question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Variant chromosome 16, position 2084567, gene TSC2 (TSC complex subunit 2): benign or pathogenic? Disease(s)? | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | AGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAG... | AGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAG... | pathogenic | 243,854 |
Assess the variant on chromosome 16, position 2084633, impacting TSC2 (TSC complex subunit 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Tuberous_sclerosis_2'] | CACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAA... | CACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAA... | pathogenic | 243,877 |
The genetic variant at chromosome 16, position 2084639, affecting gene TSC2 (TSC complex subunit 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACA... | CATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACA... | pathogenic | 243,879 |
Mutation found at chromosome 16 position 2084661, gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCA... | CCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCA... | pathogenic | 243,886 |
Chromosome 16, position 2084692, gene TSC2 (TSC complex subunit 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lymphangiomyomatosis', 'Tuberous_sclerosis_2'] | ACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCT... | ACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCT... | pathogenic | 243,896 |
Does the genetic variant at chromosome 16, position 2084731, impacting gene TSC2 (TSC complex subunit 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACC... | CCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACC... | benign | 243,906 |
Variant chromosome 16, position 2084939, gene TSC2 (TSC complex subunit 2): benign or pathogenic? Disease(s)? | benign | CCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTC... | CCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTC... | benign | 243,911 |
Mutation at chromosome 16, position 2084993, within TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_syndrome'] | GCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCT... | GCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCT... | pathogenic | 243,932 |
Evaluate the clinical significance of the mutation at chromosome 16, position 2084997 in gene TSC2 (TSC complex subunit 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | TGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTC... | TGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTC... | pathogenic | 243,934 |
Is the genetic mutation found on chromosome 16 at position 2085230, within the gene TSC2 (TSC complex subunit 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Tuberous_sclerosis_2'] | GAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCT... | GAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCT... | pathogenic | 243,951 |
Is chromosome 16, position 2085312, gene TSC2 (TSC complex subunit 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'TSC2-related_disorder', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | TGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGG... | TGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGG... | pathogenic | 243,976 |
Is the chromosome 16, position 2086172 variant in TSC2 (TSC complex subunit 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTG... | CCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTG... | benign | 243,987 |
Is the chromosome 16, position 2086173 variant in TSC2 (TSC complex subunit 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGG... | CCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGG... | benign | 243,988 |
Variant on chromosome 16, at position 2086350, affecting TSC2 (TSC complex subunit 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | GCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGG... | GCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGG... | pathogenic | 244,045 |
Gene TSC2 (TSC complex subunit 2) variant at chromosome 16, position 2086368—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | GGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCA... | GGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCA... | pathogenic | 244,051 |
A genetic variant at chromosome 16, position 2086790, affecting gene TSC2 (TSC complex subunit 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | TCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAG... | TCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAG... | pathogenic | 244,082 |
Clinical significance of chromosome 16, position 2086814, gene TSC2 (TSC complex subunit 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | CTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGG... | CTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGG... | pathogenic | 244,095 |
A genetic variant at chromosome 16, position 2087923, affecting gene TSC2 (TSC complex subunit 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAG... | GAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAG... | benign | 244,141 |
Located at chromosome 16 position 2087923, the variant affecting gene TSC2 (TSC complex subunit 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAG... | GAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAG... | benign | 244,142 |
Classify the chromosome 16 variant at position 2088029 affecting gene TSC2 (TSC complex subunit 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGAC... | TTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGAC... | benign | 244,155 |
