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 |
|---|---|---|---|---|---|
Clinical classification of chromosome 16, position 2106648, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | TCTGCTTCAGGCACGAGCGGCATACGAGCTCCCTGCTGGGCCCCTGTGTGGAGCCAGCAGTGTCCAGCCCCGCTCCTGGCCCCACTCCTTGCACACGCCCTCCTCTCTACACGGGTCCTCACCTGGCTCCCACCCCCAGCCCTGCAGCTGGAGAGCCCACTTGACTGGACCCCCACAGCCTCCTCACTAAGCATTTTCTGTGGCTCTGCATGACCCAGGGCCTCCACCTGGGGACCACGTGATGCAGCCCACCGACCACACAAGGCACCTCTTCACATGAGAGCGGAGGAGGAGGGGAGAGAGGAGAGGGGAGTGGAGAA... | TCTGCTTCAGGCACGAGCGGCATACGAGCTCCCTGCTGGGCCCCTGTGTGGAGCCAGCAGTGTCCAGCCCCGCTCCTGGCCCCACTCCTTGCACACGCCCTCCTCTCTACACGGGTCCTCACCTGGCTCCCACCCCCAGCCCTGCAGCTGGAGAGCCCACTTGACTGGACCCCCACAGCCTCCTCACTAAGCATTTTCTGTGGCTCTGCATGACCCAGGGCCTCCACCTGGGGACCACGTGATGCAGCCCACCGACCACACAAGGCACCTCTTCACATGAGAGCGGAGGAGGAGGGGAGAGAGGAGAGGGGAGTGGAGAA... | pathogenic | 244,710 |
Regarding the variant at chromosome 16 and position 2107902, affecting gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GCTGCACTCACCTCGTTCAGCACGGTGACCAGGGCCAACGAGTACTCGATGACGTGCTGGGGATCGGCCTGCCGCAGCAGCCCTGGGAGCACACTAGCGGTGAGCCCGTGCAGCCAGACTGTGAGCCCCGTTGCGCTGCCGTTGGGCTCTGGGAGGGTGATGGCCAAAGACCTACGAGCAGAGGGGGGTGGTGAGCAGGTGGCAGTCTCGGGGGCGCCCTCCCACGGCCTGGCTCACCTGTTGAGGGCGACCACAGCGGCTCCCAGCTGGTCCTGCACCACCACGGCCAGGCCCACCTCGAAGTGTGGCCTGAAACCCGG... | GCTGCACTCACCTCGTTCAGCACGGTGACCAGGGCCAACGAGTACTCGATGACGTGCTGGGGATCGGCCTGCCGCAGCAGCCCTGGGAGCACACTAGCGGTGAGCCCGTGCAGCCAGACTGTGAGCCCCGTTGCGCTGCCGTTGGGCTCTGGGAGGGTGATGGCCAAAGACCTACGAGCAGAGGGGGGTGGTGAGCAGGTGGCAGTCTCGGGGGCGCCCTCCCACGGCCTGGCTCACCTGTTGAGGGCGACCACAGCGGCTCCCAGCTGGTCCTGCACCACCACGGCCAGGCCCACCTCGAAGTGTGGCCTGAAACCCGG... | pathogenic | 244,727 |
Evaluate the clinical significance of the mutation at chromosome 16, position 2107947 in gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | TCGATGACGTGCTGGGGATCGGCCTGCCGCAGCAGCCCTGGGAGCACACTAGCGGTGAGCCCGTGCAGCCAGACTGTGAGCCCCGTTGCGCTGCCGTTGGGCTCTGGGAGGGTGATGGCCAAAGACCTACGAGCAGAGGGGGGTGGTGAGCAGGTGGCAGTCTCGGGGGCGCCCTCCCACGGCCTGGCTCACCTGTTGAGGGCGACCACAGCGGCTCCCAGCTGGTCCTGCACCACCACGGCCAGGCCCACCTCGAAGTGTGGCCTGAAACCCGGGGGCAGCACGGCTCCGTAGCTGGAGAGGCTGCCCTTGTAGACACA... | TCGATGACGTGCTGGGGATCGGCCTGCCGCAGCAGCCCTGGGAGCACACTAGCGGTGAGCCCGTGCAGCCAGACTGTGAGCCCCGTTGCGCTGCCGTTGGGCTCTGGGAGGGTGATGGCCAAAGACCTACGAGCAGAGGGGGGTGGTGAGCAGGTGGCAGTCTCGGGGGCGCCCTCCCACGGCCTGGCTCACCTGTTGAGGGCGACCACAGCGGCTCCCAGCTGGTCCTGCACCACCACGGCCAGGCCCACCTCGAAGTGTGGCCTGAAACCCGGGGGCAGCACGGCTCCGTAGCTGGAGAGGCTGCCCTTGTAGACACA... | pathogenic | 244,729 |
Assess the variant on chromosome 16, position 2107947, impacting PKD1 (polycystin 1, transient receptor potential channel interacting): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | TCGATGACGTGCTGGGGATCGGCCTGCCGCAGCAGCCCTGGGAGCACACTAGCGGTGAGCCCGTGCAGCCAGACTGTGAGCCCCGTTGCGCTGCCGTTGGGCTCTGGGAGGGTGATGGCCAAAGACCTACGAGCAGAGGGGGGTGGTGAGCAGGTGGCAGTCTCGGGGGCGCCCTCCCACGGCCTGGCTCACCTGTTGAGGGCGACCACAGCGGCTCCCAGCTGGTCCTGCACCACCACGGCCAGGCCCACCTCGAAGTGTGGCCTGAAACCCGGGGGCAGCACGGCTCCGTAGCTGGAGAGGCTGCCCTTGTAGACACA... | TCGATGACGTGCTGGGGATCGGCCTGCCGCAGCAGCCCTGGGAGCACACTAGCGGTGAGCCCGTGCAGCCAGACTGTGAGCCCCGTTGCGCTGCCGTTGGGCTCTGGGAGGGTGATGGCCAAAGACCTACGAGCAGAGGGGGGTGGTGAGCAGGTGGCAGTCTCGGGGGCGCCCTCCCACGGCCTGGCTCACCTGTTGAGGGCGACCACAGCGGCTCCCAGCTGGTCCTGCACCACCACGGCCAGGCCCACCTCGAAGTGTGGCCTGAAACCCGGGGGCAGCACGGCTCCGTAGCTGGAGAGGCTGCCCTTGTAGACACA... | pathogenic | 244,730 |
Clinical classification of chromosome 16, position 2108352, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CCTGAGGGACGGTCCCCACGGCATCACGGGAGGGCTCCGTGACGTCACAGAGTCGGGGGATCCCGCTGCTCCCCCCACGCAGGCCTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGT... | CCTGAGGGACGGTCCCCACGGCATCACGGGAGGGCTCCGTGACGTCACAGAGTCGGGGGATCCCGCTGCTCCCCCCACGCAGGCCTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGT... | pathogenic | 244,738 |
Is the variant located on chromosome 16 at position 2108386, gene PKD1 (polycystin 1, transient receptor potential channel interacting), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | CTCCGTGACGTCACAGAGTCGGGGGATCCCGCTGCTCCCCCCACGCAGGCCTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTG... | CTCCGTGACGTCACAGAGTCGGGGGATCCCGCTGCTCCCCCCACGCAGGCCTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTG... | pathogenic | 244,743 |
Variant in PKD1 (polycystin 1, transient receptor potential channel interacting), chromosome 16, position 2108407—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GGGGATCCCGCTGCTCCCCCCACGCAGGCCTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGC... | GGGGATCCCGCTGCTCCCCCCACGCAGGCCTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGC... | pathogenic | 244,744 |
Clinical classification of chromosome 16, position 2108435, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CCTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCG... | CCTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCG... | pathogenic | 244,746 |
The chromosome 16, position 2108436 genetic variant in gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGC... | CTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGC... | pathogenic | 244,747 |
Considering the variant on chromosome 16, location 2108438, involving gene PKD1 (polycystin 1, transient receptor potential channel interacting), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | GCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGCAA... | GCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGCAA... | pathogenic | 244,748 |
Gene PKD1 (polycystin 1, transient receptor potential channel interacting) variant at chromosome position 2108573 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | AGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGCAACCCTCTGCCCTGTCAGCCCCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCC... | AGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGCAACCCTCTGCCCTGTCAGCCCCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCC... | pathogenic | 244,753 |
