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 |
|---|---|---|---|---|---|
Variant in gene MEN1 (menin 1), located at chromosome 11 position 64804753: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCC... | AGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCC... | pathogenic | 177,630 |
Evaluate this variant at chromosome 11, position 64804753, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCC... | AGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCC... | pathogenic | 177,631 |
Variant chromosome 11, position 64804775, gene MEN1 (menin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCC... | GCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCC... | pathogenic | 177,640 |
Mutation at chromosome 11, position 64804777, within MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | ACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGT... | ACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGT... | pathogenic | 177,643 |
Determine if the mutation at chromosome 11, position 64804807 in gene MEN1 (menin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCG... | GCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCG... | pathogenic | 177,656 |
Evaluate the clinical significance of the mutation at chromosome 11, position 64804829 in gene MEN1 (menin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCT... | GCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCT... | benign | 177,665 |
Does the chromosome 11 mutation at position 64804829 within gene MEN1 (menin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCT... | GCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCT... | benign | 177,666 |
The chromosome 11, position 64805022 genetic variant in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCC... | GGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCC... | pathogenic | 177,669 |
Evaluate the clinical significance of the mutation at chromosome 11, position 64805101 in gene MEN1 (menin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | CCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCT... | CCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCT... | pathogenic | 177,688 |
The chromosome 11, position 64805107 genetic variant in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | AGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCC... | AGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCC... | pathogenic | 177,690 |
A genetic alteration at chromosome 11, position 64805117, in gene MEN1 (menin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | ATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCC... | ATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCC... | pathogenic | 177,695 |
Does the variant impacting MEN1 (menin 1) on chromosome 11, position 64805127, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTC... | GCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTC... | pathogenic | 177,698 |
Is the genetic mutation found on chromosome 11 at position 64805129, within the gene MEN1 (menin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGC... | CCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGC... | pathogenic | 177,699 |
Is chromosome 11, position 64805130, gene MEN1 (menin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCG... | CCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCG... | pathogenic | 177,701 |
Does the chromosome 11 mutation at position 64805159 within gene MEN1 (menin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGG... | CCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGG... | pathogenic | 177,708 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 64805162, gene MEN1 (menin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAG... | CGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAG... | pathogenic | 177,709 |
Benign or pathogenic: chromosome 11, position 64805169, gene MEN1 (menin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | TGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAG... | TGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAG... | pathogenic | 177,710 |