Gene TSC2 (TSC complex subunit 2) variant at chromosome position 2088138 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | TCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTG... | TCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTG... | pathogenic | 244,193 |
Does the variant on chromosome 16 at location 2088145 affecting gene TSC2 (TSC complex subunit 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGG... | GGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGG... | benign | 244,197 |
Assess the variant on chromosome 16, position 2088277, impacting TSC2 (TSC complex subunit 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Tuberous_sclerosis_2'] | GGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGG... | GGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGG... | pathogenic | 244,228 |
Determine if the mutation at chromosome 16, position 2088278 in gene TSC2 (TSC complex subunit 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Tuberous_sclerosis_2'] | GCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGC... | GCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGC... | pathogenic | 244,229 |
Does the variant on chromosome 16 at location 2088292 affecting gene TSC2 (TSC complex subunit 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | ACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGT... | ACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGT... | pathogenic | 244,236 |
Benign or pathogenic: chromosome 16, position 2088304, gene TSC2 (TSC complex subunit 2) variant? Disease(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_2'] | ACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTG... | ACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTG... | pathogenic | 244,242 |
Clinically, how would you classify the variant at chromosome 16, position 2088311, gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | TGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGG... | TGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGG... | pathogenic | 244,245 |
The genetic variant at chromosome 16, position 2088323, affecting gene TSC2 (TSC complex subunit 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | TCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGG... | TCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGG... | pathogenic | 244,252 |
Variant at chromosome position 2088451, chromosome 16, gene TSC2 (TSC complex subunit 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Tuberous_sclerosis_2'] | CCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCT... | CCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCT... | pathogenic | 244,264 |
Clinical significance of chromosome 16, position 2088471, gene TSC2 (TSC complex subunit 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Tuberous_sclerosis_2'] | GGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCAC... | GGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCAC... | pathogenic | 244,271 |
Evaluate the clinical significance of the mutation at chromosome 16, position 2088603 in gene TSC2 (TSC complex subunit 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Abnormal_cerebral_morphology', 'Tuberous_sclerosis_2', 'Tuberous_sclerosis_syndrome'] | GCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTG... | GCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTG... | pathogenic | 244,325 |
Is the genetic mutation found on chromosome 16 at position 2088661, within the gene TSC2 (TSC complex subunit 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGG... | GAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGG... | benign | 244,331 |
Clinical significance of chromosome 16, position 2089956, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease'] | GAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGA... | GAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGA... | pathogenic | 244,348 |
Variant on chromosome 16, at position 2090003, affecting PKD1 (polycystin 1, transient receptor potential channel interacting): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | GGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTAC... | GGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTAC... | pathogenic | 244,353 |
For chromosome 16, position 2090007, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCT... | CCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCT... | pathogenic | 244,354 |
Considering the variant on chromosome 16, location 2090261, involving gene PKD1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCC... | GCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCC... | benign | 244,359 |
Located at chromosome 16 position 2090330, the variant affecting gene PKD1 (polycystin 1, transient receptor potential channel interacting)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | AGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAG... | AGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAG... | pathogenic | 244,364 |
Determine whether the variant at chromosome 16, position 2090337, in gene PKD1 (polycystin 1, transient receptor potential channel interacting) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | TGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGT... | TGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGT... | pathogenic | 244,365 |