Regarding the variant found on chromosome 16 at position 2108577 in gene PKD1 (polycystin 1, transient receptor potential channel interacting): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type', 'likely other unspecified diseases'] | CGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGCAACCCTCTGCCCTGTCAGCCCCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCA... | CGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGCAACCCTCTGCCCTGTCAGCCCCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCA... | pathogenic | 244,754 |
Classify the chromosome 16 variant at position 2108586 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', 'Polycystic_kidney_disease,_adult_type'] | ACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGCAACCCTCTGCCCTGTCAGCCCCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGT... | ACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGCAACCCTCTGCCCTGTCAGCCCCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGT... | pathogenic | 244,756 |
Chromosome 16, position 2108617, gene PKD1 (polycystin 1, transient receptor potential channel interacting): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGCAACCCTCTGCCCTGTCAGCCCCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCTGCGGCTCACTTCGTACACGGCCTG... | CCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGCACTGCCCGTGGATGTGGTGGTCTCATCCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGCAACCCTCTGCCCTGTCAGCCCCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCTGCGGCTCACTTCGTACACGGCCTG... | pathogenic | 244,757 |
A genetic variant on chromosome 16, position 2108683, affects the gene PKD1 (polycystin 1, transient receptor potential channel interacting). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGCAACCCTCTGCCCTGTCAGCCCCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCTGCGGCTCACTTCGTACACGGCCTGTGCCTTGCAGGACACACACTCCAAGGACACAATGGGCACCCGGCCACTCCGGATCAGCACCTGGCG... | CCAGCACCAGCGTCTTGTTGCTGAACGTACGTGCAGCCCACCGCTGCAGGCAGAAGGGGTGGTGAGGGGGCGCAACCCTCTGCCCTGTCAGCCCCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCTGCGGCTCACTTCGTACACGGCCTGTGCCTTGCAGGACACACACTCCAAGGACACAATGGGCACCCGGCCACTCCGGATCAGCACCTGGCG... | pathogenic | 244,764 |
Is the chromosome 16, position 2108767 variant in PKD1 (polycystin 1, transient receptor potential channel interacting) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | CTGTCAGCCCCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCTGCGGCTCACTTCGTACACGGCCTGTGCCTTGCAGGACACACACTCCAAGGACACAATGGGCACCCGGCCACTCCGGATCAGCACCTGGCGTGGGAGTGGGGTTACCTCCAACACAGGTCTATTTGGCCTGCTGGAAGGACTGGGGGACCCATGGAGGATGCTGCTCCCAAACTC... | CTGTCAGCCCCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCTGCGGCTCACTTCGTACACGGCCTGTGCCTTGCAGGACACACACTCCAAGGACACAATGGGCACCCGGCCACTCCGGATCAGCACCTGGCGTGGGAGTGGGGTTACCTCCAACACAGGTCTATTTGGCCTGCTGGAAGGACTGGGGGACCCATGGAGGATGCTGCTCCCAAACTC... | pathogenic | 244,767 |
For chromosome 16, position 2109076, 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'] | CTCCCAAACTCCAGGTTTCCCAGGGGCCTGGCCACTGCCGGTGAGCTCACTCCCTCCCAGGATACTCATCCGGTTTGCCACCTTCCAACTTGGACGGCGGAAGGGCATACACAGGGCAGAGGACACTGGAGTGTGCGTTCTGGTGTACTGGACCCAGCTGGACCCTAGCAGGAGGCAGGCAATGCTCACTGAGGGCCCCTGGGGGGATGCGTGTGAGAAGAGACGTATGTGTGGGTGTGAGGACCGCAGCTGCCACGTAGGCCTGACTCACAGACTCCTGCAGCCCTTAGCCAGGGCCTGGGTCAGGAGGCTGAGCTGGG... | CTCCCAAACTCCAGGTTTCCCAGGGGCCTGGCCACTGCCGGTGAGCTCACTCCCTCCCAGGATACTCATCCGGTTTGCCACCTTCCAACTTGGACGGCGGAAGGGCATACACAGGGCAGAGGACACTGGAGTGTGCGTTCTGGTGTACTGGACCCAGCTGGACCCTAGCAGGAGGCAGGCAATGCTCACTGAGGGCCCCTGGGGGGATGCGTGTGAGAAGAGACGTATGTGTGGGTGTGAGGACCGCAGCTGCCACGTAGGCCTGACTCACAGACTCCTGCAGCCCTTAGCCAGGGCCTGGGTCAGGAGGCTGAGCTGGG... | pathogenic | 244,781 |
A genetic alteration at chromosome 16, position 2109197, in gene PKD1 (polycystin 1, transient receptor potential channel interacting)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | GACACTGGAGTGTGCGTTCTGGTGTACTGGACCCAGCTGGACCCTAGCAGGAGGCAGGCAATGCTCACTGAGGGCCCCTGGGGGGATGCGTGTGAGAAGAGACGTATGTGTGGGTGTGAGGACCGCAGCTGCCACGTAGGCCTGACTCACAGACTCCTGCAGCCCTTAGCCAGGGCCTGGGTCAGGAGGCTGAGCTGGGATGGAACCTGCTCCCACACCCTCCCCTCAGACGACCCCTCTGGGAAGACCCCCAATCAGGCCAGCTGAGGAAAGCAGGGACTGGGGAACAGACGCCCACTCTGGGGCACCAGCAGGCCCCG... | GACACTGGAGTGTGCGTTCTGGTGTACTGGACCCAGCTGGACCCTAGCAGGAGGCAGGCAATGCTCACTGAGGGCCCCTGGGGGGATGCGTGTGAGAAGAGACGTATGTGTGGGTGTGAGGACCGCAGCTGCCACGTAGGCCTGACTCACAGACTCCTGCAGCCCTTAGCCAGGGCCTGGGTCAGGAGGCTGAGCTGGGATGGAACCTGCTCCCACACCCTCCCCTCAGACGACCCCTCTGGGAAGACCCCCAATCAGGCCAGCTGAGGAAAGCAGGGACTGGGGAACAGACGCCCACTCTGGGGCACCAGCAGGCCCCG... | pathogenic | 244,786 |
For chromosome 16, position 2109342, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['PKD1-related_disorder'] | CTCACAGACTCCTGCAGCCCTTAGCCAGGGCCTGGGTCAGGAGGCTGAGCTGGGATGGAACCTGCTCCCACACCCTCCCCTCAGACGACCCCTCTGGGAAGACCCCCAATCAGGCCAGCTGAGGAAAGCAGGGACTGGGGAACAGACGCCCACTCTGGGGCACCAGCAGGCCCCGCCTGACAGCAGCAGGAGCAGCCACCACGGGCTCAGGGTCACCAAGCCTCCTGGCCGGTCCAGAGAGGGGAGCGTGAGGGTGAGAACCGGCCCACCACATCCAGCAACAGGGACATGGGCTGGGGACAGTGGCTACCTCTGGGGTG... | CTCACAGACTCCTGCAGCCCTTAGCCAGGGCCTGGGTCAGGAGGCTGAGCTGGGATGGAACCTGCTCCCACACCCTCCCCTCAGACGACCCCTCTGGGAAGACCCCCAATCAGGCCAGCTGAGGAAAGCAGGGACTGGGGAACAGACGCCCACTCTGGGGCACCAGCAGGCCCCGCCTGACAGCAGCAGGAGCAGCCACCACGGGCTCAGGGTCACCAAGCCTCCTGGCCGGTCCAGAGAGGGGAGCGTGAGGGTGAGAACCGGCCCACCACATCCAGCAACAGGGACATGGGCTGGGGACAGTGGCTACCTCTGGGGTG... | pathogenic | 244,793 |
Chromosome 16, position 2109363, 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', 'Polycystic_kidney_disease,_adult_type'] | TAGCCAGGGCCTGGGTCAGGAGGCTGAGCTGGGATGGAACCTGCTCCCACACCCTCCCCTCAGACGACCCCTCTGGGAAGACCCCCAATCAGGCCAGCTGAGGAAAGCAGGGACTGGGGAACAGACGCCCACTCTGGGGCACCAGCAGGCCCCGCCTGACAGCAGCAGGAGCAGCCACCACGGGCTCAGGGTCACCAAGCCTCCTGGCCGGTCCAGAGAGGGGAGCGTGAGGGTGAGAACCGGCCCACCACATCCAGCAACAGGGACATGGGCTGGGGACAGTGGCTACCTCTGGGGTGGGAAGGGGCTCTTCCTCACTG... | TAGCCAGGGCCTGGGTCAGGAGGCTGAGCTGGGATGGAACCTGCTCCCACACCCTCCCCTCAGACGACCCCTCTGGGAAGACCCCCAATCAGGCCAGCTGAGGAAAGCAGGGACTGGGGAACAGACGCCCACTCTGGGGCACCAGCAGGCCCCGCCTGACAGCAGCAGGAGCAGCCACCACGGGCTCAGGGTCACCAAGCCTCCTGGCCGGTCCAGAGAGGGGAGCGTGAGGGTGAGAACCGGCCCACCACATCCAGCAACAGGGACATGGGCTGGGGACAGTGGCTACCTCTGGGGTGGGAAGGGGCTCTTCCTCACTG... | pathogenic | 244,795 |
