question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
The chromosome 16, position 23635499 genetic variant in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATC... | TCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATC... | pathogenic | 249,735 |
Determine if the mutation at chromosome 16, position 23635503 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_cancer-predisposing_syndrome'] | GAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAG... | GAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAG... | pathogenic | 249,737 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 23635504, gene PALB2 (partner and localizer of BRCA2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGC... | AAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGC... | pathogenic | 249,739 |
Does the variant impacting PALB2 (partner and localizer of BRCA2) on chromosome 16, position 23635504, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | 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'] | AAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGC... | AAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGC... | pathogenic | 249,740 |
A genetic variant on chromosome 16, position 23635512, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCA... | CTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCA... | pathogenic | 249,745 |
Variant chromosome 16, position 23635514, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGC... | GATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGC... | pathogenic | 249,748 |
Benign or pathogenic: chromosome 16, position 23635530, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCT... | CCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCT... | pathogenic | 249,752 |
Clinical significance of chromosome 16, position 23635534, 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'] | AATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAG... | AATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAG... | pathogenic | 249,754 |
For chromosome 16, position 23635536, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTG... | TGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTG... | pathogenic | 249,757 |
Variant at chromosome position 23635549, 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'] | TTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTC... | TTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTC... | pathogenic | 249,760 |
Is the genetic mutation found on chromosome 16 at position 23635558, 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'] | TAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCA... | TAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCA... | pathogenic | 249,763 |
Evaluate the clinical significance of the mutation at chromosome 16, position 23635559 in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_cancer_of_breast'] | AGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAA... | AGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAA... | pathogenic | 249,766 |
Chromosome 16, position 23635569, 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'] | ATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAA... | ATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAA... | pathogenic | 249,768 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23635583 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast'] | TCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATAC... | TCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATAC... | pathogenic | 249,769 |
Clinically, how would you classify the variant at chromosome 16, position 23635591, 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'] | TGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACAC... | TGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACAC... | pathogenic | 249,773 |
Assess the variant on chromosome 16, position 23635593, 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'] | AATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCT... | AATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCT... | pathogenic | 249,774 |
Chromosome 16, position 23635595, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast'] | TTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGG... | TTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGG... | pathogenic | 249,776 |
Benign or pathogenic: chromosome 16, position 23635597, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCT... | GAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCT... | pathogenic | 249,777 |
Located at chromosome 16 position 23635611, 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'] | CAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATT... | CAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATT... | pathogenic | 249,786 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 23635611, gene PALB2 (partner and localizer of BRCA2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PALB2-related_disorder'] | CAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATT... | CAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATT... | pathogenic | 249,787 |
Considering the genetic mutation at chromosome 16, position 23635613, impacting PALB2 (partner and localizer of BRCA2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast_carcinoma', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTT... | ATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTT... | pathogenic | 249,788 |
Regarding the variant found on chromosome 16 at position 23635638 in gene PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCA... | AAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCA... | pathogenic | 249,796 |
Benign or pathogenic: chromosome 16, position 23635646, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | TGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCC... | TGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCC... | pathogenic | 249,799 |
Does the variant impacting PALB2 (partner and localizer of BRCA2) on chromosome 16, position 23635648, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAA... | TCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAA... | pathogenic | 249,800 |
Evaluate this variant at chromosome 16, position 23635652, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Carcinoma_of_colon', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Pancreatic_cancer,_susceptibility_to,_3'] | TTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTG... | TTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTG... | pathogenic | 249,801 |
Considering the variant on chromosome 16, location 23635658, 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; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCA... | GCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCA... | pathogenic | 249,802 |
Variant in PALB2 (partner and localizer of BRCA2), chromosome 16, position 23635659—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | CCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAA... | CCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAA... | pathogenic | 249,803 |
Classify the chromosome 16 variant at position 23635659 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'] | CCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAA... | CCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAA... | pathogenic | 249,804 |
Variant at chromosome position 23635660, 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'] | CTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAA... | CTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAA... | pathogenic | 249,805 |
Does the variant on chromosome 16 at location 23635685 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'] | TATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCA... | TATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCA... | pathogenic | 249,813 |
Located at chromosome 16 position 23635698, 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', 'Malignant_tumor_of_breast'] | TGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCG... | TGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCG... | pathogenic | 249,816 |
Mutation at chromosome 16, position 23635704, within PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast'] | GGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGC... | GGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGC... | pathogenic | 249,818 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23635706 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast'] | CCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTG... | CCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTG... | pathogenic | 249,820 |
Is chromosome 16, position 23635706, 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', 'PALB2-related_disorder'] | CCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTG... | CCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTG... | pathogenic | 249,821 |
