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 |
|---|---|---|---|---|---|
Does the chromosome 16 mutation at position 23629746 within gene PALB2 (partner and localizer of BRCA2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGA... | AACAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGA... | pathogenic | 249,229 |
Regarding the variant at chromosome 16 and position 23629748, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGT... | CAAAAAAACACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGT... | pathogenic | 249,230 |
A genetic alteration at chromosome 16, position 23629757, in gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCA... | ACAACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCA... | pathogenic | 249,231 |
Evaluate this variant at chromosome 16, position 23629759, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGC... | AACCCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGC... | pathogenic | 249,232 |
Variant on chromosome 16, at position 23629762, affecting PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTG... | CCAATTAATAATCAATACAACCAAAAACTAGTTTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTG... | pathogenic | 249,233 |
Variant at chromosome position 23629794, chromosome 16, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast'] | TTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAA... | TTGTTTGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAA... | pathogenic | 249,244 |
Does the chromosome 16 mutation at position 23629799 within gene PALB2 (partner and localizer of BRCA2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACA... | TGGAAGACCCACGTAATGGCCAACTCTCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACA... | pathogenic | 249,246 |
Does the variant on chromosome 16 at location 23629825 affecting gene PALB2 (partner and localizer of BRCA2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast'] | TCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCAC... | TCGAGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCAC... | pathogenic | 249,251 |
Considering the variant on chromosome 16, location 23629828, involving gene PALB2 (partner and localizer of BRCA2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_cancer_predisposition', 'PALB2-related_disorder'] | AGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACT... | AGTCTAATGTAGAAAAACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACT... | pathogenic | 249,253 |
Chromosome 16, position 23629843, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTAC... | AACAATAATTTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTAC... | pathogenic | 249,257 |
Clinically, how would you classify the variant at chromosome 16, position 23629852, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGT... | TTAGAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGT... | pathogenic | 249,259 |
The genetic variant at chromosome 16, position 23629855, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | GAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGA... | GAAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGA... | pathogenic | 249,260 |
Variant in PALB2 (partner and localizer of BRCA2), chromosome 16, position 23629856—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAG... | AAATGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAG... | pathogenic | 249,262 |
For chromosome 16, position 23629859, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast_and/or_ovarian_cancer', 'Hereditary_cancer-predisposing_syndrome'] | TGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCA... | TGGGAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCA... | pathogenic | 249,265 |
A genetic variant on chromosome 16, position 23629862, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | GAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGA... | GAGAATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGA... | pathogenic | 249,266 |
Located at chromosome 16 position 23629866, the variant affecting gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAAT... | ATGGGGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAAT... | pathogenic | 249,267 |
For chromosome 16, position 23629870, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome'] | GGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCT... | GGAAGAGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCT... | pathogenic | 249,268 |
Variant at chromosome position 23629875, chromosome 16, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'PALB2-related_cancer_predisposition'] | AGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAAC... | AGAGGCTTAATTACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAAC... | pathogenic | 249,269 |
Does the chromosome 16 mutation at position 23629886 within gene PALB2 (partner and localizer of BRCA2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGA... | TACATATACACAGATTTTAATAATCTATAAGAAGTAACTTTTTACCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGA... | pathogenic | 249,274 |
Assess the variant on chromosome 16, position 23629930, impacting PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGC... | CCTACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGC... | pathogenic | 249,285 |
Located at chromosome 16 position 23629933, the variant affecting gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACT... | ACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACT... | pathogenic | 249,286 |
Variant chromosome 16, position 23629933, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACT... | ACACATTTGAAAATATGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACT... | pathogenic | 249,287 |
Benign or pathogenic: chromosome 16, position 23629948, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACA... | TGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACA... | pathogenic | 249,293 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23629948 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACA... | TGAATGAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACA... | pathogenic | 249,294 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23629953 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTC... | GAAATAGTTGATTCTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTC... | pathogenic | 249,296 |
A genetic variant at chromosome 16, position 23629966, affecting gene PALB2 (partner and localizer of BRCA2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast'] | CTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAAT... | CTTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAAT... | pathogenic | 249,298 |
