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 |
|---|---|---|---|---|---|
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 23634892, gene PALB2 (partner and localizer of BRCA2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATG... | AGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATG... | pathogenic | 249,502 |
For chromosome 16, position 23634892, 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'] | AGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATG... | AGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATG... | pathogenic | 249,503 |
Evaluate this variant at chromosome 16, position 23634893, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_pancreas'] | GCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGA... | GCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGA... | pathogenic | 249,504 |
Is the genetic mutation found on chromosome 16 at position 23634895, 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'] | ACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACT... | ACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACT... | pathogenic | 249,508 |
Is the genetic change at chromosome 16, position 23634897, within gene PALB2 (partner and localizer of BRCA2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTT... | TTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTT... | pathogenic | 249,510 |
Is chromosome 16, position 23634898, 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'] | TTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTG... | TTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTG... | pathogenic | 249,512 |
Chromosome 16, position 23634901, gene PALB2 (partner and localizer of BRCA2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTAT... | GGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTAT... | pathogenic | 249,514 |
Does the variant on chromosome 16 at location 23634926 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'] | GAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAA... | GAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAA... | pathogenic | 249,521 |
Chromosome 16, position 23634926, 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'] | GAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAA... | GAGGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAA... | pathogenic | 249,522 |
A genetic variant at chromosome 16, position 23634928, 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', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_disorder', 'Pancreatic_cancer,_susceptibility_to,_3'] | GGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAA... | GGTCAGGAGATAGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAA... | pathogenic | 249,523 |
Does the variant on chromosome 16 at location 23634953 affecting gene PALB2 (partner and localizer of BRCA2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Familial_pancreatic_carcinoma', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAA... | CCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAA... | pathogenic | 249,528 |
Does the genetic variant at chromosome 16, position 23634953, 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'] | CCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAA... | CCAACATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAA... | pathogenic | 249,529 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 23634957, gene PALB2 (partner and localizer of BRCA2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAG... | CATGGCAAAAACCCATCTCTACTGAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAG... | pathogenic | 249,530 |
Mutation found at chromosome 16 position 23634980, 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', 'Malignant_tumor_of_breast'] | GAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCA... | GAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCA... | pathogenic | 249,537 |
The mutation impacting PALB2 (partner and localizer of BRCA2) on chromosome 16 at position 23634993: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTAC... | TTAGCTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTAC... | pathogenic | 249,542 |
Does the chromosome 16 mutation at position 23634997 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'] | CTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAG... | CTGGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAG... | pathogenic | 249,544 |
Mutation at chromosome 16, position 23634999, within PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCA... | GGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCA... | pathogenic | 249,545 |
Mutation found at chromosome 16 position 23634999, 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'] | GGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCA... | GGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCA... | pathogenic | 249,546 |
Evaluate if the mutation on chromosome 16 at position 23635007 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'] | TGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTA... | TGGTGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTA... | pathogenic | 249,550 |
Variant in gene PALB2 (partner and localizer of BRCA2), located at chromosome 16 position 23635010: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | TGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCT... | TGGGCACCTGTAATCTCAGCTACTCAGGGGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCT... | pathogenic | 249,552 |
Does the chromosome 16 mutation at position 23635055 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', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome'] | TCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGT... | TCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGT... | pathogenic | 249,563 |
Is the variant located on chromosome 16 at position 23635060, 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'] | TGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGT... | TGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGT... | pathogenic | 249,564 |
The mutation impacting PALB2 (partner and localizer of BRCA2) on chromosome 16 at position 23635066: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATAT... | TGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATAT... | pathogenic | 249,566 |
A genetic alteration at chromosome 16, position 23635077, in gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast'] | GGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTT... | GGTTGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTT... | pathogenic | 249,570 |
For chromosome 16, position 23635080, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast'] | TGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGA... | TGCAGTGAGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGA... | pathogenic | 249,571 |
