question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
The mutation in gene PTEN (phosphatase and tensin homolog) at chromosome 10, position 87864537—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | CTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGGGGCGCTGCA... | CTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGGGGCGCTGCA... | pathogenic | 164,633 |
Determine if the mutation at chromosome 10, position 87864567 in gene PTEN (phosphatase and tensin homolog) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGGGGCGCTGCAAGGGAGCCGGATGAGGTGATACACGCTGGC... | GCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGGGGCGCTGCAAGGGAGCCGGATGAGGTGATACACGCTGGC... | benign | 164,649 |
Does the variant impacting PTEN (phosphatase and tensin homolog) on chromosome 10, position 87864578, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGGGGCGCTGCAAGGGAGCCGGATGAGGTGATACACGCTGGCGACACAATAGC... | TGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGGGGCGCTGCAAGGGAGCCGGATGAGGTGATACACGCTGGCGACACAATAGC... | benign | 164,650 |
Does the genetic variant at chromosome 10, position 87894012, impacting gene PTEN (phosphatase and tensin homolog), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AAAAAAAAAAAGAAAATAGTTTGAGGATATCAATAATGATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTT... | AAAAAAAAAAAGAAAATAGTTTGAGGATATCAATAATGATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTT... | benign | 164,654 |
Is chromosome 10, position 87894022, gene PTEN (phosphatase and tensin homolog) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | AGAAAATAGTTTGAGGATATCAATAATGATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGC... | AGAAAATAGTTTGAGGATATCAATAATGATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGC... | pathogenic | 164,656 |
The mutation in gene PTEN (phosphatase and tensin homolog) at chromosome 10, position 87894034—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Macrocephaly-autism_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | GAGGATATCAATAATGATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTT... | GAGGATATCAATAATGATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTT... | pathogenic | 164,661 |
The mutation impacting PTEN (phosphatase and tensin homolog) on chromosome 10 at position 87894038: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurodevelopmental_delay', 'PTEN_hamartoma_tumor_syndrome'] | ATATCAATAATGATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTC... | ATATCAATAATGATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTC... | pathogenic | 164,664 |
The mutation in gene PTEN (phosphatase and tensin homolog) at chromosome 10, position 87894040—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | ATCAATAATGATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCC... | ATCAATAATGATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCC... | pathogenic | 164,665 |
Variant on chromosome 10, at position 87894050, affecting PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glioma_susceptibility_2', 'Hereditary_cancer-predisposing_syndrome'] | ATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTG... | ATATTACTAGAATCAGTAAAACTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTG... | pathogenic | 164,669 |
Chromosome 10, position 87894071, gene PTEN (phosphatase and tensin homolog): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTT... | CTACCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTT... | pathogenic | 164,678 |
Considering the genetic mutation at chromosome 10, position 87894074, impacting PTEN (phosphatase and tensin homolog): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | CCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCT... | CCAAAAGAAGTTTAAAGTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCT... | pathogenic | 164,680 |
A genetic variant at chromosome 10, position 87894090, affecting gene PTEN (phosphatase and tensin homolog)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | GTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATGC... | GTTTCTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATGC... | pathogenic | 164,692 |
Variant on chromosome 10, at position 87894094, affecting PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | CTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATGCATGC... | CTTCCTAGTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATGCATGC... | pathogenic | 164,694 |
Variant in PTEN (phosphatase and tensin homolog), chromosome 10, position 87894101—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | GTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATGCATGCATATGTT... | GTGTTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATGCATGCATATGTT... | pathogenic | 164,697 |
Variant on chromosome 10, at position 87894104, affecting PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'PTEN_hamartoma_tumor_syndrome'] | TTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATGCATGCATATGTTTAT... | TTTTTTTGTTCTTAGAATACTTCCTACCAAGAAGTGCAGTAAAAGTGCAGTGTCCAAATAGCCCTTGTAACAAAACCTTTCTCTTTCTCCTGGGTGCCAATTTGACATTTAATCAGTTTTGTTTCTAGCAGTGTTCAATTTATTAGATTATAAGTCTTTTTTTTCTTTATATTATTCTAAGATCAAAAATATATAAAGATATACACAGGAGTCCTGCTGCTACCTGTTCTTGCTATGCTTTTCCCCTTTTCTTCCCTTTCTCTGTGAAGCAGCCATTTTTATTAGTTTCTTGTTTATCACTCATGCATGCATATGTTTAT... | pathogenic | 164,699 |
Is the genetic change at chromosome 10, position 87925488, within gene PTEN (phosphatase and tensin homolog) benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGTTCCATTTCCTTCTGTATCAGAGAAGAGCCACCATGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAG... | AGTTCCATTTCCTTCTGTATCAGAGAAGAGCCACCATGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAG... | benign | 164,705 |