Variant at chromosome position 23629967, chromosome 16, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast'] | TTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATA... | TTTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATA... | pathogenic | 249,300 |
Is the variant located on chromosome 16 at position 23629968, gene PALB2 (partner and localizer of BRCA2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAA... | TTAAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAA... | pathogenic | 249,301 |
A genetic alteration at chromosome 16, position 23629970, in gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAA... | AAGAGACTAAGTTATTAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAA... | pathogenic | 249,302 |
Does the genetic variant at chromosome 16, position 23629985, impacting gene PALB2 (partner and localizer of BRCA2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Breast_neoplasm', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_pancreas', 'Pancreatic_cancer,_sus... | TAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATT... | TAGGACACTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATT... | pathogenic | 249,307 |
Located at chromosome 16 position 23629992, the variant affecting gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAA... | CTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAA... | pathogenic | 249,310 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23629993 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAG... | TGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAG... | pathogenic | 249,311 |
Is the genetic variant on chromosome 16, position 23629997, gene PALB2 (partner and localizer of BRCA2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATA... | CATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATA... | pathogenic | 249,314 |
Clinically, how would you classify the variant at chromosome 16, position 23629999, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast'] | TGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAA... | TGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAA... | pathogenic | 249,315 |
Clinical classification of chromosome 16, position 23630007, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_disorder'] | CATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAA... | CATGCCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAA... | pathogenic | 249,317 |
Benign or pathogenic: chromosome 16, position 23630033, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Breast_cancer,_susceptibility_to', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'Pancreatic_cancer,_susceptibility_to,_3'] | AGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCC... | AGGCCAAGGCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCC... | pathogenic | 249,326 |
For chromosome 16, position 23630041, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast'] | GCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGA... | GCAGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGA... | pathogenic | 249,328 |
Determine if the mutation at chromosome 16, position 23630043 in gene PALB2 (partner and localizer of BRCA2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAA... | AGGCGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAA... | pathogenic | 249,330 |
Chromosome 16, position 23630048, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast'] | GATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAA... | GATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAA... | pathogenic | 249,333 |
Variant chromosome 16, position 23630061, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGA... | CAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGA... | pathogenic | 249,337 |
The mutation impacting PALB2 (partner and localizer of BRCA2) on chromosome 16 at position 23630074: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast'] | CCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTT... | CCAGCCTGGCCAACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTT... | pathogenic | 249,343 |
Clinical significance of chromosome 16, position 23630086, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast'] | ACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGAC... | ACATGGCAAAACCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGAC... | pathogenic | 249,347 |
Mutation at chromosome 16, position 23630097, within PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast'] | CCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAA... | CCCCATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAA... | pathogenic | 249,350 |
Does the variant impacting PALB2 (partner and localizer of BRCA2) on chromosome 16, position 23630101, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'PALB2-related_disorder', 'Pancreatic_cancer,_susceptibility_to,_3'] | ATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGG... | ATTTCTACTAAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGG... | pathogenic | 249,351 |
Does the chromosome 16 mutation at position 23630110 within gene PALB2 (partner and localizer of BRCA2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTT... | AAAAATACAAAAATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTT... | pathogenic | 249,353 |
Is chromosome 16, position 23630121, gene PALB2 (partner and localizer of BRCA2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTT... | AATTAGCAAGGCGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTT... | pathogenic | 249,358 |
A genetic variant at chromosome 16, position 23630132, affecting gene PALB2 (partner and localizer of BRCA2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast'] | CGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTC... | CGTGGTGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTC... | pathogenic | 249,363 |
Classify the chromosome 16 variant at position 23630137 affecting gene PALB2 (partner and localizer of BRCA2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCA... | TGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCA... | pathogenic | 249,364 |
Evaluate this variant at chromosome 16, position 23630137, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast'] | TGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCA... | TGGCGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCA... | pathogenic | 249,365 |
Is the chromosome 16, position 23630140 variant in PALB2 (partner and localizer of BRCA2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACAC... | CGCACACTTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACAC... | pathogenic | 249,367 |