Considering the genetic mutation at chromosome 11, position 64805181, impacting MEN1 (menin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | TCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGA... | TCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGA... | pathogenic | 177,717 |
Does the chromosome 11 mutation at position 64805205 within gene MEN1 (menin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCA... | CGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCA... | benign | 177,723 |
Variant at chromosome position 64805645, chromosome 11, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | TCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTC... | TCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTC... | pathogenic | 177,733 |
Gene MEN1 (menin 1) variant at chromosome 11, position 64805683—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGG... | GCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGG... | pathogenic | 177,745 |
A genetic alteration at chromosome 11, position 64805709, in gene MEN1 (menin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGG... | AGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGG... | pathogenic | 177,751 |
Is the chromosome 11, position 64805720 variant in MEN1 (menin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTG... | GGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTG... | pathogenic | 177,752 |
Gene MEN1 (menin 1) variant at chromosome 11, position 64805730—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTG... | GGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTG... | pathogenic | 177,755 |
Variant chromosome 11, position 64806267, gene MEN1 (menin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGT... | GTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGT... | pathogenic | 177,789 |
Is the variant located on chromosome 11 at position 64806274, gene MEN1 (menin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | TAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTG... | TAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTG... | pathogenic | 177,792 |
Assess the variant on chromosome 11, position 64806275, impacting MEN1 (menin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGT... | AGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGT... | pathogenic | 177,793 |
Chromosome 11, position 64806310, gene MEN1 (menin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAG... | AACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAG... | pathogenic | 177,802 |
Is the genetic variant on chromosome 11, position 64806337, gene MEN1 (menin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCC... | GGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCC... | pathogenic | 177,811 |
Considering the genetic mutation at chromosome 11, position 64806382, impacting MEN1 (menin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGC... | TCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGC... | benign | 177,832 |
Evaluate the clinical significance of the mutation at chromosome 11, position 64807108 in gene MEN1 (menin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCC... | GCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCC... | benign | 177,862 |
Variant at chromosome position 64807179, chromosome 11, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | TCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAA... | TCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAA... | pathogenic | 177,868 |
Determine if the mutation at chromosome 11, position 64807206 in gene MEN1 (menin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGC... | CACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGC... | pathogenic | 177,872 |
The chromosome 11, position 64807216 genetic variant in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | CCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTC... | CCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTC... | pathogenic | 177,878 |
The genetic variant at chromosome 11, position 64807592, affecting gene MEN1 (menin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGC... | CCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGC... | pathogenic | 177,902 |