The mutation impacting PTEN (phosphatase and tensin homolog) on chromosome 10 at position 87925495: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TTTCCTTCTGTATCAGAGAAGAGCCACCATGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTAT... | TTTCCTTCTGTATCAGAGAAGAGCCACCATGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTAT... | pathogenic | 164,707 |
Clinical classification of chromosome 10, position 87925496, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease(s) if pathogenic? | benign | TTCCTTCTGTATCAGAGAAGAGCCACCATGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATG... | TTCCTTCTGTATCAGAGAAGAGCCACCATGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATG... | benign | 164,709 |
Does the variant impacting PTEN (phosphatase and tensin homolog) on chromosome 10, position 87925511, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | AGAAGAGCCACCATGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGAT... | AGAAGAGCCACCATGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGAT... | pathogenic | 164,712 |
Is the genetic change at chromosome 10, position 87925513, within gene PTEN (phosphatase and tensin homolog) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cowden_syndrome_1'] | AAGAGCCACCATGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAA... | AAGAGCCACCATGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAA... | pathogenic | 164,715 |
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 87925513, gene PTEN (phosphatase and tensin homolog): what disease(s) if pathogenic? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | AAGAGCCACCATGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAA... | AAGAGCCACCATGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAA... | pathogenic | 164,716 |
Evaluate the clinical significance of the mutation at chromosome 10, position 87925524 in gene PTEN (phosphatase and tensin homolog): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndromes'] | TGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCAT... | TGCTGAAAGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCAT... | pathogenic | 164,720 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 87925531, gene PTEN (phosphatase and tensin homolog). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | AGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAG... | AGCAAGGGGCACTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAG... | pathogenic | 164,726 |
Clinically, how would you classify the variant at chromosome 10, position 87925542, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTAT... | CTATGTTTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTAT... | pathogenic | 164,730 |
Evaluate this variant at chromosome 10, position 87925548, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | TTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTATATTGTG... | TTCTTTGTTCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTATATTGTG... | pathogenic | 164,736 |
The mutation impacting PTEN (phosphatase and tensin homolog) on chromosome 10 at position 87925556: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTATATTGTGACTTTTTT... | TCTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTATATTGTGACTTTTTT... | pathogenic | 164,745 |
Is the chromosome 10, position 87925557 variant in PTEN (phosphatase and tensin homolog) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cowden_syndrome_1', 'Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm', 'PTEN_hamartoma_tumor_syndrome'] | CTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTATATTGTGACTTTTTTC... | CTTAAGGATGGTAGCCTATCTGCAACAACTGTAGTGTGATATAAAAATATATAATTTATGTTGCTGACAGTTACAAATACTGCTTGCAGTACTTTGTAACATAATTTTTCAGATTCAAGTTCATATACTCTTTTTTTCCACATCACCACACACATATTTTCAGACTTCCTCCTCATCCTTCTTCTTGCCAGTAGTTGTATTATAATTCCTGCCAGTAGTTACATTATAATTTTGGTTATATCAATATTGAGTTTTTATGGGATTATAACTAGATAAATGCCATTCATAGTTAAGTGATAGAGTATATTGTGACTTTTTTC... | pathogenic | 164,747 |
Gene mutation in PTEN (phosphatase and tensin homolog) at chromosome 10, position 87931033—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AACAGTAGTAGAAAAAGTTTGACTTTTGTAATCAGAGATACTGAGCTTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACC... | AACAGTAGTAGAAAAAGTTTGACTTTTGTAATCAGAGATACTGAGCTTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACC... | benign | 164,759 |
Does the variant impacting PTEN (phosphatase and tensin homolog) on chromosome 10, position 87931039, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AGTAGAAAAAGTTTGACTTTTGTAATCAGAGATACTGAGCTTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGT... | AGTAGAAAAAGTTTGACTTTTGTAATCAGAGATACTGAGCTTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGT... | benign | 164,763 |
Chromosome 10, position 87931039, gene PTEN (phosphatase and tensin homolog): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | AGTAGAAAAAGTTTGACTTTTGTAATCAGAGATACTGAGCTTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGT... | AGTAGAAAAAGTTTGACTTTTGTAATCAGAGATACTGAGCTTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGT... | pathogenic | 164,764 |
Determine whether the variant at chromosome 10, position 87931041, in gene PTEN (phosphatase and tensin homolog) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | TAGAAAAAGTTTGACTTTTGTAATCAGAGATACTGAGCTTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTC... | TAGAAAAAGTTTGACTTTTGTAATCAGAGATACTGAGCTTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTC... | pathogenic | 164,766 |