The mutation in gene PKD1 (polycystin 1, transient receptor potential channel interacting) at chromosome 16, position 2090393—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAA... | CTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAA... | pathogenic | 244,368 |
Located at chromosome 16 position 2090461, the variant affecting gene PKD1 (polycystin 1, transient receptor potential channel interacting)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTG... | CAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTG... | pathogenic | 244,372 |
Does the chromosome 16 mutation at position 2090489 within gene PKD1 (polycystin 1, transient receptor potential channel interacting) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | TTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGG... | TTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGG... | pathogenic | 244,373 |
Classify the chromosome 16 variant at position 2090512 affecting gene PKD1 (polycystin 1, transient receptor potential channel interacting) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | TACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCG... | TACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCG... | pathogenic | 244,374 |
Evaluate if the mutation on chromosome 16 at position 2090651 in PKD1 (polycystin 1, transient receptor potential channel interacting) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAG... | TTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAG... | benign | 244,379 |
Evaluate if the mutation on chromosome 16 at position 2090750 in PKD1 (polycystin 1, transient receptor potential channel interacting) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCG... | CACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCG... | pathogenic | 244,382 |
Determine if the mutation at chromosome 16, position 2090902 in gene PKD1 (polycystin 1, transient receptor potential channel interacting) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | ATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTA... | ATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTA... | pathogenic | 244,394 |
Mutation at chromosome 16, position 2090906, within PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | AGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAA... | AGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAA... | pathogenic | 244,395 |
Determine if the mutation at chromosome 16, position 2091439 in gene PKD1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | AGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCC... | AGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCC... | pathogenic | 244,412 |
Located at chromosome 16 position 2091441, the variant affecting gene PKD1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCC... | CCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCC... | pathogenic | 244,413 |
The mutation in gene PKD1 at chromosome 16, position 2091474—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGG... | GGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGG... | pathogenic | 244,417 |
Variant chromosome 16, position 2091570, gene PKD1: benign or pathogenic? Disease(s)? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGC... | GAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGC... | pathogenic | 244,420 |
Variant in PKD1, chromosome 16, position 2091580—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGG... | GGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGG... | pathogenic | 244,422 |
A genetic variant on chromosome 16, position 2091775, affects the gene PKD1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGC... | CTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGC... | benign | 244,426 |
Benign or pathogenic: chromosome 16, position 2091863, gene PKD1 variant? Disease(s) if pathogenic? | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | GCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGA... | GCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGA... | pathogenic | 244,436 |
Evaluate this variant at chromosome 16, position 2091864, gene PKD1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | CAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAG... | CAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAG... | pathogenic | 244,437 |
Considering the genetic mutation at chromosome 16, position 2092078, impacting PKD1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | CCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGT... | CCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGT... | pathogenic | 244,443 |
Clinical classification of chromosome 16, position 2092110, gene PKD1: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGC... | GGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGC... | pathogenic | 244,446 |
Evaluate the clinical significance of the mutation at chromosome 16, position 2092112 in gene PKD1: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGCTC... | CTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGCTC... | pathogenic | 244,448 |
Considering the variant on chromosome 16, location 2092113, involving gene PKD1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | TGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGCTCT... | TGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGCTCT... | pathogenic | 244,449 |
Variant in gene PKD1, located at chromosome 16 position 2092113: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic | TGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGCTCT... | TGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGCTCT... | pathogenic | 244,450 |