The genetic variant at chromosome 16, position 23635087, 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'] | AGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGT... | AGCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGT... | pathogenic | 249,572 |
Evaluate if the mutation on chromosome 16 at position 23635088 in PALB2 (partner and localizer of BRCA2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTC... | GCTGAGATAGCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTC... | pathogenic | 249,573 |
Benign or pathogenic: chromosome 16, position 23635097, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACA... | GCGCCACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACA... | pathogenic | 249,578 |
Mutation at chromosome 16, position 23635102, within PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTG... | ACTGCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTG... | pathogenic | 249,582 |
Is the genetic variant on chromosome 16, position 23635105, 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'] | GCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACT... | GCACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACT... | pathogenic | 249,583 |
Located at chromosome 16 position 23635107, 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'] | ACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGG... | ACCCTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGG... | pathogenic | 249,584 |
A genetic alteration at chromosome 16, position 23635110, 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'] | CTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTG... | CTATCCGGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTG... | pathogenic | 249,586 |
Chromosome 16, position 23635116, 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'] | GGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGG... | GGGGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGG... | pathogenic | 249,589 |
Is the genetic variant on chromosome 16, position 23635118, 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'] | GGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCA... | GGCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCA... | pathogenic | 249,590 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23635119 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCAC... | GCGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCAC... | pathogenic | 249,591 |
Considering the genetic mutation at chromosome 16, position 23635120, 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'] | CGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACA... | CGACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACA... | pathogenic | 249,592 |
Clinical significance of chromosome 16, position 23635121, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACAT... | GACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACAT... | pathogenic | 249,594 |
Clinical significance of chromosome 16, position 23635121, 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'] | GACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACAT... | GACAAGGGTGAAACTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACAT... | pathogenic | 249,595 |
Evaluate if the mutation on chromosome 16 at position 23635134 in PALB2 (partner and localizer of BRCA2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | CTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTG... | CTGTCTCAACAACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTG... | pathogenic | 249,601 |
Is the genetic change at chromosome 16, position 23635145, within gene PALB2 (partner and localizer of BRCA2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGA... | ACAATAAAAAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGA... | pathogenic | 249,604 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 23635153, gene PALB2 (partner and localizer of BRCA2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | AAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAG... | AAAAAACTACTGTGTAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAG... | pathogenic | 249,606 |
Is chromosome 16, position 23635167, 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'] | TAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGC... | TAAAAAACAGTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGC... | pathogenic | 249,610 |
Regarding the variant at chromosome 16 and position 23635176, 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'] | GTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCC... | GTATTTCTAGATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCC... | pathogenic | 249,615 |
Is the genetic variant on chromosome 16, position 23635185, gene PALB2 (partner and localizer of BRCA2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast'] | GATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGA... | GATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGA... | pathogenic | 249,619 |
Is the genetic variant on chromosome 16, position 23635186, gene PALB2 (partner and localizer of BRCA2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast'] | ATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAA... | ATTACTGGATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAA... | pathogenic | 249,620 |
Benign or pathogenic: chromosome 16, position 23635193, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGC... | GATTGCCTACTTTTTGATGACTTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGC... | pathogenic | 249,622 |
Is chromosome 16, position 23635214, 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'] | TTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCAC... | TTTGTATCCTTGTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCAC... | pathogenic | 249,623 |
For chromosome 16, position 23635225, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast'] | GTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACC... | GTTCGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACC... | pathogenic | 249,626 |
Evaluate this variant at chromosome 16, position 23635228, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAG... | CGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAG... | pathogenic | 249,627 |
A genetic alteration at chromosome 16, position 23635228, in gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_cancer_predisposition'] | CGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAG... | CGCTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAG... | pathogenic | 249,628 |
Is the genetic variant on chromosome 16, position 23635230, 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'] | CTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGAT... | CTTAAAAGATGATGAAAAGTCACAATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGAT... | pathogenic | 249,631 |