Does the variant on chromosome 10 at location 87931060 affecting gene PTEN (phosphatase and tensin homolog) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN-related_disorder'] | GTAATCAGAGATACTGAGCTTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAG... | GTAATCAGAGATACTGAGCTTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAG... | pathogenic | 164,774 |
For chromosome 10, position 87931061, gene PTEN (phosphatase and tensin homolog): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | TAATCAGAGATACTGAGCTTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAGG... | TAATCAGAGATACTGAGCTTGAGTTCTGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAGG... | pathogenic | 164,775 |
Does the chromosome 10 mutation at position 87931087 within gene PTEN (phosphatase and tensin homolog) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAGGGGAAGTTTAGAGAACTGAAGCTGCAC... | TGGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAGGGGAAGTTTAGAGAACTGAAGCTGCAC... | benign | 164,783 |
The mutation in gene PTEN (phosphatase and tensin homolog) at chromosome 10, position 87931088—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Macrocephaly-autism_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | GGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAGGGGAAGTTTAGAGAACTGAAGCTGCACA... | GGCTCTTTCATTTGTATACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAGGGGAAGTTTAGAGAACTGAAGCTGCACA... | pathogenic | 164,784 |
Variant on chromosome 10, at position 87931105, affecting PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAGGGGAAGTTTAGAGAACTGAAGCTGCACAAAACTAATGTTTATTTT... | ACTGTTATTTGGGGCAAGTTTTTTAATGCTCTTAAGTCTTAGCTTTCTCATATATAAAATGGAGATAATAACAGTTATCACGTGATTGTGAGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAGGGGAAGTTTAGAGAACTGAAGCTGCACAAAACTAATGTTTATTTT... | benign | 164,792 |
Gene mutation in PTEN (phosphatase and tensin homolog) at chromosome 10, position 87931195—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAGGGGAAGTTTAGAGAACTGAAGCTGCACAAAACTAATGTTTATTTTCTGTTGTGTTGTCCTGAGACCAGCTTCTTAGATTGTGTTTCCTAGTCCTACATCTCTGATTCCTTATAAAATATTCCATTATGAATTCTT... | AGGATGAAACAAAAAAAAGTGGAAACTCTTTGTAAGGTGTGTTCATCTGGTTGACACTTAGTAGTCATTACTTCCACTTTCCGTCCATATAGTCCTCTTAACAGTAATATTTGAGAGGCATTTTTATTAAAGCAGTCTTAAGGAGTGTTCGTCAAACCACATGTTCTGGGATCCTGAGAAAGTAGGGGAAGTTTAGAGAACTGAAGCTGCACAAAACTAATGTTTATTTTCTGTTGTGTTGTCCTGAGACCAGCTTCTTAGATTGTGTTTCCTAGTCCTACATCTCTGATTCCTTATAAAATATTCCATTATGAATTCTT... | benign | 164,793 |
Is the genetic mutation found on chromosome 10 at position 87932974, within the gene PTEN (phosphatase and tensin homolog), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AAACACAGCATAATATGTGTCACATTATAAAGATTCAGGCAATGTTTGTTAGTATTAGTACTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTT... | AAACACAGCATAATATGTGTCACATTATAAAGATTCAGGCAATGTTTGTTAGTATTAGTACTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTT... | benign | 164,795 |
Does the chromosome 10 mutation at position 87933000 within gene PTEN (phosphatase and tensin homolog) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ATAAAGATTCAGGCAATGTTTGTTAGTATTAGTACTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTA... | ATAAAGATTCAGGCAATGTTTGTTAGTATTAGTACTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTA... | benign | 164,798 |
The genetic variant at chromosome 10, position 87933018, affecting gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Macrocephaly-autism_syndrome'] | TTTGTTAGTATTAGTACTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGA... | TTTGTTAGTATTAGTACTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGA... | pathogenic | 164,801 |
Regarding the variant found on chromosome 10 at position 87933019 in gene PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | TTGTTAGTATTAGTACTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGAC... | TTGTTAGTATTAGTACTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGAC... | pathogenic | 164,802 |
Clinical classification of chromosome 10, position 87933025, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | GTATTAGTACTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGT... | GTATTAGTACTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGT... | pathogenic | 164,806 |
Variant at chromosome position 87933025, chromosome 10, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN-related_disorder', 'PTEN_hamartoma_tumor_syndrome', 'Prostate_cancer,_hereditary,_1'] | GTATTAGTACTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGT... | GTATTAGTACTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGT... | pathogenic | 164,807 |
The genetic variant at chromosome 10, position 87933034, affecting gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | CTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAG... | CTTTTTTTTCTTCCTAAGTGCAAAAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAG... | pathogenic | 164,813 |
Variant on chromosome 10, at position 87933057, affecting PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cowden_syndrome_1'] | AAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTA... | AAGATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTA... | pathogenic | 164,826 |
A genetic variant on chromosome 10, position 87933059, affects the gene PTEN (phosphatase and tensin homolog). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | GATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGA... | GATAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGA... | pathogenic | 164,827 |