Does the variant on chromosome 11 at location 64807610 affecting gene MEN1 (menin 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGT... | GCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGT... | pathogenic | 177,906 |
Clinically, how would you classify the variant at chromosome 11, position 64807649, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGG... | AGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGG... | pathogenic | 177,915 |
A genetic variant on chromosome 11, position 64807684, affects the gene MEN1 (menin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCG... | TGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCG... | benign | 177,927 |
The mutation impacting MEN1 (menin 1) on chromosome 11 at position 64807913: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATG... | GGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATG... | pathogenic | 177,942 |
Clinical significance of chromosome 11, position 64807919, gene MEN1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGG... | GTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGG... | pathogenic | 177,944 |
Variant chromosome 11, position 64807939, gene MEN1 (menin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGG... | AAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGG... | pathogenic | 177,948 |
A mutation at chromosome position 64807980 on chromosome 11 in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGT... | AATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGT... | pathogenic | 177,957 |
The mutation in gene MEN1 (menin 1) at chromosome 11, position 64808018—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | ACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGT... | ACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGT... | pathogenic | 177,964 |
Gene MEN1 (menin 1) variant at chromosome position 64809667 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | ATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTT... | ATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTT... | pathogenic | 178,001 |
Does the chromosome 11 mutation at position 64809677 within gene MEN1 (menin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | CCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCG... | CCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCG... | pathogenic | 178,004 |
The genetic variant at chromosome 11, position 64809693, affecting gene MEN1 (menin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | ACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAG... | ACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAG... | pathogenic | 178,011 |
Clinical significance of chromosome 11, position 64809702, gene MEN1 (menin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCT... | GTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCT... | pathogenic | 178,016 |
Determine if the mutation at chromosome 11, position 64809707 in gene MEN1 (menin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | ATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCA... | ATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCA... | pathogenic | 178,017 |
Gene mutation in MEN1 (menin 1) at chromosome 11, position 64809723—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTA... | CCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTA... | pathogenic | 178,023 |
A genetic variant at chromosome 11, position 64809742, affecting gene MEN1 (menin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGA... | GAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGA... | pathogenic | 178,025 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 64809749, gene MEN1 (menin 1): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | TTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCG... | TTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCG... | pathogenic | 178,028 |
Is the genetic change at chromosome 11, position 64809759, within gene MEN1 (menin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1', 'likely other unspecified diseases'] | TGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACAT... | TGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACAT... | pathogenic | 178,031 |