A genetic alteration at chromosome 16, position 23630147, in gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | TTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGAT... | TTGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGAT... | pathogenic | 249,369 |
Evaluate this variant at chromosome 16, position 23630148, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast'] | TGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATT... | TGTAATCCCAGCTACTATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATT... | pathogenic | 249,370 |
A genetic variant at chromosome 16, position 23630163, affecting gene PALB2 (partner and localizer of BRCA2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTC... | TATGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTC... | pathogenic | 249,372 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23630165 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTG... | TGGAGGTTGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTG... | pathogenic | 249,374 |
Assess the variant on chromosome 16, position 23630172, impacting PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCC... | TGAGGCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCC... | pathogenic | 249,376 |
A genetic alteration at chromosome 16, position 23630176, in gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCT... | GCACGAGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCT... | pathogenic | 249,377 |
Chromosome 16, position 23630181, gene PALB2 (partner and localizer of BRCA2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | AGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAAC... | AGAATTGCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAAC... | pathogenic | 249,379 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome 16, position 23630187—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACA... | GCTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACA... | pathogenic | 249,384 |
Mutation found at chromosome 16 position 23630188, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_cancer_predisposition'] | CTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACAC... | CTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACAC... | pathogenic | 249,385 |
Classify the chromosome 16 variant at position 23630188 affecting gene PALB2 (partner and localizer of BRCA2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACAC... | CTTGAACCTGTAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACAC... | pathogenic | 249,386 |
Variant at chromosome position 23630198, chromosome 16, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATT... | TAGGCGGAGGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATT... | pathogenic | 249,389 |
Mutation found at chromosome 16 position 23630206, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATG... | GGTTGCAGTGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATG... | pathogenic | 249,391 |
Is the genetic mutation found on chromosome 16 at position 23630214, within the gene PALB2 (partner and localizer of BRCA2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | TGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTT... | TGAGTGGAGATTGGAGATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTT... | pathogenic | 249,394 |
Clinically, how would you classify the variant at chromosome 16, position 23630229, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | GATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTG... | GATTGGAGATTGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTG... | pathogenic | 249,399 |
Is the genetic change at chromosome 16, position 23630239, within gene PALB2 (partner and localizer of BRCA2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAG... | TGCCCCACTGCACTCCAGCCTAGGCAACAGACTCTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAG... | pathogenic | 249,406 |
Evaluate this variant at chromosome 16, position 23630272, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTAT... | CTGTCTCAAAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTAT... | pathogenic | 249,413 |
Evaluate this variant at chromosome 16, position 23630280, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACC... | AAAAATAAAATAAGTTATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACC... | pathogenic | 249,417 |
A genetic alteration at chromosome 16, position 23630296, in gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCA... | ATTAAAATTGACTCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCA... | pathogenic | 249,422 |
A mutation at chromosome position 23630308 on chromosome 16 in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast'] | TCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACAC... | TCAAGAATAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACAC... | pathogenic | 249,425 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 23630315, gene PALB2 (partner and localizer of BRCA2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGA... | TAAATTCCGAAACAGAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGA... | pathogenic | 249,427 |
Clinical classification of chromosome 16, position 23630329, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | GAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATG... | GAGCATAGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATG... | pathogenic | 249,430 |
Benign or pathogenic: chromosome 16, position 23630335, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAAC... | AGGTATTACTATGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAAC... | pathogenic | 249,432 |
Variant in gene PALB2 (partner and localizer of BRCA2), located at chromosome 16 position 23630346: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | TGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCAC... | TGCATCCTTTATAGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCAC... | pathogenic | 249,438 |
Mutation at chromosome 16, position 23630358, within PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATG... | AGAAAAGGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATG... | pathogenic | 249,443 |
Clinical classification of chromosome 16, position 23630364, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTT... | GGAATCTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTT... | pathogenic | 249,446 |
Does the variant on chromosome 16 at location 23630369 affecting gene PALB2 (partner and localizer of BRCA2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATT... | CTGGGGCTCAGAGGTTACACAATTTGTCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATT... | pathogenic | 249,449 |