Does the variant impacting PKD1 (polycystin 1, transient receptor potential channel interacting) on chromosome 16, position 2109410, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CACACCCTCCCCTCAGACGACCCCTCTGGGAAGACCCCCAATCAGGCCAGCTGAGGAAAGCAGGGACTGGGGAACAGACGCCCACTCTGGGGCACCAGCAGGCCCCGCCTGACAGCAGCAGGAGCAGCCACCACGGGCTCAGGGTCACCAAGCCTCCTGGCCGGTCCAGAGAGGGGAGCGTGAGGGTGAGAACCGGCCCACCACATCCAGCAACAGGGACATGGGCTGGGGACAGTGGCTACCTCTGGGGTGGGAAGGGGCTCTTCCTCACTGTTGGTATTGCTAGGGGACTGTGTAGCTTTTGCCACTAGAGCATATGT... | CACACCCTCCCCTCAGACGACCCCTCTGGGAAGACCCCCAATCAGGCCAGCTGAGGAAAGCAGGGACTGGGGAACAGACGCCCACTCTGGGGCACCAGCAGGCCCCGCCTGACAGCAGCAGGAGCAGCCACCACGGGCTCAGGGTCACCAAGCCTCCTGGCCGGTCCAGAGAGGGGAGCGTGAGGGTGAGAACCGGCCCACCACATCCAGCAACAGGGACATGGGCTGGGGACAGTGGCTACCTCTGGGGTGGGAAGGGGCTCTTCCTCACTGTTGGTATTGCTAGGGGACTGTGTAGCTTTTGCCACTAGAGCATATGT... | pathogenic | 244,799 |
Located at chromosome 16 position 2109613, 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'] | CATCCAGCAACAGGGACATGGGCTGGGGACAGTGGCTACCTCTGGGGTGGGAAGGGGCTCTTCCTCACTGTTGGTATTGCTAGGGGACTGTGTAGCTTTTGCCACTAGAGCATATGTGGCTTGAAGACTGTACGTGGAACTGTGGCAGGTTTGGAAGGAAGCAAAGCTGAAGCAGGCTGTCGTGTTACATAGAATTTGCATCAGAAACAGAGAGGGGAGAGCGTGCGGCCTCCACCAGCACTAAAACACGGAAAACAGTAGATGACCAGGGAGGCTGGGCTGTCCAAGGCAAGTGGCCGAGGGGCGGGCGGCACCCACCG... | CATCCAGCAACAGGGACATGGGCTGGGGACAGTGGCTACCTCTGGGGTGGGAAGGGGCTCTTCCTCACTGTTGGTATTGCTAGGGGACTGTGTAGCTTTTGCCACTAGAGCATATGTGGCTTGAAGACTGTACGTGGAACTGTGGCAGGTTTGGAAGGAAGCAAAGCTGAAGCAGGCTGTCGTGTTACATAGAATTTGCATCAGAAACAGAGAGGGGAGAGCGTGCGGCCTCCACCAGCACTAAAACACGGAAAACAGTAGATGACCAGGGAGGCTGGGCTGTCCAAGGCAAGTGGCCGAGGGGCGGGCGGCACCCACCG... | pathogenic | 244,809 |
The mutation in gene PKD1 (polycystin 1, transient receptor potential channel interacting) at chromosome 16, position 2109894—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GTCCAAGGCAAGTGGCCGAGGGGCGGGCGGCACCCACCGTCTGGTTGGTGGCCTCCTCCTTGCGGCCGGCCTTCCACACGGTCAGGCTGAAGGTGTACTCCACGCCAGCCGCCAGCCGCTCCCGTGGAATGGTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGC... | GTCCAAGGCAAGTGGCCGAGGGGCGGGCGGCACCCACCGTCTGGTTGGTGGCCTCCTCCTTGCGGCCGGCCTTCCACACGGTCAGGCTGAAGGTGTACTCCACGCCAGCCGCCAGCCGCTCCCGTGGAATGGTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGC... | pathogenic | 244,820 |
Variant in PKD1 (polycystin 1, transient receptor potential channel interacting), chromosome 16, position 2110025—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTG... | GTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTG... | pathogenic | 244,826 |
The mutation in gene PKD1 (polycystin 1, transient receptor potential channel interacting) at chromosome 16, position 2110148—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGT... | CAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGT... | pathogenic | 244,830 |
Mutation at chromosome 16, position 2110151, within PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'PKD1-related_disorder', 'Polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type', 'Polycystic_liver_disease_1'] | GAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCAC... | GAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCAC... | pathogenic | 244,831 |
Variant at chromosome 16, position 2110241, gene PKD1 (polycystin 1, transient receptor potential channel interacting): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGG... | CTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGG... | pathogenic | 244,834 |
Variant chromosome 16, position 2110348, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Disease(s)? | pathogenic; ['Inborn_genetic_diseases', 'Polycystic_kidney_disease,_adult_type'] | GCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAG... | GCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAG... | pathogenic | 244,841 |
Variant chromosome 16, position 2110370, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | TAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCG... | TAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCG... | pathogenic | 244,845 |
For chromosome 16, position 2110371, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Inborn_genetic_diseases', 'Polycystic_kidney_disease,_adult_type'] | AGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCGC... | AGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCGC... | pathogenic | 244,847 |
Does the chromosome 16 mutation at position 2110512 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'] | ACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCGCAGGTCAACGTGGGCCTCCAAGTAGTTGCGCTGTGATCGCCGCATCAGCACCTGCAGGGGCAGGACCACGTCCACCTCCGGCTCCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGG... | ACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCGCAGGTCAACGTGGGCCTCCAAGTAGTTGCGCTGTGATCGCCGCATCAGCACCTGCAGGGGCAGGACCACGTCCACCTCCGGCTCCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGG... | pathogenic | 244,853 |
A genetic variant at chromosome 16, position 2110714, affecting gene PKD1 (polycystin 1, transient receptor potential channel interacting)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GTTGCGCTGTGATCGCCGCATCAGCACCTGCAGGGGCAGGACCACGTCCACCTCCGGCTCCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGA... | GTTGCGCTGTGATCGCCGCATCAGCACCTGCAGGGGCAGGACCACGTCCACCTCCGGCTCCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGA... | pathogenic | 244,862 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 2110796, gene PKD1 (polycystin 1, transient receptor potential channel interacting). What disease(s) is it linked to if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCC... | GTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCC... | pathogenic | 244,867 |