A genetic variant on chromosome 11, position 64809766, affects the gene MEN1 (menin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAG... | CCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAG... | pathogenic | 178,035 |
Chromosome 11, position 64809769, gene MEN1 (menin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACC... | CCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACC... | pathogenic | 178,037 |
Mutation at chromosome 11, position 64809777, within MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | CTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCT... | CTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCT... | pathogenic | 178,041 |
Clinical significance of chromosome 11, position 64809789, gene MEN1 (menin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | ATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAA... | ATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAA... | pathogenic | 178,043 |
Gene MEN1 (menin 1) variant at chromosome position 64809802 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGC... | AAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGC... | pathogenic | 178,045 |
Regarding the variant at chromosome 11 and position 64809817, affecting gene MEN1 (menin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | TCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTC... | TCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTC... | pathogenic | 178,051 |
Variant chromosome 11, position 64809833, gene MEN1 (menin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTG... | GGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTG... | pathogenic | 178,056 |
A genetic alteration at chromosome 11, position 64809835, in gene MEN1 (menin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGA... | GTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGA... | pathogenic | 178,057 |
Mutation found at chromosome 11 position 64809857, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGG... | GTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGG... | pathogenic | 178,061 |
The mutation in gene MEN1 (menin 1) at chromosome 11, position 64809857—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lipoma,_somatic', 'Multiple_endocrine_neoplasia,_type_1'] | GTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGG... | GTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGG... | pathogenic | 178,062 |
Variant at chromosome 11, position 64809871, gene MEN1 (menin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | TGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTA... | TGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTA... | pathogenic | 178,068 |
Is chromosome 11, position 64809872, gene MEN1 (menin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAA... | GGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAA... | pathogenic | 178,069 |
Is the genetic mutation found on chromosome 11 at position 64809875, within the gene MEN1 (menin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACAT... | GTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACAT... | pathogenic | 178,072 |
The chromosome 11, position 64809886 genetic variant in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGG... | GGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGG... | pathogenic | 178,076 |
Variant in gene MEN1 (menin 1), located at chromosome 11 position 64809897: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | CTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTG... | CTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTG... | pathogenic | 178,081 |
A mutation at chromosome position 64809902 on chromosome 11 in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGG... | GTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGG... | pathogenic | 178,082 |
Gene MEN1 (menin 1) variant at chromosome 11, position 64809903—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | TATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGC... | TATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGC... | pathogenic | 178,083 |
Variant at chromosome 11, position 64809909, gene MEN1 (menin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACT... | GGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACT... | pathogenic | 178,086 |