The mutation impacting PKD1 on chromosome 16 at position 2092182: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | AGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGCTCTCCACGCAAGGCGTGGTAGCGCCAGCGGAGAATAACAGCCCCCAGCCGTAGGGCGCCCCACAGCCGCAGT... | AGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGCTCTCCACGCAAGGCGTGGTAGCGCCAGCGGAGAATAACAGCCCCCAGCCGTAGGGCGCCCCACAGCCGCAGT... | pathogenic | 244,453 |
Gene PKD1 variant at chromosome position 2092542 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | ACTCGGCAGGACACAGGGTAGAGAGCCCAGTCCCAGGGCACAGCACCAACAGGGCCTGGGCCACGCTCCAGAGGGAGTCCACACAGGAAGACACGAGCTGCGGGGAAGGCGACACCAGTGAGGGCGTACAGCTGAGCTGAGCTGAGCTAAGACGCCCTCCCCGGCCGCGCAGTCACCTACCAGGATGGCCAGCTGGGCGTAGGCTACCCCGAGCACCACCAGGCCCAAGGTGACCCCCAGGAGCTCTGGCAGAGCTCGGCATAATGTCTTGCCAAAGACGGACCACTGGCGCACGAAGCGTAGCTGCTGGGCAGCCTGCG... | ACTCGGCAGGACACAGGGTAGAGAGCCCAGTCCCAGGGCACAGCACCAACAGGGCCTGGGCCACGCTCCAGAGGGAGTCCACACAGGAAGACACGAGCTGCGGGGAAGGCGACACCAGTGAGGGCGTACAGCTGAGCTGAGCTGAGCTAAGACGCCCTCCCCGGCCGCGCAGTCACCTACCAGGATGGCCAGCTGGGCGTAGGCTACCCCGAGCACCACCAGGCCCAAGGTGACCCCCAGGAGCTCTGGCAGAGCTCGGCATAATGTCTTGCCAAAGACGGACCACTGGCGCACGAAGCGTAGCTGCTGGGCAGCCTGCG... | pathogenic | 244,459 |
Determine if the mutation at chromosome 16, position 2093038 in gene PKD1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | AAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGA... | AAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGA... | pathogenic | 244,464 |
Considering the variant on chromosome 16, location 2093102, involving gene PKD1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGG... | TCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGG... | benign | 244,465 |
Is the genetic variant on chromosome 16, position 2093500, gene PKD1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGG... | CGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGG... | benign | 244,469 |
Gene mutation in PKD1 at chromosome 16, position 2093593—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | GCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAG... | GCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAG... | pathogenic | 244,470 |
Is the genetic variant on chromosome 16, position 2093745, gene PKD1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGC... | GCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGC... | benign | 244,472 |
A genetic variant on chromosome 16, position 2093886, affects the gene PKD1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Inborn_genetic_diseases', 'Polycystic_kidney_disease,_adult_type'] | AGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGG... | AGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGG... | pathogenic | 244,477 |
Gene mutation in PKD1 at chromosome 16, position 2093916—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | CCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGT... | CCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGT... | pathogenic | 244,480 |
Variant chromosome 16, position 2093962, gene PKD1: benign or pathogenic? Disease(s)? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | AGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAA... | AGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAA... | pathogenic | 244,482 |
A genetic variant on chromosome 16, position 2094168, affects the gene PKD1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Inborn_genetic_diseases', 'Polycystic_kidney_disease,_adult_type'] | CGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAG... | CGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAG... | pathogenic | 244,486 |
Determine if the mutation at chromosome 16, position 2094181 in gene PKD1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAA... | GCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAA... | pathogenic | 244,490 |
The chromosome 16, position 2094193 genetic variant in gene PKD1: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCAC... | CGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCAC... | pathogenic | 244,491 |
The mutation in gene PKD1 (polycystin 1, transient receptor potential channel interacting) at chromosome 16, position 2097184—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GTGGTGGCTCACGCCTGTAATCTCAGCATTTTGGGAGGCTGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCTAAGATGGTGAAACCTCCTCTCTACTAAAACACACACACAAAAAATTAGCCGGCTGTGGCGGCGGGCGCCTGTAATCTTAGCTACTTGGGAGGCTGAGGCAGATAACTGCTTGAACGTGGGAGGCAGACTTTGCAGTGAGCCGAGATCATGCGACTGCACTCCAGTCTGGGCAACAGAGACTCCATCTCAAAAAAATAAATAAAAATAAAAAATAACCCAGCCTCAACTATTCCTT... | GTGGTGGCTCACGCCTGTAATCTCAGCATTTTGGGAGGCTGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCTAAGATGGTGAAACCTCCTCTCTACTAAAACACACACACAAAAAATTAGCCGGCTGTGGCGGCGGGCGCCTGTAATCTTAGCTACTTGGGAGGCTGAGGCAGATAACTGCTTGAACGTGGGAGGCAGACTTTGCAGTGAGCCGAGATCATGCGACTGCACTCCAGTCTGGGCAACAGAGACTCCATCTCAAAAAAATAAATAAAAATAAAAAATAACCCAGCCTCAACTATTCCTT... | pathogenic | 244,492 |
Determine whether the variant at chromosome 16, position 2097205, in gene PKD1 (polycystin 1, transient receptor potential channel interacting) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | CTCAGCATTTTGGGAGGCTGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCTAAGATGGTGAAACCTCCTCTCTACTAAAACACACACACAAAAAATTAGCCGGCTGTGGCGGCGGGCGCCTGTAATCTTAGCTACTTGGGAGGCTGAGGCAGATAACTGCTTGAACGTGGGAGGCAGACTTTGCAGTGAGCCGAGATCATGCGACTGCACTCCAGTCTGGGCAACAGAGACTCCATCTCAAAAAAATAAATAAAAATAAAAAATAACCCAGCCTCAACTATTCCTTTATAGCAACACAAATGACTCA... | CTCAGCATTTTGGGAGGCTGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCTAAGATGGTGAAACCTCCTCTCTACTAAAACACACACACAAAAAATTAGCCGGCTGTGGCGGCGGGCGCCTGTAATCTTAGCTACTTGGGAGGCTGAGGCAGATAACTGCTTGAACGTGGGAGGCAGACTTTGCAGTGAGCCGAGATCATGCGACTGCACTCCAGTCTGGGCAACAGAGACTCCATCTCAAAAAAATAAATAAAAATAAAAAATAACCCAGCCTCAACTATTCCTTTATAGCAACACAAATGACTCA... | pathogenic | 244,494 |