Evaluate this variant at chromosome 16, position 2110887, 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'] | CCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAG... | CCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAG... | pathogenic | 244,871 |
Variant chromosome 16, position 2111000, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Disease(s)? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | AAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCAC... | AAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCAC... | pathogenic | 244,877 |
Benign or pathogenic: chromosome 16, position 2111096, gene PKD1 (polycystin 1, transient receptor potential channel interacting) variant? Disease(s) if pathogenic? | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | ACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGG... | ACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGG... | pathogenic | 244,880 |
Variant in PKD1 (polycystin 1, transient receptor potential channel interacting), chromosome 16, position 2111235—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | CTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACG... | CTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACG... | pathogenic | 244,885 |
Does the variant impacting PKD1 (polycystin 1, transient receptor potential channel interacting) on chromosome 16, position 2111236, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | TGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGA... | TGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGA... | pathogenic | 244,887 |
Evaluate this variant at chromosome 16, position 2111353, 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'] | GTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCAC... | GTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCAC... | pathogenic | 244,893 |
Clinical significance of chromosome 16, position 2111445, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'PKD1-related_disorder', 'Polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | CGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCC... | CGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCC... | pathogenic | 244,895 |
The chromosome 16, position 2111546 genetic variant in gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | AGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCC... | AGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCC... | pathogenic | 244,898 |
The genetic variant at chromosome 16, position 2111738, affecting gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCA... | CAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCA... | pathogenic | 244,912 |
Mutation found at chromosome 16 position 2111762, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | GCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCAT... | GCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCAT... | pathogenic | 244,914 |
Is the chromosome 16, position 2111779 variant in PKD1 (polycystin 1, transient receptor potential channel interacting) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGG... | GGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGG... | pathogenic | 244,915 |
The genetic variant at chromosome 16, position 2111862, affecting gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | TCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTG... | TCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTG... | pathogenic | 244,922 |
Is chromosome 16, position 2112462, gene PKD1 (polycystin 1, transient receptor potential channel interacting) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | AGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGC... | AGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGC... | pathogenic | 244,934 |
The mutation in gene PKD1 (polycystin 1, transient receptor potential channel interacting) at chromosome 16, position 2112824—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | TCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTGGACGCGGTGACTGTCACAAGATAGGAGCCTGGGTCTCGGTAGATGAACGTCACCTCAGGGCCCCTGGCACGGGTGGGGGCGGCTTCCTCGGTGCCAAAGTCCCAGGTGTAGCGGTAGGGGAACGGGGGCCAGGCACATGCCACCAGCCAGGCCTCGTCCCCGAGCTGCACAAACTGCCTCTCTGGCTGCAGGGTGACGTTGCCCACCTCTGGCTCCACGCAGATGCTGGTGAAGTAATGCGCCCTGTTCACGCGGCTGGACAGCACCAGCGC... | TCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTGGACGCGGTGACTGTCACAAGATAGGAGCCTGGGTCTCGGTAGATGAACGTCACCTCAGGGCCCCTGGCACGGGTGGGGGCGGCTTCCTCGGTGCCAAAGTCCCAGGTGTAGCGGTAGGGGAACGGGGGCCAGGCACATGCCACCAGCCAGGCCTCGTCCCCGAGCTGCACAAACTGCCTCTCTGGCTGCAGGGTGACGTTGCCCACCTCTGGCTCCACGCAGATGCTGGTGAAGTAATGCGCCCTGTTCACGCGGCTGGACAGCACCAGCGC... | pathogenic | 244,938 |
Evaluate this variant at chromosome 16, position 2113177, 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'] | TGTCACCGTCGGGCACCCCCGCACGGTCGTGTTGGAGGAGCCATCCCCGAAGGTCCAGTCGAAGAGGTAGTGGGCCGGGTTCCCGGTGACGTAGGCCGTGAGCCGCGCGTCAGGCTGCGTGGGGATGCAGGCGGCGGGTTCAACGCGCAGCACCTCCAGGACGAAGACCAGCACGTGCAGGCTCCGGGCCAGGTGGCCGGCGGGGCTGGCCGCACCCACGGTCACTGTGCAGTTCTGTGCCCGCAGGTACACATGCTCCACTGTTGCCTCCGGGCCCGACAGCACGGTGCCGTCCCCCATGTCGAAGGTCCACGTGATGT... | TGTCACCGTCGGGCACCCCCGCACGGTCGTGTTGGAGGAGCCATCCCCGAAGGTCCAGTCGAAGAGGTAGTGGGCCGGGTTCCCGGTGACGTAGGCCGTGAGCCGCGCGTCAGGCTGCGTGGGGATGCAGGCGGCGGGTTCAACGCGCAGCACCTCCAGGACGAAGACCAGCACGTGCAGGCTCCGGGCCAGGTGGCCGGCGGGGCTGGCCGCACCCACGGTCACTGTGCAGTTCTGTGCCCGCAGGTACACATGCTCCACTGTTGCCTCCGGGCCCGACAGCACGGTGCCGTCCCCCATGTCGAAGGTCCACGTGATGT... | pathogenic | 244,946 |
Gene PKD1 (polycystin 1, transient receptor potential channel interacting) variant at chromosome position 2114241 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | ACCCCAGTAGGGGCCTAAGCCATCAGCCCAGGTGAGGTCACAGTGAGGGCTGTTGGGGAGGAAGGGGGGCAGCTTGACTGGGGAGCTGGGGGGACCCCGTGCTCAGAGCCTGAAAGGCAGTGGCCCCCTCACCCCCTCATCCCTCACCTGGGGCAGCGTAGGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAG... | ACCCCAGTAGGGGCCTAAGCCATCAGCCCAGGTGAGGTCACAGTGAGGGCTGTTGGGGAGGAAGGGGGGCAGCTTGACTGGGGAGCTGGGGGGACCCCGTGCTCAGAGCCTGAAAGGCAGTGGCCCCCTCACCCCCTCATCCCTCACCTGGGGCAGCGTAGGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAG... | pathogenic | 244,953 |