Does the genetic variant at chromosome 11, position 64809941, impacting gene MEN1 (menin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCA... | GCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCA... | pathogenic | 178,094 |
Variant at chromosome position 64809987, chromosome 11, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCAC... | GCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCAC... | pathogenic | 178,109 |
Determine whether the variant at chromosome 11, position 64810004, in gene MEN1 (menin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | TGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCT... | TGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCT... | pathogenic | 178,115 |
Considering the variant on chromosome 11, location 64810092, involving gene MEN1 (menin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTG... | GGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTG... | pathogenic | 178,145 |
Variant at chromosome position 64810103, chromosome 11, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTA... | CCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTA... | pathogenic | 178,148 |
Considering the variant on chromosome 11, location 65182883, involving gene CAPN1 (calpain 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | GGCTGCGAGACCAGCGAAAAGCCCTGACTTGGGGGGGTCTCGGGAGTCTCTGCAGTCTCCCCACCCACACCCCCGGCCTCCGCGCCGAATCCTGGCCCCCCAACTTCTTGCAGCCCGTGAAGCAGGATCTCAGGGTCCTGGGGGTGGGGAGAGGGGGCTGCCGTCCTGCTCGCAGCCTCTGCCGCCCTCTCCTGGGTAAGGTGACACATGGGCGCTTCCAGGTGGGTGGGCTGAGAGCCTGGGGGAGAGAACAGGGATGTCCACCTCTCTAAGTTTCCAGGTTCAAGAAACCCCAGAACGTTAGAGAAAGATGGGCTCCC... | GGCTGCGAGACCAGCGAAAAGCCCTGACTTGGGGGGGTCTCGGGAGTCTCTGCAGTCTCCCCACCCACACCCCCGGCCTCCGCGCCGAATCCTGGCCCCCCAACTTCTTGCAGCCCGTGAAGCAGGATCTCAGGGTCCTGGGGGTGGGGAGAGGGGGCTGCCGTCCTGCTCGCAGCCTCTGCCGCCCTCTCCTGGGTAAGGTGACACATGGGCGCTTCCAGGTGGGTGGGCTGAGAGCCTGGGGGAGAGAACAGGGATGTCCACCTCTCTAAGTTTCCAGGTTCAAGAAACCCCAGAACGTTAGAGAAAGATGGGCTCCC... | pathogenic | 178,199 |
Assess the variant on chromosome 11, position 65537009, impacting SCYL1 (SCY1 like pseudokinase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Acute_infantile_liver_failure-cerebellar_ataxia-peripheral_sensory_motor_neuropathy_syndrome'] | GTGAGTCTAGGTGGAGTGCCATCAGGAGAGCAGAGCAGAGGAAATGGGAAACAGGAGTGCAGACAGACTTTGGAGGTTTTGCTGTAAAGGGGGACAGAAATGGGGTCCCTTTCTTCAACATGCTGGACAGGGCCAGGCCCAGGCTGGGAGGTGGCCTTGCAGGCTTTGATGGGTGTGCTCTGGGATGAGGGCTGCCAGGAGGCTGTTCCTGCACAAGGCCCTTTGCCCGCCACAGCCCACAGTTCCCACTCATTTCTGCCCCACAGTCCATGCTGCTCCTGGCCCCAAAGCTGAACGAGGCCAACCTCAATGTGGAGCTG... | GTGAGTCTAGGTGGAGTGCCATCAGGAGAGCAGAGCAGAGGAAATGGGAAACAGGAGTGCAGACAGACTTTGGAGGTTTTGCTGTAAAGGGGGACAGAAATGGGGTCCCTTTCTTCAACATGCTGGACAGGGCCAGGCCCAGGCTGGGAGGTGGCCTTGCAGGCTTTGATGGGTGTGCTCTGGGATGAGGGCTGCCAGGAGGCTGTTCCTGCACAAGGCCCTTTGCCCGCCACAGCCCACAGTTCCCACTCATTTCTGCCCCACAGTCCATGCTGCTCCTGGCCCCAAAGCTGAACGAGGCCAACCTCAATGTGGAGCTG... | pathogenic | 178,272 |
Gene LTBP3 (latent transforming growth factor beta binding protein 3) variant at chromosome position 65539552 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Brachyolmia-amelogenesis_imperfecta_syndrome', 'LTBP3-related_disorder'] | AGGACTGGGGCTGTCCTCAGAATGGGGCAGAGCTGGGGGCCCAATTTCCCCATCTGGCTGACAGCAGCAGTTTCTGGCCCTCAAGGCTGTTGGAAGGGGCATCTAGATCTCATTCCCCAGCCTTAAAGAGGGGTGAGGGCAGGCCAGGGTCAGCGTCCATTTAATAGATGGGAAACAGGGCCTGAGGAGCAAATGAGGAGGAAGGCAAAAGACAGTGGTGGGGCCCGTGGCTGGGATGATGCTGGGGCGGGCTCACTTGCCCTTTAGCATGGGGTGGGAGTCAGTGGTCCCTTCCCACACTGCAGCAGGAGGCCGAGTCT... | AGGACTGGGGCTGTCCTCAGAATGGGGCAGAGCTGGGGGCCCAATTTCCCCATCTGGCTGACAGCAGCAGTTTCTGGCCCTCAAGGCTGTTGGAAGGGGCATCTAGATCTCATTCCCCAGCCTTAAAGAGGGGTGAGGGCAGGCCAGGGTCAGCGTCCATTTAATAGATGGGAAACAGGGCCTGAGGAGCAAATGAGGAGGAAGGCAAAAGACAGTGGTGGGGCCCGTGGCTGGGATGATGCTGGGGCGGGCTCACTTGCCCTTTAGCATGGGGTGGGAGTCAGTGGTCCCTTCCCACACTGCAGCAGGAGGCCGAGTCT... | pathogenic | 178,297 |