Determine whether the variant at chromosome 16, position 2097443, in gene PKD1 (polycystin 1, transient receptor potential channel interacting) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | AGAGACTCCATCTCAAAAAAATAAATAAAAATAAAAAATAACCCAGCCTCAACTATTCCTTTATAGCAACACAAATGACTCAGGGTCTGACTCAGGGAGCAGGCTCTCGCTGGCAGAGACGGAGAATGGCCAATAGGGAGGCATGGAGTGGCAGGGAATGCCAGGGCAGAGGCGCCGCCAGGACGGAGGGTGCAGGCTCAGGCGCAGGGAAGGCCGTGCTCTGCGTTGGGAAAGGAGCCACGGGACGCGCTGGAGGCTGCAGTGAGGAAGGACGCAGAGGGGTCCAGGACAAACCCAAGCCTCCGACCTGGTCAGCCCGA... | AGAGACTCCATCTCAAAAAAATAAATAAAAATAAAAAATAACCCAGCCTCAACTATTCCTTTATAGCAACACAAATGACTCAGGGTCTGACTCAGGGAGCAGGCTCTCGCTGGCAGAGACGGAGAATGGCCAATAGGGAGGCATGGAGTGGCAGGGAATGCCAGGGCAGAGGCGCCGCCAGGACGGAGGGTGCAGGCTCAGGCGCAGGGAAGGCCGTGCTCTGCGTTGGGAAAGGAGCCACGGGACGCGCTGGAGGCTGCAGTGAGGAAGGACGCAGAGGGGTCCAGGACAAACCCAAGCCTCCGACCTGGTCAGCCCGA... | pathogenic | 244,504 |
Evaluate this variant at chromosome 16, position 2097490, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CTCAACTATTCCTTTATAGCAACACAAATGACTCAGGGTCTGACTCAGGGAGCAGGCTCTCGCTGGCAGAGACGGAGAATGGCCAATAGGGAGGCATGGAGTGGCAGGGAATGCCAGGGCAGAGGCGCCGCCAGGACGGAGGGTGCAGGCTCAGGCGCAGGGAAGGCCGTGCTCTGCGTTGGGAAAGGAGCCACGGGACGCGCTGGAGGCTGCAGTGAGGAAGGACGCAGAGGGGTCCAGGACAAACCCAAGCCTCCGACCTGGTCAGCCCGAAGCACTGTCCGAGCAAGGGACGGCCAAGGGTTGAGGAAGCCGGGAGG... | CTCAACTATTCCTTTATAGCAACACAAATGACTCAGGGTCTGACTCAGGGAGCAGGCTCTCGCTGGCAGAGACGGAGAATGGCCAATAGGGAGGCATGGAGTGGCAGGGAATGCCAGGGCAGAGGCGCCGCCAGGACGGAGGGTGCAGGCTCAGGCGCAGGGAAGGCCGTGCTCTGCGTTGGGAAAGGAGCCACGGGACGCGCTGGAGGCTGCAGTGAGGAAGGACGCAGAGGGGTCCAGGACAAACCCAAGCCTCCGACCTGGTCAGCCCGAAGCACTGTCCGAGCAAGGGACGGCCAAGGGTTGAGGAAGCCGGGAGG... | pathogenic | 244,508 |
A genetic alteration at chromosome 16, position 2097582, in gene PKD1 (polycystin 1, transient receptor potential channel interacting)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GGCATGGAGTGGCAGGGAATGCCAGGGCAGAGGCGCCGCCAGGACGGAGGGTGCAGGCTCAGGCGCAGGGAAGGCCGTGCTCTGCGTTGGGAAAGGAGCCACGGGACGCGCTGGAGGCTGCAGTGAGGAAGGACGCAGAGGGGTCCAGGACAAACCCAAGCCTCCGACCTGGTCAGCCCGAAGCACTGTCCGAGCAAGGGACGGCCAAGGGTTGAGGAAGCCGGGAGGGTGAGGGCCACGCGCTCTGTGTGGATGCGGAGTCTGAGCTGCCGTCAGAAATCCCCGCGGAAGCACTGAATCTGGATTTCACAGAGCTTTGG... | GGCATGGAGTGGCAGGGAATGCCAGGGCAGAGGCGCCGCCAGGACGGAGGGTGCAGGCTCAGGCGCAGGGAAGGCCGTGCTCTGCGTTGGGAAAGGAGCCACGGGACGCGCTGGAGGCTGCAGTGAGGAAGGACGCAGAGGGGTCCAGGACAAACCCAAGCCTCCGACCTGGTCAGCCCGAAGCACTGTCCGAGCAAGGGACGGCCAAGGGTTGAGGAAGCCGGGAGGGTGAGGGCCACGCGCTCTGTGTGGATGCGGAGTCTGAGCTGCCGTCAGAAATCCCCGCGGAAGCACTGAATCTGGATTTCACAGAGCTTTGG... | benign | 244,511 |
Does the chromosome 16 mutation at position 2097824 within gene PKD1 (polycystin 1, transient receptor potential channel interacting) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | CTCTGTGTGGATGCGGAGTCTGAGCTGCCGTCAGAAATCCCCGCGGAAGCACTGAATCTGGATTTCACAGAGCTTTGGGCCGGAGATACCTGGGGCTGGTCAGCATGTAGTGACTACCCCTGGATTTCCCCATACTCTGTATTTTTAAAACCAACCAGCAATTTATTCATAAAGATGCCCTCATGTGATGGTTATCTGCCTTTTGTAAATCAGGAAGTTTTCCTTTTTGTTTGAGTCCAGGGGCAGTTCATACCTCTTTAGTTCTTGGTTGCTTAACAATGAGAAGCACTCAAAGGAATAACACACAAATCAAACTAGAT... | CTCTGTGTGGATGCGGAGTCTGAGCTGCCGTCAGAAATCCCCGCGGAAGCACTGAATCTGGATTTCACAGAGCTTTGGGCCGGAGATACCTGGGGCTGGTCAGCATGTAGTGACTACCCCTGGATTTCCCCATACTCTGTATTTTTAAAACCAACCAGCAATTTATTCATAAAGATGCCCTCATGTGATGGTTATCTGCCTTTTGTAAATCAGGAAGTTTTCCTTTTTGTTTGAGTCCAGGGGCAGTTCATACCTCTTTAGTTCTTGGTTGCTTAACAATGAGAAGCACTCAAAGGAATAACACACAAATCAAACTAGAT... | pathogenic | 244,514 |
Clinical significance of chromosome 16, position 2099776, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTCTTAGAATCATCCAGAAACAAGTCACTCTTCATCTGTCCAACAAAGGCCTGCTGAGAGGTGCACAGTGTCTTGAGTCCAAGCTGCGCCAAGGCGGCAGGACCCCCAGCCCAGCCCAGGACCCCCAGTAGAGTCCTCACCTCAGCGTGGAGGCCTGAGAACGTGAGGAAGGAGCTGTCCAGCACGGACGAGTCCAGGCAGCTGTCGATGTCCAGCACCTGCTGCCCGGCAGGTGTGGGGCTCGGGCTCCCAGCCACCTGCAGGACGAGGGCAGTGGTCAGCGGGCGGCAGCTCAGACCTGCTCAGGACAGGGATGAGAA... | CTCTTAGAATCATCCAGAAACAAGTCACTCTTCATCTGTCCAACAAAGGCCTGCTGAGAGGTGCACAGTGTCTTGAGTCCAAGCTGCGCCAAGGCGGCAGGACCCCCAGCCCAGCCCAGGACCCCCAGTAGAGTCCTCACCTCAGCGTGGAGGCCTGAGAACGTGAGGAAGGAGCTGTCCAGCACGGACGAGTCCAGGCAGCTGTCGATGTCCAGCACCTGCTGCCCGGCAGGTGTGGGGCTCGGGCTCCCAGCCACCTGCAGGACGAGGGCAGTGGTCAGCGGGCGGCAGCTCAGACCTGCTCAGGACAGGGATGAGAA... | benign | 244,525 |
Classify the chromosome 16 variant at position 2099909 affecting gene PKD1 (polycystin 1, transient receptor potential channel interacting) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | TCCTCACCTCAGCGTGGAGGCCTGAGAACGTGAGGAAGGAGCTGTCCAGCACGGACGAGTCCAGGCAGCTGTCGATGTCCAGCACCTGCTGCCCGGCAGGTGTGGGGCTCGGGCTCCCAGCCACCTGCAGGACGAGGGCAGTGGTCAGCGGGCGGCAGCTCAGACCTGCTCAGGACAGGGATGAGAAGCCACCTCCTCAGCAGACAGGACAGAGCCCGGTGCCATCTGACAGAATGTCCTAGAATGCTGGATATATGGGACATCTGCACCGTCCGTGATGGCAGCCCCTCGCGACGTGTGCCACTGAACACTTGACAGCA... | TCCTCACCTCAGCGTGGAGGCCTGAGAACGTGAGGAAGGAGCTGTCCAGCACGGACGAGTCCAGGCAGCTGTCGATGTCCAGCACCTGCTGCCCGGCAGGTGTGGGGCTCGGGCTCCCAGCCACCTGCAGGACGAGGGCAGTGGTCAGCGGGCGGCAGCTCAGACCTGCTCAGGACAGGGATGAGAAGCCACCTCCTCAGCAGACAGGACAGAGCCCGGTGCCATCTGACAGAATGTCCTAGAATGCTGGATATATGGGACATCTGCACCGTCCGTGATGGCAGCCCCTCGCGACGTGTGCCACTGAACACTTGACAGCA... | pathogenic | 244,527 |