Variant on chromosome 16, at position 23635713, 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_breast_ovarian_cancer_syndrome'] | ATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTAC... | ATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTAC... | pathogenic | 249,824 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23635720 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTG... | GATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTG... | pathogenic | 249,827 |
Benign or pathogenic: chromosome 16, position 23635725, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCA... | CTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCA... | pathogenic | 249,828 |
Clinical classification of chromosome 16, position 23635743, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGT... | AGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGT... | pathogenic | 249,830 |
Is the genetic mutation found on chromosome 16 at position 23635759, 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_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACA... | TGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACA... | pathogenic | 249,833 |
A genetic variant on chromosome 16, position 23635762, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast'] | TTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTC... | TTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTC... | pathogenic | 249,834 |
Variant in gene PALB2 (partner and localizer of BRCA2), located at chromosome 16 position 23635775: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | AGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAA... | AGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAA... | pathogenic | 249,836 |
A genetic alteration at chromosome 16, position 23635784, 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'] | CTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTT... | CTCTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTT... | pathogenic | 249,839 |
Assess the variant on chromosome 16, position 23635786, 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'] | CTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCT... | CTATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCT... | pathogenic | 249,842 |
Chromosome 16, position 23635787, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_disorder', 'Pancreatic_cancer,_susceptibility_to,_3'] | TATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTA... | TATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTA... | pathogenic | 249,844 |
Is chromosome 16, position 23635787, gene PALB2 (partner and localizer of BRCA2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'M... | TATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTA... | TATCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTA... | pathogenic | 249,845 |
Evaluate the clinical significance of the mutation at chromosome 16, position 23635810 in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCC... | GGTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCC... | pathogenic | 249,850 |
Is the genetic mutation found on chromosome 16 at position 23635811, 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'] | GTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCA... | GTGCAATCACAGCTCACCGCAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCA... | pathogenic | 249,852 |
A genetic variant on chromosome 16, position 23635830, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast'] | CAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTG... | CAGCCTCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTG... | pathogenic | 249,856 |
Does the chromosome 16 mutation at position 23635838 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'] | ACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTA... | ACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTA... | pathogenic | 249,858 |
For chromosome 16, position 23635842, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATAT... | CCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATAT... | pathogenic | 249,860 |
Mutation found at chromosome 16 position 23635848, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTA... | CTCAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTA... | pathogenic | 249,861 |
Chromosome 16, position 23635850, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_prostate_cancer', 'Malignant_tumor_of_breast', 'Pancreatic_cancer,_susceptibility_to,_3'] | CAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAA... | CAAGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAA... | pathogenic | 249,862 |
Clinically, how would you classify the variant at chromosome 16, position 23635852, 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'] | AGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACA... | AGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACA... | pathogenic | 249,863 |
Is the variant located on chromosome 16 at position 23635852, 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'] | AGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACA... | AGTGATCCTCCCACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACA... | pathogenic | 249,864 |
A genetic variant on chromosome 16, position 23635863, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_disorder'] | CACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATT... | CACCTCAGCCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATT... | pathogenic | 249,868 |
Variant at chromosome 16, position 23635871, gene PALB2 (partner and localizer of BRCA2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast'] | CCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTT... | CCTCTCAAGTAGCTGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTT... | pathogenic | 249,871 |
Evaluate if the mutation on chromosome 16 at position 23635884 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', 'Malignant_tumor_of_breast'] | TGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTG... | TGAAACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTG... | pathogenic | 249,873 |
Regarding the variant at chromosome 16 and position 23635887, 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_cancer-predisposing_syndrome'] | AACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTT... | AACCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTT... | pathogenic | 249,875 |
Is chromosome 16, position 23635889, gene PALB2 (partner and localizer of BRCA2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCA... | CCACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCA... | pathogenic | 249,877 |
Is the chromosome 16, position 23635891 variant in PALB2 (partner and localizer of BRCA2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | ACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGC... | ACAGGCATATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGC... | pathogenic | 249,878 |
Does the chromosome 16 mutation at position 23635899 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'] | ATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAG... | ATACCACCACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAG... | pathogenic | 249,882 |
The genetic variant at chromosome 16, position 23635906, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTC... | CACACCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTC... | pathogenic | 249,884 |
Assess the variant on chromosome 16, position 23635910, impacting PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast'] | CCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGC... | CCTGGCTAATTTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGC... | pathogenic | 249,886 |
The genetic variant at chromosome 16, position 23635920, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | TTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGC... | TTTTCTATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGC... | pathogenic | 249,888 |
A genetic variant on chromosome 16, position 23635925, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGT... | TATATTTTTTTTTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGT... | pathogenic | 249,890 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome 16, position 23635936—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Gastric_cancer'] | TTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGG... | TTGTAGAGATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGG... | pathogenic | 249,894 |
Variant in gene PALB2 (partner and localizer of BRCA2), located at chromosome 16 position 23635944: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGA... | ATGGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGA... | pathogenic | 249,895 |