Variant on chromosome 11, at position 65540055, affecting LTBP3: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Brachyolmia-amelogenesis_imperfecta_syndrome'] | CCGACTGGAGCAGCTGGGAAGCTGAGGGCTCCTGGGAACAGGGCTGGCAGGAGCCAAGCTCCCAGGAGCCACCTCCTGACGGTACACGGCTGGCCAGCGAGTATAACTGGGGTGGCCCAGAGTCCAGCGACAAGGGCGACCCCTTCGCTACCCTGTCTGCACGTCCCAGCACCCAGGTACCCAGCACAGGTCTGGCGAGAGGGTAGAGATGGTGGACCTCAGCCAGAAGTGGGCCCCACTGCAGCCCACACTTCTCTTTACAGCCGAGGCCAGACTCTTGGGGTGAGGACAACTGGGAGGGCCTCGAGACTGACAGTCGT... | CCGACTGGAGCAGCTGGGAAGCTGAGGGCTCCTGGGAACAGGGCTGGCAGGAGCCAAGCTCCCAGGAGCCACCTCCTGACGGTACACGGCTGGCCAGCGAGTATAACTGGGGTGGCCCAGAGTCCAGCGACAAGGGCGACCCCTTCGCTACCCTGTCTGCACGTCCCAGCACCCAGGTACCCAGCACAGGTCTGGCGAGAGGGTAGAGATGGTGGACCTCAGCCAGAAGTGGGCCCCACTGCAGCCCACACTTCTCTTTACAGCCGAGGCCAGACTCTTGGGGTGAGGACAACTGGGAGGGCCTCGAGACTGACAGTCGT... | pathogenic | 178,323 |
A mutation at chromosome position 65557827 on chromosome 11 in gene LTBP3 (latent transforming growth factor beta binding protein 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Brachyolmia-amelogenesis_imperfecta_syndrome', 'Heritable_Thoracic_Aortic_Disease'] | CCCACCCCATGGCTGCCCTCACTTCCCAGGGCAGGAGGGCAGGAGGGCGGGGGTGCTGCTCTCCTGGATGCCAGAAGGGCCTCACAGGGACAGCCCATATCCATGGCCCTCAGGGTCAGGCTAAGCACATCCCAGCCCAGCCCATCCTGCCTGGCCTCTTGGGGCCAGGCCTCACAGAGCAGAGGGGTGTGTCCTGGGCGGGGGGAGGTAGGATTCTCTTTTTCCTTTCTGCCAGTGAGTCACTCATAGCGGTGAGAGTGACCTCCCAATGACACCCGCCCACTGTGGCCTGGGCACCGAGCCTGGGGGATGTGGGCAGC... | CCCACCCCATGGCTGCCCTCACTTCCCAGGGCAGGAGGGCAGGAGGGCGGGGGTGCTGCTCTCCTGGATGCCAGAAGGGCCTCACAGGGACAGCCCATATCCATGGCCCTCAGGGTCAGGCTAAGCACATCCCAGCCCAGCCCATCCTGCCTGGCCTCTTGGGGCCAGGCCTCACAGAGCAGAGGGGTGTGTCCTGGGCGGGGGGAGGTAGGATTCTCTTTTTCCTTTCTGCCAGTGAGTCACTCATAGCGGTGAGAGTGACCTCCCAATGACACCCGCCCACTGTGGCCTGGGCACCGAGCCTGGGGGATGTGGGCAGC... | pathogenic | 178,458 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 65557854, gene LTBP3 (latent transforming growth factor beta binding protein 3): what disease(s) if pathogenic? | benign | AGGGCAGGAGGGCAGGAGGGCGGGGGTGCTGCTCTCCTGGATGCCAGAAGGGCCTCACAGGGACAGCCCATATCCATGGCCCTCAGGGTCAGGCTAAGCACATCCCAGCCCAGCCCATCCTGCCTGGCCTCTTGGGGCCAGGCCTCACAGAGCAGAGGGGTGTGTCCTGGGCGGGGGGAGGTAGGATTCTCTTTTTCCTTTCTGCCAGTGAGTCACTCATAGCGGTGAGAGTGACCTCCCAATGACACCCGCCCACTGTGGCCTGGGCACCGAGCCTGGGGGATGTGGGCAGCACAGATGGAGACAGCAGCCTGGGCAGG... | AGGGCAGGAGGGCAGGAGGGCGGGGGTGCTGCTCTCCTGGATGCCAGAAGGGCCTCACAGGGACAGCCCATATCCATGGCCCTCAGGGTCAGGCTAAGCACATCCCAGCCCAGCCCATCCTGCCTGGCCTCTTGGGGCCAGGCCTCACAGAGCAGAGGGGTGTGTCCTGGGCGGGGGGAGGTAGGATTCTCTTTTTCCTTTCTGCCAGTGAGTCACTCATAGCGGTGAGAGTGACCTCCCAATGACACCCGCCCACTGTGGCCTGGGCACCGAGCCTGGGGGATGTGGGCAGCACAGATGGAGACAGCAGCCTGGGCAGG... | benign | 178,460 |
Gene LTBP3 (latent transforming growth factor beta binding protein 3) variant at chromosome 11, position 65557854—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AGGGCAGGAGGGCAGGAGGGCGGGGGTGCTGCTCTCCTGGATGCCAGAAGGGCCTCACAGGGACAGCCCATATCCATGGCCCTCAGGGTCAGGCTAAGCACATCCCAGCCCAGCCCATCCTGCCTGGCCTCTTGGGGCCAGGCCTCACAGAGCAGAGGGGTGTGTCCTGGGCGGGGGGAGGTAGGATTCTCTTTTTCCTTTCTGCCAGTGAGTCACTCATAGCGGTGAGAGTGACCTCCCAATGACACCCGCCCACTGTGGCCTGGGCACCGAGCCTGGGGGATGTGGGCAGCACAGATGGAGACAGCAGCCTGGGCAGG... | AGGGCAGGAGGGCAGGAGGGCGGGGGTGCTGCTCTCCTGGATGCCAGAAGGGCCTCACAGGGACAGCCCATATCCATGGCCCTCAGGGTCAGGCTAAGCACATCCCAGCCCAGCCCATCCTGCCTGGCCTCTTGGGGCCAGGCCTCACAGAGCAGAGGGGTGTGTCCTGGGCGGGGGGAGGTAGGATTCTCTTTTTCCTTTCTGCCAGTGAGTCACTCATAGCGGTGAGAGTGACCTCCCAATGACACCCGCCCACTGTGGCCTGGGCACCGAGCCTGGGGGATGTGGGCAGCACAGATGGAGACAGCAGCCTGGGCAGG... | benign | 178,461 |
Is chromosome 11, position 65718834, gene KAT5 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CATCGTGGGCTACTTCTCCAAGGTCAGTGCCTGCCCAAGCTGTCCCTGTGCCCTGTCCTGAGCCAGATCCCTTCCCTGACACTCACCTGTCCCCCTTCTCCAGGAGAAAGAATCAACGGAAGACTACAATGTGGCCTGCATCCTAACCCTGCCTCCCTACCAGCGCCGGGGCTACGGCAAGCTGCTGATCGAGTTCAGTGAGTATGTGTGCTGCGGCCAGGGGGTAGTGGACCCACTATCGGTGCCTCACAGGCAGATGGGCCAGGCTACTGTGATTCTCAACCCTGGCTGTGCAGCCCAGCCTCTAGGGGAACCAGCCA... | CATCGTGGGCTACTTCTCCAAGGTCAGTGCCTGCCCAAGCTGTCCCTGTGCCCTGTCCTGAGCCAGATCCCTTCCCTGACACTCACCTGTCCCCCTTCTCCAGGAGAAAGAATCAACGGAAGACTACAATGTGGCCTGCATCCTAACCCTGCCTCCCTACCAGCGCCGGGGCTACGGCAAGCTGCTGATCGAGTTCAGTGAGTATGTGTGCTGCGGCCAGGGGGTAGTGGACCCACTATCGGTGCCTCACAGGCAGATGGGCCAGGCTACTGTGATTCTCAACCCTGGCTGTGCAGCCCAGCCTCTAGGGGAACCAGCCA... | benign | 178,497 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 65720319, gene RNASEH2C (ribonuclease H2 subunit C). What disease(s) is it linked to if pathogenic? | benign | GGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACTGCAGCTGCTCCTCTCAGTGCCCTCATGCCCTCCACTGTGCTCAGCGCACGGAAAGAGTGAATACTCAGTTCTTCCTGAGGGAACTGAGGCACAGAGAAGTGGAGGGCATAGAACTGCCAAGTGGCAGGGCCATGATAGGAACTAGGCAGCCTGCCTTGGCAACCTGTGTTTTTAAATGTTGCTTATGTTCATCTGTGACCTCTTACTCACCCTCTCCTGCTCCATTGCTTTAGG... | GGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACTGCAGCTGCTCCTCTCAGTGCCCTCATGCCCTCCACTGTGCTCAGCGCACGGAAAGAGTGAATACTCAGTTCTTCCTGAGGGAACTGAGGCACAGAGAAGTGGAGGGCATAGAACTGCCAAGTGGCAGGGCCATGATAGGAACTAGGCAGCCTGCCTTGGCAACCTGTGTTTTTAAATGTTGCTTATGTTCATCTGTGACCTCTTACTCACCCTCTCCTGCTCCATTGCTTTAGG... | benign | 178,502 |