Chromosome 16, position 23635253, 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'] | AATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATAT... | AATTATTATTTTTGGATTAATTAGTCACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATAT... | pathogenic | 249,635 |
The mutation impacting PALB2 (partner and localizer of BRCA2) on chromosome 16 at position 23635279: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_disorder'] | ACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGA... | ACAGCTTATAGACCAAGTCCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGA... | pathogenic | 249,642 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23635297 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGT... | CCATGTCCAATGGTACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGT... | pathogenic | 249,648 |
Is chromosome 16, position 23635311, 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'] | ACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCA... | ACAGAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCA... | pathogenic | 249,651 |
Gene mutation in PALB2 (partner and localizer of BRCA2) at chromosome 16, position 23635314—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCC... | GAGCAGCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCC... | pathogenic | 249,652 |
Clinically, how would you classify the variant at chromosome 16, position 23635319, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast'] | GCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAA... | GCCTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAA... | pathogenic | 249,654 |
Evaluate if the mutation on chromosome 16 at position 23635321 in PALB2 (partner and localizer of BRCA2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | CTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAA... | CTGCTACCTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAA... | pathogenic | 249,656 |
Chromosome 16, position 23635328, 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'] | CTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTG... | CTATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTG... | pathogenic | 249,659 |
A genetic alteration at chromosome 16, position 23635329, 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', 'PALB2-related_cancer_predisposition'] | TATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGT... | TATTTTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGT... | pathogenic | 249,660 |
Chromosome 16, position 23635333, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast'] | TTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCT... | TTTGCACATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCT... | pathogenic | 249,661 |
Variant on chromosome 16, at position 23635339, affecting PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | CATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGG... | CATAAAGTTGTTTTTTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGG... | pathogenic | 249,664 |
Assess the variant on chromosome 16, position 23635353, impacting PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast', 'Family_history_of_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'Neoplasm_of_uterus'] | TTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTG... | TTTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTG... | pathogenic | 249,667 |
The genetic variant at chromosome 16, position 23635354, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGC... | TTGTTTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGC... | pathogenic | 249,668 |
Located at chromosome 16 position 23635358, 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'] | TTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTA... | TTTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTA... | pathogenic | 249,671 |
A genetic variant on chromosome 16, position 23635359, 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'] | TTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAG... | TTAGGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAG... | pathogenic | 249,673 |
A genetic variant on chromosome 16, position 23635362, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | GGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATA... | GGAACTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATA... | pathogenic | 249,674 |
Considering the genetic mutation at chromosome 16, position 23635366, 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'] | CTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTT... | CTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTT... | pathogenic | 249,676 |
A genetic variant on chromosome 16, position 23635366, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Colorectal_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTT... | CTTGGCTGTAAAGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTT... | pathogenic | 249,677 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 23635377, gene PALB2 (partner and localizer of BRCA2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAG... | AGTGCATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAG... | pathogenic | 249,679 |
Is the genetic change at chromosome 16, position 23635382, within gene PALB2 (partner and localizer of BRCA2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | ATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCT... | ATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCT... | pathogenic | 249,681 |
Located at chromosome 16 position 23635382, 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'] | ATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCT... | ATATAAAGGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCT... | pathogenic | 249,683 |
Chromosome 16, position 23635389, 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'] | GGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCT... | GGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCT... | pathogenic | 249,685 |
Variant on chromosome 16, at position 23635389, affecting PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCT... | GGTGCGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCT... | pathogenic | 249,686 |
Does the genetic variant at chromosome 16, position 23635393, 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'] | CGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTC... | CGTTGGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTC... | pathogenic | 249,688 |
A genetic alteration at chromosome 16, position 23635397, 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'] | GGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTA... | GGAACACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTA... | pathogenic | 249,689 |