Does the genetic variant at chromosome 16, position 2114344, impacting gene PKD1 (polycystin 1, transient receptor potential channel interacting), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CAGAGCCTGAAAGGCAGTGGCCCCCTCACCCCCTCATCCCTCACCTGGGGCAGCGTAGGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGG... | CAGAGCCTGAAAGGCAGTGGCCCCCTCACCCCCTCATCCCTCACCTGGGGCAGCGTAGGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGG... | pathogenic | 244,958 |
The mutation impacting PKD1 (polycystin 1, transient receptor potential channel interacting) on chromosome 16 at position 2114363: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GCCCCCTCACCCCCTCATCCCTCACCTGGGGCAGCGTAGGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGC... | GCCCCCTCACCCCCTCATCCCTCACCTGGGGCAGCGTAGGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGC... | pathogenic | 244,959 |
The mutation impacting PKD1 (polycystin 1, transient receptor potential channel interacting) on chromosome 16 at position 2114391: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | GGGCAGCGTAGGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTA... | GGGCAGCGTAGGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTA... | pathogenic | 244,961 |
Variant in gene PKD1 (polycystin 1, transient receptor potential channel interacting), located at chromosome 16 position 2114401: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACA... | GGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACA... | pathogenic | 244,962 |
Gene PKD1 (polycystin 1, transient receptor potential channel interacting) variant at chromosome position 2114469 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | TGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTG... | TGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTG... | pathogenic | 244,963 |
The genetic variant at chromosome 16, position 2114528, affecting gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | GGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACC... | GGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACC... | pathogenic | 244,966 |
Considering the genetic mutation at chromosome 16, position 2114714, impacting PKD1 (polycystin 1, transient receptor potential channel interacting): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGA... | CCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGA... | pathogenic | 244,967 |
Variant at chromosome 16, position 2114723, gene PKD1 (polycystin 1, transient receptor potential channel interacting): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | CAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTG... | CAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTG... | pathogenic | 244,968 |
The chromosome 16, position 2115389 genetic variant in gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | TAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTG... | TAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTG... | pathogenic | 244,982 |
For chromosome 16, position 2115389, 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'] | TAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTG... | TAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTG... | pathogenic | 244,983 |
Determine whether the variant at chromosome 16, position 2115395, in gene PKD1 (polycystin 1, transient receptor potential channel interacting) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Dilatation_of_the_cerebral_artery', 'Hepatic_cysts', 'Polycystic_kidney_disease,_adult_type', 'Stage_5_chronic_kidney_disease'] | GTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTAC... | GTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTAC... | pathogenic | 244,984 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 2115395, gene PKD1 (polycystin 1, transient receptor potential channel interacting). What disease(s) is it linked to if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTAC... | GTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTAC... | pathogenic | 244,985 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 2115436, gene PKD1 (polycystin 1, transient receptor potential channel interacting). What disease(s) is it linked to if pathogenic? | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | ACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATG... | ACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATG... | pathogenic | 244,987 |
A mutation at chromosome position 2115957 on chromosome 16 in gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGA... | CAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGA... | benign | 244,994 |
The genetic variant at chromosome 16, position 2116550, affecting gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | TGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCGGGGACCAGGGTGG... | TGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCGGGGACCAGGGTGG... | pathogenic | 245,000 |
Clinical classification of chromosome 16, position 2117019, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTG... | CCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTG... | pathogenic | 245,014 |
Mutation at chromosome 16, position 2117565, within PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | CAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACA... | CAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACA... | pathogenic | 245,019 |
Classify the chromosome 16 variant at position 2117855 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'] | GCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGG... | GCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGG... | pathogenic | 245,029 |
Variant in PKD1 (polycystin 1, transient receptor potential channel interacting), chromosome 16, position 2117885—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCA... | CCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCA... | pathogenic | 245,032 |