Is the genetic variant on chromosome 16, position 2099954, gene PKD1 (polycystin 1, transient receptor potential channel interacting), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CCAGCACGGACGAGTCCAGGCAGCTGTCGATGTCCAGCACCTGCTGCCCGGCAGGTGTGGGGCTCGGGCTCCCAGCCACCTGCAGGACGAGGGCAGTGGTCAGCGGGCGGCAGCTCAGACCTGCTCAGGACAGGGATGAGAAGCCACCTCCTCAGCAGACAGGACAGAGCCCGGTGCCATCTGACAGAATGTCCTAGAATGCTGGATATATGGGACATCTGCACCGTCCGTGATGGCAGCCCCTCGCGACGTGTGCCACTGAACACTTGACAGCAGACTGGTGCAGCTAAGGAACAGAGTTTTAAATTTCATATTTTCTT... | CCAGCACGGACGAGTCCAGGCAGCTGTCGATGTCCAGCACCTGCTGCCCGGCAGGTGTGGGGCTCGGGCTCCCAGCCACCTGCAGGACGAGGGCAGTGGTCAGCGGGCGGCAGCTCAGACCTGCTCAGGACAGGGATGAGAAGCCACCTCCTCAGCAGACAGGACAGAGCCCGGTGCCATCTGACAGAATGTCCTAGAATGCTGGATATATGGGACATCTGCACCGTCCGTGATGGCAGCCCCTCGCGACGTGTGCCACTGAACACTTGACAGCAGACTGGTGCAGCTAAGGAACAGAGTTTTAAATTTCATATTTTCTT... | pathogenic | 244,528 |
Clinical classification of chromosome 16, position 2100194, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CCCTCGCGACGTGTGCCACTGAACACTTGACAGCAGACTGGTGCAGCTAAGGAACAGAGTTTTAAATTTCATATTTTCTTTTTTAGATGGAGTCTCGCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGCGTTCAGGCGATTGTCCTGGCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGGAACTCCTGACCTCAAGTGATCTGCCCGCCTCCGC... | CCCTCGCGACGTGTGCCACTGAACACTTGACAGCAGACTGGTGCAGCTAAGGAACAGAGTTTTAAATTTCATATTTTCTTTTTTAGATGGAGTCTCGCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGCGTTCAGGCGATTGTCCTGGCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGGAACTCCTGACCTCAAGTGATCTGCCCGCCTCCGC... | pathogenic | 244,535 |
Does the genetic variant at chromosome 16, position 2100397, impacting gene PKD1 (polycystin 1, transient receptor potential channel interacting), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Inborn_genetic_diseases', 'Polycystic_kidney_disease,_adult_type'] | CAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGGAACTCCTGACCTCAAGTGATCTGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCATCGTTCCATTTTAATTAACTTAAATACGAGCAGCCACATGTGGCCTCTGGTTCCTGCCACGGACTCGGGAGCAACCCCTCCTGGTCGCGGCTTATGCGCCTTCTCTGTGTGCTGCTGGGGTTAGTTTGCATGTAACCTCTTGAGGACCCCACGTGTG... | CAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGGAACTCCTGACCTCAAGTGATCTGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCATCGTTCCATTTTAATTAACTTAAATACGAGCAGCCACATGTGGCCTCTGGTTCCTGCCACGGACTCGGGAGCAACCCCTCCTGGTCGCGGCTTATGCGCCTTCTCTGTGTGCTGCTGGGGTTAGTTTGCATGTAACCTCTTGAGGACCCCACGTGTG... | pathogenic | 244,544 |
Mutation found at chromosome 16 position 2102161, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | AGGACCACCCTGCCCAACCTCCCACGGAGTGGGAACATGGAACGAGGCCTTACTCGCGGCCAGCACCTCCTTCTCCACCAGGCCCCCGTTGGCCTCCGTCTCCACCGAAAGCCAGTCATTGACCAGGAAGAAGGCGCTGCGTGCCGTCTGCAGGTCCCTGACGATGACGTGCTGCAGGAACCAGGCAGGGCTGAGCCCTGCAGAGGCGCAGGAGGGAGGTCAGGCTCGCAGGGCGCCCCAATGCGGGGGCAGAGGGGCAGAGCTTGGCAGGGTCCGCACAAACCTTTGTTGTCGTGCCACACTCGGATCTTCCACACGCT... | AGGACCACCCTGCCCAACCTCCCACGGAGTGGGAACATGGAACGAGGCCTTACTCGCGGCCAGCACCTCCTTCTCCACCAGGCCCCCGTTGGCCTCCGTCTCCACCGAAAGCCAGTCATTGACCAGGAAGAAGGCGCTGCGTGCCGTCTGCAGGTCCCTGACGATGACGTGCTGCAGGAACCAGGCAGGGCTGAGCCCTGCAGAGGCGCAGGAGGGAGGTCAGGCTCGCAGGGCGCCCCAATGCGGGGGCAGAGGGGCAGAGCTTGGCAGGGTCCGCACAAACCTTTGTTGTCGTGCCACACTCGGATCTTCCACACGCT... | pathogenic | 244,555 |
Clinically, how would you classify the variant at chromosome 16, position 2102216, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | GCGGCCAGCACCTCCTTCTCCACCAGGCCCCCGTTGGCCTCCGTCTCCACCGAAAGCCAGTCATTGACCAGGAAGAAGGCGCTGCGTGCCGTCTGCAGGTCCCTGACGATGACGTGCTGCAGGAACCAGGCAGGGCTGAGCCCTGCAGAGGCGCAGGAGGGAGGTCAGGCTCGCAGGGCGCCCCAATGCGGGGGCAGAGGGGCAGAGCTTGGCAGGGTCCGCACAAACCTTTGTTGTCGTGCCACACTCGGATCTTCCACACGCTACCCAGGCTGTGCGGGGTGGCGATCCGGAAGATGTCCAGGCTGTTGCGGTGGAAG... | GCGGCCAGCACCTCCTTCTCCACCAGGCCCCCGTTGGCCTCCGTCTCCACCGAAAGCCAGTCATTGACCAGGAAGAAGGCGCTGCGTGCCGTCTGCAGGTCCCTGACGATGACGTGCTGCAGGAACCAGGCAGGGCTGAGCCCTGCAGAGGCGCAGGAGGGAGGTCAGGCTCGCAGGGCGCCCCAATGCGGGGGCAGAGGGGCAGAGCTTGGCAGGGTCCGCACAAACCTTTGTTGTCGTGCCACACTCGGATCTTCCACACGCTACCCAGGCTGTGCGGGGTGGCGATCCGGAAGATGTCCAGGCTGTTGCGGTGGAAG... | pathogenic | 244,557 |
The mutation in gene PKD1 (polycystin 1, transient receptor potential channel interacting) at chromosome 16, position 2102609—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | TGGTACCTGGGAGGCAAGAGGGAGGGGTGGGAGGCTCGGTCTGCTGCCCAACACGTGTGGCATCCCAGGCAAGTCATCTCAGCTTTGGCCTGTGCGCACTCAAGGAGCCACACAGGCAGTCCCGGCTTTGCACGGCTCTGCCATACACAAGGAGCTGCGGTTACTGCAATTTGTCCAATTAACAGCAGGACCTCAAGGACATGATTAAGTTACATGGAAAGAACTGTAACTTGTGACATGCAAACATGGCTGCACACGCCTCAGTCCACACCACAACCAGTGACCCGCACTGCACACCTGTCCACGCCTCAGTCATGCCA... | TGGTACCTGGGAGGCAAGAGGGAGGGGTGGGAGGCTCGGTCTGCTGCCCAACACGTGTGGCATCCCAGGCAAGTCATCTCAGCTTTGGCCTGTGCGCACTCAAGGAGCCACACAGGCAGTCCCGGCTTTGCACGGCTCTGCCATACACAAGGAGCTGCGGTTACTGCAATTTGTCCAATTAACAGCAGGACCTCAAGGACATGATTAAGTTACATGGAAAGAACTGTAACTTGTGACATGCAAACATGGCTGCACACGCCTCAGTCCACACCACAACCAGTGACCCGCACTGCACACCTGTCCACGCCTCAGTCATGCCA... | pathogenic | 244,569 |
Does the chromosome 16 mutation at position 2102824 within gene PKD1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Inborn_genetic_diseases', 'Polycystic_kidney_disease,_adult_type'] | GGAAAGAACTGTAACTTGTGACATGCAAACATGGCTGCACACGCCTCAGTCCACACCACAACCAGTGACCCGCACTGCACACCTGTCCACGCCTCAGTCATGCCACAACCGGTGACCCGCACCACACACCCGTCCCTCAGTTCATGCACAGACTGCAAAGCGTGAAGCTGTGTCACCTCCTCTCCCAGTGACAGACCCAGGTGACAGTATTTTTTTTCTTTTTTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC... | GGAAAGAACTGTAACTTGTGACATGCAAACATGGCTGCACACGCCTCAGTCCACACCACAACCAGTGACCCGCACTGCACACCTGTCCACGCCTCAGTCATGCCACAACCGGTGACCCGCACCACACACCCGTCCCTCAGTTCATGCACAGACTGCAAAGCGTGAAGCTGTGTCACCTCCTCTCCCAGTGACAGACCCAGGTGACAGTATTTTTTTTCTTTTTTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC... | pathogenic | 244,577 |