Variant chromosome 16, position 23635402, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGA... | ACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGA... | pathogenic | 249,690 |
A genetic alteration at chromosome 16, position 23635402, in gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | 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', 'likely other unspecified diseases'] | ACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGA... | ACAGTCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGA... | pathogenic | 249,691 |
Is the genetic variant on chromosome 16, position 23635406, 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'] | TCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGAC... | TCACAGTTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGAC... | pathogenic | 249,692 |
Determine whether the variant at chromosome 16, position 23635412, in gene PALB2 (partner and localizer of BRCA2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast'] | TTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAA... | TTACAAGTTGACTGGCTGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAA... | pathogenic | 249,694 |
Does the variant on chromosome 16 at location 23635428 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'] | TGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGG... | TGCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGG... | pathogenic | 249,701 |
Is chromosome 16, position 23635429, 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'] | GCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGA... | GCTCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGA... | pathogenic | 249,703 |
Classify the chromosome 16 variant at position 23635431 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'] | TCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGT... | TCTGGCACATAGCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGT... | pathogenic | 249,704 |
Regarding the variant at chromosome 16 and position 23635442, 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'] | GCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGT... | GCTGAGTAGTTGAGACAGACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGT... | pathogenic | 249,707 |
A mutation at chromosome position 23635459 on chromosome 16 in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGG... | GACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGG... | pathogenic | 249,712 |
Evaluate this variant at chromosome 16, position 23635460, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGT... | ACAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGT... | pathogenic | 249,714 |
Variant chromosome 16, position 23635461, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast'] | CAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTT... | CAGAACACAAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTT... | pathogenic | 249,715 |
Variant at chromosome position 23635469, 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', 'Malignant_tumor_of_breast'] | AAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTA... | AAAGACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTA... | pathogenic | 249,718 |
Mutation at chromosome 16, position 23635473, within PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCAC... | ACTAAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCAC... | pathogenic | 249,719 |
The genetic variant at chromosome 16, position 23635476, 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'] | AAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCA... | AAAATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCA... | pathogenic | 249,720 |
A genetic alteration at chromosome 16, position 23635478, in gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast'] | AATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGA... | AATCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGA... | pathogenic | 249,722 |
Assess the variant on chromosome 16, position 23635480, impacting PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast'] | TCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACT... | TCTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACT... | pathogenic | 249,723 |
A genetic alteration at chromosome 16, position 23635481, 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'] | CTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTG... | CTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTG... | pathogenic | 249,724 |
Evaluate if the mutation on chromosome 16 at position 23635481 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'] | CTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTG... | CTGTGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTG... | pathogenic | 249,725 |
Is the genetic change at chromosome 16, position 23635484, within gene PALB2 (partner and localizer of BRCA2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAG... | TGCTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAG... | pathogenic | 249,726 |
Chromosome 16, position 23635486, 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', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | CTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTG... | CTATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTG... | pathogenic | 249,727 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 23635488, gene PALB2 (partner and localizer of BRCA2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | ATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCA... | ATCTGGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCA... | pathogenic | 249,728 |
The mutation impacting PALB2 (partner and localizer of BRCA2) on chromosome 16 at position 23635492: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'Pancreatic_cancer,_susceptibility_to,_3'] | GGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGG... | GGCCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGG... | pathogenic | 249,729 |
Does the genetic variant at chromosome 16, position 23635494, 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'] | CCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTG... | CCCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTG... | pathogenic | 249,732 |
The mutation in gene PALB2 (partner and localizer of BRCA2) at chromosome 16, position 23635495—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGC... | CCATTCTAGAAAGTATGCTGATCCCTAGTTTAGAGCCACAATGAATTACCCAGATTTTGTGCTTAGTTCATCAGATATGATTAAATTCTCAGTAAATGAATTGAAAGTTTAAATTACAATGTATCGTTGCTGCCCATCCTCCAAAATTCTGTGTCCCTTGGAGGCCTTAGAGACACTGCATTAGATATTTTATCCAAAAAAGTTGCTTAGGCCTTTTCATTACATGATGACTTCTAAAAGAGATAGTCAGTGGAGTCTTAGTCTTGTTTTTTTTTGAGAGAGGGTTTTGCTCTATCACCCAGACTGGAGTGCAGTGGTGC... | pathogenic | 249,733 |
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