Gene PTEN (phosphatase and tensin homolog) variant at chromosome 10, position 87933061—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | TAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACT... | TAACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACT... | pathogenic | 164,830 |
Classify the chromosome 10 variant at position 87933062 affecting gene PTEN (phosphatase and tensin homolog) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'Prostate_cancer,_hereditary,_1'] | AACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTA... | AACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTA... | pathogenic | 164,831 |
Does the variant on chromosome 10 at location 87933065 affecting gene PTEN (phosphatase and tensin homolog) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Seizure'] | TTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAA... | TTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAA... | pathogenic | 164,832 |
Assess the variant on chromosome 10, position 87933068, impacting PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | ATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATA... | ATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATA... | pathogenic | 164,834 |
Is the variant located on chromosome 10 at position 87933071, gene PTEN (phosphatase and tensin homolog), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cowden_syndrome_1'] | TCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTA... | TCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTA... | pathogenic | 164,836 |
Determine if the mutation at chromosome 10, position 87933073 in gene PTEN (phosphatase and tensin homolog) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | ACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATA... | ACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATA... | pathogenic | 164,838 |
Mutation found at chromosome 10 position 87933104, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | AGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGT... | AGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGT... | pathogenic | 164,852 |
Variant in gene PTEN (phosphatase and tensin homolog), located at chromosome 10 position 87933128: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | AATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAG... | AATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAG... | pathogenic | 164,864 |
Gene PTEN (phosphatase and tensin homolog) variant at chromosome position 87933142 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | GTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAAC... | GTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAAC... | pathogenic | 164,879 |
Considering the variant on chromosome 10, location 87933147, involving gene PTEN (phosphatase and tensin homolog), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | AATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTT... | AATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTT... | pathogenic | 164,888 |
Does the variant impacting PTEN (phosphatase and tensin homolog) on chromosome 10, position 87933163, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'Macrocephaly-autism_syndrome'] | TTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGA... | TTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGA... | pathogenic | 164,902 |
Evaluate if the mutation on chromosome 10 at position 87933172 in PTEN (phosphatase and tensin homolog) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACA... | TTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACA... | pathogenic | 164,907 |
The mutation in gene PTEN (phosphatase and tensin homolog) at chromosome 10, position 87933178—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAG... | CCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAG... | pathogenic | 164,910 |
A genetic variant at chromosome 10, position 87933182, affecting gene PTEN (phosphatase and tensin homolog)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cowden_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAG... | TAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAG... | pathogenic | 164,915 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 87933188, gene PTEN (phosphatase and tensin homolog). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | GTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGG... | GTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGG... | pathogenic | 164,919 |
Is the genetic mutation found on chromosome 10 at position 87933191, within the gene PTEN (phosphatase and tensin homolog), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | TCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATA... | TCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATA... | pathogenic | 164,922 |
Is chromosome 10, position 87933199, gene PTEN (phosphatase and tensin homolog) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | TCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAAT... | TCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAAT... | pathogenic | 164,925 |
Determine if the mutation at chromosome 10, position 87933200 in gene PTEN (phosphatase and tensin homolog) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATG... | CATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATG... | pathogenic | 164,927 |