Chromosome 16, position 2102852, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | ACATGGCTGCACACGCCTCAGTCCACACCACAACCAGTGACCCGCACTGCACACCTGTCCACGCCTCAGTCATGCCACAACCGGTGACCCGCACCACACACCCGTCCCTCAGTTCATGCACAGACTGCAAAGCGTGAAGCTGTGTCACCTCCTCTCCCAGTGACAGACCCAGGTGACAGTATTTTTTTTCTTTTTTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGGAGCTGGGAC... | ACATGGCTGCACACGCCTCAGTCCACACCACAACCAGTGACCCGCACTGCACACCTGTCCACGCCTCAGTCATGCCACAACCGGTGACCCGCACCACACACCCGTCCCTCAGTTCATGCACAGACTGCAAAGCGTGAAGCTGTGTCACCTCCTCTCCCAGTGACAGACCCAGGTGACAGTATTTTTTTTCTTTTTTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGGAGCTGGGAC... | pathogenic | 244,581 |
Clinically, how would you classify the variant at chromosome 16, position 2103298, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CTCGGATTACAGGTGTGAGCCACCGCGCCCGGCCGACAGTTTTTAAAAGTAGGTAATCAAAAGAAAGAACTGGGCAATGAAGAGGAAAGCAGCACAGAGATAAAAAATGGGAACACAGCCAGGTGTGGTGGCTCACACCTGTCATCCCAGCACTCTGGCAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGCCTGGCTGACATGGTGAAAAATTAACTGGGTGTGGTGGTGTGCACCTGTACTCCCAGCTACTCAGGAGAATCGCTTAAGGGGAATGGCTTAAACCCGGGAGCTGGAAGTTGCTGTGAGCCAAG... | CTCGGATTACAGGTGTGAGCCACCGCGCCCGGCCGACAGTTTTTAAAAGTAGGTAATCAAAAGAAAGAACTGGGCAATGAAGAGGAAAGCAGCACAGAGATAAAAAATGGGAACACAGCCAGGTGTGGTGGCTCACACCTGTCATCCCAGCACTCTGGCAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGCCTGGCTGACATGGTGAAAAATTAACTGGGTGTGGTGGTGTGCACCTGTACTCCCAGCTACTCAGGAGAATCGCTTAAGGGGAATGGCTTAAACCCGGGAGCTGGAAGTTGCTGTGAGCCAAG... | pathogenic | 244,587 |
Evaluate this variant at chromosome 16, position 2103344, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | AAGTAGGTAATCAAAAGAAAGAACTGGGCAATGAAGAGGAAAGCAGCACAGAGATAAAAAATGGGAACACAGCCAGGTGTGGTGGCTCACACCTGTCATCCCAGCACTCTGGCAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGCCTGGCTGACATGGTGAAAAATTAACTGGGTGTGGTGGTGTGCACCTGTACTCCCAGCTACTCAGGAGAATCGCTTAAGGGGAATGGCTTAAACCCGGGAGCTGGAAGTTGCTGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTC... | AAGTAGGTAATCAAAAGAAAGAACTGGGCAATGAAGAGGAAAGCAGCACAGAGATAAAAAATGGGAACACAGCCAGGTGTGGTGGCTCACACCTGTCATCCCAGCACTCTGGCAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGCCTGGCTGACATGGTGAAAAATTAACTGGGTGTGGTGGTGTGCACCTGTACTCCCAGCTACTCAGGAGAATCGCTTAAGGGGAATGGCTTAAACCCGGGAGCTGGAAGTTGCTGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTC... | pathogenic | 244,589 |
The mutation impacting PKD1 (polycystin 1, transient receptor potential channel interacting) on chromosome 16 at position 2103687: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | AAAAAGGGAATGCCAGAAGGGCAATTCCAATGAAAGGAAAATGGAGGTACTGAAGAAACAGCCACGGGGAGGGTGCTGGCGCCTCCGTCTGAGAGACGAGCTATGCAGTCAGGATCGCGGGTGGATGCACAGTCTCCCACAGTGGTAGCGATGCTCACGTCACTTGTGGGGCCACGCTACTGTGCAGAACGTGGGCTGCCCACCCTGACTGACTGGCACCTACTTCCAGCTAGGAGCTGTCCTAGTCCTCAGGGACAGTGAGTGCTCACGAGGTCATTCCCAGGATGAACACACGAGCCCTTCACACAGCACTGCAAAAA... | AAAAAGGGAATGCCAGAAGGGCAATTCCAATGAAAGGAAAATGGAGGTACTGAAGAAACAGCCACGGGGAGGGTGCTGGCGCCTCCGTCTGAGAGACGAGCTATGCAGTCAGGATCGCGGGTGGATGCACAGTCTCCCACAGTGGTAGCGATGCTCACGTCACTTGTGGGGCCACGCTACTGTGCAGAACGTGGGCTGCCCACCCTGACTGACTGGCACCTACTTCCAGCTAGGAGCTGTCCTAGTCCTCAGGGACAGTGAGTGCTCACGAGGTCATTCCCAGGATGAACACACGAGCCCTTCACACAGCACTGCAAAAA... | pathogenic | 244,609 |
Does the chromosome 16 mutation at position 2103723 within gene PKD1 (polycystin 1, transient receptor potential channel interacting) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GAAAATGGAGGTACTGAAGAAACAGCCACGGGGAGGGTGCTGGCGCCTCCGTCTGAGAGACGAGCTATGCAGTCAGGATCGCGGGTGGATGCACAGTCTCCCACAGTGGTAGCGATGCTCACGTCACTTGTGGGGCCACGCTACTGTGCAGAACGTGGGCTGCCCACCCTGACTGACTGGCACCTACTTCCAGCTAGGAGCTGTCCTAGTCCTCAGGGACAGTGAGTGCTCACGAGGTCATTCCCAGGATGAACACACGAGCCCTTCACACAGCACTGCAAAAACTGCCTTGTTCTGACGCCTGCGACGAGACTCACTCC... | GAAAATGGAGGTACTGAAGAAACAGCCACGGGGAGGGTGCTGGCGCCTCCGTCTGAGAGACGAGCTATGCAGTCAGGATCGCGGGTGGATGCACAGTCTCCCACAGTGGTAGCGATGCTCACGTCACTTGTGGGGCCACGCTACTGTGCAGAACGTGGGCTGCCCACCCTGACTGACTGGCACCTACTTCCAGCTAGGAGCTGTCCTAGTCCTCAGGGACAGTGAGTGCTCACGAGGTCATTCCCAGGATGAACACACGAGCCCTTCACACAGCACTGCAAAAACTGCCTTGTTCTGACGCCTGCGACGAGACTCACTCC... | pathogenic | 244,614 |
Variant chromosome 16, position 2103739, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Disease(s)? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | AAGAAACAGCCACGGGGAGGGTGCTGGCGCCTCCGTCTGAGAGACGAGCTATGCAGTCAGGATCGCGGGTGGATGCACAGTCTCCCACAGTGGTAGCGATGCTCACGTCACTTGTGGGGCCACGCTACTGTGCAGAACGTGGGCTGCCCACCCTGACTGACTGGCACCTACTTCCAGCTAGGAGCTGTCCTAGTCCTCAGGGACAGTGAGTGCTCACGAGGTCATTCCCAGGATGAACACACGAGCCCTTCACACAGCACTGCAAAAACTGCCTTGTTCTGACGCCTGCGACGAGACTCACTCCCAGAGGGTGCAACCAG... | AAGAAACAGCCACGGGGAGGGTGCTGGCGCCTCCGTCTGAGAGACGAGCTATGCAGTCAGGATCGCGGGTGGATGCACAGTCTCCCACAGTGGTAGCGATGCTCACGTCACTTGTGGGGCCACGCTACTGTGCAGAACGTGGGCTGCCCACCCTGACTGACTGGCACCTACTTCCAGCTAGGAGCTGTCCTAGTCCTCAGGGACAGTGAGTGCTCACGAGGTCATTCCCAGGATGAACACACGAGCCCTTCACACAGCACTGCAAAAACTGCCTTGTTCTGACGCCTGCGACGAGACTCACTCCCAGAGGGTGCAACCAG... | pathogenic | 244,615 |
Does the variant impacting PKD1 (polycystin 1, transient receptor potential channel interacting) on chromosome 16, position 2103814, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CACAGTCTCCCACAGTGGTAGCGATGCTCACGTCACTTGTGGGGCCACGCTACTGTGCAGAACGTGGGCTGCCCACCCTGACTGACTGGCACCTACTTCCAGCTAGGAGCTGTCCTAGTCCTCAGGGACAGTGAGTGCTCACGAGGTCATTCCCAGGATGAACACACGAGCCCTTCACACAGCACTGCAAAAACTGCCTTGTTCTGACGCCTGCGACGAGACTCACTCCCAGAGGGTGCAACCAGCACAGCCAGTGAGAGCAGGGGAGGCCCTGCCACCCCGCTGCGCCCCTCACCTGAGCCCCGGCCCCAGCCTGTCTT... | CACAGTCTCCCACAGTGGTAGCGATGCTCACGTCACTTGTGGGGCCACGCTACTGTGCAGAACGTGGGCTGCCCACCCTGACTGACTGGCACCTACTTCCAGCTAGGAGCTGTCCTAGTCCTCAGGGACAGTGAGTGCTCACGAGGTCATTCCCAGGATGAACACACGAGCCCTTCACACAGCACTGCAAAAACTGCCTTGTTCTGACGCCTGCGACGAGACTCACTCCCAGAGGGTGCAACCAGCACAGCCAGTGAGAGCAGGGGAGGCCCTGCCACCCCGCTGCGCCCCTCACCTGAGCCCCGGCCCCAGCCTGTCTT... | pathogenic | 244,622 |