Located at chromosome 16 position 23630395, the variant affecting gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAG... | TCCAAGGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAG... | pathogenic | 249,451 |
Variant on chromosome 16, at position 23630400, affecting PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCA... | GGTGACATAGCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCA... | pathogenic | 249,454 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23630409 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAG... | GCCAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAG... | pathogenic | 249,456 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 23630411, gene PALB2 (partner and localizer of BRCA2): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGC... | CAGTAACTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGC... | pathogenic | 249,458 |
Mutation at chromosome 16, position 23630417, within PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGT... | CTGGGAAAAACTTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGT... | pathogenic | 249,461 |
Evaluate if the mutation on chromosome 16 at position 23630428 in PALB2 (partner and localizer of BRCA2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAG... | TTTATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAG... | pathogenic | 249,463 |
Variant at chromosome position 23630430, chromosome 16, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast'] | TATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGAT... | TATGTGGATTTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGAT... | pathogenic | 249,466 |
The genetic variant at chromosome 16, position 23630439, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | TTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCA... | TTGAAGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCA... | pathogenic | 249,467 |
Evaluate if the mutation on chromosome 16 at position 23630443 in PALB2 (partner and localizer of BRCA2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGC... | AGTGTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGC... | pathogenic | 249,468 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome 16, position 23630446—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGCAAC... | GTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGCAAC... | pathogenic | 249,470 |
Regarding the variant found on chromosome 16 at position 23630446 in gene PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast_carcinoma', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGCAAC... | GTTTTCCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGCAAC... | pathogenic | 249,471 |
Clinical significance of chromosome 16, position 23630451, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGCAACGTCTG... | CCTTCACACCAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGCAACGTCTG... | pathogenic | 249,473 |
The mutation impacting PALB2 (partner and localizer of BRCA2) on chromosome 16 at position 23630460: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGCAACGTCTGTCTCCCAGT... | CAGTGATTCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGCAACGTCTGTCTCCCAGT... | pathogenic | 249,476 |
Determine if the mutation at chromosome 16, position 23630467 in gene PALB2 (partner and localizer of BRCA2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGCAACGTCTGTCTCCCAGTTCAAGTA... | TCTCTGGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGCAACGTCTGTCTCCCAGTTCAAGTA... | pathogenic | 249,478 |
Variant on chromosome 16, at position 23630472, affecting PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGCAACGTCTGTCTCCCAGTTCAAGTATTCTC... | GGGAGAGCTTCTGCACCCCCATCTTCAACCCTACACCTAGGACATTTAGTAATGCAACATTTTCAGTTACCACACTGCACAGAAAAGATTAACCACTAGAACTGCTCCCCATTTTCTTATAAATCACCATAAGTGATTCTTCCAGAAACATTACACCATTTGAGTAGGAGAGGCATGAATAACTCTCATTTCACTCCGTCAAAATGCCTGTTAGATTTATTTTATTTTATTTTTGAGACAGAGTCTCACTCGCCCAGGCTGGAGTGCAGTGGTAAGATCTTGGCTCACTGCAACGTCTGTCTCCCAGTTCAAGTATTCTC... | benign | 249,481 |
For chromosome 16, position 23634820, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TGCAGTTTACTACAATTATAGCAGACTATTTCAAACTACTGGCTGGGCCTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCT... | TGCAGTTTACTACAATTATAGCAGACTATTTCAAACTACTGGCTGGGCCTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCT... | benign | 249,485 |
Clinical classification of chromosome 16, position 23634868, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGAT... | CTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGAT... | pathogenic | 249,489 |
Benign or pathogenic: chromosome 16, position 23634869, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATT... | TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATT... | pathogenic | 249,490 |
Evaluate if the mutation on chromosome 16 at position 23634870 in PALB2 (partner and localizer of BRCA2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'PALB2-related_disorder', 'Pancreatic_cancer,_susceptibility_to,_3', 'Precursor_B-cell_acute_lymphoblastic_leukemia'] | GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTA... | GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTA... | pathogenic | 249,492 |
Variant at chromosome position 23634870, chromosome 16, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast'] | GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTA... | GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTA... | pathogenic | 249,493 |
Regarding the variant at chromosome 16 and position 23634871, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Colonic_neoplasm', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTAC... | GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTAC... | pathogenic | 249,495 |
Variant chromosome 16, position 23634876, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGAT... | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGAT... | pathogenic | 249,497 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23634877 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast'] | CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATT... | CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATT... | pathogenic | 249,498 |
Variant in gene PALB2 (partner and localizer of BRCA2), located at chromosome 16 position 23634879: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGC... | CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGC... | pathogenic | 249,499 |
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