Evaluate this variant at chromosome 16, position 2117970, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'PKD1-related_disorder'] | TGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGG... | TGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGG... | pathogenic | 245,034 |
A genetic variant at chromosome 16, position 2118094, affecting gene PKD1 (polycystin 1, transient receptor potential channel interacting)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | GCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGT... | GCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGT... | pathogenic | 245,036 |
A genetic variant on chromosome 16, position 2118101, affects the gene PKD1 (polycystin 1, transient receptor potential channel interacting). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCT... | GGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCT... | pathogenic | 245,037 |
The chromosome 16, position 2118129 genetic variant in gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAA... | GCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAA... | pathogenic | 245,038 |
Gene PKD1 (polycystin 1, transient receptor potential channel interacting) variant at chromosome 16, position 2118129—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'PKD1-related_disorder', 'Polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | GCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAA... | GCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAA... | pathogenic | 245,039 |
Located at chromosome 16 position 2118236, 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; ['PKD1-related_disorder', 'Polycystic_kidney_disease,_adult_type'] | GAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGT... | GAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGT... | pathogenic | 245,044 |
For chromosome 16, position 2118241, 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'] | TCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAAC... | TCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAAC... | pathogenic | 245,045 |
A genetic variant on chromosome 16, position 2118317, affects the gene PKD1 (polycystin 1, transient receptor potential channel interacting). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | CTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCC... | CTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCC... | pathogenic | 245,051 |
Mutation found at chromosome 16 position 2119120, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | TGGCAGGGGGCTCAGGGCACTCCTCCATCCTCCCACCCTCACAGCAGCCCGCTGGGAGCCCCATCACTGTCCCCCTTTCCAGATGGGGAAACTGAGGCTCAGAGCCCGGAGACCAGGGCCCACCAGCCCAGGCTCACAGCAGCACCCACCCACGGGGCCTGTGGGTACCGGCAGGGATCCCCGTGCAGGCCACCTCCCGTATGGCGTGCCCAGGAGTGTCCGGAGGCTGCCCCCAGCTCATGTCCACCTCTGCATCTGCAGAGCTGACAGGAACGGCCCCACCGGCCGGCGCCACCTGCTCACCAGGGCCGGCCCAGCTC... | TGGCAGGGGGCTCAGGGCACTCCTCCATCCTCCCACCCTCACAGCAGCCCGCTGGGAGCCCCATCACTGTCCCCCTTTCCAGATGGGGAAACTGAGGCTCAGAGCCCGGAGACCAGGGCCCACCAGCCCAGGCTCACAGCAGCACCCACCCACGGGGCCTGTGGGTACCGGCAGGGATCCCCGTGCAGGCCACCTCCCGTATGGCGTGCCCAGGAGTGTCCGGAGGCTGCCCCCAGCTCATGTCCACCTCTGCATCTGCAGAGCTGACAGGAACGGCCCCACCGGCCGGCGCCACCTGCTCACCAGGGCCGGCCCAGCTC... | pathogenic | 245,063 |
Evaluate if the mutation on chromosome 16 at position 2135471 in PKD1 (polycystin 1, transient receptor potential channel interacting) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | TGGTGACACCCAGACAGCAACGCTCTTGGACCCTTGAACACCTGCCAGCAGCTGTGATCTGTGTCCTTCACCTCTCCCAGCTTGACCCCTCTTCCCTGGGGAAAACCCAGCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCA... | TGGTGACACCCAGACAGCAACGCTCTTGGACCCTTGAACACCTGCCAGCAGCTGTGATCTGTGTCCTTCACCTCTCCCAGCTTGACCCCTCTTCCCTGGGGAAAACCCAGCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCA... | pathogenic | 245,069 |
Variant at chromosome 16, position 2135518, gene PKD1 (polycystin 1, transient receptor potential channel interacting): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | GCAGCTGTGATCTGTGTCCTTCACCTCTCCCAGCTTGACCCCTCTTCCCTGGGGAAAACCCAGCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTG... | GCAGCTGTGATCTGTGTCCTTCACCTCTCCCAGCTTGACCCCTCTTCCCTGGGGAAAACCCAGCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTG... | pathogenic | 245,071 |
Is chromosome 16, position 2135523, gene PKD1 (polycystin 1, transient receptor potential channel interacting) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | TGTGATCTGTGTCCTTCACCTCTCCCAGCTTGACCCCTCTTCCCTGGGGAAAACCCAGCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGC... | TGTGATCTGTGTCCTTCACCTCTCCCAGCTTGACCCCTCTTCCCTGGGGAAAACCCAGCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGC... | pathogenic | 245,072 |
Does the chromosome 16 mutation at position 2135580 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', 'Polycystic_kidney_disease,_adult_type'] | GCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCA... | GCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCA... | pathogenic | 245,074 |
Variant at chromosome position 2135581, chromosome 16, gene PKD1 (polycystin 1, transient receptor potential channel interacting): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['PKD1-related_disorder', 'Polycystic_kidney_disease', 'Polycystic_kidney_disease,_adult_type'] | CCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAG... | CCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAG... | pathogenic | 245,075 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 2135664, gene PKD1 (polycystin 1, transient receptor potential channel interacting): what disease(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease,_adult_type'] | GCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAGAGCCTAAGAGGACAACACAAGGCAGGGGCGGGGGCTCCACTGCTGTGCCAAGGGCCTGGAGAACACGGGCCTTGCTCTCCGCT... | GCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAGAGCCTAAGAGGACAACACAAGGCAGGGGCGGGGGCTCCACTGCTGTGCCAAGGGCCTGGAGAACACGGGCCTTGCTCTCCGCT... | pathogenic | 245,077 |