Variant at chromosome position 2104612, chromosome 16, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CACCTGCAGCGCCGACCAGCGGAAGTGGCTGGAGAGGTTCAGATGGTAACTCCCCGCTGGGTCTCTGCTCCTGGGCAGGGAAGGGGTAGCGGACGTGAGCCCAGGCTCCGCCAGGTTGGATGTCGCAGTCTCAGAGCCCATACCCGGTCCAGTCCCCTCGCTGCCTGCCGTCCCCATGGGGCCAGTAACCCAGGCAATGCTGACCCATGATGCCCTGCCCTGCCCTGCCAGGCTGGCCCGCAGAGCTCACCCCGGGGAAATGAAGAAGGTGTAGGGCCGGTGGTCAGCACCCTGGAGTGACTCTGGGCGGATCCTCCTGC... | CACCTGCAGCGCCGACCAGCGGAAGTGGCTGGAGAGGTTCAGATGGTAACTCCCCGCTGGGTCTCTGCTCCTGGGCAGGGAAGGGGTAGCGGACGTGAGCCCAGGCTCCGCCAGGTTGGATGTCGCAGTCTCAGAGCCCATACCCGGTCCAGTCCCCTCGCTGCCTGCCGTCCCCATGGGGCCAGTAACCCAGGCAATGCTGACCCATGATGCCCTGCCCTGCCCTGCCAGGCTGGCCCGCAGAGCTCACCCCGGGGAAATGAAGAAGGTGTAGGGCCGGTGGTCAGCACCCTGGAGTGACTCTGGGCGGATCCTCCTGC... | pathogenic | 244,647 |
Regarding the variant found on chromosome 16 at position 2104642 in gene PKD1 (polycystin 1, transient receptor potential channel interacting): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | GGAGAGGTTCAGATGGTAACTCCCCGCTGGGTCTCTGCTCCTGGGCAGGGAAGGGGTAGCGGACGTGAGCCCAGGCTCCGCCAGGTTGGATGTCGCAGTCTCAGAGCCCATACCCGGTCCAGTCCCCTCGCTGCCTGCCGTCCCCATGGGGCCAGTAACCCAGGCAATGCTGACCCATGATGCCCTGCCCTGCCCTGCCAGGCTGGCCCGCAGAGCTCACCCCGGGGAAATGAAGAAGGTGTAGGGCCGGTGGTCAGCACCCTGGAGTGACTCTGGGCGGATCCTCCTGCTAGCCGAGCAGTTGTGCTCATTGGGCCGGG... | GGAGAGGTTCAGATGGTAACTCCCCGCTGGGTCTCTGCTCCTGGGCAGGGAAGGGGTAGCGGACGTGAGCCCAGGCTCCGCCAGGTTGGATGTCGCAGTCTCAGAGCCCATACCCGGTCCAGTCCCCTCGCTGCCTGCCGTCCCCATGGGGCCAGTAACCCAGGCAATGCTGACCCATGATGCCCTGCCCTGCCCTGCCAGGCTGGCCCGCAGAGCTCACCCCGGGGAAATGAAGAAGGTGTAGGGCCGGTGGTCAGCACCCTGGAGTGACTCTGGGCGGATCCTCCTGCTAGCCGAGCAGTTGTGCTCATTGGGCCGGG... | pathogenic | 244,653 |
Mutation found at chromosome 16 position 2105348, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CCCGGCCGCAGGGTTGCTGCTGTCCAGGGTGACCACAGCACCGACGGAGGCCTGGGGCTGGACCACAACGGAGTTGGCGGAGTTGGCGGAGCTGCGGTGGCCCCGGGCAGCCCAGTCCGAGTTGTTGGGCACCTTCACGGTGATGGCGCGCTCTGAGGCCAGCCGCTCGATGGGGATCTGGGCGCCGGCCTGTGTCTGGAATGCCATCGAGGCCACCTTGGTGGAGACGGTGTAGTTGCTGATATAGCCAAAGGGAAAGGGATTGGAGTCCACCAGAAAGATGAGCTGCACCACGTCACTGAGGTTGGCCAGGGCCCCGC... | CCCGGCCGCAGGGTTGCTGCTGTCCAGGGTGACCACAGCACCGACGGAGGCCTGGGGCTGGACCACAACGGAGTTGGCGGAGTTGGCGGAGCTGCGGTGGCCCCGGGCAGCCCAGTCCGAGTTGTTGGGCACCTTCACGGTGATGGCGCGCTCTGAGGCCAGCCGCTCGATGGGGATCTGGGCGCCGGCCTGTGTCTGGAATGCCATCGAGGCCACCTTGGTGGAGACGGTGTAGTTGCTGATATAGCCAAAGGGAAAGGGATTGGAGTCCACCAGAAAGATGAGCTGCACCACGTCACTGAGGTTGGCCAGGGCCCCGC... | pathogenic | 244,663 |
Is the genetic variant on chromosome 16, position 2105888, gene PKD1 (polycystin 1, transient receptor potential channel interacting), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | CAGCTCTGAGGGCTGTGGTGCCCGCACGTCCGAGCTGGCCAGGTGGATGAGGTCTCCTGCAGACATGCGTGAGGTCAGTGCAGAGACAGGGAGGTAGAGGGAGGGTGGGGGCAGGCAAAAAGGGGGAGCCGGAGGGTGGGGGCTGGGAGAAAGGGGGAACCTGAGGGGGCAGAGAGCGAGGTGCAGGCAGAAGGAAGGGGGAAGCTGGAGAGAGAGTGGTGGAGGGGGGAGGGGGAAGGTGATGGGGATGAGGACGAAGATGAGGGGGATGATGGGGAGAGGGAGGAAAAAGGAAGGAAAAGGGTAGAGAAAAGAGAAGG... | CAGCTCTGAGGGCTGTGGTGCCCGCACGTCCGAGCTGGCCAGGTGGATGAGGTCTCCTGCAGACATGCGTGAGGTCAGTGCAGAGACAGGGAGGTAGAGGGAGGGTGGGGGCAGGCAAAAAGGGGGAGCCGGAGGGTGGGGGCTGGGAGAAAGGGGGAACCTGAGGGGGCAGAGAGCGAGGTGCAGGCAGAAGGAAGGGGGAAGCTGGAGAGAGAGTGGTGGAGGGGGGAGGGGGAAGGTGATGGGGATGAGGACGAAGATGAGGGGGATGATGGGGAGAGGGAGGAAAAAGGAAGGAAAAGGGTAGAGAAAAGAGAAGG... | pathogenic | 244,676 |
Is the genetic mutation found on chromosome 16 at position 2106195, within the gene PKD1 (polycystin 1, transient receptor potential channel interacting), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases'] | AGAAAAGAGAAGGGAGAAGAAGAGGAGCAGGGGGAAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGATGAGGGGGATGAGGAAGATGAGGGGAATGGACAAAAGGACGGGGAGGACGGGGGGGGAAATGGAGAAAAGGGGAGAGAGATGGAGAAAAGGGATGGTAATAGGGAAGGGGGAGGGGGAGGAGAATGGGAATTGGGGGAGGGGGATGAGGATGGGAATTGGGGGGAGGGGAGGGGGACGAAGATGGGATGGGGCAAAGGCGACGCGGTTGGGGGGAGGAGGGAGGCAGAGGAAAGGGCCGCACGGGGCG... | AGAAAAGAGAAGGGAGAAGAAGAGGAGCAGGGGGAAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGATGAGGGGGATGAGGAAGATGAGGGGAATGGACAAAAGGACGGGGAGGACGGGGGGGGAAATGGAGAAAAGGGGAGAGAGATGGAGAAAAGGGATGGTAATAGGGAAGGGGGAGGGGGAGGAGAATGGGAATTGGGGGAGGGGGATGAGGATGGGAATTGGGGGGAGGGGAGGGGGACGAAGATGGGATGGGGCAAAGGCGACGCGGTTGGGGGGAGGAGGGAGGCAGAGGAAAGGGCCGCACGGGGCG... | pathogenic | 244,689 |
Is the genetic change at chromosome 16, position 2106465, within gene PKD1 (polycystin 1, transient receptor potential channel interacting) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | CGACGCGGTTGGGGGGAGGAGGGAGGCAGAGGAAAGGGCCGCACGGGGCGGGCGGGTGGCATGGGGCACGGGCCGCGGCACCTGTGATGTTGAGGATGCTGTCTCCGATGGCGGTGGGCGTCACGGTGCCCGCGGTGGTCTCTGCCTGCAGGATGAGCATCATGGCCTCCAGCTTGTGCAGCGTCTGCTTCAGGCACGAGCGGCATACGAGCTCCCTGCTGGGCCCCTGTGTGGAGCCAGCAGTGTCCAGCCCCGCTCCTGGCCCCACTCCTTGCACACGCCCTCCTCTCTACACGGGTCCTCACCTGGCTCCCACCCCC... | CGACGCGGTTGGGGGGAGGAGGGAGGCAGAGGAAAGGGCCGCACGGGGCGGGCGGGTGGCATGGGGCACGGGCCGCGGCACCTGTGATGTTGAGGATGCTGTCTCCGATGGCGGTGGGCGTCACGGTGCCCGCGGTGGTCTCTGCCTGCAGGATGAGCATCATGGCCTCCAGCTTGTGCAGCGTCTGCTTCAGGCACGAGCGGCATACGAGCTCCCTGCTGGGCCCCTGTGTGGAGCCAGCAGTGTCCAGCCCCGCTCCTGGCCCCACTCCTTGCACACGCCCTCCTCTCTACACGGGTCCTCACCTGGCTCCCACCCCC... | pathogenic | 244,704 |
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