A mutation at chromosome position 65868409 on chromosome 11 in gene EFEMP2 (EGF containing fibulin extracellular matrix protein 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cutis_laxa,_autosomal_recessive,_type_1B'] | TAGGAGTGCAGAGGGCTCATTGGGAAAATAAAAATAATAAAAATAAATAAAACTTCCTAAAAGAAAAGATTGAAAACCACTAACAGTCCAGTTGCCTCGTTTTATAGAAAAACAGGCCCAGGGAACTACTAGGGCTTATCCAAATGTACAGTTTGAGGCAGAGTTAGGAATGGAACCCAGGGCCTCCTGGCGCTGTCCAGAGTGGAGTTTCTTAGGACCCCTGCAAGCCAGCCAAGTCCAAATCTCTGGGCCGGGGCCTGGAGTCCGCCCTCCTCGTTACCTCCTCTCCTCTCGGGGTGACTGAAGCTCGTGGTGCAGAG... | TAGGAGTGCAGAGGGCTCATTGGGAAAATAAAAATAATAAAAATAAATAAAACTTCCTAAAAGAAAAGATTGAAAACCACTAACAGTCCAGTTGCCTCGTTTTATAGAAAAACAGGCCCAGGGAACTACTAGGGCTTATCCAAATGTACAGTTTGAGGCAGAGTTAGGAATGGAACCCAGGGCCTCCTGGCGCTGTCCAGAGTGGAGTTTCTTAGGACCCCTGCAAGCCAGCCAAGTCCAAATCTCTGGGCCGGGGCCTGGAGTCCGCCCTCCTCGTTACCTCCTCTCCTCTCGGGGTGACTGAAGCTCGTGGTGCAGAG... | pathogenic | 178,542 |
Is chromosome 11, position 66026403, gene CATSPER1 (cation channel sperm associated 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTTGGTAAAGACGGGATCTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGCGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGTCACCGCGCCTGGCCTGTTGTCATGTTTATTGAACTACTAGGAAGAAAGTTTGGTGGCGTATGAGCTAAAGGCCATGGTCCCTCCTTGCCCTCCAATAAGGCCCTCATTC... | GCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTTGGTAAAGACGGGATCTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGCGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGTCACCGCGCCTGGCCTGTTGTCATGTTTATTGAACTACTAGGAAGAAAGTTTGGTGGCGTATGAGCTAAAGGCCATGGTCCCTCCTTGCCCTCCAATAAGGCCCTCATTC... | benign | 178,648 |
Is the genetic change at chromosome 11, position 66070581, within gene PACS1 (phosphofurin acidic cluster sorting protein 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TCTGAGAGGGAGCTCGAAGAGAATTCAGATTCAGCGCCTTTCCCACAGACTTCTATGTCTATGTCAGGCTGCCCACCCTTGTTTTGGGGGTCCGGGGGTGGTTCAACCTGTCTTAACCTGTGTCTCTTTCTCCCTATACAGCAAAAAAAACGGAAAGCTCAGCCCCAGGACAGCCGTGGGGGCAGCAAGAAATATAAGGAGTTCAAGTTTTAGGTCCCCTCACACTAGCCCTTTTTTTGGCCCTACGTCTGGATGCCTGGGCTTCACACAAGAACCACCTCTCCCGCAGTTCCCAAGGACTTGTCATTTCATGTTCTTAT... | TCTGAGAGGGAGCTCGAAGAGAATTCAGATTCAGCGCCTTTCCCACAGACTTCTATGTCTATGTCAGGCTGCCCACCCTTGTTTTGGGGGTCCGGGGGTGGTTCAACCTGTCTTAACCTGTGTCTCTTTCTCCCTATACAGCAAAAAAAACGGAAAGCTCAGCCCCAGGACAGCCGTGGGGGCAGCAAGAAATATAAGGAGTTCAAGTTTTAGGTCCCCTCACACTAGCCCTTTTTTTGGCCCTACGTCTGGATGCCTGGGCTTCACACAAGAACCACCTCTCCCGCAGTTCCCAAGGACTTGTCATTTCATGTTCTTAT... | benign | 178,662 |
A genetic variant on chromosome 11, position 66070728, affects the gene PACS1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AAACGGAAAGCTCAGCCCCAGGACAGCCGTGGGGGCAGCAAGAAATATAAGGAGTTCAAGTTTTAGGTCCCCTCACACTAGCCCTTTTTTTGGCCCTACGTCTGGATGCCTGGGCTTCACACAAGAACCACCTCTCCCGCAGTTCCCAAGGACTTGTCATTTCATGTTCTTATTTTAGACCTGTTTTGTAAATAAAGCTGTTTCCCAAGGAAAGAGATGAATATTTAACACTCCTGAGCCTCCCTCATCTCCTTTTAGCCCCTTCTTGCAAAAGGACTAAAATAGTCTCTTTCTACAATCACTGGGCTGCCCCAGTAACC... | AAACGGAAAGCTCAGCCCCAGGACAGCCGTGGGGGCAGCAAGAAATATAAGGAGTTCAAGTTTTAGGTCCCCTCACACTAGCCCTTTTTTTGGCCCTACGTCTGGATGCCTGGGCTTCACACAAGAACCACCTCTCCCGCAGTTCCCAAGGACTTGTCATTTCATGTTCTTATTTTAGACCTGTTTTGTAAATAAAGCTGTTTCCCAAGGAAAGAGATGAATATTTAACACTCCTGAGCCTCCCTCATCTCCTTTTAGCCCCTTCTTGCAAAAGGACTAAAATAGTCTCTTTCTACAATCACTGGGCTGCCCCAGTAACC... | benign | 178,666 |
Determine if the mutation at chromosome 11, position 66239134 in gene PACS1 (phosphofurin acidic cluster sorting protein 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGGCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCCCTGTGCACGGCATGCCCGGCTAATTTTTGTATTTTTCTGCTGAGATGGCATTTCGCCATGGTGCCCAGGCTGGTCTCAAACTCTTGGACTCAGGAGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCCACCAGCTTGTATCTTTTTTTGTAATTTCCTTGAGGCTCCCTCGTAGC... | TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGGCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCCCTGTGCACGGCATGCCCGGCTAATTTTTGTATTTTTCTGCTGAGATGGCATTTCGCCATGGTGCCCAGGCTGGTCTCAAACTCTTGGACTCAGGAGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCCACCAGCTTGTATCTTTTTTTGTAATTTCCTTGAGGCTCCCTCGTAGC... | benign | 178,748 |