Determine whether the variant at chromosome 16, position 2281402, in gene ABCA3 (ATP binding cassette subfamily A member 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_pulmonary_alveolar_proteinosis', 'Interstitial_lung_disease_due_to_ABCA3_deficiency'] | GCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGT... | GCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGT... | pathogenic | 245,120 |
Variant at chromosome 16, position 2283222, gene ABCA3 (ATP binding cassette subfamily A member 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_pulmonary_alveolar_proteinosis'] | GAGGGAGAGCCTGTCCACGGCCAGGAGGGGCACCCGCTGCTCGTACACCTGCAGGCACCCAACAGAAAACACGGAATGCGGAGGCCTGGACGCAAAGCAGAGCAGTCTGAGCCTCAGCGCCGAAAGCTTCCAGGGATGGGGTCGGACCCTGGGGACAGCCAGGTAGTCAGCTGGCAGGAAGGACTCCACCCCAAATTGCAAGGGTACCTTGGAGAGCTCCTTGATAATCAGAGGTGTGTGGAGCAGGGAGTCCGGACTGGGGGCCAGGATGCGGGTCCTCTCGTCCGCTACATCTTGGTCCTCAGGAAGCACAGGCATCC... | GAGGGAGAGCCTGTCCACGGCCAGGAGGGGCACCCGCTGCTCGTACACCTGCAGGCACCCAACAGAAAACACGGAATGCGGAGGCCTGGACGCAAAGCAGAGCAGTCTGAGCCTCAGCGCCGAAAGCTTCCAGGGATGGGGTCGGACCCTGGGGACAGCCAGGTAGTCAGCTGGCAGGAAGGACTCCACCCCAAATTGCAAGGGTACCTTGGAGAGCTCCTTGATAATCAGAGGTGTGTGGAGCAGGGAGTCCGGACTGGGGGCCAGGATGCGGGTCCTCTCGTCCGCTACATCTTGGTCCTCAGGAAGCACAGGCATCC... | pathogenic | 245,128 |
Assess the variant on chromosome 16, position 2283318, impacting ABCA3 (ATP binding cassette subfamily A member 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_pulmonary_alveolar_proteinosis'] | GCAGAGCAGTCTGAGCCTCAGCGCCGAAAGCTTCCAGGGATGGGGTCGGACCCTGGGGACAGCCAGGTAGTCAGCTGGCAGGAAGGACTCCACCCCAAATTGCAAGGGTACCTTGGAGAGCTCCTTGATAATCAGAGGTGTGTGGAGCAGGGAGTCCGGACTGGGGGCCAGGATGCGGGTCCTCTCGTCCGCTACATCTTGGTCCTCAGGAAGCACAGGCATCCGGGTGTATAATTCTGTCTGATTGACCAGGACAAAGACCGCATGCGTGAACCCAGCCGCAGGGCGGCTTCCGTGGAGAAGGGAGGGGCGGGGGTGGA... | GCAGAGCAGTCTGAGCCTCAGCGCCGAAAGCTTCCAGGGATGGGGTCGGACCCTGGGGACAGCCAGGTAGTCAGCTGGCAGGAAGGACTCCACCCCAAATTGCAAGGGTACCTTGGAGAGCTCCTTGATAATCAGAGGTGTGTGGAGCAGGGAGTCCGGACTGGGGGCCAGGATGCGGGTCCTCTCGTCCGCTACATCTTGGTCCTCAGGAAGCACAGGCATCCGGGTGTATAATTCTGTCTGATTGACCAGGACAAAGACCGCATGCGTGAACCCAGCCGCAGGGCGGCTTCCGTGGAGAAGGGAGGGGCGGGGGTGGA... | pathogenic | 245,131 |
Assess the variant on chromosome 16, position 2284870, impacting ABCA3 (ATP binding cassette subfamily A member 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_pulmonary_alveolar_proteinosis', 'Interstitial_lung_disease_due_to_ABCA3_deficiency'] | CTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCAGGCACTGGGTGTCCCTGGGCACCACCTCTCCTCAGCAGGACGGCCCTGGGCCCCCAGGCTGACTCCTCGGCAGGGGCTCACAACTCGACAGCCCTTGTGAGTGGCGAGGGCTGTGCCCCGCCCTGGCTGTAAGTGCCGGCTGGTGCTGAGGCCGTACAGTGGGAGACCATCTGGTGCAGGAGCTGCCTGGTGGAGAAGGAGGTGGAGCTGCCCCAGGTTGTGCTGGGCCCAAGCAGAGACG... | CTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCAGGCACTGGGTGTCCCTGGGCACCACCTCTCCTCAGCAGGACGGCCCTGGGCCCCCAGGCTGACTCCTCGGCAGGGGCTCACAACTCGACAGCCCTTGTGAGTGGCGAGGGCTGTGCCCCGCCCTGGCTGTAAGTGCCGGCTGGTGCTGAGGCCGTACAGTGGGAGACCATCTGGTGCAGGAGCTGCCTGGTGGAGAAGGAGGTGGAGCTGCCCCAGGTTGTGCTGGGCCCAAGCAGAGACG... | pathogenic | 245,138 |
Is the genetic variant on chromosome 16, position 2295598, gene ABCA3 (ATP binding cassette subfamily A member 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['ABCA3-related_disorder'] | TTTTTTGAGACTGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCGATCTTGGCTCACTGCAAGATCTGCCTCCCGGCTTCATGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTCGGCCTCCAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCATGTGGCTAATTTTTAATTTTTTTGTAGAGA... | TTTTTTGAGACTGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCGATCTTGGCTCACTGCAAGATCTGCCTCCCGGCTTCATGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTCGGCCTCCAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCATGTGGCTAATTTTTAATTTTTTTGTAGAGA... | pathogenic | 245,173 |
Evaluate the clinical significance of the mutation at chromosome 16, position 2297402 in gene ABCA3 (ATP binding cassette subfamily A member 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Interstitial_lung_disease_due_to_ABCA3_deficiency'] | TACGTGCTTCTCCTTTTCAGGTCCTAATTATGTTTCTCCTTGCTAGGAGGCCTGGCACCTAGGACCCAGCCAAGCAGATTCATCTGGGCTGATGGTGCCCAGGCTGAGGGTCTAAGAGTGCCGACTGGCCAGGCCAGAGAGGGGCAGAGCAGGTGCCTCTGAGCACAAAGCCCTCATGGCCCATGGGGATCCCATCTTGGATGTATACCTGTGCGTGCCCTCCCTGGGAGGCGTACCTGTGCGTGCTCTCTCTGGGAAGGATGAAAGACAGCTCGGCCCCAGCGCTGCTCTCCAGCGTGGCGTTGGGCACGTGGTGGTGG... | TACGTGCTTCTCCTTTTCAGGTCCTAATTATGTTTCTCCTTGCTAGGAGGCCTGGCACCTAGGACCCAGCCAAGCAGATTCATCTGGGCTGATGGTGCCCAGGCTGAGGGTCTAAGAGTGCCGACTGGCCAGGCCAGAGAGGGGCAGAGCAGGTGCCTCTGAGCACAAAGCCCTCATGGCCCATGGGGATCCCATCTTGGATGTATACCTGTGCGTGCCCTCCCTGGGAGGCGTACCTGTGCGTGCTCTCTCTGGGAAGGATGAAAGACAGCTCGGCCCCAGCGCTGCTCTCCAGCGTGGCGTTGGGCACGTGGTGGTGG... | pathogenic | 245,182 |
Is the genetic mutation found on chromosome 16 at position 2299413, within the gene ABCA3 (ATP binding cassette subfamily A member 3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_pulmonary_alveolar_proteinosis'] | ACTGCAGCTCCCCCTTGGCCATGATGGCGATGCGGTCTCCCAGCAGGTCAGCCTCGTCCATGAAGTGGGTGGTCAGCACGATGGTGCGGTCACTTTTCTGCCGCTGAAGAAGATCCCAGATGGCCCTCCTGGAGATGGCGTCCATGCCCGAGGTGGGCTCGTCCAGTATCAGCACCTGGAGGGAGAGACACAGTCTCGCGACGCTGGTAGAGCCACACCCCGGGCCCAGGCTGGCCTTGCGGTAGGCCCCATCGAGGGGTTCGCGGAGCCGGCTTGAGTCCTCCAAGGATGGTGATGGCCTTGTCTGGGGTGTCAAGGGC... | ACTGCAGCTCCCCCTTGGCCATGATGGCGATGCGGTCTCCCAGCAGGTCAGCCTCGTCCATGAAGTGGGTGGTCAGCACGATGGTGCGGTCACTTTTCTGCCGCTGAAGAAGATCCCAGATGGCCCTCCTGGAGATGGCGTCCATGCCCGAGGTGGGCTCGTCCAGTATCAGCACCTGGAGGGAGAGACACAGTCTCGCGACGCTGGTAGAGCCACACCCCGGGCCCAGGCTGGCCTTGCGGTAGGCCCCATCGAGGGGTTCGCGGAGCCGGCTTGAGTCCTCCAAGGATGGTGATGGCCTTGTCTGGGGTGTCAAGGGC... | pathogenic | 245,200 |