Regarding the variant found on chromosome 16 at position 23635946 in gene PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_disorder', 'Pancreatic_cancer,_susceptibility_to,_3'] | GGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATT... | GGGGTTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATT... | pathogenic | 249,897 |
Does the chromosome 16 mutation at position 23635950 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'] | TTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAA... | TTTCATCATTTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAA... | pathogenic | 249,898 |
Clinical significance of chromosome 16, position 23635961, 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'] | TACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGT... | TACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGT... | pathogenic | 249,902 |
A genetic alteration at chromosome 16, position 23635988, in gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast_carcinoma', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTT... | CTCAAGCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTT... | pathogenic | 249,903 |
Regarding the variant found on chromosome 16 at position 23635993 in gene PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTT... | GCAATCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTT... | pathogenic | 249,904 |
Evaluate this variant at chromosome 16, position 23635997, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast'] | TCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTC... | TCCTCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTC... | pathogenic | 249,905 |
Variant in PALB2 (partner and localizer of BRCA2), chromosome 16, position 23636001—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCT... | CCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCT... | pathogenic | 249,907 |
Gene mutation in PALB2 (partner and localizer of BRCA2) at chromosome 16, position 23636007—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAG... | TTGGCCTCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAG... | pathogenic | 249,909 |
Variant chromosome 16, position 23636013, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAA... | TCCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAA... | pathogenic | 249,912 |
Variant chromosome 16, position 23636014, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAAT... | CCCGAAGTGCTGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAAT... | pathogenic | 249,914 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23636024 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGAT... | TGGGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGAT... | pathogenic | 249,918 |
A genetic variant at chromosome 16, position 23636026, 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'] | GGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTC... | GGATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTC... | pathogenic | 249,919 |
Does the genetic variant at chromosome 16, position 23636028, impacting gene PALB2 (partner and localizer of BRCA2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | ATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTA... | ATTACAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTA... | pathogenic | 249,921 |
Classify the chromosome 16 variant at position 23636032 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'] | CAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTC... | CAGGGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTC... | pathogenic | 249,922 |
Is the variant located on chromosome 16 at position 23636035, gene PALB2 (partner and localizer of BRCA2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Breast_and/or_ovarian_cancer', 'Breast_cancer,_susceptibility_to', 'Breast_carcinoma', 'Carcinoma_of_pancreas', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Heredita... | GGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACA... | GGGTGAGCCACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACA... | pathogenic | 249,925 |
Evaluate the clinical significance of the mutation at chromosome 16, position 23636043 in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTG... | CACCAAGCCCAACATAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTG... | pathogenic | 249,931 |
Chromosome 16, position 23636057, gene PALB2 (partner and localizer of BRCA2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | TAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAA... | TAGAGTCTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAA... | pathogenic | 249,935 |
Mutation found at chromosome 16 position 23636063, 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'] | CTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTT... | CTTCCTCTAGTACACATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTT... | pathogenic | 249,936 |
Classify the chromosome 16 variant at position 23636078 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'] | ATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACA... | ATTCCATTTTACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACA... | pathogenic | 249,941 |
Clinical significance of chromosome 16, position 23636088, 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'] | ACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGT... | ACTTCAAAAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGT... | pathogenic | 249,945 |
Is the variant located on chromosome 16 at position 23636095, gene PALB2 (partner and localizer of BRCA2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast'] | AAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGC... | AAACACTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGC... | pathogenic | 249,948 |
Chromosome 16, position 23636100, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast'] | CTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCT... | CTTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCT... | pathogenic | 249,949 |
The mutation impacting PALB2 (partner and localizer of BRCA2) on chromosome 16 at position 23636101: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | TTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTG... | TTTCTATGTTAGCTGTGAAGCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTG... | pathogenic | 249,950 |
A genetic variant on chromosome 16, position 23636120, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast'] | GCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCT... | GCTTCTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCT... | pathogenic | 249,956 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 23636124, gene PALB2 (partner and localizer of BRCA2): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAA... | CTACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAA... | pathogenic | 249,959 |
Regarding the variant at chromosome 16 and position 23636125, 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_cancer-predisposing_syndrome'] | TACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAAT... | TACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAAT... | pathogenic | 249,961 |
Clinical classification of chromosome 16, position 23636126, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATC... | ACCCAAAGAATTGTATTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATC... | pathogenic | 249,962 |
Chromosome 16, position 23636141, 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'] | TTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAG... | TTGAACCTGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAG... | pathogenic | 249,963 |
Considering the genetic mutation at chromosome 16, position 23636148, impacting PALB2 (partner and localizer of BRCA2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGG... | TGAATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGG... | pathogenic | 249,965 |
Regarding the variant at chromosome 16 and position 23636150, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are 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'] | AATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTG... | AATATGTAATATTACGTAAACAACCAATACATTTTCCTTTTCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTG... | pathogenic | 249,966 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 23636190, gene PALB2 (partner and localizer of BRCA2): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGG... | TCAGTGTTGAATTGTTTCAGCTCTATTAGTGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGG... | pathogenic | 249,973 |
Is the genetic variant on chromosome 16, position 23636219, 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'] | TGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAA... | TGAACTCTGGCACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAA... | pathogenic | 249,983 |
Is chromosome 16, position 23636230, 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'] | ACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAAC... | ACCATACCGCCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAAC... | pathogenic | 249,986 |
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