Variant at chromosome position 66510675, chromosome 11, gene BBS1 (Bardet-Biedl syndrome 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1', 'Retinal_dystrophy'] | ATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTA... | ATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTA... | pathogenic | 178,833 |
Determine whether the variant at chromosome 11, position 66511034, in gene BBS1 (Bardet-Biedl syndrome 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | TGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCC... | TGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCC... | pathogenic | 178,842 |
Variant on chromosome 11, at position 66511082, affecting BBS1 (Bardet-Biedl syndrome 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['BBS1-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | CTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGC... | CTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGC... | pathogenic | 178,843 |
Evaluate the clinical significance of the mutation at chromosome 11, position 66511236 in gene BBS1 (Bardet-Biedl syndrome 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTAC... | GCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTAC... | pathogenic | 178,846 |
A genetic variant on chromosome 11, position 66511240, affects the gene BBS1 (Bardet-Biedl syndrome 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['BBS1-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGA... | GCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGA... | pathogenic | 178,847 |
Classify the chromosome 11 variant at position 66514425 affecting gene BBS1 (Bardet-Biedl syndrome 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_1'] | TCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGC... | TCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGC... | pathogenic | 178,849 |
Mutation found at chromosome 11 position 66514468, gene BBS1 (Bardet-Biedl syndrome 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1', 'Retinal_dystrophy'] | CAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCC... | CAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCC... | pathogenic | 178,851 |
Determine whether the variant at chromosome 11, position 66514564, in gene BBS1 (Bardet-Biedl syndrome 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTG... | GTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTG... | pathogenic | 178,852 |
Clinical classification of chromosome 11, position 66514590, gene BBS1 (Bardet-Biedl syndrome 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | CAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTA... | CAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTA... | pathogenic | 178,853 |
Variant at chromosome position 66519617, chromosome 11, gene BBS1 (Bardet-Biedl syndrome 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCACGCCCATCTTATTTATTTATTTATTTTTTTAAGAGATGGGGTCTCACCATGTTGCCCAGACTGGTCTCAAACTCCTGATCTAAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGA... | GCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCACGCCCATCTTATTTATTTATTTATTTTTTTAAGAGATGGGGTCTCACCATGTTGCCCAGACTGGTCTCAAACTCCTGATCTAAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGA... | pathogenic | 178,869 |
Mutation at chromosome 11, position 66519631, within BBS1 (Bardet-Biedl syndrome 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | TCAGCCTCCCAAGTAGCTGAGACTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCACGCCCATCTTATTTATTTATTTATTTTTTTAAGAGATGGGGTCTCACCATGTTGCCCAGACTGGTCTCAAACTCCTGATCTAAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTATTTAG... | TCAGCCTCCCAAGTAGCTGAGACTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCACGCCCATCTTATTTATTTATTTATTTTTTTAAGAGATGGGGTCTCACCATGTTGCCCAGACTGGTCTCAAACTCCTGATCTAAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTATTTAG... | pathogenic | 178,871 |
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