at chromosome 13, position 32319060, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | benign | ACATGGTGAAACCCTATCTCTACTAAAAATACAAAAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTT... | ACATGGTGAAACCCTATCTCTACTAAAAATACAAAAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTT... | benign | 207,909 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32319077, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCTACTAAAAATACAAAAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTT... | CTCTACTAAAAATACAAAAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTT... | pathogenic | 207,912 |
Evaluate if the mutation on chromosome 13 at position 32319077 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CTCTACTAAAAATACAAAAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTT... | CTCTACTAAAAATACAAAAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTT... | pathogenic | 207,913 |
Clinical significance of chromosome 13, position 32319090, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ACAAAAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCT... | ACAAAAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCT... | pathogenic | 207,919 |
Benign or pathogenic: chromosome 13, position 32319094, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCT... | AAAATGTGCTGCGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCT... | pathogenic | 207,920 |
Is chromosome 13, position 32319109, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTG... | TGGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTG... | pathogenic | 207,927 |
Clinical classification of chromosome 13, position 32319110, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | GGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGG... | GGTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGG... | pathogenic | 207,929 |
Does the chromosome 13 mutation at position 32319111 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGA... | GTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGA... | pathogenic | 207,930 |
Determine if the mutation at chromosome 13, position 32319111 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGA... | GTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGA... | pathogenic | 207,932 |
Is the genetic mutation found on chromosome 13 at position 32319111, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGA... | GTGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGA... | pathogenic | 207,933 |
A genetic variant on chromosome 13, position 32319112, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGAT... | TGGTGCGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGAT... | pathogenic | 207,934 |
Does the genetic variant at chromosome 13, position 32319117, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACT... | CGTGCCTGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACT... | pathogenic | 207,935 |
The chromosome 13, position 32319123 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTG... | TGTAATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTG... | pathogenic | 207,939 |
Variant at chromosome 13, position 32319126, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGT... | AATCCCAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGT... | pathogenic | 207,940 |
Evaluate this variant at chromosome 13, position 32319131, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAAT... | CAGCTACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAAT... | pathogenic | 207,943 |
Located at chromosome 13 position 32319135, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGT... | TACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGT... | pathogenic | 207,949 |
Considering the genetic mutation at chromosome 13, position 32319135, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGT... | TACACGGGAGGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGT... | pathogenic | 207,950 |
Is the genetic change at chromosome 13, position 32319144, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGT... | GGTGGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGT... | pathogenic | 207,953 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32319151—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTA... | GCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTA... | pathogenic | 207,954 |
Is chromosome 13, position 32319159, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | ATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAA... | ATCGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAA... | pathogenic | 207,956 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32319165: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | TGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATT... | TGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATT... | pathogenic | 207,957 |
For chromosome 13, position 32319165, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_neoplasm', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATT... | TGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATT... | pathogenic | 207,958 |
Variant chromosome 13, position 32319165, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATT... | TGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATT... | pathogenic | 207,959 |
Determine whether the variant at chromosome 13, position 32319170, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCT... | CCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCT... | pathogenic | 207,961 |
Variant at chromosome 13, position 32319178, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | CAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGA... | CAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGA... | pathogenic | 207,964 |
A mutation at chromosome position 32319179 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAA... | AGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAA... | pathogenic | 207,965 |
Considering the variant on chromosome 13, location 32319183, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAA... | GTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAA... | pathogenic | 207,971 |
Evaluate this variant at chromosome 13, position 32319192, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTT... | AGCCAAGATCATGCCACTGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTT... | pathogenic | 207,974 |
Clinical significance of chromosome 13, position 32319209, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTAC... | TGCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTAC... | pathogenic | 207,979 |
Variant at chromosome 13, position 32319210, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACT... | GCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACT... | pathogenic | 207,981 |
A genetic variant on chromosome 13, position 32319210, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | GCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACT... | GCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACT... | pathogenic | 207,982 |
A mutation at chromosome position 32319210 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | GCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACT... | GCACTCTAGCCTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACT... | pathogenic | 207,983 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32319220 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATT... | CTGGGCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATT... | pathogenic | 207,986 |
A mutation at chromosome position 32319224 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTC... | GCCACATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTC... | pathogenic | 207,988 |
Regarding the variant at chromosome 13 and position 32319229, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGT... | ATAGCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGT... | pathogenic | 207,991 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32319232 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACT... | GCATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACT... | pathogenic | 207,995 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32319233, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTT... | CATGACTCTGTCTCAAAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTT... | pathogenic | 207,996 |
Clinical classification of chromosome 13, position 32319248, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCA... | AAACAAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCA... | pathogenic | 208,004 |
Chromosome 13, position 32319252, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGA... | AAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGA... | pathogenic | 208,005 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32319252, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | AAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGA... | AAACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGA... | pathogenic | 208,007 |
Variant at chromosome 13, position 32319254, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATC... | ACAAACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATC... | pathogenic | 208,009 |
A genetic variant on chromosome 13, position 32319258, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAAT... | ACAAACAAAAAACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAAT... | pathogenic | 208,011 |
Benign or pathogenic: chromosome 13, position 32319268, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCA... | AACTAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCA... | pathogenic | 208,014 |
Is the genetic variant on chromosome 13, position 32319271, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAG... | TAAGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAG... | pathogenic | 208,015 |
A genetic variant on chromosome 13, position 32319273, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGT... | AGAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGT... | pathogenic | 208,016 |
Does the genetic variant at chromosome 13, position 32319274, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTC... | GAATTTAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTC... | pathogenic | 208,017 |
The chromosome 13, position 32319279 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCC... | TAAAGTTAATTTACTTAAAAATAATGAAAGCTAACCCATTGCATATTATCACAACATTCTTAGGAAAAATAACTTTTTGAAAACAAGTGAGTGGAATAGTTTTTACATTTTTGCAGTTCTCTTTAATGTCTGGCTAAATAGAGATAGCTGGATTCACTTATCTGTGTCTAATCTGTTATTTTGGTAGAAGTATGTGAAAAAAAATTAACCTCACGTTGAAAAAAGGAATATTTTAATAGTTTTCAGTTACTTTTTGGTATTTTTCCTTGTACTTTGCATAGATTTTTCAAAGATCTAATAGATATACCATAGGTCTTTCC... | pathogenic | 208,021 |
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