Gene mutation in PTEN (phosphatase and tensin homolog) at chromosome 10, position 87933224—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATG... | TTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATG... | pathogenic | 164,941 |
Considering the genetic mutation at chromosome 10, position 87933224, impacting PTEN (phosphatase and tensin homolog): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATG... | TTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATG... | pathogenic | 164,942 |
Classify the chromosome 10 variant at position 87933243 affecting gene PTEN (phosphatase and tensin homolog) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | TTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTA... | TTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTA... | pathogenic | 164,949 |
Chromosome 10, position 87933244, gene PTEN (phosphatase and tensin homolog): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAA... | TTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAA... | pathogenic | 164,950 |
Variant chromosome 10, position 87933245, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease(s)? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | TAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAAA... | TAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAAA... | pathogenic | 164,951 |
Chromosome 10, position 87933245, gene PTEN (phosphatase and tensin homolog): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome', 'PTEN_hamartoma_tumor_syndromes'] | TAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAAA... | TAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAAA... | pathogenic | 164,953 |
Gene PTEN (phosphatase and tensin homolog) variant at chromosome 10, position 87933245—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cowden_syndrome_1', 'Glioma_susceptibility_2', 'PTEN_hamartoma_tumor_syndrome'] | TAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAAA... | TAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAAA... | pathogenic | 164,954 |
Clinical significance of chromosome 10, position 87933250, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'Macrocephaly-autism_syndrome', 'Malignant_tumor_of_breast', 'PTEN_hamartoma_tumor_syndrome'] | ATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAAATGAGT... | ATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAAATGAGT... | pathogenic | 164,957 |
The genetic variant at chromosome 10, position 87933252, affecting gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | TATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAAATGAGTTT... | TATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAAATGAGTTT... | pathogenic | 164,961 |
Variant chromosome 10, position 87933259, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease(s)? | benign | AAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAAATGAGTTTCTACTTC... | AAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGATGAGAGGAGGGAACTGCTTTAAATGAGTTTCTACTTC... | benign | 164,964 |
Does the genetic variant at chromosome 10, position 87952098, impacting gene PTEN (phosphatase and tensin homolog), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCAT... | AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCAT... | benign | 164,969 |
A genetic variant at chromosome 10, position 87952116, affecting gene PTEN (phosphatase and tensin homolog)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGC... | TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGC... | pathogenic | 164,977 |
A mutation at chromosome position 87952125 on chromosome 10 in gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTA... | CGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTA... | pathogenic | 164,986 |
Located at chromosome 10 position 87952129, the variant affecting gene PTEN (phosphatase and tensin homolog)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome', 'Proteus-like_syndrome'] | GAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTG... | GAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTG... | pathogenic | 164,988 |
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 87952131, gene PTEN (phosphatase and tensin homolog): what disease(s) if pathogenic? | pathogenic; ['Cowden_syndrome', 'Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | AACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCA... | AACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCA... | pathogenic | 164,989 |
Is the genetic variant on chromosome 10, position 87952136, gene PTEN (phosphatase and tensin homolog), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGG... | CGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGG... | pathogenic | 164,995 |
Clinically, how would you classify the variant at chromosome 10, position 87952144, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGAT... | CTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGAT... | pathogenic | 165,003 |
Chromosome 10, position 87952159, gene PTEN (phosphatase and tensin homolog): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | TTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCT... | TTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCT... | pathogenic | 165,012 |
Clinical classification of chromosome 10, position 87952170, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bannayan-Riley-Ruvalcaba_syndrome', 'Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGG... | TGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGG... | pathogenic | 165,020 |