A mutation at chromosome position 2300141 on chromosome 16 in gene ABCA3 (ATP binding cassette subfamily A member 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_pulmonary_alveolar_proteinosis', 'Interstitial_lung_disease_due_to_ABCA3_deficiency'] | ACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCACGGCCAGCGAGTTTCTGGTAAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCCTGGCCAGCGAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGACTCAGAACCCTGGCTCCTGCCCTCCTGGCTCCCTTCCTCCAGTTTAGCTCCTCGGAAGACTGCCCCAGAAACTCGAGCACATCAGTGGAAACACCCCTGCACACCCCTGGCCCCCAACTCACCTGGGCGTAGAAATAAAGGTGCTCTGC... | ACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCACGGCCAGCGAGTTTCTGGTAAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCCTGGCCAGCGAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGACTCAGAACCCTGGCTCCTGCCCTCCTGGCTCCCTTCCTCCAGTTTAGCTCCTCGGAAGACTGCCCCAGAAACTCGAGCACATCAGTGGAAACACCCCTGCACACCCCTGGCCCCCAACTCACCTGGGCGTAGAAATAAAGGTGCTCTGC... | pathogenic | 245,208 |
Is the chromosome 16, position 2319484 variant in ABCA3 (ATP binding cassette subfamily A member 3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GGCCGGCAGAGGTGGACCAGGAGGACTCCTGACCATCCCTGGTCACAGGGACGCGGCTCCACCGAGAGGAGTGGGACATTGACAGCTCCTCTCCCCCATGAGGGACAGACTCTCTCTGAAGTCTCTGACCACAAAGTTCTTCCCAAGAGGGCCCTCCTGGGGTGCCCTGGCTCTCCCCGTCCTCACCAGAGCCCCACCGACGCCATGCTCACCTTGACACAGAAGAGCAGGGTCATGAAGGAGGCGGCGATGAGGAGGAAGAGGAAGAACAAGAGGAACCAGGCACTCCAGTGCAGCCAGCTGCTGAGCCCCATCATGCG... | GGCCGGCAGAGGTGGACCAGGAGGACTCCTGACCATCCCTGGTCACAGGGACGCGGCTCCACCGAGAGGAGTGGGACATTGACAGCTCCTCTCCCCCATGAGGGACAGACTCTCTCTGAAGTCTCTGACCACAAAGTTCTTCCCAAGAGGGCCCTCCTGGGGTGCCCTGGCTCTCCCCGTCCTCACCAGAGCCCCACCGACGCCATGCTCACCTTGACACAGAAGAGCAGGGTCATGAAGGAGGCGGCGATGAGGAGGAAGAGGAAGAACAAGAGGAACCAGGCACTCCAGTGCAGCCAGCTGCTGAGCCCCATCATGCG... | benign | 245,232 |
Clinically, how would you classify the variant at chromosome 16, position 2319632, gene ABCA3 (ATP binding cassette subfamily A member 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_pulmonary_alveolar_proteinosis', 'Interstitial_lung_disease_due_to_ABCA3_deficiency'] | GGGCCCTCCTGGGGTGCCCTGGCTCTCCCCGTCCTCACCAGAGCCCCACCGACGCCATGCTCACCTTGACACAGAAGAGCAGGGTCATGAAGGAGGCGGCGATGAGGAGGAAGAGGAAGAACAAGAGGAACCAGGCACTCCAGTGCAGCCAGCTGCTGAGCCCCATCATGCGCATGTACTCCTGGGGAGAGAAGCCATCACGCTGCTGGGGGCCCGTCACTGCCCGCCATGATGGCATGTGCCAGGCTGGACGGCAGCAGGCCTGAGTCCGACTGTCCCAGCAGCCCTGCATTCGACAGGGTCTTACTATGTCGGCCAGG... | GGGCCCTCCTGGGGTGCCCTGGCTCTCCCCGTCCTCACCAGAGCCCCACCGACGCCATGCTCACCTTGACACAGAAGAGCAGGGTCATGAAGGAGGCGGCGATGAGGAGGAAGAGGAAGAACAAGAGGAACCAGGCACTCCAGTGCAGCCAGCTGCTGAGCCCCATCATGCGCATGTACTCCTGGGGAGAGAAGCCATCACGCTGCTGGGGGCCCGTCACTGCCCGCCATGATGGCATGTGCCAGGCTGGACGGCAGCAGGCCTGAGTCCGACTGTCCCAGCAGCCCTGCATTCGACAGGGTCTTACTATGTCGGCCAGG... | pathogenic | 245,236 |
A genetic alteration at chromosome 16, position 2496376, in gene TBC1D24 (TBC1 domain family member 24)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Auditory_neuropathy_spectrum_disorder', 'Autosomal_dominant_nonsyndromic_hearing_loss_65', 'Autosomal_recessive_nonsyndromic_hearing_loss_86', 'Caused_by_mutation_in_the_TBC1_domain_family,_member_24', 'DOORS_syndrome', 'Developmental_and_epileptic_encephalopathy,_1', 'Developmental_and_epileptic_encephal... | CTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCT... | CTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCT... | pathogenic | 245,315 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 2496621, gene TBC1D24 (TBC1 domain family member 24). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_65', 'Caused_by_mutation_in_the_TBC1_domain_family,_member_24', 'Developmental_and_epileptic_encephalopathy,_1', 'Inborn_genetic_diseases'] | CCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGG... | CCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGG... | pathogenic | 245,333 |
A genetic alteration at chromosome 16, position 2496704, in gene TBC1D24 (TBC1 domain family member 24)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | GGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCC... | GGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCC... | pathogenic | 245,340 |
Gene TBC1D24 (TBC1 domain family member 24) variant at chromosome 16, position 2496898—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_65', 'Autosomal_recessive_nonsyndromic_hearing_loss_86', 'Caused_by_mutation_in_the_TBC1_domain_family,_member_24', 'DOORS_syndrome', 'Developmental_and_epileptic_encephalopathy,_1', 'Developmental_and_epileptic_encephalopathy,_16', 'Familial_infantile_myocloni... | ATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACA... | ATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACA... | pathogenic | 245,355 |
Is the chromosome 16, position 2497740 variant in TBC1D24 (TBC1 domain family member 24) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAA... | TCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAA... | benign | 245,374 |
The mutation impacting TBC1D24 (TBC1 domain family member 24) on chromosome 16 at position 2498261: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_65', 'Caused_by_mutation_in_the_TBC1_domain_family,_member_24', 'DOORS_syndrome', 'Developmental_and_epileptic_encephalopathy,_1', 'Developmental_and_epileptic_encephalopathy,_16', 'Inborn_genetic_diseases', 'TBC1D24-related_disorder'] | TGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATC... | TGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATC... | pathogenic | 245,379 |
Is the chromosome 16, position 2500323 variant in TBC1D24 (TBC1 domain family member 24) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_65', 'Autosomal_recessive_nonsyndromic_hearing_loss_86', 'Caused_by_mutation_in_the_TBC1_domain_family,_member_24', 'DOORS_syndrome', 'Developmental_and_epileptic_encephalopathy,_1', 'Developmental_and_epileptic_encephalopathy,_16', 'Familial_infantile_myocloni... | CGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCAC... | CGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCAC... | pathogenic | 245,401 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.