Clinical classification of chromosome 10, position 87952170, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Neurodevelopmental_abnormality', 'PTEN_hamartoma_tumor_syndrome'] | TGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGG... | TGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGG... | pathogenic | 165,021 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 87952172, gene PTEN (phosphatase and tensin homolog). What disease(s) is it linked to if pathogenic? | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | GTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGT... | GTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGT... | pathogenic | 165,022 |
Does the variant impacting PTEN (phosphatase and tensin homolog) on chromosome 10, position 87952195, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | CTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCC... | CTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCC... | pathogenic | 165,025 |
Is chromosome 10, position 87952207, gene PTEN (phosphatase and tensin homolog) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACA... | CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACA... | pathogenic | 165,031 |
Regarding the variant at chromosome 10 and position 87952210, affecting gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | AGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCA... | AGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCA... | pathogenic | 165,033 |
Variant in PTEN (phosphatase and tensin homolog), chromosome 10, position 87952210—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | AGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCA... | AGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCA... | pathogenic | 165,034 |
Located at chromosome 10 position 87952213, the variant affecting gene PTEN (phosphatase and tensin homolog)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | CAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAG... | CAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAG... | pathogenic | 165,036 |
The mutation in gene PTEN (phosphatase and tensin homolog) at chromosome 10, position 87952230—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | CCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTC... | CCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTC... | pathogenic | 165,037 |
Regarding the variant found on chromosome 10 at position 87952240 in gene PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | AGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTCAGCATTCAAA... | AGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTCAGCATTCAAA... | pathogenic | 165,041 |
Variant at chromosome 10, position 87952246, gene PTEN (phosphatase and tensin homolog): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | TGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTCAGCATTCAAATACAAG... | TGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTCAGCATTCAAATACAAG... | pathogenic | 165,043 |
Variant at chromosome 10, position 87952253, gene PTEN (phosphatase and tensin homolog): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | AGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTCAGCATTCAAATACAAGTCTTTTA... | AGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTCAGCATTCAAATACAAGTCTTTTA... | pathogenic | 165,046 |
Is the genetic mutation found on chromosome 10 at position 87952256, within the gene PTEN (phosphatase and tensin homolog), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTCAGCATTCAAATACAAGTCTTTTATTT... | CGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTCAGCATTCAAATACAAGTCTTTTATTT... | pathogenic | 165,047 |
The genetic variant at chromosome 10, position 87957818, affecting gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | GATATCCAAACTATATCACTAGGTCTGGATCTTGTTATTTATTTTTTGGAACATAGTCATATATATCCAAGGATATATATTGTAGAAGTCCACAGAACCATACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTAT... | GATATCCAAACTATATCACTAGGTCTGGATCTTGTTATTTATTTTTTGGAACATAGTCATATATATCCAAGGATATATATTGTAGAAGTCCACAGAACCATACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTAT... | pathogenic | 165,061 |
The mutation in gene PTEN (phosphatase and tensin homolog) at chromosome 10, position 87957858—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | ATTTTTTGGAACATAGTCATATATATCCAAGGATATATATTGTAGAAGTCCACAGAACCATACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACA... | ATTTTTTGGAACATAGTCATATATATCCAAGGATATATATTGTAGAAGTCCACAGAACCATACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACA... | pathogenic | 165,074 |
Assess the variant on chromosome 10, position 87957889, impacting PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | GATATATATTGTAGAAGTCCACAGAACCATACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATT... | GATATATATTGTAGAAGTCCACAGAACCATACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATT... | pathogenic | 165,083 |
Mutation at chromosome 10, position 87957890, within PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | ATATATATTGTAGAAGTCCACAGAACCATACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTT... | ATATATATTGTAGAAGTCCACAGAACCATACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTT... | pathogenic | 165,084 |
Chromosome 10, position 87957908, gene PTEN (phosphatase and tensin homolog): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CACAGAACCATACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATC... | CACAGAACCATACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATC... | pathogenic | 165,091 |
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